Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_28100
Here is a genetic alteration in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Developmental and epileptic encephalopathy, 7
CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAG
CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCACAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAG
Task1_train_28101
With a mutation on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; KCNQ2-related disorder
CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAG
CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCACAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAG
Task1_train_28102
A variant found in Chromosome 20 affects KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Developmental and epileptic encephalopathy, 7
CTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCT
CTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAGGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCT
Task1_train_28103
Consider a variant on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Determine its clinical classification and disease relevance.
Pathogenic; Seizure
ATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGG
ATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGACGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGG
Task1_train_28104
Mutation context: Chromosome 20, Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Generalized hypotonia
ATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGG
ATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGACGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGG
Task1_train_28105
The variant affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; not provided
ATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGG
ATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGTCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGG
Task1_train_28106
This variant affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) located on Chromosome 20. Evaluate its biological effect and specify any disease association.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGG
TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCTGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGG
Task1_train_28107
Here’s a variant in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Developmental and epileptic encephalopathy, 7
TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGG
TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCTGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGG
Task1_train_28108
Here is a mutation in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Seizures, benign familial neonatal, 1
TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGG
TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCTGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGG
Task1_train_28109
This variant impacts the gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is the change likely to result in a pathogenic outcome?
Pathogenic; Developmental and epileptic encephalopathy, 7
TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGG
TGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCTGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGG
Task1_train_28110
A variant was discovered on Chromosome 20, affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Seizures, benign familial neonatal, 1
AGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAA
AGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGCACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAA
Task1_train_28111
The variant affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Developmental and epileptic encephalopathy, 7
GGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAAC
GGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTCCTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAAC
Task1_train_28112
Assess the clinical impact of this variant on gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
GGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAAC
GGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTGCTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAAC
Task1_train_28113
Mutation context: Chromosome 20, Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Developmental and epileptic encephalopathy, 7
GGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAAC
GGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTGCTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAAC
Task1_train_28114
Consider this mutation in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is this a benign change or a disease-causing variant?
Pathogenic; not provided
GCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCC
GCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACCTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCC
Task1_train_28115
Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Epileptic encephalopathy
CACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCA
CACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGACCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCA
Task1_train_28116
Consider this mutation in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is this a benign change or a disease-causing variant?
Pathogenic; Developmental and epileptic encephalopathy, 7
TGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCA
TGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCAGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCA
Task1_train_28117
Here’s a variant in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Developmental and epileptic encephalopathy, 7
GGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGC
GGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTGGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGC
Task1_train_28118
This sequence change occurs on Chromosome 20, altering KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
GGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGC
GGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTGGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGC
Task1_train_28119
This variant affects the gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Developmental and epileptic encephalopathy, 7
AACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCC
AACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCTAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCC
Task1_train_28120
Given a variant located on Chromosome 20 and affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
AGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTG
AGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGCTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTG
Task1_train_28121
A variant was discovered in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Developmental and epileptic encephalopathy, 7
GGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGG
GGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGCGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGG
Task1_train_28122
A genetic alteration is present in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
GGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGG
GGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGGGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGG
Task1_train_28123
Mutation context: Chromosome 20, Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; not provided
ATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGA
ATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGATCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGA
Task1_train_28124
A mutation on Chromosome 20 affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
ATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGA
ATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGTTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGA
Task1_train_28125
This sequence change occurs on Chromosome 20, altering KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
TCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAG
TCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCATGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAG
Task1_train_28126
A variant found in Chromosome 20 affects KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Developmental and epileptic encephalopathy, 7
TCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAG
TCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCATGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAG
Task1_train_28127
This gene mutation involves KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it associated with any clinical condition, or is it benign?
Pathogenic; West syndrome
TCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAG
TCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCATGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAG
Task1_train_28128
Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Seizures, benign familial neonatal, 1
AGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAA
AGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCAACAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAA
Task1_train_28129
This is a variant in KCNQ2 (potassium voltage-gated channel subfamily Q member 2), located on Chromosome 20. Is this mutation a likely cause of disease or not?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
AGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAA
AGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCAACAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAA
Task1_train_28130
Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Developmental and epileptic encephalopathy, 7
GCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCA
GCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGGGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCA
Task1_train_28131
The gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Epileptic encephalopathy
GACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGA
GACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCTTCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGA
Task1_train_28132
Given this context: Chromosome 20, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
GCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCG
GCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGATGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCG
Task1_train_28133
The gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Seizures, benign familial neonatal, 1
CCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGA
CCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTAGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGA
Task1_train_28134
This sequence variant lies in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
GGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCT
GGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCACCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCT
Task1_train_28135
A mutation on Chromosome 20 affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Developmental and epileptic encephalopathy, 7
GCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTC
GCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCACTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTC
Task1_train_28136
Given this context: Chromosome 20, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Seizures, benign familial neonatal, 1
GCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTC
GCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCACTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTC
Task1_train_28137
A mutation found in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Seizures, benign familial neonatal, 1
GGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCA
GGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCGCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCA
Task1_train_28138
A change on Chromosome 20 affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Developmental and epileptic encephalopathy, 7
GGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACC
GGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGACAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACC
Task1_train_28139
This gene mutation involves KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it associated with any clinical condition, or is it benign?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCT
CACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACAACAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCT
Task1_train_28140
Here is a variant affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
GCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAG
GCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACCAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAG
Task1_train_28141
Assess the clinical impact of this variant on gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCAC
CATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCGGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCAC
Task1_train_28142
This variant impacts the gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is the change likely to result in a pathogenic outcome?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
GGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGAC
GGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAAACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGAC
Task1_train_28143
Consider this mutation in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is this a benign change or a disease-causing variant?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
GCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCAT
GCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAGGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCAT
Task1_train_28144
Located on Chromosome 20, this mutation impacts KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCT
CCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGACGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCT
Task1_train_28145
Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Inborn genetic diseases
CGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAG
CGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGCACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAG
Task1_train_28146
The variant affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Seizures, benign familial neonatal, 1
AACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAA
AACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGCGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAA
Task1_train_28147
A sequence alteration has been identified in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it disease-inducing or harmless?
