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_28000
The gene GNAS (GNAS complex locus) is located on Chromosome 20, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Pituitary adenoma 3, multiple types
CAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGA
CAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCACCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGA
Task1_train_28001
With a mutation on Chromosome 20 in gene GNAS (GNAS complex locus), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; GNAS-related disorder
GAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGA
GAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACACCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGA
Task1_train_28002
A mutation found in GNAS (GNAS complex locus) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Pseudohypoparathyroidism type I A
GAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGA
GAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACACCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGA
Task1_train_28003
This mutation is located in gene GNAS (GNAS complex locus) on Chromosome 20. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Pseudohypoparathyroidism
GAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTT
GAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGGAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTT
Task1_train_28004
Here is a variant affecting GNAS (GNAS complex locus) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Pseudohypoparathyroidism type I A
ATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTT
ATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCTGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTT
Task1_train_28005
The following genetic variant occurs in GNAS (GNAS complex locus) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Pseudohypoparathyroidism type I A
TTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGA
TTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATTGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGA
Task1_train_28006
This mutation occurs in GNAS (GNAS complex locus) on Chromosome 20. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Pseudohypoparathyroidism type I A
GCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCAC
GCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCAAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCAC
Task1_train_28007
A variant has been detected on Chromosome 20 in GNAS (GNAS complex locus). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Pseudohypoparathyroidism type I A
ATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATG
ATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGACGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATG
Task1_train_28008
A variant was discovered on Chromosome 20, affecting GNAS (GNAS complex locus). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Pseudohypoparathyroidism type I A
TTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCT
TTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTAGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCT
Task1_train_28009
A variant affecting Chromosome 20, within the gene GNAS (GNAS complex locus), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Pseudohypoparathyroidism type I A
TTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGA
TTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCATCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGA
Task1_train_28010
A variant found in Chromosome 20 affects GNAS (GNAS complex locus). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
TGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGAAATTCTGGAACCTTCTTAGCATAATCCAC
TGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCTCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGAAATTCTGGAACCTTCTTAGCATAATCCAC
Task1_train_28011
A variant was discovered in gene GNAS (GNAS complex locus), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Pseudohypoparathyroidism type I A
TTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGAAATTCTGGAACCTTCTTAGCATAATCCACATGAGATTGTCACAGCTCT
TTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACACCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGAAATTCTGGAACCTTCTTAGCATAATCCACATGAGATTGTCACAGCTCT
Task1_train_28012
Consider this mutation in GNAS (GNAS complex locus) on Chromosome 20. Is this a benign change or a disease-causing variant?
Pathogenic; Pseudohypoparathyroidism type I A
AACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGAAATTCTGGAACCTTCTTAGCATAATCCACATGAGATTGTCACAGCTCTAGCCACATATCCATCAAAATTAGAAAACACAAAAT
AACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTGAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGAAATTCTGGAACCTTCTTAGCATAATCCACATGAGATTGTCACAGCTCTAGCCACATATCCATCAAAATTAGAAAACACAAAAT
Task1_train_28013
A variant found in Chromosome 20 affects GNAS (GNAS complex locus). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Pseudohypoparathyroidism type 1C
TCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGAAATTCTGGAACCTTCTTAGCATAATCCACATGAGATTGTCACAGCTCTAGCCACATATCCATCAAAATTAGAAAACACAAAATTCCCAGGCCAGAG
TCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCGTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGAAATTCTGGAACCTTCTTAGCATAATCCACATGAGATTGTCACAGCTCTAGCCACATATCCATCAAAATTAGAAAACACAAAATTCCCAGGCCAGAG
Task1_train_28014
A variant was discovered on Chromosome 20, affecting GNAS (GNAS complex locus). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Pseudohypoparathyroidism type I A
GCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGAAATTCTGGAACCTTCTTAGCATAATCCACATGAGATTGTCACAGCTCTAGCCACATATCCATCAAAATTAGAAAACACAAAATTCCCAGGCCAGAGATGCCAAGGAA
GCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACAAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGAAATTCTGGAACCTTCTTAGCATAATCCACATGAGATTGTCACAGCTCTAGCCACATATCCATCAAAATTAGAAAACACAAAATTCCCAGGCCAGAGATGCCAAGGAA
Task1_train_28015
The following genetic variant occurs in TUBB1 (tubulin beta 1 class VI) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Macrothrombocytopenia, isolated, 1, autosomal dominant
ATTAGTTGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACAGATAAGACTCCATCAAAAAAAAAAAAAAAAAAGGCGCTAATTACTTAAAATCATGCACAGAGGTCCAAGTTATGGGCTGTTTGGAAAAGTTCATGAAAAGAAATCCCCAAAGTGAAATGAGTTATTACTGTGAAATCAGATAAGAATTCAGTTTATTTTCCTTTAATGGAATCTACACTTTACTAGCTTGGAGCATTATAAGGAGAAATTAGAGCTATATTGACATTAAATTCTAAAACAACAGCTTTAATGTATATAATGGCATGAATTTAATAGGAGGAAAATCCAATTTAGTACTTTGTGTTTGACATTTTATTTAAGGAGTTCAGGTGGGGAGAAAATGCAATCTTCATATTACTTCACATTGCTTAGTAGAGGCAAAAAGCGAATGATGCCATGGTTATTTATGAAAAGGCCCTAAAAGAATGTCTTGGGGAGGGTCAGGCAACCAGAGGGAAACAGGCTTGGGAATGCTAACTTTCTCTGTGGTTAACACAGCCTTTTTCGGGGTCCGTTTACTCTGACCTTCCTCCTGCTTTCAGTTCTGGGAGATGATTGGTGAGGAACACGGGATCGACTTGGCTGGGAGCGACCGCGGGGCCTCGGCCTTGCAGCTGGAGAGAATCAGCGTGTACTACAACGAAGCCTACGGTAGGACTGGCGGGGCTCTGGGAGCAGTGGTCCCGCAACTGGGAACACAAGCAGAGGAAGGGCAGAGGCCCAGGAGATGGAAATGTCAAAGCAGTGATGTCTATGCTCAGGGAGGCGACAGGCAGGGCAGCAGGATCCTAGAGTGGTGGGTCCCCAAGCCCTGGTCAAGACGCAGGAATGGGGAAGGAGCTGCTGGATATGGCACACACCTTAACACAAGCAGGTTAAGTACTCACTTTCCTTTGTGGTTTCACAAATGAAACCAGGATCATTTCCAATATGAAGGAAGAGAATCTCTGTCACTGGCAATATCACAGAGCAGACTGATGGAGATTGTTTCTGGGTATTCTATAGATTTGTGGGATTGTTGTTGGGGTAAAAAATATGATGTTAGATACTCAAATCTCGACCTACCAAGGGCCCCTTTCTAGAATATCCATGATTTTTTTTGGACCAGTATCACAAAGTTCTATTTTGATAAAACATTAACTTTTAGAAAAACAAGTAGGCTGACTTTTTCCTATTTTTCTACACAGGTAGGAAATATGTGCCCCGAGCAGTCTTGGTGGACCTAGAACCTGGGACGATGGACAGCATTCGATCTAGCAAATTAGGAGCTCTCTTTCAACCCGACAGTTTTGTCCATGGTATGTTTTTCCAGAAGGTTCCACCAGGAGGAGGGGGGGATGCTTTACTGGTGCCCTTCTCTTTTCACCTTTCTTCCCCTGCTGGTTTCTCTTTTTGGCCACAGGTAACTCTGGGGCTGGCAACAACTGGGCCAAAGGCCACTACACGGAGGGAGCCGAGCTGATCGAGAATGTCCTAGAGGTGGTGAGGCACGAGAGTGAGAGCTGTGACTGCCTGCAGGGCTTCCAGATCGTCCACTCCCTGGGCGGGGGCACAGGCTCCGGGATGGGCACTCTGCTCATGAACAAGATTAGAGAGGAGTACCCGGACCGGATCATGAATTCCTTCAGCGTCATGCCTTCTCCCAAGGTGTCGGACACTGTGGTGGAGCCCTACAACGCGGTTCTGTCTATCCACCAGCTGATTGAGAATGCAGATGCCTGTTTCTGCATTGACAATGAGGCCCTCTATGACATCTGCTTCCGTACCCTGAAGCTGACGACACCCACCTATGGGGATCTCAACCACCTAGTGTCCTTGACCATGAGCGGCATAACCACCTCCCTCCGGTTCCCGGGTCAGCTCAACGCAGACCTGCGCAAGCTGGCGGTGAACATGGTCCCCTTCCCCCGCCTGCACTTCTTTATGCCCGGCTTTGCCCCACTCACGGCCCAGGGCAGCCAGCAGTACCGAGCCCTCTCCGTGGCCGAGCTCACCCAGCAGATGTTCGATGCCCGCAATACCATGGCTGCCTGTGACCTCCGCCGTGGCCGCTACCTCACAGTGGCCTGCATTTTCCGGGGCAAGATGTCCACCAAGGAAGTGGACCAGCAACTGCTCTCCGTGCAGACCAGGAACAGCAGCTGCTTTGTGGAGTGGATTCCCAACAACGTCAAGGTGGCTGTCTGCGACATCCCGCCCCGGGGGCTGAGCATGGCCGCCACCTTCATTGGCAACAACACGGCCATCCAAGAGATCTTTAATAGGGTCTCTGAGCATTTCTCAGCCATGTTCAAAAGGAAAGCTTTTGTGCACTGGTACACCAGCGAAGGGATGGACATAAACGAATTTGGGGAAGCTGAAAATAACATCCATGATTTGGTATCCGAGTACCAACAATTTCAAGATGCCAAAGCAGTTCTAGAGGAAGATGAAGAGGTCACGGAGGAGGCAGAAATGGAGCCAGAAGATAAGGGACATTAACTGTGAGAGAAGCTGTGCCGCGGAGTCGCTTACAGAACAGTTTCTCATTAGATGAGTGTTTCTCCTGCAGCACTCCAAAACCCACTCTGCACTGCAGCACAGTGAATGATATGCACTCACCATTAGCTTCGACACAGGGACTGAGGGAGACAGGTGGGGAGCAGCTGACAGGCATTAGGGTCTTTGCTGACATCTACTAACCTTGAAGAGTTTGATGTTCAGTGCATACTTATTAACTTAAAAAAATAGCAAATTTATTGTAAAGTGCTCCCTTTGTTTCAAAGTGTTTGCCAGGCATCCAGACTACACGTGTGGATTTGCAGGGAGCCACTGGAGTTGGTGTTACATTTTTATACTTTAGCAGCACTGATAGGCACCCTGGAATCCTCACTTGGTATCCGAGGGCTACTAAGACTCTTTCCTTAGGTTCTTTCCTCTGAGCAAACACTGACTGGCATCCTGCTTTCCAGTGCCTGCCAGCCTCCAGAAGAGCCAGGTGCCTGACTAGTACATGGGGAGCTACAGAGCCAAGGTCAATGTGAGTCAACATCCACTAGAAATATCCATGTTGTGTAGACCTGTGCATACAACATGCTAACTGGAAAAGAGGAAAAAAGAAAAGCCACAGTCCTCTCCACAAAAATACCTGGTCCAAACAAGAAAAACAAAAAGACAAGCAAAACTAAAGAACTGCAGTCTTCTGATCTTTATTTCTGAAGAGCTAGCCTTTAACATATATGTTTATATAGTTTAAATTTCTTACTACTGTTAGATCCCAGGAATTCATTAATAATCATCCTTGGCTTTCCTTTTAAAGGCTATTTTGAAATGGTCTTTTCACTTTCATTCAGTCATCACCCCCCAAAATGCTCTGCAGCCTCTCTGCTCTTTGAGAAAGGGCACACCATGCGCTCGGCAACCATTCAAATGCAGGAATTAAGCAGCAATGGCTGCAGTGTCCTTCTCAGTTATGGAGGACATCGTCTCATTAGGGAACTTTTACAGTTCAAATTAATTTGCAGAAGTTGCCATAAATGTTTGCATAATGACATAGCTTTAAGCACTACATGATTTTAATCTGCTCACATTATAACAGGACCAAATACACAAGAGCGTAATCAAATCATCTGTAACTTCTTAATTACAGTTTACCTATTTCTGACATGCAGCACTGCCATCTCTTCCAGCACCATCAGGGTTTTAATGGCCCTCTAGAATTACCACTGAGATACACTATTTGATCCATGGATAACCGGTAATGGGAAAATGCTCCGACCCTCAATGCAGTAAATATTTACTTGCAGGCAACTGGGTTCTCATCTCTTGATTTGCTTTTGTAATCAGCAATAATAAAATAGCAGGTAGATGGATGACAGTTGCTCATTCTGAGAAACTTCACTCTTTTCACTTATGCATCACGAGGAAATAACTAAAATACATACCAAGAGAAAAATACCTTGCCATCGGATCATCAACAAGTCTTCTATTTACAAACTT
ATTAGTTGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACAGATAAGACTCCATCAAAAAAAAAAAAAAAAAAGGCGCTAATTACTTAAAATCATGCACAGAGGTCCAAGTTATGGGCTGTTTGGAAAAGTTCATGAAAAGAAATCCCCAAAGTGAAATGAGTTATTACTGTGAAATCAGATAAGAATTCAGTTTATTTTCCTTTAATGGAATCTACACTTTACTAGCTTGGAGCATTATAAGGAGAAATTAGAGCTATATTGACATTAAATTCTAAAACAACAGCTTTAATGTATATAATGGCATGAATTTAATAGGAGGAAAATCCAATTTAGTACTTTGTGTTTGACATTTTATTTAAGGAGTTCAGGTGGGGAGAAAATGCAATCTTCATATTACTTCACATTGCTTAGTAGAGGCAAAAAGCGAATGATGCCATGGTTATTTATGAAAAGGCCCTAAAAGAATGTCTTGGGGAGGGTCAGGCAACCAGAGGGAAACAGGCTTGGGAATGCTAACTTTCTCTGTGGTTAACACAGCCTTTTTCGGGGTCCGTTTACTCTGACCTTCCTCCTGCTTTCAGTTCTGGGAGATGATTGGTGAGGAACACGGGATCGACTTGGCTGGGAGCGACCGCGGGGCCTCGGCCTTGCAGCTGGAGAGAATCAGCGTGTACTACAACGAAGCCTACGGTAGGACTGGCGGGGCTCTGGGAGCAGTGGTCCCGCAACTGGGAACACAAGCAGAGGAAGGGCAGAGGCCCAGGAGATGGAAATGTCAAAGCAGTGATGTCTATGCTCAGGGAGGCGACAGGCAGGGCAGCAGGATCCTAGAGTGGTGGGTCCCCAAGCCCTGGTCAAGACGCAGGAATGGGGAAGGAGCTGCTGGATATGGCACACACCTTAACACAAGCAGGTTAAGTACTCACTTTCCTTTGTGGTTTCACAAATGAAACCAGGATCATTTCCAATATGAAGGAAGAGAATCTCTGTCACTGGCAATATCACAGAGCAGACTGATGGAGATTGTTTCTGGGTATTCTATAGATTTGTGGGATTGTTGTTGGGGTAAAAAATATGATGTTAGATACTCAAATCTCGACCTACCAAGGGCCCCTTTCTAGAATATCCATGATTTTTTTTGGACCAGTATCACAAAGTTCTATTTTGATAAAACATTAACTTTTAGAAAAACAAGTAGGCTGACTTTTTCCTATTTTTCTACACAGGTAGGAAATATGTGCCCCGAGCAGTCTTGGTGGACCTAGAACCTGGGACGATGGACAGCATTCGATCTAGCAAATTAGGAGCTCTCTTTCAACCCGACAGTTTTGTCCATGGTATGTTTTTCCAGAAGGTTCCACCAGGAGGAGGGGGGGATGCTTTACTGGTGCCCTTCTCTTTTCACCTTTCTTCCCCTGCTGGTTTCTCTTTTTGGCCACAGGTAACTCTGGGGCTGGCAACAACTGGGCCAAAGGCCACTACACGGAGGGAGCCGAGCTGATCGAGAATGTCCTAGAGGTGGTGAGGCACGAGAGTGAGAGCTGTGACTGCCTGCAGGGCTTCCAGATCGTCCACTCCCTGGGCGGGGGCACAGGCTCCGGGATGGGCACTCTGCTCATGAACAAGATTAGAGAGGAGTACCCGGACCGGATCATGAATTCCTTCAGCGTCATGCCTTCTCCCAAGGTGTCGGACACTGTGGTGGAGCCCTACAACGCGGTTCTGTCTATCCACCAGCTGATTGAGAATGCAGATGCCTGTTTCTGCATTGACAATGAGGCCCTCTATGACATCTGCTTCCGTACCCTGAAGCTGACGACACCCACCTATGGGGATCTCAACCACCTAGTGTCCTTGACCATGAGCGGCATAACCACCTCCCTCCGGTTCCCGGGTCAGCTCAACGCAGACCTGCGCAAGCTGGCGGTGAACATGGTCCCCTTCCCCCGCCTGCACTTCTTTATGCCCGACTTTGCCCCACTCACGGCCCAGGGCAGCCAGCAGTACCGAGCCCTCTCCGTGGCCGAGCTCACCCAGCAGATGTTCGATGCCCGCAATACCATGGCTGCCTGTGACCTCCGCCGTGGCCGCTACCTCACAGTGGCCTGCATTTTCCGGGGCAAGATGTCCACCAAGGAAGTGGACCAGCAACTGCTCTCCGTGCAGACCAGGAACAGCAGCTGCTTTGTGGAGTGGATTCCCAACAACGTCAAGGTGGCTGTCTGCGACATCCCGCCCCGGGGGCTGAGCATGGCCGCCACCTTCATTGGCAACAACACGGCCATCCAAGAGATCTTTAATAGGGTCTCTGAGCATTTCTCAGCCATGTTCAAAAGGAAAGCTTTTGTGCACTGGTACACCAGCGAAGGGATGGACATAAACGAATTTGGGGAAGCTGAAAATAACATCCATGATTTGGTATCCGAGTACCAACAATTTCAAGATGCCAAAGCAGTTCTAGAGGAAGATGAAGAGGTCACGGAGGAGGCAGAAATGGAGCCAGAAGATAAGGGACATTAACTGTGAGAGAAGCTGTGCCGCGGAGTCGCTTACAGAACAGTTTCTCATTAGATGAGTGTTTCTCCTGCAGCACTCCAAAACCCACTCTGCACTGCAGCACAGTGAATGATATGCACTCACCATTAGCTTCGACACAGGGACTGAGGGAGACAGGTGGGGAGCAGCTGACAGGCATTAGGGTCTTTGCTGACATCTACTAACCTTGAAGAGTTTGATGTTCAGTGCATACTTATTAACTTAAAAAAATAGCAAATTTATTGTAAAGTGCTCCCTTTGTTTCAAAGTGTTTGCCAGGCATCCAGACTACACGTGTGGATTTGCAGGGAGCCACTGGAGTTGGTGTTACATTTTTATACTTTAGCAGCACTGATAGGCACCCTGGAATCCTCACTTGGTATCCGAGGGCTACTAAGACTCTTTCCTTAGGTTCTTTCCTCTGAGCAAACACTGACTGGCATCCTGCTTTCCAGTGCCTGCCAGCCTCCAGAAGAGCCAGGTGCCTGACTAGTACATGGGGAGCTACAGAGCCAAGGTCAATGTGAGTCAACATCCACTAGAAATATCCATGTTGTGTAGACCTGTGCATACAACATGCTAACTGGAAAAGAGGAAAAAAGAAAAGCCACAGTCCTCTCCACAAAAATACCTGGTCCAAACAAGAAAAACAAAAAGACAAGCAAAACTAAAGAACTGCAGTCTTCTGATCTTTATTTCTGAAGAGCTAGCCTTTAACATATATGTTTATATAGTTTAAATTTCTTACTACTGTTAGATCCCAGGAATTCATTAATAATCATCCTTGGCTTTCCTTTTAAAGGCTATTTTGAAATGGTCTTTTCACTTTCATTCAGTCATCACCCCCCAAAATGCTCTGCAGCCTCTCTGCTCTTTGAGAAAGGGCACACCATGCGCTCGGCAACCATTCAAATGCAGGAATTAAGCAGCAATGGCTGCAGTGTCCTTCTCAGTTATGGAGGACATCGTCTCATTAGGGAACTTTTACAGTTCAAATTAATTTGCAGAAGTTGCCATAAATGTTTGCATAATGACATAGCTTTAAGCACTACATGATTTTAATCTGCTCACATTATAACAGGACCAAATACACAAGAGCGTAATCAAATCATCTGTAACTTCTTAATTACAGTTTACCTATTTCTGACATGCAGCACTGCCATCTCTTCCAGCACCATCAGGGTTTTAATGGCCCTCTAGAATTACCACTGAGATACACTATTTGATCCATGGATAACCGGTAATGGGAAAATGCTCCGACCCTCAATGCAGTAAATATTTACTTGCAGGCAACTGGGTTCTCATCTCTTGATTTGCTTTTGTAATCAGCAATAATAAAATAGCAGGTAGATGGATGACAGTTGCTCATTCTGAGAAACTTCACTCTTTTCACTTATGCATCACGAGGAAATAACTAAAATACATACCAAGAGAAAAATACCTTGCCATCGGATCATCAACAAGTCTTCTATTTACAAACTT
Task1_train_28016
This variant affects gene ATP5F1E, SLMO2-ATP5E (ATP synthase F1 subunit epsilon| SLMO2-ATP5E readthrough) located on Chromosome 20. Evaluate its biological effect and specify any disease association.