Pathogenic; not provided
GCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCC
GCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCCCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCC
Task1_train_28148
Chromosome 20 houses a mutation in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; not provided
CACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTCCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCC
CACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGCTCTCAACCCCCACCCAAGCCCCGACTGGGAAGACAGTGTCCAGGTCTCATGAAATTAATAAAATAACTTCGGATCAGCTGCATCCGGCTTAGGCACCAGGTGGAGCTGCCCATGCCTTCCCCGCAGGGCTGAGCCCACTCAGCCGGCATGTGCGGGGCTAGGCCCGGGGTCTGGTCTCAGCCTCCCAGGAGAGCACAGACCCTGCCCCTGTGCACCAGCAGCCTGAGGGTGTCTGTGGCCCCAGGTGAGGAGGAGCCCAGGGGCCAGATCTGTTCAGACCTGATCAGAGTGGGGCCTGCAGAGCCACCTAGTCTCCAAAAACTCAGGGCTGCCCAGGACAGATCTCCTAGGGATGCCTCTTCTCCCCTTTCCCCCAATAATCGGGACACGGAGCAGGTGGAGGGTCACTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGAGGAAGGAAGATGCCCACCACGGCTGAGCTCAGGCTCTCTGGGGCCCAGCCCTCCCCACCCACTCCCCCGCCAGCTTGGCAACCACCACCCCGCCTCGACCACAAGCCATCATGACCACGGGCAGCCAGCAGGTGGCCCCAAAGAGATGTATGGAGCAGGCTCAGCCAGTGAGAGCCTGGTCCCAGCACAGGGACAGGGGTGTATCAGCAGGGAAAGGGAAAACCACAATGACCACAACTCACCAGGCCCCACCAGAGTGCATCCGCGTAGGTGTCAAAGTGGTCGTTCTCCCCCTTCTCTGCCAAGTACACCAGGAACGAGGCCAGGATGAGACAAAGGAAGCCGATGTACCAGGCAGTGACCAGCTGCTGAGAGGCAGACGGCACCACCATCATGACCACCATCACCAGAAGCATCACCATCACCACCACCAACACCACCACCATCACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCC
Task1_train_28149
Given this context: Chromosome 20, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCT
CAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGATGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCT
Task1_train_28150
Here is a mutation in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; KCNQ2-related disorder
CAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCT
CAACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGATGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCT
Task1_train_28151
Mutation context: Chromosome 20, Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
ACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGG
ACACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTTTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGG
Task1_train_28152
This variant affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) located on Chromosome 20. Evaluate its biological effect and specify any disease association.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
ACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGC
ACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGGGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGC
Task1_train_28153
This sequence change occurs on Chromosome 20, altering KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
AAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCG
AAAACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCATCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCG
Task1_train_28154
The gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Developmental and epileptic encephalopathy, 7
ATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTC
ATCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCTGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTC
Task1_train_28155
This is a variant in KCNQ2 (potassium voltage-gated channel subfamily Q member 2), located on Chromosome 20. Is this mutation a likely cause of disease or not?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
ACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACC
ACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGCGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACC
Task1_train_28156
The gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
CACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAG
CACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGACTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAG
Task1_train_28157
The gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTA
CATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCTGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTA
Task1_train_28158
Given this context: Chromosome 20, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Seizures, benign familial neonatal, 1
CATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTA
CATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCTGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTA
Task1_train_28159
A mutation on Chromosome 20 affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Seizures, benign familial neonatal, 1
CACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAG
CACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCAGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAG
Task1_train_28160
This variant impacts the gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is the change likely to result in a pathogenic outcome?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAG
CACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCAGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAG
Task1_train_28161
Here’s a variant in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Inborn genetic diseases
ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGG
ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCAGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGG
Task1_train_28162
The gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGG
ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCAGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGG
Task1_train_28163
A genetic alteration is present in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Developmental and epileptic encephalopathy, 7
ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGG
ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCAGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGG
Task1_train_28164
This sequence variant lies in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Seizures, benign familial neonatal, 1
ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGG
ACCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCAGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGG
Task1_train_28165
Given a variant located on Chromosome 20 and affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; not provided
CCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGG
CCACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGTTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGG
Task1_train_28166
A change on Chromosome 20 affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGC
CACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGCCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGC
Task1_train_28167
Chromosome 20 houses a mutation in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGC
CACCACCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGGCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGC
Task1_train_28168
A change on Chromosome 20 affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTC
CACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGTGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTC
Task1_train_28169
Assess the clinical impact of this variant on gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Developmental and epileptic encephalopathy, 7
CACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTC
CACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGTGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTC
Task1_train_28170
The variant affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGA
CACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGCTCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGA
Task1_train_28171
This alteration occurs within gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) located on Chromosome 20. Is it associated with a disease or is it a benign variant?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGA
CACCACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGGTCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGA
Task1_train_28172
Here is a variant affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
ACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTC
ACCACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCACCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTC
Task1_train_28173