Pathogenic; Mitochondrial complex V (ATP synthase) deficiency nuclear type 3
TTTAGTATTTAATAATTATTTCCATTTGTTACTGATAACCATGTCATTATTCTGACATGACAACAATTCAAAAATAAGGGACTACGAAGCCTCAATGACAGCAGATAATTTTGATCACCAATTAATGTCATGAAACAACTATTTTGAGACATTTTCAAAATGCTTTCTGTATCCCTTTGGTCACTAAATATTAAATCTGGCTTCCCCTGCTTTTAAGAAACCCTGGTTCACATGGCCATAATCATGCAGCTGTGCAGACAGTTCCTTTAAAGAAAATGAAAAAGTCTCACAAACTAAAATCAAGAGTAACAGTGAACCATATTTCAATTTATTGACATTGTCAATTTATGAACAAGACAGGATTTTTTTTTTTCCCATGGAATGAGATCCTTTTCAATCTGCCATAACATGTGCCCACACATCTTCACCTTGGAAATGTAGCATTTCAAGCTTTAGTCAGGGTCTAGGAGGAAAAAGAAAATGCAAGTTGCTGGCTAGTTCTCTGTGTTTTCTTAAAAACTCAACATGAATATAAGAAATAACTTCCTTATAGTGAACTGTATAACTGTGGCTATCATTCACATTGCCGTGGCTCAGATGTAAAAAGTGCTGGTTCAAGTACACAGGCTTAGTCAAGCAGGCATTTTCCTGCTGAGTAAAAGTAAACACTCTCCCAGAATAAAGAAACTACTTTGCCTTTAAAAGACACTAACATCTCCTTGTGCTAATGAGGTGGGGTCTGTAACCCTGAAGGGCATAACAGAGAGGGGCTAATGCTTTGTTTAAGGGGATCGGACACTACTTCCTGACCCCCAGGACTTTGCAAAATCTCAGCATTAGATGCAGTCTGGCAGCTCTGAGCCGAGTGAGGCTAAATGATTTTCTGTTAGCTTACTGTTAAAACAAAACAACCCAACATAAAACCAGGTCTCATTACTCAGAATTATGAGATTAGACAGAGAGCCCCTAGAAAAAGGGCTAAATTCAAAACACTGCATCTCCAGACTTGTAATAAAATATTTACTAATTCAAAATGAAAATGAAAAGTGCTTAGGGGAGACAGTTCCAATAAGTAAAATTGCTCATAACCATAAGCTGCCAAAGGATTAATATTTATCACATTTCTGTGCTATTATGGGTCTGAAGCTTTTTAAAAGCAAAACAAGAAAAATTAAATCTGAAAAACATCTCTCTGATAATTTGCCTTGCCTACTTTTGAAATAACAATGTCAAGAAAGTACTTTAGAGATCAAACCACTTTTATAATGTGGAACACAAAAGTCTACACTTATCAACTGTACAGACCTTTTTATTTCACGAGAATTTAACTTTACATCACCAACATCTTTGGAAAAGTAAAATGAACCAAACCCTCTGAAAGCATAATAAATTAGCAAAACAGTATTCGCTGCGGGGTCTTGCAGATTTTATTGCTTGATACAACAGCAGGACCCTTGCCTGTGCCTGTAGTTATTATGTTCGGGAAGTAGTGATTTGTGAGAACATTAGTGGTTGTGGGGGAAATAAAAATGTAAAGAACTGTAGTTTTTCATGCTCTTGGACTGTTATGTAACTCCAATTGCAATTATACAAGTGGGGAGTTCATCCTCCAAATTATTTGATTTGTGCAGACAAATGAAACAGGTTTAATTCAAATACGATGGCTCTCTACCTAAGCATTGCTAAATGAACTGAAAATCAATGTGCCAATTACTTCTGCTTGTCAGGGCCCAAGAAGACTTTCTTTTTATTAGGCCAGGGGACTTCTATAACCTGCATGCTTTAAATTATACCATCCCAATAACTAACTTCCAAATACACTGACTAAAAAATGAATAGAACCCAAAACTAAAATTATTTTGATCTTTATGGTGCTCCAAAAACTTAAGATGCAACTGTTCTTCTAAATAAATCCATAACTTACAGATTATTCCTTCTTTACTTTCACAATTTTTACGTTGCTGCCAGAAGTCTTCTCAGCATTTGCTTTGAATTCTGTCTTCAGTGCATCTCTCACTGCTTTTGCACAGATCTGGGAGTATCGGATGTAGCTGGGAGAAAATGAGAGAAGGTATATGGTTAATTATCAATATTCCAGCCAGACAGCTGTTACTGTGTTTTCGCTTTTCTTCCTGTACTTTTTATTTTGGTTTGGTTGTACCTTATTGTAGAATTGGATTTAAAAATATGACTAATGCCAAAAAGTATCTATACAAAGAAAAAGAACTAGAAAAAAATGTACCAAAGTATTAACTGGTGTTTGGATGGATGATCTTTGATTTTTCTTCTTTGTACTGTGTTTTCTCTTTAGTGTATATTAATTCAAAATGAAAGATGCATAAATGTTTTTAAAAATCCCACAGCATAGAAAAAAAGAGACTGAAATGTTTAGAGACTATAACATGAATCATGAATTCTCTCCTCGATTTCTCTCCTTAAAACTTTAATTATATTATTCTTGGAAAATGAGGTATACATAAGAGAAAACTATTTTGAATTAAAACAATTCGTTCTAAATTATTTAAACTCTTCTCTGAGAATACTGAATTCTGTCTCACAAGTCTGCCACTGAAAATAACCTCCTAATGAAGATTTCTAAATCAAACTGAAAAGTGCTTAGAGAACATCATCAATTCTAGCAAAACTGTAAAACCTGCTTCCTGTTTGGTAGATGGACTCCCATCAACACTGTAGTTTCCAAAAGATGTCAGATCACCTTTCCCACTTTTGAAAAACAGGAAGCGGGGAGGGGTGCTATTTTCTCATGTTTTAGAATTTATTTTGGGGACTCAGAGGTATGAGTTCCAATGCCTGCTTCCATTCTTACTAACTGGGTGACCTTCAGGCTGTTCAACCTTTTCAGCACGTTTACTCACTCACCTGAAAAAAACAACAGAATAAAAGGACAATAATACCTGTCCTGCTGATAGCTGGGAGGAGGAAAAACAAGTGTGAAAAAGTATGGATCACAGGGTAGGTTGCCTAATAAACGGTATCTACTACTGGGACTATCATCCTTCCATCCTTCCAATTCTACAAGACTTCGCTGGCTTGACCTCAGCAAGTCGGGAAGCTCCGCTGTAGTGTACCCACAAAATGTAAAGTGCTACACCATCCAGTCAACTAACAAGGTGTGTCACCTAGAGCAAGGTACTTCTGCTCACTCAGGTGCACGGGTAAAAAAAAATCGGATGTGACAGCTAGACCAATGGTTTGCGGTTCCACTATGAGACACCATGTCCTCAAGTGGGTTCCATATTTGAGCTTTCCAGGAGCCACCTCTCATCTTTGTGAGGGGCTCTCGACAGTTATGGCTTTCACCCCTTTTAGACATAAGGAAACCTGAAATCAACAGGACTTAAAAGTTTAAAAAAAAAATGTGTAAAGTTGTAAAAGGCTCCACCTCGATGCTGGATTAAAGGTCAAAGCTGCTAACGGCGGTCACGTGGAGAGAAATCTCCTGTTTCCCGAGGTGGATGTGACTGTACTACTTTCACCACCTGGCTCCAGCACCATTCTAGAAGAAAAAGGTTTGCTAAATAAGAGCTGGCCTCTCTCTCGAGAAACCTGCCATTCACAAAGGTGTCCAGGGGCACTCTGTGGGTGCTGGGCCGCACCGTCGGGAAGCGAGGCAGGACACAGACGCGCTCCCACGCGAGGTCGAGGCCGCGCCCGCCTGAGCGCTTTGCCCACAGCGACGCCATCTTGGCGGCGACGCCCGAGGCTTGGCCCAACCCCGGTCACGCGTGGGGCCGCTGCTCTGTGTCCTGCATGACCTCTGGGCACCGGGATGCGCGCGGGCCGGCTCGCGAAGCCCTTCCCTCTGGAGGCCTGGGCCTACCTGAGTCCAGCCTGTCTCCAGTAGGCCACCATGCTGTAGCGAAAGCGGAGCTCGTCGGGCCGAATCGCCAAGACGCCGGCAATGTCGGCTCAGCCGGGCGGTTCAGCCGCAGGAAGATCAGACCACAGAAGCGGAAGAGGCGGGGCGTGCGGACCTGCCAATCACCGCCTCCTACCCGGCCCCGCCCCTGAGCACGGCCCCTGCTGCCCTGCCGCGGAAGCCCCCCGGCGCCGGGAGCCAATGGGCGCGCGCGGT
TTTAGTATTTAATAATTATTTCCATTTGTTACTGATAACCATGTCATTATTCTGACATGACAACAATTCAAAAATAAGGGACTACGAAGCCTCAATGACAGCAGATAATTTTGATCACCAATTAATGTCATGAAACAACTATTTTGAGACATTTTCAAAATGCTTTCTGTATCCCTTTGGTCACTAAATATTAAATCTGGCTTCCCCTGCTTTTAAGAAACCCTGGTTCACATGGCCATAATCATGCAGCTGTGCAGACAGTTCCTTTAAAGAAAATGAAAAAGTCTCACAAACTAAAATCAAGAGTAACAGTGAACCATATTTCAATTTATTGACATTGTCAATTTATGAACAAGACAGGATTTTTTTTTTTCCCATGGAATGAGATCCTTTTCAATCTGCCATAACATGTGCCCACACATCTTCACCTTGGAAATGTAGCATTTCAAGCTTTAGTCAGGGTCTAGGAGGAAAAAGAAAATGCAAGTTGCTGGCTAGTTCTCTGTGTTTTCTTAAAAACTCAACATGAATATAAGAAATAACTTCCTTATAGTGAACTGTATAACTGTGGCTATCATTCACATTGCCGTGGCTCAGATGTAAAAAGTGCTGGTTCAAGTACACAGGCTTAGTCAAGCAGGCATTTTCCTGCTGAGTAAAAGTAAACACTCTCCCAGAATAAAGAAACTACTTTGCCTTTAAAAGACACTAACATCTCCTTGTGCTAATGAGGTGGGGTCTGTAACCCTGAAGGGCATAACAGAGAGGGGCTAATGCTTTGTTTAAGGGGATCGGACACTACTTCCTGACCCCCAGGACTTTGCAAAATCTCAGCATTAGATGCAGTCTGGCAGCTCTGAGCCGAGTGAGGCTAAATGATTTTCTGTTAGCTTACTGTTAAAACAAAACAACCCAACATAAAACCAGGTCTCATTACTCAGAATTATGAGATTAGACAGAGAGCCCCTAGAAAAAGGGCTAAATTCAAAACACTGCATCTCCAGACTTGTAATAAAATATTTACTAATTCAAAATGAAAATGAAAAGTGCTTAGGGGAGACAGTTCCAATAAGTAAAATTGCTCATAACCATAAGCTGCCAAAGGATTAATATTTATCACATTTCTGTGCTATTATGGGTCTGAAGCTTTTTAAAAGCAAAACAAGAAAAATTAAATCTGAAAAACATCTCTCTGATAATTTGCCTTGCCTACTTTTGAAATAACAATGTCAAGAAAGTACTTTAGAGATCAAACCACTTTTATAATGTGGAACACAAAAGTCTACACTTATCAACTGTACAGACCTTTTTATTTCACGAGAATTTAACTTTACATCACCAACATCTTTGGAAAAGTAAAATGAACCAAACCCTCTGAAAGCATAATAAATTAGCAAAACAGTATTCGCTGCGGGGTCTTGCAGATTTTATTGCTTGATACAACAGCAGGACCCTTGCCTGTGCCTGTAGTTATTATGTTCGGGAAGTAGTGATTTGTGAGAACATTAGTGGTTGTGGGGGAAATAAAAATGTAAAGAACTGTAGTTTTTCATGCTCTTGGACTGTTATGTAACTCCAATTGCAATTATACAAGTGGGGAGTTCATCCTCCAAATTATTTGATTTGTGCAGACAAATGAAACAGGTTTAATTCAAATACGATGGCTCTCTACCTAAGCATTGCTAAATGAACTGAAAATCAATGTGCCAATTACTTCTGCTTGTCAGGGCCCAAGAAGACTTTCTTTTTATTAGGCCAGGGGACTTCTATAACCTGCATGCTTTAAATTATACCATCCCAATAACTAACTTCCAAATACACTGACTAAAAAATGAATAGAACCCAAAACTAAAATTATTTTGATCTTTATGGTGCTCCAAAAACTTAAGATGCAACTGTTCTTCTAAATAAATCCATAACTTACAGATTATTCCTTCTTTACTTTCACAATTTTTACGTTGCTGCCAGAAGTCTTCTCAGCATTTGCTTTGAATTCTGTCTTCAGTGCATCTCTCACTGCTTTTGCACAGATCTGGGAGTATCGGATGCAGCTGGGAGAAAATGAGAGAAGGTATATGGTTAATTATCAATATTCCAGCCAGACAGCTGTTACTGTGTTTTCGCTTTTCTTCCTGTACTTTTTATTTTGGTTTGGTTGTACCTTATTGTAGAATTGGATTTAAAAATATGACTAATGCCAAAAAGTATCTATACAAAGAAAAAGAACTAGAAAAAAATGTACCAAAGTATTAACTGGTGTTTGGATGGATGATCTTTGATTTTTCTTCTTTGTACTGTGTTTTCTCTTTAGTGTATATTAATTCAAAATGAAAGATGCATAAATGTTTTTAAAAATCCCACAGCATAGAAAAAAAGAGACTGAAATGTTTAGAGACTATAACATGAATCATGAATTCTCTCCTCGATTTCTCTCCTTAAAACTTTAATTATATTATTCTTGGAAAATGAGGTATACATAAGAGAAAACTATTTTGAATTAAAACAATTCGTTCTAAATTATTTAAACTCTTCTCTGAGAATACTGAATTCTGTCTCACAAGTCTGCCACTGAAAATAACCTCCTAATGAAGATTTCTAAATCAAACTGAAAAGTGCTTAGAGAACATCATCAATTCTAGCAAAACTGTAAAACCTGCTTCCTGTTTGGTAGATGGACTCCCATCAACACTGTAGTTTCCAAAAGATGTCAGATCACCTTTCCCACTTTTGAAAAACAGGAAGCGGGGAGGGGTGCTATTTTCTCATGTTTTAGAATTTATTTTGGGGACTCAGAGGTATGAGTTCCAATGCCTGCTTCCATTCTTACTAACTGGGTGACCTTCAGGCTGTTCAACCTTTTCAGCACGTTTACTCACTCACCTGAAAAAAACAACAGAATAAAAGGACAATAATACCTGTCCTGCTGATAGCTGGGAGGAGGAAAAACAAGTGTGAAAAAGTATGGATCACAGGGTAGGTTGCCTAATAAACGGTATCTACTACTGGGACTATCATCCTTCCATCCTTCCAATTCTACAAGACTTCGCTGGCTTGACCTCAGCAAGTCGGGAAGCTCCGCTGTAGTGTACCCACAAAATGTAAAGTGCTACACCATCCAGTCAACTAACAAGGTGTGTCACCTAGAGCAAGGTACTTCTGCTCACTCAGGTGCACGGGTAAAAAAAAATCGGATGTGACAGCTAGACCAATGGTTTGCGGTTCCACTATGAGACACCATGTCCTCAAGTGGGTTCCATATTTGAGCTTTCCAGGAGCCACCTCTCATCTTTGTGAGGGGCTCTCGACAGTTATGGCTTTCACCCCTTTTAGACATAAGGAAACCTGAAATCAACAGGACTTAAAAGTTTAAAAAAAAAATGTGTAAAGTTGTAAAAGGCTCCACCTCGATGCTGGATTAAAGGTCAAAGCTGCTAACGGCGGTCACGTGGAGAGAAATCTCCTGTTTCCCGAGGTGGATGTGACTGTACTACTTTCACCACCTGGCTCCAGCACCATTCTAGAAGAAAAAGGTTTGCTAAATAAGAGCTGGCCTCTCTCTCGAGAAACCTGCCATTCACAAAGGTGTCCAGGGGCACTCTGTGGGTGCTGGGCCGCACCGTCGGGAAGCGAGGCAGGACACAGACGCGCTCCCACGCGAGGTCGAGGCCGCGCCCGCCTGAGCGCTTTGCCCACAGCGACGCCATCTTGGCGGCGACGCCCGAGGCTTGGCCCAACCCCGGTCACGCGTGGGGCCGCTGCTCTGTGTCCTGCATGACCTCTGGGCACCGGGATGCGCGCGGGCCGGCTCGCGAAGCCCTTCCCTCTGGAGGCCTGGGCCTACCTGAGTCCAGCCTGTCTCCAGTAGGCCACCATGCTGTAGCGAAAGCGGAGCTCGTCGGGCCGAATCGCCAAGACGCCGGCAATGTCGGCTCAGCCGGGCGGTTCAGCCGCAGGAAGATCAGACCACAGAAGCGGAAGAGGCGGGGCGTGCGGACCTGCCAATCACCGCCTCCTACCCGGCCCCGCCCCTGAGCACGGCCCCTGCTGCCCTGCCGCGGAAGCCCCCCGGCGCCGGGAGCCAATGGGCGCGCGCGGT
Task1_train_28017
This genomic variant is located on Chromosome 20, within the EDN3 (endothelin 3) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Waardenburg syndrome type 4B
TAGAGATGAGGTCTCGCTATGTTGCCCAGGCTGGTCTTGAACTCCCAGGCTCAAGCAATCCATCCACCTTGGCCTCTCAAAGAGCTGGAATTACAGATGTGAAGCACTGCCCCTCCCCCAACCCCATCTGTTATGAAAGGAGGGTCCTTTGACCACAAGTGCCCTGAGAAGTCAGGAGGACTTCCCAGTCTCAGACATTTTTATCTGAGCTGGAGATGGGGACAGCCTCCCACACACAGGACTTGGAAGGCTATGAAGGAAGTAGGGGGCTCTCTTGGGAGGTCATTTCCCTTGGTAGGGACGGTTGTGTGAATGAACTTGGCCTTTAGGGAGAGGAGCCCGACTCTCACCTGAAGCCACCCAACCTGTGCAGATGGCTGAGGAAGCCCTGGACACCACAGGACCGCTAACCCAGGATCTTTGTTGACTTTGCTCCCAGGCCACTGCCCCACACGCAGGCTCTGAACTCCTGGGAGAGGTAGGGAGCCAGCCCGAGGCGTGAGTCAAGAGTGTAAAGTACACCGAGTTCCTTGGCAAGCAGGCTCTTCAAGGGGAAGGTGTCACTCGGGGAACAATGAGAAATGTGTCTTTCCCTCAGCCCCTGATAGAAAAGATAACACCCCTTGAGCACAGCCTTTTCTCATCTGTTCTTGCTCTTGGATGGGGGGCTGCTACTCCGGAGCGGCGAACTGGCGGGCGGGGGTGCGCCTGTGAGTGTGAGCGCGCGTGTGCGTGTGTGCGCGCGCTCTCGTGGCCTTCCGGCAGCTGGCAGCTGTCCCGGCCCCCACCCCACCCTACCCCACCCCACCCAGCCGCGCCACGCCACGCCGCCCCCGCCCCTCGCTGTCCTGGGTGCGCCTCGGGCCGCTGCGCTCCTGGCCAGCTCCCCCCAGCGCCTGGGAGGCGACCCCCAGTGCGCCCGGGTTCAAAGGCCCGGCGAGGCAGTTCCAGCCCCTCTGGGGGGCGGGGAGGCGACGGGGGTGGTGCAGAAGCCAGAAAAGCCCGAGCCACAGCCGGCCAGCTCCGCGCAGGGATGGGCAGCGCGCTCTGAAAGTTTATGACCGCCGCAGCCAACTCCTGGCCGGAGCTGGAGACGCAGCGAGCGATCGGCCGGCCTCGAACCCCCACAGCTGGAGGGCGAGGCCAGCTGTACCCGGCCCCAGTGCCCTTTCGCGGCCACAAGCGGCCGTCCTCCTGGTCCGGTGCTCCGGCGCCTGATCTAGGTTCATGGAGCCGGGGCTGTGGCTCCTTTTCGGGCTCACAGTGACCTCCGCCGCAGGTAAGCGCACGGGGCGGCGCGCCTCTCCTGGCGCGAGCGCACACAAAAGGACCCAGGGCGGGGGACCCGAGGCGCGGAGAAGATGTGCGTCGCGGGGAGCAAACTCTTGCCTGGGCTCTGCACTCGTGAAGACGCCTGGGGGAGGGCTGGGGAGCAGAAGCGGCGCGCAACGACTACCCGCACGGGCTCCGGGAGTTGCAGCCCGCGCACTGGCTGGAGACCTGCTGCCTGGGCCGACTTGGTCAATTTTTCATGAAACTGGGGACTTTTCAGAAAGTTTGCGAACTATTCAGAGGCTGTGCCAAACCCTGGCAAAGTTTGCAGAAAGTATGCAAAATGCATGCAAGTTTTCAACGGGTGCAGATAGCTTGCAAGCTTTTCACAGAGTGTGCAGATAGCTTGGAAACTTTTCAGAAACTGCGCAGAGCTTTGGAAACTTTGCAGACATTTTGCTTGCTCCACCCCCCTCCTCAGGTGTTTGGGGGTGGCGGGTGTTGAGGGGTCTGCACACTCAGCTTAGGAGCCCCTCAATCTGCCTTCTGCAGGATTCGTGCCTTGCTCCCAGTCTGGGGATGCTGGCAGGCGCGGCGTGTCCCAGGCCCCCACTGCAGCCAGATCTGAGGGGGACTGTGAAGAGACTGTGGCTGGCCCTGGCGAGGAGACTGTGGCTGGCCCTGGCGAGGGGACTGTGGCCCCGACAGCACTGCAGGGTCCAAGCCCTGGAAGCCCTGGGCAGGAGCAGGCGGCCGAGGGGGCCCCTGAGCACCACCGATCCAGGCGCTGCACGTGCTTCACCTACAAGGACAAGGAGTGTGTCTACTATTGCCACCTGGACATCATTTGGATCAACACTCCCGAGTAAGTCAGCCTTTTGTGGTGAGGAACGTGGCTCCCGGACCAGGCCCACATCTGCTCATTCCCAGGAGGACCTCACTCCACCCCAGCCCCGCTCAGTTAGCCCAGAGCCTGCCCTGGCACAGCCTTTAGCTCTTGCTGGGGCCTCTTGCCAGCCCAGGTCTCTTCTGCAGGTCAGGGGTGTGACCCACATCCCCCCTGAGGGCCTGGCCCAAGAGAAACTCAATCCTGAGTTTGATCCTGTGGAAGGAGGAGCCCTCCCTCTGAATGAAGTGAACTGACCAGGGGGATTAGATACCTGAGATGTCTCTCTGAGCCTCTTTTCTGAGATAGAGAAAGCCCCGAAAGTTTATCTCATTCCCCAGGGGCCAAGGGGGCTCATACTCACTGTTGACCCCACCAGGATCCAAGGGGTTTAAAATTCCTTGAAAGCATCCTGGTCTCCAGGGAGTCTAAGGGTGGGTTTAGCTGAGCCTGACAGAACCTGCACAGTCCACTCGGGGTAGAATTCCCCTGGGATGGGCTCCCTTCCTTCCTGTGGGCCCCCCTGGATGCCAAGGCAGGGTGAATTCACATCAGCTCGTCCTTGGGCCTTCCACAGGCTGGCTCCAGTCACCCACTGCCATGGTCACAGAGGGCCTTCCCTTCTCTCCTGCAGTCCTTAGAAACTCTCTTACCCTAGGGCCTAGACAGCACCATCCTGAATTTGTCTTGGGGTTCGTCCAGTGGGGAAGTCAGCCTTCTCCTGGGGCCATGTGGAGAGAGTGTGGCTCTGACAGGGGGAGGCTTTGATGACTCCCAGTGTTCAGGGAACCCCTCCTGCAGGCACATCATCTTGCAGGCCATACAGAGGGCTTGACCTTGCCTGGGTCACCAACTCTCTGGCATTGGCTTCCCCATCTCTAAGATCTGGGACTTGGATCAGACACCTCTAAGTTCTGTTCCCTGGGTGTTCATGGGATCTCTTGGGACTCTTGCTTGTACCCTATTAGGGATTCTTAGCTGAGAACTCAGAGATGGTTGTGAATGCAAGCCCCTGGAAGCCTGGAAAGGCACCTTTGCCACCGTGTCCCGGAGCCGTCTTGATTCAGGTTCCTCACGGTCACCTTTATCCCCAAGCCCCATAACCTCTGAGCCCTTGGTAGCAGCTTTCATGGGGCTCACTTACCTACCTTGTGTCATCGGCACCTCAAAAATGAAGTGCAGACGAGGGTAGTAAACCTGAGGGGTGGAATGTCTTTCAGACCAGGGGACAAGACCTCTAATCACATCCATGATAGATCTGGAACATCACCCCACCATGCTTGAAGGGCAGGCAGGGGCTTCACATTGAGCCAGCAGGACACGTGCACAAAGTCCTGCACTCAGAAAGACTCTGGCTCGGCTTAAAGTCCTGCTGTCACTGTCTTGAAATCCTTAATACTTTCTGAACAAAGAGCTGCACATTTGCATTTTCTCCTGGGTCCCATAAATTCTGTAGCTGGTCGTGATACCCTGATTTGCTGGCTGGGCTGTGTCCACCTAGAGGATGGGAGGTGCCTCCCTGTTTCTTTCCCTTTGTGGGGAAGATAGAAGCTGTGAGTGTTGGGCCATCATCAATTGCCTCTTATCCTCAGATAGCGAGGGGAGTCACCTTTCCTTGTAGCCCCTGCACCTTGGCACTGCCCTTTCTGATTCTTATCCTGCATCATTGTGCTCTGATCAAATTCACTTCATAGAATGGAGGGCACTGGGCAGTCACCAGGAACCGAGTTCTTGTCTTGGCCAGAATCCCCAGCTGTGAATCTAGAAGGAGAAAGAAGAAAGCTAATGGAATTACAGACAGGAACCTGGGGTGGTGGGCAGGTGGGAGAGGATTTGGAAACCATCTCTTTCATTCGTTGCCTGTTTACCAAACCCCGGAGCACTGGCTGGGGAGGAAGTGATGACTTGAGACATGTCTGAGAGTCTCAACCAACACCC
TAGAGATGAGGTCTCGCTATGTTGCCCAGGCTGGTCTTGAACTCCCAGGCTCAAGCAATCCATCCACCTTGGCCTCTCAAAGAGCTGGAATTACAGATGTGAAGCACTGCCCCTCCCCCAACCCCATCTGTTATGAAAGGAGGGTCCTTTGACCACAAGTGCCCTGAGAAGTCAGGAGGACTTCCCAGTCTCAGACATTTTTATCTGAGCTGGAGATGGGGACAGCCTCCCACACACAGGACTTGGAAGGCTATGAAGGAAGTAGGGGGCTCTCTTGGGAGGTCATTTCCCTTGGTAGGGACGGTTGTGTGAATGAACTTGGCCTTTAGGGAGAGGAGCCCGACTCTCACCTGAAGCCACCCAACCTGTGCAGATGGCTGAGGAAGCCCTGGACACCACAGGACCGCTAACCCAGGATCTTTGTTGACTTTGCTCCCAGGCCACTGCCCCACACGCAGGCTCTGAACTCCTGGGAGAGGTAGGGAGCCAGCCCGAGGCGTGAGTCAAGAGTGTAAAGTACACCGAGTTCCTTGGCAAGCAGGCTCTTCAAGGGGAAGGTGTCACTCGGGGAACAATGAGAAATGTGTCTTTCCCTCAGCCCCTGATAGAAAAGATAACACCCCTTGAGCACAGCCTTTTCTCATCTGTTCTTGCTCTTGGATGGGGGGCTGCTACTCCGGAGCGGCGAACTGGCGGGCGGGGGTGCGCCTGTGAGTGTGAGCGCGCGTGTGCGTGTGTGCGCGCGCTCTCGTGGCCTTCCGGCAGCTGGCAGCTGTCCCGGCCCCCACCCCACCCTACCCCACCCCACCCAGCCGCGCCACGCCACGCCGCCCCCGCCCCTCGCTGTCCTGGGTGCGCCTCGGGCCGCTGCGCTCCTGGCCAGCTCCCCCCAGCGCCTGGGAGGCGACCCCCAGTGCGCCCGGGTTCAAAGGCCCGGCGAGGCAGTTCCAGCCCCTCTGGGGGGCGGGGAGGCGACGGGGGTGGTGCAGAAGCCAGAAAAGCCCGAGCCACAGCCGGCCAGCTCCGCGCAGGGATGGGCAGCGCGCTCTGAAAGTTTATGACCGCCGCAGCCAACTCCTGGCCGGAGCTGGAGACGCAGCGAGCGATCGGCCGGCCTCGAACCCCCACAGCTGGAGGGCGAGGCCAGCTGTACCCGGCCCCAGTGCCCTTTCGCGGCCACAAGCGGCCGTCCTCCTGGTCCGGTGCTCCGGCGCCTGATCTAGGTTCATGGAGCCGGGGCTGTGGCTCCTTTTCGGGCTCACAGTGACCTCCGCCGCAGGTAAGCGCACGGGGCGGCGCGCCTCTCCTGGCGCGAGCGCACACAAAAGGACCCAGGGCGGGGGACCCGAGGCGCGGAGAAGATGTGCGTCGCGGGGAGCAAACTCTTGCCTGGGCTCTGCACTCGTGAAGACGCCTGGGGGAGGGCTGGGGAGCAGAAGCGGCGCGCAACGACTACCCGCACGGGCTCCGGGAGTTGCAGCCCGCGCACTGGCTGGAGACCTGCTGCCTGGGCCGACTTGGTCAATTTTTCATGAAACTGGGGACTTTTCAGAAAGTTTGCGAACTATTCAGAGGCTGTGCCAAACCCTGGCAAAGTTTGCAGAAAGTATGCAAAATGCATGCAAGTTTTCAACGGGTGCAGATAGCTTGCAAGCTTTTCACAGAGTGTGCAGATAGCTTGGAAACTTTTCAGAAACTGCGCAGAGCTTTGGAAACTTTGCAGACATTTTGCTTGCTCCACCCCCCTCCTCAGGTGTTTGGGGGTGGCGGGTGTTGAGGGGTCTGCACACTCAGCTTAGGAGCCCCTCAATCTGCCTTCTGCAGGATTCGTGCCTTGCTCCCAGTCTGGGGATGCTGGCAGGCGCGGCGTGTCCCAGGCCCCCACTGCAGCCAGATCTGAGGGGGACTGTGAAGAGACTGTGGCTGGCCCTGGCGAGGAGACTGTGGCTGGCCCTGGCGAGGGGACTGTGGCCCCGACAGCACTGCAGGGTCCAAGCCCTGGAAGCCCTGGGCAGGAGCAGGCGGCCGAGGGGGCCCCTGAGCACCACGGATCCAGGCGCTGCACGTGCTTCACCTACAAGGACAAGGAGTGTGTCTACTATTGCCACCTGGACATCATTTGGATCAACACTCCCGAGTAAGTCAGCCTTTTGTGGTGAGGAACGTGGCTCCCGGACCAGGCCCACATCTGCTCATTCCCAGGAGGACCTCACTCCACCCCAGCCCCGCTCAGTTAGCCCAGAGCCTGCCCTGGCACAGCCTTTAGCTCTTGCTGGGGCCTCTTGCCAGCCCAGGTCTCTTCTGCAGGTCAGGGGTGTGACCCACATCCCCCCTGAGGGCCTGGCCCAAGAGAAACTCAATCCTGAGTTTGATCCTGTGGAAGGAGGAGCCCTCCCTCTGAATGAAGTGAACTGACCAGGGGGATTAGATACCTGAGATGTCTCTCTGAGCCTCTTTTCTGAGATAGAGAAAGCCCCGAAAGTTTATCTCATTCCCCAGGGGCCAAGGGGGCTCATACTCACTGTTGACCCCACCAGGATCCAAGGGGTTTAAAATTCCTTGAAAGCATCCTGGTCTCCAGGGAGTCTAAGGGTGGGTTTAGCTGAGCCTGACAGAACCTGCACAGTCCACTCGGGGTAGAATTCCCCTGGGATGGGCTCCCTTCCTTCCTGTGGGCCCCCCTGGATGCCAAGGCAGGGTGAATTCACATCAGCTCGTCCTTGGGCCTTCCACAGGCTGGCTCCAGTCACCCACTGCCATGGTCACAGAGGGCCTTCCCTTCTCTCCTGCAGTCCTTAGAAACTCTCTTACCCTAGGGCCTAGACAGCACCATCCTGAATTTGTCTTGGGGTTCGTCCAGTGGGGAAGTCAGCCTTCTCCTGGGGCCATGTGGAGAGAGTGTGGCTCTGACAGGGGGAGGCTTTGATGACTCCCAGTGTTCAGGGAACCCCTCCTGCAGGCACATCATCTTGCAGGCCATACAGAGGGCTTGACCTTGCCTGGGTCACCAACTCTCTGGCATTGGCTTCCCCATCTCTAAGATCTGGGACTTGGATCAGACACCTCTAAGTTCTGTTCCCTGGGTGTTCATGGGATCTCTTGGGACTCTTGCTTGTACCCTATTAGGGATTCTTAGCTGAGAACTCAGAGATGGTTGTGAATGCAAGCCCCTGGAAGCCTGGAAAGGCACCTTTGCCACCGTGTCCCGGAGCCGTCTTGATTCAGGTTCCTCACGGTCACCTTTATCCCCAAGCCCCATAACCTCTGAGCCCTTGGTAGCAGCTTTCATGGGGCTCACTTACCTACCTTGTGTCATCGGCACCTCAAAAATGAAGTGCAGACGAGGGTAGTAAACCTGAGGGGTGGAATGTCTTTCAGACCAGGGGACAAGACCTCTAATCACATCCATGATAGATCTGGAACATCACCCCACCATGCTTGAAGGGCAGGCAGGGGCTTCACATTGAGCCAGCAGGACACGTGCACAAAGTCCTGCACTCAGAAAGACTCTGGCTCGGCTTAAAGTCCTGCTGTCACTGTCTTGAAATCCTTAATACTTTCTGAACAAAGAGCTGCACATTTGCATTTTCTCCTGGGTCCCATAAATTCTGTAGCTGGTCGTGATACCCTGATTTGCTGGCTGGGCTGTGTCCACCTAGAGGATGGGAGGTGCCTCCCTGTTTCTTTCCCTTTGTGGGGAAGATAGAAGCTGTGAGTGTTGGGCCATCATCAATTGCCTCTTATCCTCAGATAGCGAGGGGAGTCACCTTTCCTTGTAGCCCCTGCACCTTGGCACTGCCCTTTCTGATTCTTATCCTGCATCATTGTGCTCTGATCAAATTCACTTCATAGAATGGAGGGCACTGGGCAGTCACCAGGAACCGAGTTCTTGTCTTGGCCAGAATCCCCAGCTGTGAATCTAGAAGGAGAAAGAAGAAAGCTAATGGAATTACAGACAGGAACCTGGGGTGGTGGGCAGGTGGGAGAGGATTTGGAAACCATCTCTTTCATTCGTTGCCTGTTTACCAAACCCCGGAGCACTGGCTGGGGAGGAAGTGATGACTTGAGACATGTCTGAGAGTCTCAACCAACACCC
Task1_train_28018
A variant was discovered on Chromosome 20, affecting EDN3 (endothelin 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Waardenburg syndrome type 4B
TCCATCCACCTTGGCCTCTCAAAGAGCTGGAATTACAGATGTGAAGCACTGCCCCTCCCCCAACCCCATCTGTTATGAAAGGAGGGTCCTTTGACCACAAGTGCCCTGAGAAGTCAGGAGGACTTCCCAGTCTCAGACATTTTTATCTGAGCTGGAGATGGGGACAGCCTCCCACACACAGGACTTGGAAGGCTATGAAGGAAGTAGGGGGCTCTCTTGGGAGGTCATTTCCCTTGGTAGGGACGGTTGTGTGAATGAACTTGGCCTTTAGGGAGAGGAGCCCGACTCTCACCTGAAGCCACCCAACCTGTGCAGATGGCTGAGGAAGCCCTGGACACCACAGGACCGCTAACCCAGGATCTTTGTTGACTTTGCTCCCAGGCCACTGCCCCACACGCAGGCTCTGAACTCCTGGGAGAGGTAGGGAGCCAGCCCGAGGCGTGAGTCAAGAGTGTAAAGTACACCGAGTTCCTTGGCAAGCAGGCTCTTCAAGGGGAAGGTGTCACTCGGGGAACAATGAGAAATGTGTCTTTCCCTCAGCCCCTGATAGAAAAGATAACACCCCTTGAGCACAGCCTTTTCTCATCTGTTCTTGCTCTTGGATGGGGGGCTGCTACTCCGGAGCGGCGAACTGGCGGGCGGGGGTGCGCCTGTGAGTGTGAGCGCGCGTGTGCGTGTGTGCGCGCGCTCTCGTGGCCTTCCGGCAGCTGGCAGCTGTCCCGGCCCCCACCCCACCCTACCCCACCCCACCCAGCCGCGCCACGCCACGCCGCCCCCGCCCCTCGCTGTCCTGGGTGCGCCTCGGGCCGCTGCGCTCCTGGCCAGCTCCCCCCAGCGCCTGGGAGGCGACCCCCAGTGCGCCCGGGTTCAAAGGCCCGGCGAGGCAGTTCCAGCCCCTCTGGGGGGCGGGGAGGCGACGGGGGTGGTGCAGAAGCCAGAAAAGCCCGAGCCACAGCCGGCCAGCTCCGCGCAGGGATGGGCAGCGCGCTCTGAAAGTTTATGACCGCCGCAGCCAACTCCTGGCCGGAGCTGGAGACGCAGCGAGCGATCGGCCGGCCTCGAACCCCCACAGCTGGAGGGCGAGGCCAGCTGTACCCGGCCCCAGTGCCCTTTCGCGGCCACAAGCGGCCGTCCTCCTGGTCCGGTGCTCCGGCGCCTGATCTAGGTTCATGGAGCCGGGGCTGTGGCTCCTTTTCGGGCTCACAGTGACCTCCGCCGCAGGTAAGCGCACGGGGCGGCGCGCCTCTCCTGGCGCGAGCGCACACAAAAGGACCCAGGGCGGGGGACCCGAGGCGCGGAGAAGATGTGCGTCGCGGGGAGCAAACTCTTGCCTGGGCTCTGCACTCGTGAAGACGCCTGGGGGAGGGCTGGGGAGCAGAAGCGGCGCGCAACGACTACCCGCACGGGCTCCGGGAGTTGCAGCCCGCGCACTGGCTGGAGACCTGCTGCCTGGGCCGACTTGGTCAATTTTTCATGAAACTGGGGACTTTTCAGAAAGTTTGCGAACTATTCAGAGGCTGTGCCAAACCCTGGCAAAGTTTGCAGAAAGTATGCAAAATGCATGCAAGTTTTCAACGGGTGCAGATAGCTTGCAAGCTTTTCACAGAGTGTGCAGATAGCTTGGAAACTTTTCAGAAACTGCGCAGAGCTTTGGAAACTTTGCAGACATTTTGCTTGCTCCACCCCCCTCCTCAGGTGTTTGGGGGTGGCGGGTGTTGAGGGGTCTGCACACTCAGCTTAGGAGCCCCTCAATCTGCCTTCTGCAGGATTCGTGCCTTGCTCCCAGTCTGGGGATGCTGGCAGGCGCGGCGTGTCCCAGGCCCCCACTGCAGCCAGATCTGAGGGGGACTGTGAAGAGACTGTGGCTGGCCCTGGCGAGGAGACTGTGGCTGGCCCTGGCGAGGGGACTGTGGCCCCGACAGCACTGCAGGGTCCAAGCCCTGGAAGCCCTGGGCAGGAGCAGGCGGCCGAGGGGGCCCCTGAGCACCACCGATCCAGGCGCTGCACGTGCTTCACCTACAAGGACAAGGAGTGTGTCTACTATTGCCACCTGGACATCATTTGGATCAACACTCCCGAGTAAGTCAGCCTTTTGTGGTGAGGAACGTGGCTCCCGGACCAGGCCCACATCTGCTCATTCCCAGGAGGACCTCACTCCACCCCAGCCCCGCTCAGTTAGCCCAGAGCCTGCCCTGGCACAGCCTTTAGCTCTTGCTGGGGCCTCTTGCCAGCCCAGGTCTCTTCTGCAGGTCAGGGGTGTGACCCACATCCCCCCTGAGGGCCTGGCCCAAGAGAAACTCAATCCTGAGTTTGATCCTGTGGAAGGAGGAGCCCTCCCTCTGAATGAAGTGAACTGACCAGGGGGATTAGATACCTGAGATGTCTCTCTGAGCCTCTTTTCTGAGATAGAGAAAGCCCCGAAAGTTTATCTCATTCCCCAGGGGCCAAGGGGGCTCATACTCACTGTTGACCCCACCAGGATCCAAGGGGTTTAAAATTCCTTGAAAGCATCCTGGTCTCCAGGGAGTCTAAGGGTGGGTTTAGCTGAGCCTGACAGAACCTGCACAGTCCACTCGGGGTAGAATTCCCCTGGGATGGGCTCCCTTCCTTCCTGTGGGCCCCCCTGGATGCCAAGGCAGGGTGAATTCACATCAGCTCGTCCTTGGGCCTTCCACAGGCTGGCTCCAGTCACCCACTGCCATGGTCACAGAGGGCCTTCCCTTCTCTCCTGCAGTCCTTAGAAACTCTCTTACCCTAGGGCCTAGACAGCACCATCCTGAATTTGTCTTGGGGTTCGTCCAGTGGGGAAGTCAGCCTTCTCCTGGGGCCATGTGGAGAGAGTGTGGCTCTGACAGGGGGAGGCTTTGATGACTCCCAGTGTTCAGGGAACCCCTCCTGCAGGCACATCATCTTGCAGGCCATACAGAGGGCTTGACCTTGCCTGGGTCACCAACTCTCTGGCATTGGCTTCCCCATCTCTAAGATCTGGGACTTGGATCAGACACCTCTAAGTTCTGTTCCCTGGGTGTTCATGGGATCTCTTGGGACTCTTGCTTGTACCCTATTAGGGATTCTTAGCTGAGAACTCAGAGATGGTTGTGAATGCAAGCCCCTGGAAGCCTGGAAAGGCACCTTTGCCACCGTGTCCCGGAGCCGTCTTGATTCAGGTTCCTCACGGTCACCTTTATCCCCAAGCCCCATAACCTCTGAGCCCTTGGTAGCAGCTTTCATGGGGCTCACTTACCTACCTTGTGTCATCGGCACCTCAAAAATGAAGTGCAGACGAGGGTAGTAAACCTGAGGGGTGGAATGTCTTTCAGACCAGGGGACAAGACCTCTAATCACATCCATGATAGATCTGGAACATCACCCCACCATGCTTGAAGGGCAGGCAGGGGCTTCACATTGAGCCAGCAGGACACGTGCACAAAGTCCTGCACTCAGAAAGACTCTGGCTCGGCTTAAAGTCCTGCTGTCACTGTCTTGAAATCCTTAATACTTTCTGAACAAAGAGCTGCACATTTGCATTTTCTCCTGGGTCCCATAAATTCTGTAGCTGGTCGTGATACCCTGATTTGCTGGCTGGGCTGTGTCCACCTAGAGGATGGGAGGTGCCTCCCTGTTTCTTTCCCTTTGTGGGGAAGATAGAAGCTGTGAGTGTTGGGCCATCATCAATTGCCTCTTATCCTCAGATAGCGAGGGGAGTCACCTTTCCTTGTAGCCCCTGCACCTTGGCACTGCCCTTTCTGATTCTTATCCTGCATCATTGTGCTCTGATCAAATTCACTTCATAGAATGGAGGGCACTGGGCAGTCACCAGGAACCGAGTTCTTGTCTTGGCCAGAATCCCCAGCTGTGAATCTAGAAGGAGAAAGAAGAAAGCTAATGGAATTACAGACAGGAACCTGGGGTGGTGGGCAGGTGGGAGAGGATTTGGAAACCATCTCTTTCATTCGTTGCCTGTTTACCAAACCCCGGAGCACTGGCTGGGGAGGAAGTGATGACTTGAGACATGTCTGAGAGTCTCAACCAACACCCTGTGATCTGTTTAAAATTCTGTCTCATGCATCCTGCGATCTGTTTGAAGTCCTGTCTC
TCCATCCACCTTGGCCTCTCAAAGAGCTGGAATTACAGATGTGAAGCACTGCCCCTCCCCCAACCCCATCTGTTATGAAAGGAGGGTCCTTTGACCACAAGTGCCCTGAGAAGTCAGGAGGACTTCCCAGTCTCAGACATTTTTATCTGAGCTGGAGATGGGGACAGCCTCCCACACACAGGACTTGGAAGGCTATGAAGGAAGTAGGGGGCTCTCTTGGGAGGTCATTTCCCTTGGTAGGGACGGTTGTGTGAATGAACTTGGCCTTTAGGGAGAGGAGCCCGACTCTCACCTGAAGCCACCCAACCTGTGCAGATGGCTGAGGAAGCCCTGGACACCACAGGACCGCTAACCCAGGATCTTTGTTGACTTTGCTCCCAGGCCACTGCCCCACACGCAGGCTCTGAACTCCTGGGAGAGGTAGGGAGCCAGCCCGAGGCGTGAGTCAAGAGTGTAAAGTACACCGAGTTCCTTGGCAAGCAGGCTCTTCAAGGGGAAGGTGTCACTCGGGGAACAATGAGAAATGTGTCTTTCCCTCAGCCCCTGATAGAAAAGATAACACCCCTTGAGCACAGCCTTTTCTCATCTGTTCTTGCTCTTGGATGGGGGGCTGCTACTCCGGAGCGGCGAACTGGCGGGCGGGGGTGCGCCTGTGAGTGTGAGCGCGCGTGTGCGTGTGTGCGCGCGCTCTCGTGGCCTTCCGGCAGCTGGCAGCTGTCCCGGCCCCCACCCCACCCTACCCCACCCCACCCAGCCGCGCCACGCCACGCCGCCCCCGCCCCTCGCTGTCCTGGGTGCGCCTCGGGCCGCTGCGCTCCTGGCCAGCTCCCCCCAGCGCCTGGGAGGCGACCCCCAGTGCGCCCGGGTTCAAAGGCCCGGCGAGGCAGTTCCAGCCCCTCTGGGGGGCGGGGAGGCGACGGGGGTGGTGCAGAAGCCAGAAAAGCCCGAGCCACAGCCGGCCAGCTCCGCGCAGGGATGGGCAGCGCGCTCTGAAAGTTTATGACCGCCGCAGCCAACTCCTGGCCGGAGCTGGAGACGCAGCGAGCGATCGGCCGGCCTCGAACCCCCACAGCTGGAGGGCGAGGCCAGCTGTACCCGGCCCCAGTGCCCTTTCGCGGCCACAAGCGGCCGTCCTCCTGGTCCGGTGCTCCGGCGCCTGATCTAGGTTCATGGAGCCGGGGCTGTGGCTCCTTTTCGGGCTCACAGTGACCTCCGCCGCAGGTAAGCGCACGGGGCGGCGCGCCTCTCCTGGCGCGAGCGCACACAAAAGGACCCAGGGCGGGGGACCCGAGGCGCGGAGAAGATGTGCGTCGCGGGGAGCAAACTCTTGCCTGGGCTCTGCACTCGTGAAGACGCCTGGGGGAGGGCTGGGGAGCAGAAGCGGCGCGCAACGACTACCCGCACGGGCTCCGGGAGTTGCAGCCCGCGCACTGGCTGGAGACCTGCTGCCTGGGCCGACTTGGTCAATTTTTCATGAAACTGGGGACTTTTCAGAAAGTTTGCGAACTATTCAGAGGCTGTGCCAAACCCTGGCAAAGTTTGCAGAAAGTATGCAAAATGCATGCAAGTTTTCAACGGGTGCAGATAGCTTGCAAGCTTTTCACAGAGTGTGCAGATAGCTTGGAAACTTTTCAGAAACTGCGCAGAGCTTTGGAAACTTTGCAGACATTTTGCTTGCTCCACCCCCCTCCTCAGGTGTTTGGGGGTGGCGGGTGTTGAGGGGTCTGCACACTCAGCTTAGGAGCCCCTCAATCTGCCTTCTGCAGGATTCGTGCCTTGCTCCCAGTCTGGGGATGCTGGCAGGCGCGGCGTGTCCCAGGCCCCCACTGCAGCCAGATCTGAGGGGGACTGTGAAGAGACTGTGGCTGGCCCTGGCGAGGAGACTGTGGCTGGCCCTGGCGAGGGGACTGTGGCCCCGACAGCACTGCAGGGTCCAAGCCCTGGAAGCCCTGGGCAGGAGCAGGCGGCCGAGGGGGCCCCTGAGCACCACCGATCCAGGCGCTGCACGTGCTTCACCTACAAGGACAAGGAGTGTGTCTACTATTGCCGCCTGGACATCATTTGGATCAACACTCCCGAGTAAGTCAGCCTTTTGTGGTGAGGAACGTGGCTCCCGGACCAGGCCCACATCTGCTCATTCCCAGGAGGACCTCACTCCACCCCAGCCCCGCTCAGTTAGCCCAGAGCCTGCCCTGGCACAGCCTTTAGCTCTTGCTGGGGCCTCTTGCCAGCCCAGGTCTCTTCTGCAGGTCAGGGGTGTGACCCACATCCCCCCTGAGGGCCTGGCCCAAGAGAAACTCAATCCTGAGTTTGATCCTGTGGAAGGAGGAGCCCTCCCTCTGAATGAAGTGAACTGACCAGGGGGATTAGATACCTGAGATGTCTCTCTGAGCCTCTTTTCTGAGATAGAGAAAGCCCCGAAAGTTTATCTCATTCCCCAGGGGCCAAGGGGGCTCATACTCACTGTTGACCCCACCAGGATCCAAGGGGTTTAAAATTCCTTGAAAGCATCCTGGTCTCCAGGGAGTCTAAGGGTGGGTTTAGCTGAGCCTGACAGAACCTGCACAGTCCACTCGGGGTAGAATTCCCCTGGGATGGGCTCCCTTCCTTCCTGTGGGCCCCCCTGGATGCCAAGGCAGGGTGAATTCACATCAGCTCGTCCTTGGGCCTTCCACAGGCTGGCTCCAGTCACCCACTGCCATGGTCACAGAGGGCCTTCCCTTCTCTCCTGCAGTCCTTAGAAACTCTCTTACCCTAGGGCCTAGACAGCACCATCCTGAATTTGTCTTGGGGTTCGTCCAGTGGGGAAGTCAGCCTTCTCCTGGGGCCATGTGGAGAGAGTGTGGCTCTGACAGGGGGAGGCTTTGATGACTCCCAGTGTTCAGGGAACCCCTCCTGCAGGCACATCATCTTGCAGGCCATACAGAGGGCTTGACCTTGCCTGGGTCACCAACTCTCTGGCATTGGCTTCCCCATCTCTAAGATCTGGGACTTGGATCAGACACCTCTAAGTTCTGTTCCCTGGGTGTTCATGGGATCTCTTGGGACTCTTGCTTGTACCCTATTAGGGATTCTTAGCTGAGAACTCAGAGATGGTTGTGAATGCAAGCCCCTGGAAGCCTGGAAAGGCACCTTTGCCACCGTGTCCCGGAGCCGTCTTGATTCAGGTTCCTCACGGTCACCTTTATCCCCAAGCCCCATAACCTCTGAGCCCTTGGTAGCAGCTTTCATGGGGCTCACTTACCTACCTTGTGTCATCGGCACCTCAAAAATGAAGTGCAGACGAGGGTAGTAAACCTGAGGGGTGGAATGTCTTTCAGACCAGGGGACAAGACCTCTAATCACATCCATGATAGATCTGGAACATCACCCCACCATGCTTGAAGGGCAGGCAGGGGCTTCACATTGAGCCAGCAGGACACGTGCACAAAGTCCTGCACTCAGAAAGACTCTGGCTCGGCTTAAAGTCCTGCTGTCACTGTCTTGAAATCCTTAATACTTTCTGAACAAAGAGCTGCACATTTGCATTTTCTCCTGGGTCCCATAAATTCTGTAGCTGGTCGTGATACCCTGATTTGCTGGCTGGGCTGTGTCCACCTAGAGGATGGGAGGTGCCTCCCTGTTTCTTTCCCTTTGTGGGGAAGATAGAAGCTGTGAGTGTTGGGCCATCATCAATTGCCTCTTATCCTCAGATAGCGAGGGGAGTCACCTTTCCTTGTAGCCCCTGCACCTTGGCACTGCCCTTTCTGATTCTTATCCTGCATCATTGTGCTCTGATCAAATTCACTTCATAGAATGGAGGGCACTGGGCAGTCACCAGGAACCGAGTTCTTGTCTTGGCCAGAATCCCCAGCTGTGAATCTAGAAGGAGAAAGAAGAAAGCTAATGGAATTACAGACAGGAACCTGGGGTGGTGGGCAGGTGGGAGAGGATTTGGAAACCATCTCTTTCATTCGTTGCCTGTTTACCAAACCCCGGAGCACTGGCTGGGGAGGAAGTGATGACTTGAGACATGTCTGAGAGTCTCAACCAACACCCTGTGATCTGTTTAAAATTCTGTCTCATGCATCCTGCGATCTGTTTGAAGTCCTGTCTC
Task1_train_28019
This variant lies on Chromosome 20 and affects the gene EDN3 (endothelin 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Waardenburg syndrome type 4B
GGTTCAGCTCAATACAGGGCTGGATCCTGCCCTCTGTCTCCGTTTCCTGAGCACAGATGGCTCATCAGCGGGGCCTGTCTCTGCCTGGAGGGATCCCACCACCTCTGTTTCTGAGGAACTTGGGTGGGAGGGAGTTAGTGGGGAGAACAAGAGTCAACGAACAGGGTGGGGTCAGTTTTAGGCTCTTGTGTTCAACCCAGCAGGGAGGCGGGGGCGGGGGACTCCCTCCAAGCCTTAGGTCACTATGGGGCTTCCTGGCCCAATTTGCCCTCACTGTCGCAAAAAGGCTTTATGGTGTGTGTTTCAAATGAAAAGAAATTCAATTTGATTTTATTTTGAAAATGCAGCGAGGGGCTGGGCATGGTGGCTCACACCTGTAATCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAATAATAACAATAATAATAATTAGCCGGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAATCGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAGAAAAAAAGAAAAGAAAAGAAAAAAGAAAATGCAGAGGGGATGTCAGGACTCCCTTTGAAGTGGATAATTGGTACTACTCAGTGGGGTTCATGGAAACCAAGGTGGTTCATCTCTGGGGACTAGCAAGAAAACCAATGTTTATTGGAAAAGTGGCTTTGGCCACATGTTTCTTCTAGCTATTAGTAATTTGTTCCTCAAATCAAGCTAGTAAGTTAAGGATCTGCTTTCAACTTCTTCCCGCTGAACTGCCTGGCAGGCACCCCCTTTTTCTCTGGCAAGTGATGATTTGGATGTGCACACTCACTAGAACCAGCTTCCACGGGTTTTGCTCTGAACCACACCATCACACTCCTCCTGCCAACGCCAACCATAAACGAAATTGGTCAATGGTTTCAAGCCTTCTTCATCACGCGGCTCTTCTGAGGCTGGTTCCACTTTCAGCTGCATGGCCAGGCCCTCACCCGCCTCTCAGAGGTCACGGAGTGTTCCTTCTGATGTTTGTCTCTTTGAGGAAGCAACTTTCAAAGGCCGGGATGCATCTCTAATGACTGTAATTGCATTTCCCATCTTCTCATTAGCACAAACTGCTGTGCACATGGAAGAAATTCAGTCAGAAACCTCAGGTCTGGCCTCAGGCTGCGGGGTAGGCAGGTGATCTGATCAGGGCGAAGACCCAGACCAGCACGTAGGTTGCCCCACATGCCCTTGGCACAGGAAGAAAAGCCTCTGGAACAGGTGCTATGGTTGTCTTTAATTCTTTCTCGGCTTTCCATGGAATGAGGAGGAGGCCCAGATGGTACTTCCAGAGCCGAGGAGCAGAACCCGGCCCGGAGGAGCTAGGCCGGCCGTGGTTTGGTCTTGAAGAGAATGAAAGCCCACCCATGTTCACAGATCGCAGAGCCCCAGGGCGTTCAGGCCACACCTGCAGCTGGTGCCTTGGGTGAGGCTAAGGGGCTCACAAGTGCAGGCACACATGCCCAGACGCCTGCTGGGCTCCAAGAGTGCTGGCTGCTGCCCAGCTACCCAGACCCTCCATGTCCTTCCATGCCCTCAGCCCCAACTCTCTTCCTGGGGGTTGTGGAGGGCAGGGGGTGCACAGTTCACTCCAGAACCTTCCTAAGACCCAGAGCTGTAGTGGGGAGGGTTGTGAACACCAGTTTCTGAGACCTTTTCAGCCAGGCGGTGGTTCTCGCTCCACACCCTTGGGGGCCCCTGAGCAGGGAGGCCTGGGTGTGCTCACCTAACATTACCCTGTGCTTTGCAGACAGACGGTGCCCTATGGACTGTCCAACTACAGAGGAAGCTTCCGGGGCAAGAGGTCTGCGGGGCCACTTCCAGGGAATCTGCAGCTCTCACATCGGCCACACTTGCGCTGCGCTTGTGTGGGGAGATATGACAAGGCCTGCCTGCACTTTTGCACCCAAACTCTGGACGTCAGCAGGTATGACACCTCCTCCAGTTTCACTCATTTGCAGATATGCATCAACCCTCGGCAAGGCCAGGCCAGGGGCTTCTCAAAGGAGGGTGTAGGATAGTTCAGTCACATCCTGACCTACTGTCGTCCTGTGGGCCAGAGAAAGGAGGTGCTGAGCCCAGAAAAGACCCAGGTCCTCAGCATCAGGAGGGCAGGAGATGCAGCGTCCCCACCCCCTTGCTGCCTTTTGGAACAGAAGCTTCACAGTGGCCGTGGCTACATCTGGTTTCCAGACATATGTTTTTCTGGCCTGCACAGCACTTTGTGAAAATCTGAATAAGTTGCCAACACTTAAAAGATTGAAGAATTAACCCCTGCCAAATGCGTATTTTTAGCCTTCTCGAAAATAGCCCATGATAAGAGTGCAAAAGGCTTATTGGGAGGGGGGGGAACCCAGCACGTAGGACCATCTGGTCTCAGAGCCCCCCTTCTCTTTGGCCACCCTCAGCTGGAACTGAGTGGGGGCATCTCACGTTTGAGTAGGATGTGCAATATCCATTTACCTGTTACCAATTTATCTTACTTTGTAGCCCCTGGAGGCCCCCAAGTTTGAGACCCTGTGGTCTGTCCTGGCTGCCTTAGGGAAGCTTGCAAATCACGTTGAATGGAACCAACAGGCAGACTCCATGTTTGACCCAGGGGCTTTGAGCTGGTATTCACATAACAGGTATTCCTGTTAATGCTCCTTACTCCATCTTTTTCTTAACTTCGGGCCAAGATTCATGAACCCAGTGAGGCAGATTGGCCCTTTCAAAACCCTTCCTGGAGCAGGCGTAGGTGAGCTGCCCTGATGCACACAAAAGACACATAGGCAGGGGTGAGCTCCCAACACCCCAACAAGGCAGACGGTAGCGCTCAGGACCCCAGGATCTGCCGTCTGTGAAACCCAGTGTGAACTGCATGGTTTTTCCCCCCTTCTGGGCTTTTAAACATCCGATGAATAAGTGAGTGGTGAGTATATTCTGTACTTTGGTAGAAATCCACCCACCGAGTGCTCAGCCTTCAGAAACTGTGCCTGAGACGCAGTCCTTGGGGAACGCACTAATGTGCTCATTGGTGGGGAAGAGGAAGTCATAATTTGACACCGAAAAACCAGCCACAGGGAAAGGCAGGTTGATTGATTAAAACCAGCTCTCTCCCCACAGTAATTCAAGGACGGCAGAAAAAACAGACAAAGAAGAGGAAGGGAAGGTGAGAGGTGCCAACAGAGGCCTGTGTCAAAGGAGGTGAAGATGTGACGTGTCATTCCTTCGGGGGTGGGTGGAGGGTGTTTTGAGGGGATGGCATCTGGTCTGGTCCAGTGGGAACCCCAGATCTCATGGGATGCTGCACCCACAAGCAATGGTGCCTTTGGTGGACCGTTTCTGGGGGCAGAGCGGGCTGAAGCTGTGGACAGCTGCTGTCACTTGTCGGTCCCTGGCCACCCTGCTCTGTGTCCTGGGAGCCAGCCCTTGCATCCCTTGTAGCTCTGGGCAGTGATGTCCTGCCTGGATTTCACCTGGCCTGGACAAAGCTAGTCAACCACCGCTCTCAGAGGCCCTGTAGGCTGCTCTGCCCAGACCCACACTTCGCCTCTGCTTCCTTAGCAACATGTGGTCTTTCTCGTCAAAAAAATCATTTATTCTTTTCAGCAGCTGATTCTGGGCAGAGGTGAATTACAGCAGCTTGACAGCAGGGTCCCTTGGTTCTCCAGTTCATTGTATTATTTTTTTTAACCCACTTGTCTTTTTTGTATGAGAGATCCTGAGGGTTTCCTGCAGTCAAACTGGGTTTATTTGTCATTCTATCAATCAGAAGTCATTATTAATGACTCCGCAGCTCATCTGCAATGGGATGGTAATTTATGTTCATAATAATAGCCTGGAGGTGGCTTGGGTTTCTACAGAGACTGATCGAGGGAAGATGAAACCATGCTCAGTATACAGGAGCTTTCCAAATTGGTGGCAGA
GGTTCAGCTCAATACAGGGCTGGATCCTGCCCTCTGTCTCCGTTTCCTGAGCACAGATGGCTCATCAGCGGGGCCTGTCTCTGCCTGGAGGGATCCCACCACCTCTGTTTCTGAGGAACTTGGGTGGGAGGGAGTTAGTGGGGAGAACAAGAGTCAACGAACAGGGTGGGGTCAGTTTTAGGCTCTTGTGTTCAACCCAGCAGGGAGGCGGGGGCGGGGGACTCCCTCCAAGCCTTAGGTCACTATGGGGCTTCCTGGCCCAATTTGCCCTCACTGTCGCAAAAAGGCTTTATGGTGTGTGTTTCAAATGAAAAGAAATTCAATTTGATTTTATTTTGAAAATGCAGCGAGGGGCTGGGCATGGTGGCTCACACCTGTAATCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAATAATAACAATAATAATAATTAGCCGGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAATCGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAGAAAAAAAGAAAAGAAAAGAAAAAAGAAAATGCAGAGGGGATGTCAGGACTCCCTTTGAAGTGGATAATTGGTACTACTCAGTGGGGTTCATGGAAACCAAGGTGGTTCATCTCTGGGGACTAGCAAGAAAACCAATGTTTATTGGAAAAGTGGCTTTGGCCACATGTTTCTTCTAGCTATTAGTAATTTGTTCCTCAAATCAAGCTAGTAAGTTAAGGATCTGCTTTCAACTTCTTCCCGCTGAACTGCCTGGCAGGCACCCCCTTTTTCTCTGGCAAGTGATGATTTGGATGTGCACACTCACTAGAACCAGCTTCCACGGGTTTTGCTCTGAACCACACCATCACACTCCTCCTGCCAACGCCAACCATAAACGAAATTGGTCAATGGTTTCAAGCCTTCTTCATCACGCGGCTCTTCTGAGGCTGGTTCCACTTTCAGCTGCATGGCCAGGCCCTCACCCGCCTCTCAGAGGTCACGGAGTGTTCCTTCTGATGTTTGTCTCTTTGAGGAAGCAACTTTCAAAGGCCGGGATGCATCTCTAATGACTGTAATTGCATTTCCCATCTTCTCATTAGCACAAACTGCTGTGCACATGGAAGAAATTCAGTCAGAAACCTCAGGTCTGGCCTCAGGCTGCGGGGTAGGCAGGTGATCTGATCAGGGCGAAGACCCAGACCAGCACGTAGGTTGCCCCACATGCCCTTGGCACAGGAAGAAAAGCCTCTGGAACAGGTGCTATGGTTGTCTTTAATTCTTTCTCGGCTTTCCATGGAATGAGGAGGAGGCCCAGATGGTACTTCCAGAGCCGAGGAGCAGAACCCGGCCCGGAGGAGCTAGGCCGGCCGTGGTTTGGTCTTGAAGAGAATGAAAGCCCACCCATGTTCACAGATCGCAGAGCCCCAGGGCGTTCAGGCCACACCTGCAGCTGGTGCCTTGGGTGAGGCTAAGGGGCTCACAAGTGCAGGCACACATGCCCAGACGCCTGCTGGGCTCCAAGAGTGCTGGCTGCTGCCCAGCTACCCAGACCCTCCATGTCCTTCCATGCCCTCAGCCCCAACTCTCTTCCTGGGGGTTGTGGAGGGCAGGGGGTGCACAGTTCACTCCAGAACCTTCCTAAGACCCAGAGCTGTAGTGGGGAGGGTTGTGAACACCAGTTTCTGAGACCTTTTCAGCCAGGCGGTGGTTCTCGCTCCACACCCTTGGGGGCCCCTGAGCAGGGAGGCCTGGGTGTGCTCACCTAACATTACCCTGTGCTTTGCAGACAGACGGTGCCCTATGGACTGTCCAACTACAGAGGAAGCTTCCGGGGCAAGAGGTCTGCGGGGCCACTTCCAGGGAATCTGCAGCTCTCACATCGGCCACACTTGCGCTTCGCTTGTGTGGGGAGATATGACAAGGCCTGCCTGCACTTTTGCACCCAAACTCTGGACGTCAGCAGGTATGACACCTCCTCCAGTTTCACTCATTTGCAGATATGCATCAACCCTCGGCAAGGCCAGGCCAGGGGCTTCTCAAAGGAGGGTGTAGGATAGTTCAGTCACATCCTGACCTACTGTCGTCCTGTGGGCCAGAGAAAGGAGGTGCTGAGCCCAGAAAAGACCCAGGTCCTCAGCATCAGGAGGGCAGGAGATGCAGCGTCCCCACCCCCTTGCTGCCTTTTGGAACAGAAGCTTCACAGTGGCCGTGGCTACATCTGGTTTCCAGACATATGTTTTTCTGGCCTGCACAGCACTTTGTGAAAATCTGAATAAGTTGCCAACACTTAAAAGATTGAAGAATTAACCCCTGCCAAATGCGTATTTTTAGCCTTCTCGAAAATAGCCCATGATAAGAGTGCAAAAGGCTTATTGGGAGGGGGGGGAACCCAGCACGTAGGACCATCTGGTCTCAGAGCCCCCCTTCTCTTTGGCCACCCTCAGCTGGAACTGAGTGGGGGCATCTCACGTTTGAGTAGGATGTGCAATATCCATTTACCTGTTACCAATTTATCTTACTTTGTAGCCCCTGGAGGCCCCCAAGTTTGAGACCCTGTGGTCTGTCCTGGCTGCCTTAGGGAAGCTTGCAAATCACGTTGAATGGAACCAACAGGCAGACTCCATGTTTGACCCAGGGGCTTTGAGCTGGTATTCACATAACAGGTATTCCTGTTAATGCTCCTTACTCCATCTTTTTCTTAACTTCGGGCCAAGATTCATGAACCCAGTGAGGCAGATTGGCCCTTTCAAAACCCTTCCTGGAGCAGGCGTAGGTGAGCTGCCCTGATGCACACAAAAGACACATAGGCAGGGGTGAGCTCCCAACACCCCAACAAGGCAGACGGTAGCGCTCAGGACCCCAGGATCTGCCGTCTGTGAAACCCAGTGTGAACTGCATGGTTTTTCCCCCCTTCTGGGCTTTTAAACATCCGATGAATAAGTGAGTGGTGAGTATATTCTGTACTTTGGTAGAAATCCACCCACCGAGTGCTCAGCCTTCAGAAACTGTGCCTGAGACGCAGTCCTTGGGGAACGCACTAATGTGCTCATTGGTGGGGAAGAGGAAGTCATAATTTGACACCGAAAAACCAGCCACAGGGAAAGGCAGGTTGATTGATTAAAACCAGCTCTCTCCCCACAGTAATTCAAGGACGGCAGAAAAAACAGACAAAGAAGAGGAAGGGAAGGTGAGAGGTGCCAACAGAGGCCTGTGTCAAAGGAGGTGAAGATGTGACGTGTCATTCCTTCGGGGGTGGGTGGAGGGTGTTTTGAGGGGATGGCATCTGGTCTGGTCCAGTGGGAACCCCAGATCTCATGGGATGCTGCACCCACAAGCAATGGTGCCTTTGGTGGACCGTTTCTGGGGGCAGAGCGGGCTGAAGCTGTGGACAGCTGCTGTCACTTGTCGGTCCCTGGCCACCCTGCTCTGTGTCCTGGGAGCCAGCCCTTGCATCCCTTGTAGCTCTGGGCAGTGATGTCCTGCCTGGATTTCACCTGGCCTGGACAAAGCTAGTCAACCACCGCTCTCAGAGGCCCTGTAGGCTGCTCTGCCCAGACCCACACTTCGCCTCTGCTTCCTTAGCAACATGTGGTCTTTCTCGTCAAAAAAATCATTTATTCTTTTCAGCAGCTGATTCTGGGCAGAGGTGAATTACAGCAGCTTGACAGCAGGGTCCCTTGGTTCTCCAGTTCATTGTATTATTTTTTTTAACCCACTTGTCTTTTTTGTATGAGAGATCCTGAGGGTTTCCTGCAGTCAAACTGGGTTTATTTGTCATTCTATCAATCAGAAGTCATTATTAATGACTCCGCAGCTCATCTGCAATGGGATGGTAATTTATGTTCATAATAATAGCCTGGAGGTGGCTTGGGTTTCTACAGAGACTGATCGAGGGAAGATGAAACCATGCTCAGTATACAGGAGCTTTCCAAATTGGTGGCAGA
Task1_train_28020
The gene GATA5 (GATA binding protein 5) is located on Chromosome 20, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Congenital heart defects, multiple types, 5
AGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCATTGCAGCCTCAGCCTCTCAGCTCAAAAGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACCATGGGTGTGTGCCATCGTGACTGGCTAACTTTTAAATTTTTTGTAGAGACCTGGTCTCCCTATGTTGCCCAAGCTGGTTTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGCACAGGACCAATTTATTTATTTTTAGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCCTTGGTGTGATCATAGCTTACTATACCCTTGAACTCTTGGGCTCAAGTGATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGTGCTACCATGTCTGACTAATTTCTTTTTTTTTTTTTTTTTTAAATTTTTAGTGGAGATGGGTTCTTGCTATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTTAAGCAATCCTCCTGCTTCAGCCTTCCAAAATTCTGGGACTATAGGTATGAGCCACCGTGCCTGGCCCCTAACCCCTTCTTAACCTCAGTGGTTAACCCCTCAGTGAGGGCCACGTGGACGCCAGGCTGGAACAGCACACCTGGGAGCACAGGCAGAGTCACAGCGGCACACAAGCCAAGAGGGGGATGGACTCCTAGGAGCCTTCCCTCCGAGAGGCAGGCATGGGAGGAGGCTGGGCCTGCAGAGCCCCAGGCCCTAGGCCAGCTCCAAGGAAGAGAAGTGACGGCCGCCCCCGGCCTGTGGTCCTGCTTCCCACCACCTGCTCCACTGGGACCTCCCACGCTCAGGTCCTGGTCCCCCACAGCCCAGGGCCCCAGGATTTCCCCTCAGCCTGTAACTGAGGGATGTTCAGAGCTGCACCGGCATAGCACGCGAATCCAGGCATCTAGAACAGCCACCCGGCAAGGACAGCGGCAGGAGGGCTGGCCTCCACCCAGGGTGACGGCGGGAGCTGGCTGATCGACCCCGCACGGAGTCCACACCACCAGCGGAGGAGGACTTGGTGCCCAGGAACATACCCTTGCTCAGCCTTCTGACCCAGGTGCCACTGTGGCCTCCCCAATTTTAGATAACTTGCAAACGACATCAACACCCCAAATCCTTATTTGTACAATTACTCGAAAGTAAAGGTTTGCCTGGGGAAACGTATAGAACAAAGCAACTTTCAGCCTCTTCCAGCCTCTGGGGACTGTGCCCTGCCTGGGGCAAAAGTCCAGGCTCCGGAGTCCCCCACTCCCTGCTCAGCCACAAGCCAGGAAGAACCAAAAGTGAAAACAAGTTTAGCCCATGAGGCAGAGGACAGGCATAAACCTGGTGTCCCTGCGGTCCCTGAAATATGGGTAGAAAGTGCTCCCCGAGGGGACTACAGACCCAAAGACTCTCCAGTTTCAGATTTCAAGGCCCTTCAATCAAGTATCCAGCAGCCACCTTCCCTCAAGCCTCATCCCAGGTAGGGTCACCTTGAGGCCTCCGAGACAGGGCCAGGCCACAGCCAGCCACCACCGACTCGTAGGGCTGAGCTCCTGGCTCCTGGCAGCAGGCCTTCTTGGACCCAGCACTCAGCTGAGCCTGGCTGACACCGTTGCTCCAGAGCCTGGGCTCCTGGCCCCCAGAGCGCTCCAGGGCTGGGCGCTATGAGCTGGTGGCCCCTGGCATCCCCACTGGGATCCCCTGCCCTGCCCTGAGCGCTCTCAAAGAAGACCTGAGCCGGCCTGACCTGACCCACCGGGGCGGGCACCCAGGCTGTTTTTGGGACACTCCCTACCCCCTACCCCAGGGGCTCTGGTGTCACCTGGGTGGATTGCAAGAGGTCCCCTCGGGGGAGCACTGCGCCCAGGCGCCCCTCTGCCCAGCCCGAACTCACCAGGCGCTTCTGAGGCCGAACGAGCGGCCGGTTGACGCCATTCATCTTGTGGTAGAGGCCGCAGGCATTGCACAGGTAGTGGCCGGTGCCGTCTCGGCGCCACAGCGGTGTGGACAGGGCCCCGCAGTTGACACACTCACGACCCTCACCCGGGAACTCCTCCAAGAAGTCGGACACTGAGGGGACAGGCAGCTGGTGGGCCCGGGCCCTCCCCTCCCCAGGATCCTCCCCAGCTCATGGGCCGGCACCCTCCCCTCCCCAGGAGCCTGGCGGCTTTCGTCAGACGAATAAACTTAAGGCACAAATCTTGTGCCTTAGATGTATTTTATTTTAAAATTTATTTGCTTACTTCATCTTATTTTTAAATTTTTAATTCACATACGATAAAATTCGCTAGGGTTGGTTTTTCGAGGATGGGGTGTTAATAAACAGAACCTGAAGACAGACACCTGGGACTCCCGGCTCCGGGACCGGGGGCCAGCACTGGCCTCTGCCTGTTTGACCTGCTGGGAAAGCAGGGTGTCTACACTGGCGGGGGAGGTGGATGAAGTGGTGTCTACACTGGCAGGGGAGGGATGAAGGGGCTTTATCTGGCAGACACTCTTGGGCGCCCCTGGGCTCTCCTGGGAACGCTAACCCCGCTGTCCTCCTGTTCTGCAAAGCGGGTCCATGACAGGGGTGGGGGGTTGGGAGGGTGGAGGAGGTGCCTTCTGTCAGCTTGGCTGTGGTCGCAACCAGTGTCCTTCCTTTAGAAGGCCAGCCCCGCCTCACAGCCCCCTGGGGCCGGGCTTCGCACACTGTGCGGCTGGGGGTGGAGGTCTTCCTGGTCCCCTCCAGGCCCGGCCCGGCGCCGGCGCGAGGGAGGCCCGGGCGCCGAGTGGGGGTGGGGCAGGGATCAATCATCGCCCCGCCGGGGGTGGGCGCCAGCAGCCGGGCTGTCCAGGGAGGCGGGGGCCAGGGGTCCTGCGGATGCCGCTGCGCCCGCTTCCTGCGCCAAAGGGCCGGCGGGGTCCCAAAGGCAGCTCCGGAGCTGGGTGTCGAGGCCTCCAAGGTCCCGGAGGGACGGGATGGGCCCCTGCGGAGCTCAGAGGAGCCGCCTTCGCCAGAAAGTGACTACGCTGCAACCGGGAAGAGCCGCTCCCCTCACAGGCCGAGAATCCGATTCTCCAAACTGATACTCGGGAAGCGACTGAAACCAGGTCTCAAATTAAAATCAGTAAACGTCCTAGAACCGAGACGAATGTGGCCACTTAAATAAACCGATGTTTTGGGCTTTATAAAAATCGTTTCCAAAACTTTTCAAAAACAAAAACAAAAACGATTAAGACTTTTGAGGCTCCACATTGGCACAATCCGGAATGCTGTTTGGAAATAGATGTTCCTTCTCATTAACAGGTTAAAACAGAATTCTGGATGGGTGTTTCCCGTGCGGGGTGTTACCCAGGTTTACTCGTCTCGCCCCGGGGCTGCTGGTGTCGCTCCTGGCAGGGAGGCTCGGACCGTGGGGGAGGATGAGGGGAGCGTTTCGCAGGGTGCGGGTTTGCACCCGGATTCGGCCGCTCCTGGGCCCCGAGACTGTGGAGCCCCCGCACTCACCGAAGGTGGGCCTGCGGCCTGGGAGGCCGTGCAGGACGCTGCCATCGAAGGGCCCGGCAGTCCAGGACTGGGCCACGTCGGGGCTCACGTAGGCCGGGTAGGTGGCGGAGTACGAGGTCCCCACCGGCCGCCCAAGCGGGGCCGCGAACTGTTCTCGAGGCAACAGCGCGCCCTGGTAGGCACTGCCGTCTCGGCCCCCCGCGCTGCCGCCGCTGCCGGGCCCCGAGGGGCTGTGCGCGAAAGGGAAGGCGGTGGCCCCGGGCGGGTGCGCGGCTGGGGGGTGCGGACTGCCCGGGCCGAAGGCCGACGAATCCGCGGTGGCTGTCTGCGCCCAGCCGGGGCGCGCAGCGAGCTCGGGGGGCTGCGGGCTCGGCTCACACCCGGACAGGTAGGACAGCATCGAGGGGACGCGCGCCGGCGGCACAAACATCGGAGAGCCGGCGCCCGGAGCGTGCAGGAAGGAGCCCGAGTCGGCGTAGGCGGCCTGGCGGGGGCTCGCGGCCAGCGCCAGGCTCTGGTACATCCTCCCAGGCGTGGTCTTGACCTGCAGGGA
AGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCATTGCAGCCTCAGCCTCTCAGCTCAAAAGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACCATGGGTGTGTGCCATCGTGACTGGCTAACTTTTAAATTTTTTGTAGAGACCTGGTCTCCCTATGTTGCCCAAGCTGGTTTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGCACAGGACCAATTTATTTATTTTTAGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCCTTGGTGTGATCATAGCTTACTATACCCTTGAACTCTTGGGCTCAAGTGATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGTGCTACCATGTCTGACTAATTTCTTTTTTTTTTTTTTTTTTAAATTTTTAGTGGAGATGGGTTCTTGCTATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTTAAGCAATCCTCCTGCTTCAGCCTTCCAAAATTCTGGGACTATAGGTATGAGCCACCGTGCCTGGCCCCTAACCCCTTCTTAACCTCAGTGGTTAACCCCTCAGTGAGGGCCACGTGGACGCCAGGCTGGAACAGCACACCTGGGAGCACAGGCAGAGTCACAGCGGCACACAAGCCAAGAGGGGGATGGACTCCTAGGAGCCTTCCCTCCGAGAGGCAGGCATGGGAGGAGGCTGGGCCTGCAGAGCCCCAGGCCCTAGGCCAGCTCCAAGGAAGAGAAGTGACGGCCGCCCCCGGCCTGTGGTCCTGCTTCCCACCACCTGCTCCACTGGGACCTCCCACGCTCAGGTCCTGGTCCCCCACAGCCCAGGGCCCCAGGATTTCCCCTCAGCCTGTAACTGAGGGATGTTCAGAGCTGCACCGGCATAGCACGCGAATCCAGGCATCTAGAACAGCCACCCGGCAAGGACAGCGGCAGGAGGGCTGGCCTCCACCCAGGGTGACGGCGGGAGCTGGCTGATCGACCCCGCACGGAGTCCACACCACCAGCGGAGGAGGACTTGGTGCCCAGGAACATACCCTTGCTCAGCCTTCTGACCCAGGTGCCACTGTGGCCTCCCCAATTTTAGATAACTTGCAAACGACATCAACACCCCAAATCCTTATTTGTACAATTACTCGAAAGTAAAGGTTTGCCTGGGGAAACGTATAGAACAAAGCAACTTTCAGCCTCTTCCAGCCTCTGGGGACTGTGCCCTGCCTGGGGCAAAAGTCCAGGCTCCGGAGTCCCCCACTCCCTGCTCAGCCACAAGCCAGGAAGAACCAAAAGTGAAAACAAGTTTAGCCCATGAGGCAGAGGACAGGCATAAACCTGGTGTCCCTGCGGTCCCTGAAATATGGGTAGAAAGTGCTCCCCGAGGGGACTACAGACCCAAAGACTCTCCAGTTTCAGATTTCAAGGCCCTTCAATCAAGTATCCAGCAGCCACCTTCCCTCAAGCCTCATCCCAGGTAGGGTCACCTTGAGGCCTCCGAGACAGGGCCAGGCCACAGCCAGCCACCACCGACTCGTAGGGCTGAGCTCCTGGCTCCTGGCAGCAGGCCTTCTTGGACCCAGCACTCAGCTGAGCCTGGCTGACACCGTTGCTCCAGAGCCTGGGCTCCTGGCCCCCAGAGCGCTCCAGGGCTGGGCGCTATGAGCTGGTGGCCCCTGGCATCCCCACTGGGATCCCCTGCCCTGCCCTGAGCGCTCTCAAAGAAGACCTGAGCCGGCCTGACCTGACCCACCGGGGCGGGCACCCAGGCTGTTTTTGGGACACTCCCTACCCCCTACCCCAGGGGCTCTGGTGTCACCTGGGTGGATTGCAAGAGGTCCCCTCGGGGGAGCACTGCGCCCAGGCGCCCCTCTGCCCAGCCCGAACTCACCAGGCGCTTCTGAGGCCGAACGAGCGGCCGGTTGACGCCATTCATCTTGTGGTAGAGGCCGCAGGCATTGCACAGGTAGTGGCCGGTGCCGTCTCGGCGCCCCAGCGGTGTGGACAGGGCCCCGCAGTTGACACACTCACGACCCTCACCCGGGAACTCCTCCAAGAAGTCGGACACTGAGGGGACAGGCAGCTGGTGGGCCCGGGCCCTCCCCTCCCCAGGATCCTCCCCAGCTCATGGGCCGGCACCCTCCCCTCCCCAGGAGCCTGGCGGCTTTCGTCAGACGAATAAACTTAAGGCACAAATCTTGTGCCTTAGATGTATTTTATTTTAAAATTTATTTGCTTACTTCATCTTATTTTTAAATTTTTAATTCACATACGATAAAATTCGCTAGGGTTGGTTTTTCGAGGATGGGGTGTTAATAAACAGAACCTGAAGACAGACACCTGGGACTCCCGGCTCCGGGACCGGGGGCCAGCACTGGCCTCTGCCTGTTTGACCTGCTGGGAAAGCAGGGTGTCTACACTGGCGGGGGAGGTGGATGAAGTGGTGTCTACACTGGCAGGGGAGGGATGAAGGGGCTTTATCTGGCAGACACTCTTGGGCGCCCCTGGGCTCTCCTGGGAACGCTAACCCCGCTGTCCTCCTGTTCTGCAAAGCGGGTCCATGACAGGGGTGGGGGGTTGGGAGGGTGGAGGAGGTGCCTTCTGTCAGCTTGGCTGTGGTCGCAACCAGTGTCCTTCCTTTAGAAGGCCAGCCCCGCCTCACAGCCCCCTGGGGCCGGGCTTCGCACACTGTGCGGCTGGGGGTGGAGGTCTTCCTGGTCCCCTCCAGGCCCGGCCCGGCGCCGGCGCGAGGGAGGCCCGGGCGCCGAGTGGGGGTGGGGCAGGGATCAATCATCGCCCCGCCGGGGGTGGGCGCCAGCAGCCGGGCTGTCCAGGGAGGCGGGGGCCAGGGGTCCTGCGGATGCCGCTGCGCCCGCTTCCTGCGCCAAAGGGCCGGCGGGGTCCCAAAGGCAGCTCCGGAGCTGGGTGTCGAGGCCTCCAAGGTCCCGGAGGGACGGGATGGGCCCCTGCGGAGCTCAGAGGAGCCGCCTTCGCCAGAAAGTGACTACGCTGCAACCGGGAAGAGCCGCTCCCCTCACAGGCCGAGAATCCGATTCTCCAAACTGATACTCGGGAAGCGACTGAAACCAGGTCTCAAATTAAAATCAGTAAACGTCCTAGAACCGAGACGAATGTGGCCACTTAAATAAACCGATGTTTTGGGCTTTATAAAAATCGTTTCCAAAACTTTTCAAAAACAAAAACAAAAACGATTAAGACTTTTGAGGCTCCACATTGGCACAATCCGGAATGCTGTTTGGAAATAGATGTTCCTTCTCATTAACAGGTTAAAACAGAATTCTGGATGGGTGTTTCCCGTGCGGGGTGTTACCCAGGTTTACTCGTCTCGCCCCGGGGCTGCTGGTGTCGCTCCTGGCAGGGAGGCTCGGACCGTGGGGGAGGATGAGGGGAGCGTTTCGCAGGGTGCGGGTTTGCACCCGGATTCGGCCGCTCCTGGGCCCCGAGACTGTGGAGCCCCCGCACTCACCGAAGGTGGGCCTGCGGCCTGGGAGGCCGTGCAGGACGCTGCCATCGAAGGGCCCGGCAGTCCAGGACTGGGCCACGTCGGGGCTCACGTAGGCCGGGTAGGTGGCGGAGTACGAGGTCCCCACCGGCCGCCCAAGCGGGGCCGCGAACTGTTCTCGAGGCAACAGCGCGCCCTGGTAGGCACTGCCGTCTCGGCCCCCCGCGCTGCCGCCGCTGCCGGGCCCCGAGGGGCTGTGCGCGAAAGGGAAGGCGGTGGCCCCGGGCGGGTGCGCGGCTGGGGGGTGCGGACTGCCCGGGCCGAAGGCCGACGAATCCGCGGTGGCTGTCTGCGCCCAGCCGGGGCGCGCAGCGAGCTCGGGGGGCTGCGGGCTCGGCTCACACCCGGACAGGTAGGACAGCATCGAGGGGACGCGCGCCGGCGGCACAAACATCGGAGAGCCGGCGCCCGGAGCGTGCAGGAAGGAGCCCGAGTCGGCGTAGGCGGCCTGGCGGGGGCTCGCGGCCAGCGCCAGGCTCTGGTACATCCTCCCAGGCGTGGTCTTGACCTGCAGGGA