A mutation in KCNQ2 (potassium voltage-gated channel subfamily Q member 2), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Developmental and epileptic encephalopathy, 7
CACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTT
CACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCTGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTT
Task1_train_28174
Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Seizures, benign familial neonatal, 1
CACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTT
CACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCTGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTT
Task1_train_28175
This mutation occurs in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTT
CACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCTGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTT
Task1_train_28176
A mutation on Chromosome 20 affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Seizures, benign familial neonatal, 1
ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTC
ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCACAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTC
Task1_train_28177
This alteration occurs within gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) located on Chromosome 20. Is it associated with a disease or is it a benign variant?
Pathogenic; Developmental and epileptic encephalopathy, 7
ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTC
ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCACAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTC
Task1_train_28178
Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Inborn genetic diseases
ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTC
ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCACAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTC
Task1_train_28179
A genetic alteration is present in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTC
ACCATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCACAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTC
Task1_train_28180
Consider this mutation in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is this a benign change or a disease-causing variant?
Pathogenic; Seizures, benign familial neonatal, 1
CATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTC
CATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCCGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTC
Task1_train_28181
Here is a variant affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Developmental and epileptic encephalopathy, 7
CATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTC
CATCACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCCGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTC
Task1_train_28182
Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Seizures, benign familial neonatal, 1
ACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATAC
ACCATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAACCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATAC
Task1_train_28183
Mutation context: Chromosome 20, Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; not provided
CATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTC
CATCACCACCATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCCGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTC
Task1_train_28184
Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Developmental and epileptic encephalopathy, 7
CATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGT
CATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGTGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGT
Task1_train_28185
This variant affects the gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGT
CATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGTGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGT
Task1_train_28186
This sequence change occurs on Chromosome 20, altering KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Developmental and epileptic encephalopathy, 7
ATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTG
ATCACCATCACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCCCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTG
Task1_train_28187
The gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Inborn genetic diseases
CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACAC
CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCTGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACAC
Task1_train_28188
Here is a variant affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Developmental and epileptic encephalopathy, 7
CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACAC
CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCTGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACAC
Task1_train_28189
A variant has been detected on Chromosome 20 in KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACAC
CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCTGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACAC
Task1_train_28190
Given a variant located on Chromosome 20 and affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; See cases
CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACAC
CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCTGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACAC
Task1_train_28191
This alteration in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Developmental and epileptic encephalopathy, 7
CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACAC
CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCTGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACAC
Task1_train_28192
This gene mutation involves KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it associated with any clinical condition, or is it benign?
Pathogenic; Seizures, benign familial neonatal, 1
CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACAC
CACCACCACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCTGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACAC
Task1_train_28193
This sequence variant lies in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAG
CACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCACAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAG
Task1_train_28194
A variant was discovered in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; KCNQ2-related disorder
CACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAG
CACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCACAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAG
Task1_train_28195
The following genetic variant occurs in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Developmental and epileptic encephalopathy, 7
CACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAG
CACCACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCACAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAG
Task1_train_28196
With a mutation on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
ACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACG
ACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGGTGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACG
Task1_train_28197
Here is a genetic alteration in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Inborn genetic diseases
ACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACG
ACCACCATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGGTGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACG
Task1_train_28198
The variant affects gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; not provided
CATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACGAGGCA
CATCATCACCACCTCCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGTCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACGAGGCA
Task1_train_28199
This alteration in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
ACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACGAGGCAGGAGAAAACCAGGAGGAACCTGGGGGCAGGGAACGCGCGCTCTCAGACAGGCCGC
ACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCACCATCACATCACCACCACCATCACCATCATCAGCATCACCATCACCATTATCACCACCACCACCATTATCACCACCATCACCATCACCACCACCACTATCACCACCACCACCATCATCACCACCACCATCACCGGCGCCACCACCATCACATCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACCATCGCCACCATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCAACATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACGAGGCAGGAGAAAACCAGGAGGAACCTGGGGGCAGGGAACGCGCGCTCTCAGACAGGCCGC