Task1_train_28021
Gene GATA5 (GATA binding protein 5) on Chromosome 20 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Congenital heart defects, multiple types, 5
TCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCATTGCAGCCTCAGCCTCTCAGCTCAAAAGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACCATGGGTGTGTGCCATCGTGACTGGCTAACTTTTAAATTTTTTGTAGAGACCTGGTCTCCCTATGTTGCCCAAGCTGGTTTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGCACAGGACCAATTTATTTATTTTTAGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCCTTGGTGTGATCATAGCTTACTATACCCTTGAACTCTTGGGCTCAAGTGATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGTGCTACCATGTCTGACTAATTTCTTTTTTTTTTTTTTTTTTAAATTTTTAGTGGAGATGGGTTCTTGCTATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTTAAGCAATCCTCCTGCTTCAGCCTTCCAAAATTCTGGGACTATAGGTATGAGCCACCGTGCCTGGCCCCTAACCCCTTCTTAACCTCAGTGGTTAACCCCTCAGTGAGGGCCACGTGGACGCCAGGCTGGAACAGCACACCTGGGAGCACAGGCAGAGTCACAGCGGCACACAAGCCAAGAGGGGGATGGACTCCTAGGAGCCTTCCCTCCGAGAGGCAGGCATGGGAGGAGGCTGGGCCTGCAGAGCCCCAGGCCCTAGGCCAGCTCCAAGGAAGAGAAGTGACGGCCGCCCCCGGCCTGTGGTCCTGCTTCCCACCACCTGCTCCACTGGGACCTCCCACGCTCAGGTCCTGGTCCCCCACAGCCCAGGGCCCCAGGATTTCCCCTCAGCCTGTAACTGAGGGATGTTCAGAGCTGCACCGGCATAGCACGCGAATCCAGGCATCTAGAACAGCCACCCGGCAAGGACAGCGGCAGGAGGGCTGGCCTCCACCCAGGGTGACGGCGGGAGCTGGCTGATCGACCCCGCACGGAGTCCACACCACCAGCGGAGGAGGACTTGGTGCCCAGGAACATACCCTTGCTCAGCCTTCTGACCCAGGTGCCACTGTGGCCTCCCCAATTTTAGATAACTTGCAAACGACATCAACACCCCAAATCCTTATTTGTACAATTACTCGAAAGTAAAGGTTTGCCTGGGGAAACGTATAGAACAAAGCAACTTTCAGCCTCTTCCAGCCTCTGGGGACTGTGCCCTGCCTGGGGCAAAAGTCCAGGCTCCGGAGTCCCCCACTCCCTGCTCAGCCACAAGCCAGGAAGAACCAAAAGTGAAAACAAGTTTAGCCCATGAGGCAGAGGACAGGCATAAACCTGGTGTCCCTGCGGTCCCTGAAATATGGGTAGAAAGTGCTCCCCGAGGGGACTACAGACCCAAAGACTCTCCAGTTTCAGATTTCAAGGCCCTTCAATCAAGTATCCAGCAGCCACCTTCCCTCAAGCCTCATCCCAGGTAGGGTCACCTTGAGGCCTCCGAGACAGGGCCAGGCCACAGCCAGCCACCACCGACTCGTAGGGCTGAGCTCCTGGCTCCTGGCAGCAGGCCTTCTTGGACCCAGCACTCAGCTGAGCCTGGCTGACACCGTTGCTCCAGAGCCTGGGCTCCTGGCCCCCAGAGCGCTCCAGGGCTGGGCGCTATGAGCTGGTGGCCCCTGGCATCCCCACTGGGATCCCCTGCCCTGCCCTGAGCGCTCTCAAAGAAGACCTGAGCCGGCCTGACCTGACCCACCGGGGCGGGCACCCAGGCTGTTTTTGGGACACTCCCTACCCCCTACCCCAGGGGCTCTGGTGTCACCTGGGTGGATTGCAAGAGGTCCCCTCGGGGGAGCACTGCGCCCAGGCGCCCCTCTGCCCAGCCCGAACTCACCAGGCGCTTCTGAGGCCGAACGAGCGGCCGGTTGACGCCATTCATCTTGTGGTAGAGGCCGCAGGCATTGCACAGGTAGTGGCCGGTGCCGTCTCGGCGCCACAGCGGTGTGGACAGGGCCCCGCAGTTGACACACTCACGACCCTCACCCGGGAACTCCTCCAAGAAGTCGGACACTGAGGGGACAGGCAGCTGGTGGGCCCGGGCCCTCCCCTCCCCAGGATCCTCCCCAGCTCATGGGCCGGCACCCTCCCCTCCCCAGGAGCCTGGCGGCTTTCGTCAGACGAATAAACTTAAGGCACAAATCTTGTGCCTTAGATGTATTTTATTTTAAAATTTATTTGCTTACTTCATCTTATTTTTAAATTTTTAATTCACATACGATAAAATTCGCTAGGGTTGGTTTTTCGAGGATGGGGTGTTAATAAACAGAACCTGAAGACAGACACCTGGGACTCCCGGCTCCGGGACCGGGGGCCAGCACTGGCCTCTGCCTGTTTGACCTGCTGGGAAAGCAGGGTGTCTACACTGGCGGGGGAGGTGGATGAAGTGGTGTCTACACTGGCAGGGGAGGGATGAAGGGGCTTTATCTGGCAGACACTCTTGGGCGCCCCTGGGCTCTCCTGGGAACGCTAACCCCGCTGTCCTCCTGTTCTGCAAAGCGGGTCCATGACAGGGGTGGGGGGTTGGGAGGGTGGAGGAGGTGCCTTCTGTCAGCTTGGCTGTGGTCGCAACCAGTGTCCTTCCTTTAGAAGGCCAGCCCCGCCTCACAGCCCCCTGGGGCCGGGCTTCGCACACTGTGCGGCTGGGGGTGGAGGTCTTCCTGGTCCCCTCCAGGCCCGGCCCGGCGCCGGCGCGAGGGAGGCCCGGGCGCCGAGTGGGGGTGGGGCAGGGATCAATCATCGCCCCGCCGGGGGTGGGCGCCAGCAGCCGGGCTGTCCAGGGAGGCGGGGGCCAGGGGTCCTGCGGATGCCGCTGCGCCCGCTTCCTGCGCCAAAGGGCCGGCGGGGTCCCAAAGGCAGCTCCGGAGCTGGGTGTCGAGGCCTCCAAGGTCCCGGAGGGACGGGATGGGCCCCTGCGGAGCTCAGAGGAGCCGCCTTCGCCAGAAAGTGACTACGCTGCAACCGGGAAGAGCCGCTCCCCTCACAGGCCGAGAATCCGATTCTCCAAACTGATACTCGGGAAGCGACTGAAACCAGGTCTCAAATTAAAATCAGTAAACGTCCTAGAACCGAGACGAATGTGGCCACTTAAATAAACCGATGTTTTGGGCTTTATAAAAATCGTTTCCAAAACTTTTCAAAAACAAAAACAAAAACGATTAAGACTTTTGAGGCTCCACATTGGCACAATCCGGAATGCTGTTTGGAAATAGATGTTCCTTCTCATTAACAGGTTAAAACAGAATTCTGGATGGGTGTTTCCCGTGCGGGGTGTTACCCAGGTTTACTCGTCTCGCCCCGGGGCTGCTGGTGTCGCTCCTGGCAGGGAGGCTCGGACCGTGGGGGAGGATGAGGGGAGCGTTTCGCAGGGTGCGGGTTTGCACCCGGATTCGGCCGCTCCTGGGCCCCGAGACTGTGGAGCCCCCGCACTCACCGAAGGTGGGCCTGCGGCCTGGGAGGCCGTGCAGGACGCTGCCATCGAAGGGCCCGGCAGTCCAGGACTGGGCCACGTCGGGGCTCACGTAGGCCGGGTAGGTGGCGGAGTACGAGGTCCCCACCGGCCGCCCAAGCGGGGCCGCGAACTGTTCTCGAGGCAACAGCGCGCCCTGGTAGGCACTGCCGTCTCGGCCCCCCGCGCTGCCGCCGCTGCCGGGCCCCGAGGGGCTGTGCGCGAAAGGGAAGGCGGTGGCCCCGGGCGGGTGCGCGGCTGGGGGGTGCGGACTGCCCGGGCCGAAGGCCGACGAATCCGCGGTGGCTGTCTGCGCCCAGCCGGGGCGCGCAGCGAGCTCGGGGGGCTGCGGGCTCGGCTCACACCCGGACAGGTAGGACAGCATCGAGGGGACGCGCGCCGGCGGCACAAACATCGGAGAGCCGGCGCCCGGAGCGTGCAGGAAGGAGCCCGAGTCGGCGTAGGCGGCCTGGCGGGGGCTCGCGGCCAGCGCCAGGCTCTGGTACATCCTCCCAGGCGTGGTCTTGACCTGCAGGGAAGA
TCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCATTGCAGCCTCAGCCTCTCAGCTCAAAAGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACCATGGGTGTGTGCCATCGTGACTGGCTAACTTTTAAATTTTTTGTAGAGACCTGGTCTCCCTATGTTGCCCAAGCTGGTTTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGCACAGGACCAATTTATTTATTTTTAGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCCTTGGTGTGATCATAGCTTACTATACCCTTGAACTCTTGGGCTCAAGTGATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGTGCTACCATGTCTGACTAATTTCTTTTTTTTTTTTTTTTTTAAATTTTTAGTGGAGATGGGTTCTTGCTATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTTAAGCAATCCTCCTGCTTCAGCCTTCCAAAATTCTGGGACTATAGGTATGAGCCACCGTGCCTGGCCCCTAACCCCTTCTTAACCTCAGTGGTTAACCCCTCAGTGAGGGCCACGTGGACGCCAGGCTGGAACAGCACACCTGGGAGCACAGGCAGAGTCACAGCGGCACACAAGCCAAGAGGGGGATGGACTCCTAGGAGCCTTCCCTCCGAGAGGCAGGCATGGGAGGAGGCTGGGCCTGCAGAGCCCCAGGCCCTAGGCCAGCTCCAAGGAAGAGAAGTGACGGCCGCCCCCGGCCTGTGGTCCTGCTTCCCACCACCTGCTCCACTGGGACCTCCCACGCTCAGGTCCTGGTCCCCCACAGCCCAGGGCCCCAGGATTTCCCCTCAGCCTGTAACTGAGGGATGTTCAGAGCTGCACCGGCATAGCACGCGAATCCAGGCATCTAGAACAGCCACCCGGCAAGGACAGCGGCAGGAGGGCTGGCCTCCACCCAGGGTGACGGCGGGAGCTGGCTGATCGACCCCGCACGGAGTCCACACCACCAGCGGAGGAGGACTTGGTGCCCAGGAACATACCCTTGCTCAGCCTTCTGACCCAGGTGCCACTGTGGCCTCCCCAATTTTAGATAACTTGCAAACGACATCAACACCCCAAATCCTTATTTGTACAATTACTCGAAAGTAAAGGTTTGCCTGGGGAAACGTATAGAACAAAGCAACTTTCAGCCTCTTCCAGCCTCTGGGGACTGTGCCCTGCCTGGGGCAAAAGTCCAGGCTCCGGAGTCCCCCACTCCCTGCTCAGCCACAAGCCAGGAAGAACCAAAAGTGAAAACAAGTTTAGCCCATGAGGCAGAGGACAGGCATAAACCTGGTGTCCCTGCGGTCCCTGAAATATGGGTAGAAAGTGCTCCCCGAGGGGACTACAGACCCAAAGACTCTCCAGTTTCAGATTTCAAGGCCCTTCAATCAAGTATCCAGCAGCCACCTTCCCTCAAGCCTCATCCCAGGTAGGGTCACCTTGAGGCCTCCGAGACAGGGCCAGGCCACAGCCAGCCACCACCGACTCGTAGGGCTGAGCTCCTGGCTCCTGGCAGCAGGCCTTCTTGGACCCAGCACTCAGCTGAGCCTGGCTGACACCGTTGCTCCAGAGCCTGGGCTCCTGGCCCCCAGAGCGCTCCAGGGCTGGGCGCTATGAGCTGGTGGCCCCTGGCATCCCCACTGGGATCCCCTGCCCTGCCCTGAGCGCTCTCAAAGAAGACCTGAGCCGGCCTGACCTGACCCACCGGGGCGGGCACCCAGGCTGTTTTTGGGACACTCCCTACCCCCTACCCCAGGGGCTCTGGTGTCACCTGGGTGGATTGCAAGAGGTCCCCTCGGGGGAGCACTGCGCCCAGGCGCCCCTCTGCCCAGCCCGAACTCACCAGGCGCTTCTGAGGCCGAACGAGCGGCCGGTTGACGCCATTCATCTTGTGGTAGAGGCCGCAGGCATTGCACAGGTAGTGGCCGGTGCCGTCTCGGCGCCACACCGGTGTGGACAGGGCCCCGCAGTTGACACACTCACGACCCTCACCCGGGAACTCCTCCAAGAAGTCGGACACTGAGGGGACAGGCAGCTGGTGGGCCCGGGCCCTCCCCTCCCCAGGATCCTCCCCAGCTCATGGGCCGGCACCCTCCCCTCCCCAGGAGCCTGGCGGCTTTCGTCAGACGAATAAACTTAAGGCACAAATCTTGTGCCTTAGATGTATTTTATTTTAAAATTTATTTGCTTACTTCATCTTATTTTTAAATTTTTAATTCACATACGATAAAATTCGCTAGGGTTGGTTTTTCGAGGATGGGGTGTTAATAAACAGAACCTGAAGACAGACACCTGGGACTCCCGGCTCCGGGACCGGGGGCCAGCACTGGCCTCTGCCTGTTTGACCTGCTGGGAAAGCAGGGTGTCTACACTGGCGGGGGAGGTGGATGAAGTGGTGTCTACACTGGCAGGGGAGGGATGAAGGGGCTTTATCTGGCAGACACTCTTGGGCGCCCCTGGGCTCTCCTGGGAACGCTAACCCCGCTGTCCTCCTGTTCTGCAAAGCGGGTCCATGACAGGGGTGGGGGGTTGGGAGGGTGGAGGAGGTGCCTTCTGTCAGCTTGGCTGTGGTCGCAACCAGTGTCCTTCCTTTAGAAGGCCAGCCCCGCCTCACAGCCCCCTGGGGCCGGGCTTCGCACACTGTGCGGCTGGGGGTGGAGGTCTTCCTGGTCCCCTCCAGGCCCGGCCCGGCGCCGGCGCGAGGGAGGCCCGGGCGCCGAGTGGGGGTGGGGCAGGGATCAATCATCGCCCCGCCGGGGGTGGGCGCCAGCAGCCGGGCTGTCCAGGGAGGCGGGGGCCAGGGGTCCTGCGGATGCCGCTGCGCCCGCTTCCTGCGCCAAAGGGCCGGCGGGGTCCCAAAGGCAGCTCCGGAGCTGGGTGTCGAGGCCTCCAAGGTCCCGGAGGGACGGGATGGGCCCCTGCGGAGCTCAGAGGAGCCGCCTTCGCCAGAAAGTGACTACGCTGCAACCGGGAAGAGCCGCTCCCCTCACAGGCCGAGAATCCGATTCTCCAAACTGATACTCGGGAAGCGACTGAAACCAGGTCTCAAATTAAAATCAGTAAACGTCCTAGAACCGAGACGAATGTGGCCACTTAAATAAACCGATGTTTTGGGCTTTATAAAAATCGTTTCCAAAACTTTTCAAAAACAAAAACAAAAACGATTAAGACTTTTGAGGCTCCACATTGGCACAATCCGGAATGCTGTTTGGAAATAGATGTTCCTTCTCATTAACAGGTTAAAACAGAATTCTGGATGGGTGTTTCCCGTGCGGGGTGTTACCCAGGTTTACTCGTCTCGCCCCGGGGCTGCTGGTGTCGCTCCTGGCAGGGAGGCTCGGACCGTGGGGGAGGATGAGGGGAGCGTTTCGCAGGGTGCGGGTTTGCACCCGGATTCGGCCGCTCCTGGGCCCCGAGACTGTGGAGCCCCCGCACTCACCGAAGGTGGGCCTGCGGCCTGGGAGGCCGTGCAGGACGCTGCCATCGAAGGGCCCGGCAGTCCAGGACTGGGCCACGTCGGGGCTCACGTAGGCCGGGTAGGTGGCGGAGTACGAGGTCCCCACCGGCCGCCCAAGCGGGGCCGCGAACTGTTCTCGAGGCAACAGCGCGCCCTGGTAGGCACTGCCGTCTCGGCCCCCCGCGCTGCCGCCGCTGCCGGGCCCCGAGGGGCTGTGCGCGAAAGGGAAGGCGGTGGCCCCGGGCGGGTGCGCGGCTGGGGGGTGCGGACTGCCCGGGCCGAAGGCCGACGAATCCGCGGTGGCTGTCTGCGCCCAGCCGGGGCGCGCAGCGAGCTCGGGGGGCTGCGGGCTCGGCTCACACCCGGACAGGTAGGACAGCATCGAGGGGACGCGCGCCGGCGGCACAAACATCGGAGAGCCGGCGCCCGGAGCGTGCAGGAAGGAGCCCGAGTCGGCGTAGGCGGCCTGGCGGGGGCTCGCGGCCAGCGCCAGGCTCTGGTACATCCTCCCAGGCGTGGTCTTGACCTGCAGGGAAGA
Task1_train_28022
A variant was discovered on Chromosome 20, affecting GATA5 (GATA binding protein 5). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Congenital heart defects, multiple types, 5
GCAGTGGTGCCATCTCGGCTCATTGCAGCCTCAGCCTCTCAGCTCAAAAGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACCATGGGTGTGTGCCATCGTGACTGGCTAACTTTTAAATTTTTTGTAGAGACCTGGTCTCCCTATGTTGCCCAAGCTGGTTTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGCACAGGACCAATTTATTTATTTTTAGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCCTTGGTGTGATCATAGCTTACTATACCCTTGAACTCTTGGGCTCAAGTGATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGTGCTACCATGTCTGACTAATTTCTTTTTTTTTTTTTTTTTTAAATTTTTAGTGGAGATGGGTTCTTGCTATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTTAAGCAATCCTCCTGCTTCAGCCTTCCAAAATTCTGGGACTATAGGTATGAGCCACCGTGCCTGGCCCCTAACCCCTTCTTAACCTCAGTGGTTAACCCCTCAGTGAGGGCCACGTGGACGCCAGGCTGGAACAGCACACCTGGGAGCACAGGCAGAGTCACAGCGGCACACAAGCCAAGAGGGGGATGGACTCCTAGGAGCCTTCCCTCCGAGAGGCAGGCATGGGAGGAGGCTGGGCCTGCAGAGCCCCAGGCCCTAGGCCAGCTCCAAGGAAGAGAAGTGACGGCCGCCCCCGGCCTGTGGTCCTGCTTCCCACCACCTGCTCCACTGGGACCTCCCACGCTCAGGTCCTGGTCCCCCACAGCCCAGGGCCCCAGGATTTCCCCTCAGCCTGTAACTGAGGGATGTTCAGAGCTGCACCGGCATAGCACGCGAATCCAGGCATCTAGAACAGCCACCCGGCAAGGACAGCGGCAGGAGGGCTGGCCTCCACCCAGGGTGACGGCGGGAGCTGGCTGATCGACCCCGCACGGAGTCCACACCACCAGCGGAGGAGGACTTGGTGCCCAGGAACATACCCTTGCTCAGCCTTCTGACCCAGGTGCCACTGTGGCCTCCCCAATTTTAGATAACTTGCAAACGACATCAACACCCCAAATCCTTATTTGTACAATTACTCGAAAGTAAAGGTTTGCCTGGGGAAACGTATAGAACAAAGCAACTTTCAGCCTCTTCCAGCCTCTGGGGACTGTGCCCTGCCTGGGGCAAAAGTCCAGGCTCCGGAGTCCCCCACTCCCTGCTCAGCCACAAGCCAGGAAGAACCAAAAGTGAAAACAAGTTTAGCCCATGAGGCAGAGGACAGGCATAAACCTGGTGTCCCTGCGGTCCCTGAAATATGGGTAGAAAGTGCTCCCCGAGGGGACTACAGACCCAAAGACTCTCCAGTTTCAGATTTCAAGGCCCTTCAATCAAGTATCCAGCAGCCACCTTCCCTCAAGCCTCATCCCAGGTAGGGTCACCTTGAGGCCTCCGAGACAGGGCCAGGCCACAGCCAGCCACCACCGACTCGTAGGGCTGAGCTCCTGGCTCCTGGCAGCAGGCCTTCTTGGACCCAGCACTCAGCTGAGCCTGGCTGACACCGTTGCTCCAGAGCCTGGGCTCCTGGCCCCCAGAGCGCTCCAGGGCTGGGCGCTATGAGCTGGTGGCCCCTGGCATCCCCACTGGGATCCCCTGCCCTGCCCTGAGCGCTCTCAAAGAAGACCTGAGCCGGCCTGACCTGACCCACCGGGGCGGGCACCCAGGCTGTTTTTGGGACACTCCCTACCCCCTACCCCAGGGGCTCTGGTGTCACCTGGGTGGATTGCAAGAGGTCCCCTCGGGGGAGCACTGCGCCCAGGCGCCCCTCTGCCCAGCCCGAACTCACCAGGCGCTTCTGAGGCCGAACGAGCGGCCGGTTGACGCCATTCATCTTGTGGTAGAGGCCGCAGGCATTGCACAGGTAGTGGCCGGTGCCGTCTCGGCGCCACAGCGGTGTGGACAGGGCCCCGCAGTTGACACACTCACGACCCTCACCCGGGAACTCCTCCAAGAAGTCGGACACTGAGGGGACAGGCAGCTGGTGGGCCCGGGCCCTCCCCTCCCCAGGATCCTCCCCAGCTCATGGGCCGGCACCCTCCCCTCCCCAGGAGCCTGGCGGCTTTCGTCAGACGAATAAACTTAAGGCACAAATCTTGTGCCTTAGATGTATTTTATTTTAAAATTTATTTGCTTACTTCATCTTATTTTTAAATTTTTAATTCACATACGATAAAATTCGCTAGGGTTGGTTTTTCGAGGATGGGGTGTTAATAAACAGAACCTGAAGACAGACACCTGGGACTCCCGGCTCCGGGACCGGGGGCCAGCACTGGCCTCTGCCTGTTTGACCTGCTGGGAAAGCAGGGTGTCTACACTGGCGGGGGAGGTGGATGAAGTGGTGTCTACACTGGCAGGGGAGGGATGAAGGGGCTTTATCTGGCAGACACTCTTGGGCGCCCCTGGGCTCTCCTGGGAACGCTAACCCCGCTGTCCTCCTGTTCTGCAAAGCGGGTCCATGACAGGGGTGGGGGGTTGGGAGGGTGGAGGAGGTGCCTTCTGTCAGCTTGGCTGTGGTCGCAACCAGTGTCCTTCCTTTAGAAGGCCAGCCCCGCCTCACAGCCCCCTGGGGCCGGGCTTCGCACACTGTGCGGCTGGGGGTGGAGGTCTTCCTGGTCCCCTCCAGGCCCGGCCCGGCGCCGGCGCGAGGGAGGCCCGGGCGCCGAGTGGGGGTGGGGCAGGGATCAATCATCGCCCCGCCGGGGGTGGGCGCCAGCAGCCGGGCTGTCCAGGGAGGCGGGGGCCAGGGGTCCTGCGGATGCCGCTGCGCCCGCTTCCTGCGCCAAAGGGCCGGCGGGGTCCCAAAGGCAGCTCCGGAGCTGGGTGTCGAGGCCTCCAAGGTCCCGGAGGGACGGGATGGGCCCCTGCGGAGCTCAGAGGAGCCGCCTTCGCCAGAAAGTGACTACGCTGCAACCGGGAAGAGCCGCTCCCCTCACAGGCCGAGAATCCGATTCTCCAAACTGATACTCGGGAAGCGACTGAAACCAGGTCTCAAATTAAAATCAGTAAACGTCCTAGAACCGAGACGAATGTGGCCACTTAAATAAACCGATGTTTTGGGCTTTATAAAAATCGTTTCCAAAACTTTTCAAAAACAAAAACAAAAACGATTAAGACTTTTGAGGCTCCACATTGGCACAATCCGGAATGCTGTTTGGAAATAGATGTTCCTTCTCATTAACAGGTTAAAACAGAATTCTGGATGGGTGTTTCCCGTGCGGGGTGTTACCCAGGTTTACTCGTCTCGCCCCGGGGCTGCTGGTGTCGCTCCTGGCAGGGAGGCTCGGACCGTGGGGGAGGATGAGGGGAGCGTTTCGCAGGGTGCGGGTTTGCACCCGGATTCGGCCGCTCCTGGGCCCCGAGACTGTGGAGCCCCCGCACTCACCGAAGGTGGGCCTGCGGCCTGGGAGGCCGTGCAGGACGCTGCCATCGAAGGGCCCGGCAGTCCAGGACTGGGCCACGTCGGGGCTCACGTAGGCCGGGTAGGTGGCGGAGTACGAGGTCCCCACCGGCCGCCCAAGCGGGGCCGCGAACTGTTCTCGAGGCAACAGCGCGCCCTGGTAGGCACTGCCGTCTCGGCCCCCCGCGCTGCCGCCGCTGCCGGGCCCCGAGGGGCTGTGCGCGAAAGGGAAGGCGGTGGCCCCGGGCGGGTGCGCGGCTGGGGGGTGCGGACTGCCCGGGCCGAAGGCCGACGAATCCGCGGTGGCTGTCTGCGCCCAGCCGGGGCGCGCAGCGAGCTCGGGGGGCTGCGGGCTCGGCTCACACCCGGACAGGTAGGACAGCATCGAGGGGACGCGCGCCGGCGGCACAAACATCGGAGAGCCGGCGCCCGGAGCGTGCAGGAAGGAGCCCGAGTCGGCGTAGGCGGCCTGGCGGGGGCTCGCGGCCAGCGCCAGGCTCTGGTACATCCTCCCAGGCGTGGTCTTGACCTGCAGGGAAGAGGGACAGGTGTGGAGGTCACGGGAGC
GCAGTGGTGCCATCTCGGCTCATTGCAGCCTCAGCCTCTCAGCTCAAAAGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACCATGGGTGTGTGCCATCGTGACTGGCTAACTTTTAAATTTTTTGTAGAGACCTGGTCTCCCTATGTTGCCCAAGCTGGTTTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGCACAGGACCAATTTATTTATTTTTAGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCCTTGGTGTGATCATAGCTTACTATACCCTTGAACTCTTGGGCTCAAGTGATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGTGCTACCATGTCTGACTAATTTCTTTTTTTTTTTTTTTTTTAAATTTTTAGTGGAGATGGGTTCTTGCTATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTTAAGCAATCCTCCTGCTTCAGCCTTCCAAAATTCTGGGACTATAGGTATGAGCCACCGTGCCTGGCCCCTAACCCCTTCTTAACCTCAGTGGTTAACCCCTCAGTGAGGGCCACGTGGACGCCAGGCTGGAACAGCACACCTGGGAGCACAGGCAGAGTCACAGCGGCACACAAGCCAAGAGGGGGATGGACTCCTAGGAGCCTTCCCTCCGAGAGGCAGGCATGGGAGGAGGCTGGGCCTGCAGAGCCCCAGGCCCTAGGCCAGCTCCAAGGAAGAGAAGTGACGGCCGCCCCCGGCCTGTGGTCCTGCTTCCCACCACCTGCTCCACTGGGACCTCCCACGCTCAGGTCCTGGTCCCCCACAGCCCAGGGCCCCAGGATTTCCCCTCAGCCTGTAACTGAGGGATGTTCAGAGCTGCACCGGCATAGCACGCGAATCCAGGCATCTAGAACAGCCACCCGGCAAGGACAGCGGCAGGAGGGCTGGCCTCCACCCAGGGTGACGGCGGGAGCTGGCTGATCGACCCCGCACGGAGTCCACACCACCAGCGGAGGAGGACTTGGTGCCCAGGAACATACCCTTGCTCAGCCTTCTGACCCAGGTGCCACTGTGGCCTCCCCAATTTTAGATAACTTGCAAACGACATCAACACCCCAAATCCTTATTTGTACAATTACTCGAAAGTAAAGGTTTGCCTGGGGAAACGTATAGAACAAAGCAACTTTCAGCCTCTTCCAGCCTCTGGGGACTGTGCCCTGCCTGGGGCAAAAGTCCAGGCTCCGGAGTCCCCCACTCCCTGCTCAGCCACAAGCCAGGAAGAACCAAAAGTGAAAACAAGTTTAGCCCATGAGGCAGAGGACAGGCATAAACCTGGTGTCCCTGCGGTCCCTGAAATATGGGTAGAAAGTGCTCCCCGAGGGGACTACAGACCCAAAGACTCTCCAGTTTCAGATTTCAAGGCCCTTCAATCAAGTATCCAGCAGCCACCTTCCCTCAAGCCTCATCCCAGGTAGGGTCACCTTGAGGCCTCCGAGACAGGGCCAGGCCACAGCCAGCCACCACCGACTCGTAGGGCTGAGCTCCTGGCTCCTGGCAGCAGGCCTTCTTGGACCCAGCACTCAGCTGAGCCTGGCTGACACCGTTGCTCCAGAGCCTGGGCTCCTGGCCCCCAGAGCGCTCCAGGGCTGGGCGCTATGAGCTGGTGGCCCCTGGCATCCCCACTGGGATCCCCTGCCCTGCCCTGAGCGCTCTCAAAGAAGACCTGAGCCGGCCTGACCTGACCCACCGGGGCGGGCACCCAGGCTGTTTTTGGGACACTCCCTACCCCCTACCCCAGGGGCTCTGGTGTCACCTGGGTGGATTGCAAGAGGTCCCCTCGGGGGAGCACTGCGCCCAGGCGCCCCTCTGCCCAGCCCGAACTCACCAGGCGCTTCTGAGGCCGAACGAGCGGCCGGTTGACGCCATTCATCTTGTGGTAGAGGCCGCAGGCATTGCACAGGTAGTGGCCGGTGCCGTCTCGGCGCCACAGCGGTGTGGACAGGGCCCCGCAGTTGGCACACTCACGACCCTCACCCGGGAACTCCTCCAAGAAGTCGGACACTGAGGGGACAGGCAGCTGGTGGGCCCGGGCCCTCCCCTCCCCAGGATCCTCCCCAGCTCATGGGCCGGCACCCTCCCCTCCCCAGGAGCCTGGCGGCTTTCGTCAGACGAATAAACTTAAGGCACAAATCTTGTGCCTTAGATGTATTTTATTTTAAAATTTATTTGCTTACTTCATCTTATTTTTAAATTTTTAATTCACATACGATAAAATTCGCTAGGGTTGGTTTTTCGAGGATGGGGTGTTAATAAACAGAACCTGAAGACAGACACCTGGGACTCCCGGCTCCGGGACCGGGGGCCAGCACTGGCCTCTGCCTGTTTGACCTGCTGGGAAAGCAGGGTGTCTACACTGGCGGGGGAGGTGGATGAAGTGGTGTCTACACTGGCAGGGGAGGGATGAAGGGGCTTTATCTGGCAGACACTCTTGGGCGCCCCTGGGCTCTCCTGGGAACGCTAACCCCGCTGTCCTCCTGTTCTGCAAAGCGGGTCCATGACAGGGGTGGGGGGTTGGGAGGGTGGAGGAGGTGCCTTCTGTCAGCTTGGCTGTGGTCGCAACCAGTGTCCTTCCTTTAGAAGGCCAGCCCCGCCTCACAGCCCCCTGGGGCCGGGCTTCGCACACTGTGCGGCTGGGGGTGGAGGTCTTCCTGGTCCCCTCCAGGCCCGGCCCGGCGCCGGCGCGAGGGAGGCCCGGGCGCCGAGTGGGGGTGGGGCAGGGATCAATCATCGCCCCGCCGGGGGTGGGCGCCAGCAGCCGGGCTGTCCAGGGAGGCGGGGGCCAGGGGTCCTGCGGATGCCGCTGCGCCCGCTTCCTGCGCCAAAGGGCCGGCGGGGTCCCAAAGGCAGCTCCGGAGCTGGGTGTCGAGGCCTCCAAGGTCCCGGAGGGACGGGATGGGCCCCTGCGGAGCTCAGAGGAGCCGCCTTCGCCAGAAAGTGACTACGCTGCAACCGGGAAGAGCCGCTCCCCTCACAGGCCGAGAATCCGATTCTCCAAACTGATACTCGGGAAGCGACTGAAACCAGGTCTCAAATTAAAATCAGTAAACGTCCTAGAACCGAGACGAATGTGGCCACTTAAATAAACCGATGTTTTGGGCTTTATAAAAATCGTTTCCAAAACTTTTCAAAAACAAAAACAAAAACGATTAAGACTTTTGAGGCTCCACATTGGCACAATCCGGAATGCTGTTTGGAAATAGATGTTCCTTCTCATTAACAGGTTAAAACAGAATTCTGGATGGGTGTTTCCCGTGCGGGGTGTTACCCAGGTTTACTCGTCTCGCCCCGGGGCTGCTGGTGTCGCTCCTGGCAGGGAGGCTCGGACCGTGGGGGAGGATGAGGGGAGCGTTTCGCAGGGTGCGGGTTTGCACCCGGATTCGGCCGCTCCTGGGCCCCGAGACTGTGGAGCCCCCGCACTCACCGAAGGTGGGCCTGCGGCCTGGGAGGCCGTGCAGGACGCTGCCATCGAAGGGCCCGGCAGTCCAGGACTGGGCCACGTCGGGGCTCACGTAGGCCGGGTAGGTGGCGGAGTACGAGGTCCCCACCGGCCGCCCAAGCGGGGCCGCGAACTGTTCTCGAGGCAACAGCGCGCCCTGGTAGGCACTGCCGTCTCGGCCCCCCGCGCTGCCGCCGCTGCCGGGCCCCGAGGGGCTGTGCGCGAAAGGGAAGGCGGTGGCCCCGGGCGGGTGCGCGGCTGGGGGGTGCGGACTGCCCGGGCCGAAGGCCGACGAATCCGCGGTGGCTGTCTGCGCCCAGCCGGGGCGCGCAGCGAGCTCGGGGGGCTGCGGGCTCGGCTCACACCCGGACAGGTAGGACAGCATCGAGGGGACGCGCGCCGGCGGCACAAACATCGGAGAGCCGGCGCCCGGAGCGTGCAGGAAGGAGCCCGAGTCGGCGTAGGCGGCCTGGCGGGGGCTCGCGGCCAGCGCCAGGCTCTGGTACATCCTCCCAGGCGTGGTCTTGACCTGCAGGGAAGAGGGACAGGTGTGGAGGTCACGGGAGC
Task1_train_28023
A variant affecting Chromosome 20, within the gene GATA5 (GATA binding protein 5), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Congenital heart defects, multiple types, 5
GGCCGGTTGACGCCATTCATCTTGTGGTAGAGGCCGCAGGCATTGCACAGGTAGTGGCCGGTGCCGTCTCGGCGCCACAGCGGTGTGGACAGGGCCCCGCAGTTGACACACTCACGACCCTCACCCGGGAACTCCTCCAAGAAGTCGGACACTGAGGGGACAGGCAGCTGGTGGGCCCGGGCCCTCCCCTCCCCAGGATCCTCCCCAGCTCATGGGCCGGCACCCTCCCCTCCCCAGGAGCCTGGCGGCTTTCGTCAGACGAATAAACTTAAGGCACAAATCTTGTGCCTTAGATGTATTTTATTTTAAAATTTATTTGCTTACTTCATCTTATTTTTAAATTTTTAATTCACATACGATAAAATTCGCTAGGGTTGGTTTTTCGAGGATGGGGTGTTAATAAACAGAACCTGAAGACAGACACCTGGGACTCCCGGCTCCGGGACCGGGGGCCAGCACTGGCCTCTGCCTGTTTGACCTGCTGGGAAAGCAGGGTGTCTACACTGGCGGGGGAGGTGGATGAAGTGGTGTCTACACTGGCAGGGGAGGGATGAAGGGGCTTTATCTGGCAGACACTCTTGGGCGCCCCTGGGCTCTCCTGGGAACGCTAACCCCGCTGTCCTCCTGTTCTGCAAAGCGGGTCCATGACAGGGGTGGGGGGTTGGGAGGGTGGAGGAGGTGCCTTCTGTCAGCTTGGCTGTGGTCGCAACCAGTGTCCTTCCTTTAGAAGGCCAGCCCCGCCTCACAGCCCCCTGGGGCCGGGCTTCGCACACTGTGCGGCTGGGGGTGGAGGTCTTCCTGGTCCCCTCCAGGCCCGGCCCGGCGCCGGCGCGAGGGAGGCCCGGGCGCCGAGTGGGGGTGGGGCAGGGATCAATCATCGCCCCGCCGGGGGTGGGCGCCAGCAGCCGGGCTGTCCAGGGAGGCGGGGGCCAGGGGTCCTGCGGATGCCGCTGCGCCCGCTTCCTGCGCCAAAGGGCCGGCGGGGTCCCAAAGGCAGCTCCGGAGCTGGGTGTCGAGGCCTCCAAGGTCCCGGAGGGACGGGATGGGCCCCTGCGGAGCTCAGAGGAGCCGCCTTCGCCAGAAAGTGACTACGCTGCAACCGGGAAGAGCCGCTCCCCTCACAGGCCGAGAATCCGATTCTCCAAACTGATACTCGGGAAGCGACTGAAACCAGGTCTCAAATTAAAATCAGTAAACGTCCTAGAACCGAGACGAATGTGGCCACTTAAATAAACCGATGTTTTGGGCTTTATAAAAATCGTTTCCAAAACTTTTCAAAAACAAAAACAAAAACGATTAAGACTTTTGAGGCTCCACATTGGCACAATCCGGAATGCTGTTTGGAAATAGATGTTCCTTCTCATTAACAGGTTAAAACAGAATTCTGGATGGGTGTTTCCCGTGCGGGGTGTTACCCAGGTTTACTCGTCTCGCCCCGGGGCTGCTGGTGTCGCTCCTGGCAGGGAGGCTCGGACCGTGGGGGAGGATGAGGGGAGCGTTTCGCAGGGTGCGGGTTTGCACCCGGATTCGGCCGCTCCTGGGCCCCGAGACTGTGGAGCCCCCGCACTCACCGAAGGTGGGCCTGCGGCCTGGGAGGCCGTGCAGGACGCTGCCATCGAAGGGCCCGGCAGTCCAGGACTGGGCCACGTCGGGGCTCACGTAGGCCGGGTAGGTGGCGGAGTACGAGGTCCCCACCGGCCGCCCAAGCGGGGCCGCGAACTGTTCTCGAGGCAACAGCGCGCCCTGGTAGGCACTGCCGTCTCGGCCCCCCGCGCTGCCGCCGCTGCCGGGCCCCGAGGGGCTGTGCGCGAAAGGGAAGGCGGTGGCCCCGGGCGGGTGCGCGGCTGGGGGGTGCGGACTGCCCGGGCCGAAGGCCGACGAATCCGCGGTGGCTGTCTGCGCCCAGCCGGGGCGCGCAGCGAGCTCGGGGGGCTGCGGGCTCGGCTCACACCCGGACAGGTAGGACAGCATCGAGGGGACGCGCGCCGGCGGCACAAACATCGGAGAGCCGGCGCCCGGAGCGTGCAGGAAGGAGCCCGAGTCGGCGTAGGCGGCCTGGCGGGGGCTCGCGGCCAGCGCCAGGCTCTGGTACATCCTCCCAGGCGTGGTCTTGACCTGCAGGGAAGAGGGACAGGTGTGGAGGTCACGGGAGCTCTGCGCCCTCCGCCAGCGCCCGAGCTTATGCCGGGCAGGTGCCGCCGCTTCGGGCAGCGCTTCCCAGTCCCCAGCCCGGGACGTTCGCGGGGCGGGTCCCCGAACCCGAGGGAGAGGAACCGCGGGGATGGGAGAGGCCAGCGCGTCATCCCCGGGGCAGTCACAACGCCGAGCCCACCTCCTCCCCGACCGGGCTTCGGAGGTCCCCGGGGTGAGCTCGGTGGGGGCCTGGGAAGGACGGGCCTGGCGCGGCCGCAGGACGCAGGGCCTGGAGAGCGGGGCCCCGCCGCGCTGGGAGGGGCCGGGTGGGGAGGGGCGCGCGGCTGCAGCCCGGGCTGGAGCACTCACCAGCGGGCAGGGAGGGCGGCAGGGCACGGCGGTGGCGGTGGGTCGGCGACCGGCGGGCCGAAGACTGGAAGCCCGGGCCGCTGAGGCTCCGCAGCCCCCTCCGCGCCGCCCCGGCCCGCCCCCGCCGCGCCGCCCCTTCCCTCCCCGCGCCCGCCCCTTCTTCCCCGCAGGGTCAGCGCTGGGGCTCCGGCCGTAGAGCCACGTGACCCTGGCAGGCCCTGCTCGCGGGGCTTGGCGACAAGGACGCACGACACGGGGCGGCCAGCGCGGAGCCCGGACCAGTGCAGCTAGACGGGCGGGCCGAGGGCTTCGTGGGCCCCGGGGAGTCGGGCGCAGAGACTTCTCCAAGTTTGTGCGAGTCCCGAGCCCTCTGCCTCCCTGCCCCGGCCCCCGCCGAAGGCTGGCCTAAAGACGGGCTCCGTGTCTGGTGGCTGAGTCGGTGATCCCGGCCCCGCTCACCGATGGACACGCGGCGGTGGAACCCCGTGGGCCCCCTCGTTGCGTGGCCGCACCCGGGGCTCGGTGCAGGGAACCGGCTTCCATAGGGACGGCCGGCTCGGGTCGCTGGACTGGGACGGGGTGCACTGGCGGGAGCCCCGCGATTTCCTCGGTTTCTGAGCAAGCGGGGCCACAAGGCTCGGGGTCCCAGTGGGAGGTGGGCAGGGTCCAGCCTCTAAGGCCCGATCTGGGTGCCAGGCTCGAAGGCCCCAACCCCGGTGGGGCTCTCAGCCGGCTCTCGGGGACTCGGGAAGAGTTTCCTCCAGGCGCCAGAAATGCGTGTGGGTAGGAGGCGACCCAGGTCAGGGAACCGTGTCCCGCTCGCACTCCCGGTGAGGGCTGCATGGAGGCGCCGCTGCCGCGGAGCAGCTCCGCAGGTTGCGGGAAACGGAACGGCGGGCTCGGAGCACACCGGGTGGACCCAGGCTTGGCGGCCATGAAAGTTCTTTTTTTCTTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTTCTTTCTCGGAGCACACCGGGTGGACCCAGGCTTGGCGGCCATGAAAGTTCTTTTTTCTTTCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCGGAGCACACCGGGTGGACCCAGGCGTGGTGGCCATGAAAGTTCTTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTTGCGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGCGGCGCGATCTCAGCTCACCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTAGGACTACAGGCACCCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAT
GGCCGGTTGACGCCATTCATCTTGTGGTAGAGGCCGCAGGCATTGCACAGGTAGTGGCCGGTGCCGTCTCGGCGCCACAGCGGTGTGGACAGGGCCCCGCAGTTGACACACTCACGACCCTCACCCGGGAACTCCTCCAAGAAGTCGGACACTGAGGGGACAGGCAGCTGGTGGGCCCGGGCCCTCCCCTCCCCAGGATCCTCCCCAGCTCATGGGCCGGCACCCTCCCCTCCCCAGGAGCCTGGCGGCTTTCGTCAGACGAATAAACTTAAGGCACAAATCTTGTGCCTTAGATGTATTTTATTTTAAAATTTATTTGCTTACTTCATCTTATTTTTAAATTTTTAATTCACATACGATAAAATTCGCTAGGGTTGGTTTTTCGAGGATGGGGTGTTAATAAACAGAACCTGAAGACAGACACCTGGGACTCCCGGCTCCGGGACCGGGGGCCAGCACTGGCCTCTGCCTGTTTGACCTGCTGGGAAAGCAGGGTGTCTACACTGGCGGGGGAGGTGGATGAAGTGGTGTCTACACTGGCAGGGGAGGGATGAAGGGGCTTTATCTGGCAGACACTCTTGGGCGCCCCTGGGCTCTCCTGGGAACGCTAACCCCGCTGTCCTCCTGTTCTGCAAAGCGGGTCCATGACAGGGGTGGGGGGTTGGGAGGGTGGAGGAGGTGCCTTCTGTCAGCTTGGCTGTGGTCGCAACCAGTGTCCTTCCTTTAGAAGGCCAGCCCCGCCTCACAGCCCCCTGGGGCCGGGCTTCGCACACTGTGCGGCTGGGGGTGGAGGTCTTCCTGGTCCCCTCCAGGCCCGGCCCGGCGCCGGCGCGAGGGAGGCCCGGGCGCCGAGTGGGGGTGGGGCAGGGATCAATCATCGCCCCGCCGGGGGTGGGCGCCAGCAGCCGGGCTGTCCAGGGAGGCGGGGGCCAGGGGTCCTGCGGATGCCGCTGCGCCCGCTTCCTGCGCCAAAGGGCCGGCGGGGTCCCAAAGGCAGCTCCGGAGCTGGGTGTCGAGGCCTCCAAGGTCCCGGAGGGACGGGATGGGCCCCTGCGGAGCTCAGAGGAGCCGCCTTCGCCAGAAAGTGACTACGCTGCAACCGGGAAGAGCCGCTCCCCTCACAGGCCGAGAATCCGATTCTCCAAACTGATACTCGGGAAGCGACTGAAACCAGGTCTCAAATTAAAATCAGTAAACGTCCTAGAACCGAGACGAATGTGGCCACTTAAATAAACCGATGTTTTGGGCTTTATAAAAATCGTTTCCAAAACTTTTCAAAAACAAAAACAAAAACGATTAAGACTTTTGAGGCTCCACATTGGCACAATCCGGAATGCTGTTTGGAAATAGATGTTCCTTCTCATTAACAGGTTAAAACAGAATTCTGGATGGGTGTTTCCCGTGCGGGGTGTTACCCAGGTTTACTCGTCTCGCCCCGGGGCTGCTGGTGTCGCTCCTGGCAGGGAGGCTCGGACCGTGGGGGAGGATGAGGGGAGCGTTTCGCAGGGTGCGGGTTTGCACCCGGATTCGGCCGCTCCTGGGCCCCGAGACTGTGGAGCCCCCGCACTCACCGAAGGTGGGCCTGCGGCCTGGGAGGCCGTGCAGGACGCTGCCATCGAAGGGCCCGGCAGTCCAGGACTGGGCCACGTCGGGGCTCACGTAGGCCGGGTAGGTGGCGGAGTACGAGGTCCCCACCGGCCGCCCAAGCGGGGCCGCGAACTGTTCTCGAGGCAACAGCGCGCCCTGGTAGGCACTGCCGTCTCGGCCCCCCGCGCTGCCGCCGCTGCCGGGCCCCGAGGGGCTGTGCGCGAAAGGGAAGGCGGTGGCCCCGGGCGGGTGCGCGGCTGGGGGGTGCGGACTGCCCGGGCCGAAGGCCGACGAATCCGCGGTGGCTGTCTGCGCCCAGCCGGGGCGCGCAGCGAGCTCGGGGGGCTGCGGGCTCGGCTCACACCCGGACAGGTAGGACAGCATCGAGGGGACGCGCGCCGGCGGCACAAACATCGGAGAGCCGGCGCCCGGAGCGTGCAGGAAGGAGCCCGAGTCGGCGTCGGCGGCCTGGCGGGGGCTCGCGGCCAGCGCCAGGCTCTGGTACATCCTCCCAGGCGTGGTCTTGACCTGCAGGGAAGAGGGACAGGTGTGGAGGTCACGGGAGCTCTGCGCCCTCCGCCAGCGCCCGAGCTTATGCCGGGCAGGTGCCGCCGCTTCGGGCAGCGCTTCCCAGTCCCCAGCCCGGGACGTTCGCGGGGCGGGTCCCCGAACCCGAGGGAGAGGAACCGCGGGGATGGGAGAGGCCAGCGCGTCATCCCCGGGGCAGTCACAACGCCGAGCCCACCTCCTCCCCGACCGGGCTTCGGAGGTCCCCGGGGTGAGCTCGGTGGGGGCCTGGGAAGGACGGGCCTGGCGCGGCCGCAGGACGCAGGGCCTGGAGAGCGGGGCCCCGCCGCGCTGGGAGGGGCCGGGTGGGGAGGGGCGCGCGGCTGCAGCCCGGGCTGGAGCACTCACCAGCGGGCAGGGAGGGCGGCAGGGCACGGCGGTGGCGGTGGGTCGGCGACCGGCGGGCCGAAGACTGGAAGCCCGGGCCGCTGAGGCTCCGCAGCCCCCTCCGCGCCGCCCCGGCCCGCCCCCGCCGCGCCGCCCCTTCCCTCCCCGCGCCCGCCCCTTCTTCCCCGCAGGGTCAGCGCTGGGGCTCCGGCCGTAGAGCCACGTGACCCTGGCAGGCCCTGCTCGCGGGGCTTGGCGACAAGGACGCACGACACGGGGCGGCCAGCGCGGAGCCCGGACCAGTGCAGCTAGACGGGCGGGCCGAGGGCTTCGTGGGCCCCGGGGAGTCGGGCGCAGAGACTTCTCCAAGTTTGTGCGAGTCCCGAGCCCTCTGCCTCCCTGCCCCGGCCCCCGCCGAAGGCTGGCCTAAAGACGGGCTCCGTGTCTGGTGGCTGAGTCGGTGATCCCGGCCCCGCTCACCGATGGACACGCGGCGGTGGAACCCCGTGGGCCCCCTCGTTGCGTGGCCGCACCCGGGGCTCGGTGCAGGGAACCGGCTTCCATAGGGACGGCCGGCTCGGGTCGCTGGACTGGGACGGGGTGCACTGGCGGGAGCCCCGCGATTTCCTCGGTTTCTGAGCAAGCGGGGCCACAAGGCTCGGGGTCCCAGTGGGAGGTGGGCAGGGTCCAGCCTCTAAGGCCCGATCTGGGTGCCAGGCTCGAAGGCCCCAACCCCGGTGGGGCTCTCAGCCGGCTCTCGGGGACTCGGGAAGAGTTTCCTCCAGGCGCCAGAAATGCGTGTGGGTAGGAGGCGACCCAGGTCAGGGAACCGTGTCCCGCTCGCACTCCCGGTGAGGGCTGCATGGAGGCGCCGCTGCCGCGGAGCAGCTCCGCAGGTTGCGGGAAACGGAACGGCGGGCTCGGAGCACACCGGGTGGACCCAGGCTTGGCGGCCATGAAAGTTCTTTTTTTCTTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTTCTTTCTCGGAGCACACCGGGTGGACCCAGGCTTGGCGGCCATGAAAGTTCTTTTTTCTTTCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCGGAGCACACCGGGTGGACCCAGGCGTGGTGGCCATGAAAGTTCTTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTTGCGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGCGGCGCGATCTCAGCTCACCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTAGGACTACAGGCACCCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAT
Task1_train_28024
The gene SLC17A9 (solute carrier family 17 member 9) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Porokeratosis 8, disseminated superficial actinic type
TTAGGTGTCTGGTAGGGGAGGCCAAGGGAGGCTGGCGCCCATGTGCAACCTGAGGCATGGACGAGGCCTGCTGACCCCTCTGGAACCACCCCCAAATCCCCAATCCTTTGGCAACGGGTGGCGCCTCCCGCCCTGATAGCCATCAGTTTGAAACCGTTGCTCCCTCAGATCTCATCCTGGCCTTGGGTGTCCTGGCCCAAAGCCGGCCGGTGTCCAGGCACAACAGAGTCCCCTGGAGACGGCTCTTCCGGAAGCCTGCTGTCTGGTGAGCTGGGACCTGTGCCACCCCTTGGAGCAGCGGCAGGGCCGGTGACCATGGGGGTGTGAACCTGGCCGGACCTGACAGCCCTTGAGCCAGCAGGGCCTAGGGCTCAGAGAAGTGGGACTCTGGCCCCCAGGGGACGCCTCTCGGGGTGGGTCCCACAGGCCCGGCCAGCTCGTGCGGCACCAGAGTCACGGTCCACCATTGGGCCCCGCAGGGCAGCCGTCGTCTCCCAGCTCTCTGCAGCCTGCTCCTTCTTCATCCTCCTCTCCTGGCTGCCCACCTTCTTCGAGGAGACCTTCCCCGACGCCAAGGTGAGTCGGGGGCTCCCGCAGGGTGAAGGAGCGCCCAGAAGGCACGAGGCTTGAGCTGCACCAGGCACTGTGGGTCCTTGGCCTGCAGATGGTGGAACCCTCGGCTCCTCCTGGACTCTGAGGGTCCTGGCACTGCCAGGCTCTTCCTCTGGAGAGGACCCCGTCCATGCTCGGGGCAGGTTTCTGTGTTTGAGGCTGGAAATGATGCGGGCGCTCGGTGCCTTCCTGCTGCGGCTGCAGCCCTCCCAGCCCTCATCGTGACCTGCTGGCCCACAGAACCCGACTTCAGAGCCTGAGGAGGCCGGTGCAGAAGCCGGGATGTGGACAGAGGGGTCACCTGCGGTCAGCACGGTTCCTTCTCTGAGGCTGTCTTGCTGCCCTGCCGGGTGGTGGTCAAGAGCTGCACATTCCCAGGAGCAGGGCTGGCCCTGCCGGAGAGCTTTCCTGGGCAGTGGTGGGCACGGGGGCGCTGTCCAGCCTGAGTATCCTCTTCCAGATGGCCAGATGCCGGCCCTGGCCCCCTCTAAGGCCAAACTCCCCCCTGCAGGGCTGGATCTTCAACGTGGTTCCTTGGTTGGTGGCGATTCCGGCCAGTCTATTCAGCGGGTTTCTCTCTGATCATCTCATCAATCAGGGTGAGCCCCAGGGAGGGGACCGGGGCTGGAAGCCACACCCTGGTTCACCTCGCTTTCGAGGGGCAGGATGCTCCCATCCTGGGGCTGCAGCTTCAGCACACGGAGAGCTGGGACAGAGGGGCACTTCTTTCCAGGCTCGGCCTCCTCCTTAAAGGGTGGGGTTAGACTGTGGTGGAGGGTCTGGTCTCACGGTGACTGTGGAGCTCACCCCTGGGGGCTGGATGCAGCCCCTGACCCTCCAGGAAGGCACCTGGAGGGGTCAGAGGTTACAAGCATCCTTGAACCTTTGGAAGAGCTTCTGTCTTTGTTCCATGTGCTCCAGACCCACGCTGGGATGAGCCCCGAGCGGGCTGCGTGTTTCTTCCCCTAGTGCAGTGTCCGCTGCACAGACACGTACAGGCGGATGCACACGCGTGCCCACATGCTCTCTCCACACGTGTGCCTATTCTTAGAATGTTCGTGTTTTTCCTAATTGCAAAAGGAATACACACTCGTTGTGGAAAAGCTAGAAAATCTGGAGCAGCAGAGGAAGTGGGGCCGCTCGCCTGTTTCCGCCTCTGTAACTGCTGTGTGGCTGTTCTGTGTTTCTGCCCAAACCCACGCCTTGGGAACCTTCCAAAGGCGCACATGCGGCCTCGCGGCTGCACCCCACATGCGTGTGTGCACACGTTTTTGCCTGCAGCACGGGATAGCTGTCTTGAGCCCCAAGCCTCTTCCTCCCCTGCTGCCCCTCTGCAGCCATTCGGGATGGGACCCCCTCTGGGGTGTCAGCACGAAAGGGCTAACGGGAGCCCCTTCCTTGGCCTCCCCCTGTAGGTTACAGAGCCATCACGGTGCGGAAGCTCATGCAGGTAGGAGAATCATTCCGGTCGTTCTCTCTGGATATCCCTGCTTTGTTCAGGGTCTCCCAGGAACTCAGGGTTGTGTCCCCAAGTCACCTGATATCTGGGACCAGGCAAATGCCAGGCCTCTCCATGTGTCCAGCACTGGGGCCCAGAAGGGGCTGTTTAGACAGCTGTTGGGGGGAAGGCTGGGGTCAGCATCCTGTGCCCCTCTGGGCCCAGGCCTGAGCTTGCCCACGTCGAATAGGGCCTCTCCCTTGGAGCGGGGCTGATTCTTGCGGAGACTCCTCCCAGACCTCCTCTAGGGGGCCTGGTCTGAGAGAAGTTTGTGGTCGCAGCCAACCTGACCGTTGTGCGGTGCGCCCAGGGGGGCTTTCGGGCAGCTGAGTCAGGAGAGGGCCCTGCTGCAGGCGGGCTGGGTGCCTCTCCGTCACGGTGGCGCTTTCCTGCAGGGCATGGGCCTTGGCCTCTCCAGCGTCTTTGCTCTGTGCCTGGGCCACACCTCCAGCTTCTGTGAGTCTGTGGTCTTTGCATCAGCCTCCATCGGCCTCCAGACCTTCAACCACAGGTGAGGGCCGACTGCTCCATCCACCAGAGCGCCGTGCTGCCCGCACGGCCGAGGCCCGCACATGTGAAGAGGGAGCTCTGTCCGCCTCTCTCAGTCTCTTCCTCACACTTCACCCCCTTCCCAAGCTGCTGGGCAGTGACTGCACTGAAGACCCAGTAGTTCTTTAGGAACCAGCAATTCACTTCAGTGAGCAGCACGTGCGCGTGATTTGTGCGAACATGCTTTCCCCACAGCACTTTACTCTAAGGAGTCGCTTCCTGCACTGGGTCCTCCATGAAGACGGGCAGCTGGGGCTCGGGTTGGCATGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGGTTGGCGTGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGGTTGGCATGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGGTTGGCGTGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGGTTGGCATGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGGTTGGCGTGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGGTTGGCGTGGTGTGCAGGGCTGCAGTGCTCTGGCCAGGGAGCAGGCCTGAGCGTGTCCCAGCCCCTCCCGTGGCTCCACGAGACCTTGCTTCCCCGCTTCCCCTGTGACAACCCTGGGCCACCAGCTCGGTGGTGGCCAGGGCCACTCACCACCCTCTTTCCTCCCCACAGTGGCATTTCTGTTAACATCCAGGACTTGGCCCCGTCCTGCGCCGGCTTTCTGTTTGGTGAGGACCTTGCCTTACCCCAGCTTTGCCCCTCCCTGGGCCTCCGGGTGGGTGAGCCATGGGGGATCCCGGAGGGCTTTTGCTGACCATCCATATTCTCTCTCGCTCTGGCCTCTTCACAGGTGTGGCCAACACAGCCGGGGCCTTGGCAGGTGAGGGGCGGGCCTCTGTGCCCAGGAGTTCCCCTGTCTGTGGGGTTTGAGGCCACCGAGGTGCTGCAGGGTGGGGTTGTGCCTCCCTTCAGAGGGGGTCCGGGTGTCAGAGGAGGGCACAGACCCCAGAGCAGGCCCAGGAGAGGAGGATGGGGCTGCCTTCCAGGTTCCACTGGACTTTGCTGACGGCAGGTGGCTCATGAGTCGCCATCTGCCCTGACTCACAGATATGTTCCCATCCTGGTAGCCCAGGGTCCCCGGGACACCTCCTGGCCCCGCTGAGTGCCATGGATGATGGGGGTCCTTCTTCAGCTCAGCCTCGCCTGGGCCGGCCTGTGGCTCCCATTTTCCTTTCAGCGGGACAAAGGGGACTTGTTACCAGGCCATTTTCTGGATGGCCTGTGAGATCTCTGCCCCTCCAAGACCCTCCAAGTCTGAGCCTGACCCACAGCTGGGACACTGAATTCA
TTAGGTGTCTGGTAGGGGAGGCCAAGGGAGGCTGGCGCCCATGTGCAACCTGAGGCATGGACGAGGCCTGCTGACCCCTCTGGAACCACCCCCAAATCCCCAATCCTTTGGCAACGGGTGGCGCCTCCCGCCCTGATAGCCATCAGTTTGAAACCGTTGCTCCCTCAGATCTCATCCTGGCCTTGGGTGTCCTGGCCCAAAGCCGGCCGGTGTCCAGGCACAACAGAGTCCCCTGGAGACGGCTCTTCCGGAAGCCTGCTGTCTGGTGAGCTGGGACCTGTGCCACCCCTTGGAGCAGCGGCAGGGCCGGTGACCATGGGGGTGTGAACCTGGCCGGACCTGACAGCCCTTGAGCCAGCAGGGCCTAGGGCTCAGAGAAGTGGGACTCTGGCCCCCAGGGGACGCCTCTCGGGGTGGGTCCCACAGGCCCGGCCAGCTCGTGCGGCACCAGAGTCACGGTCCACCATTGGGCCCCGCAGGGCAGCCGTCGTCTCCCAGCTCTCTGCAGCCTGCTCCTTCTTCATCCTCCTCTCCTGGCTGCCCACCTTCTTCGAGGAGACCTTCCCCGACGCCAAGGTGAGTCGGGGGCTCCCGCAGGGTGAAGGAGCGCCCAGAAGGCACGAGGCTTGAGCTGCACCAGGCACTGTGGGTCCTTGGCCTGCAGATGGTGGAACCCTCGGCTCCTCCTGGACTCTGAGGGTCCTGGCACTGCCAGGCTCTTCCTCTGGAGAGGACCCCGTCCATGCTCGGGGCAGGTTTCTGTGTTTGAGGCTGGAAATGATGCGGGCGCTCGGTGCCTTCCTGCTGCGGCTGCAGCCCTCCCAGCCCTCATCGTGACCTGCTGGCCCACAGAACCCGACTTCAGAGCCTGAGGAGGCCGGTGCAGAAGCCGGGATGTGGACAGAGGGGTCACCTGCGGTCAGCACGGTTCCTTCTCTGAGGCTGTCTTGCTGCCCTGCCGGGTGGTGGTCAAGAGCTGCACATTCCCAGGAGCAGGGCTGGCCCTGCCGGAGAGCTTTCCTGGGCAGTGGTGGGCACGGGGGCGCTGTCCAGCCTGAGTATCCTCTTCCAGATGGCCAGATGCCGGCCCTGGCCCCCTCTAAGGCCAAACTCCCCCCTGCAGGGCTGGATCTTCAACGTGGTTCCTTGGTTGGTGGCGATTCCGGCCAGTCTATTCAGCGGGTTTCTCTCTGATCATCTCATCAATCAGGGTGAGCCCCAGGGAGGGGACCGGGGCTGGAAGCCACACCCTGGTTCACCTCGCTTTCGAGGGGCAGGATGCTCCCATCCTGGGGCTGCAGCTTCAGCACACGGAGAGCTGGGACAGAGGGGCACTTCTTTCCAGGCTCGGCCTCCTCCTTAAAGGGTGGGGTTAGACTGTGGTGGAGGGTCTGGTCTCACGGTGACTGTGGAGCTCACCCCTGGGGGCTGGATGCAGCCCCTGACCCTCCAGGAAGGCACCTGGAGGGGTCAGAGGTTACAAGCATCCTTGAACCTTTGGAAGAGCTTCTGTCTTTGTTCCATGTGCTCCAGACCCACGCTGGGATGAGCCCCGAGCGGGCTGCGTGTTTCTTCCCCTAGTGCAGTGTCCGCTGCACAGACACGTACAGGCGGATGCACACGCGTGCCCACATGCTCTCTCCACACGTGTGCCTATTCTTAGAATGTTCGTGTTTTTCCTAATTGCAAAAGGAATACACACTCGTTGTGGAAAAGCTAGAAAATCTGGAGCAGCAGAGGAAGTGGGGCCGCTCGCCTGTTTCCGCCTCTGTAACTGCTGTGTGGCTGTTCTGTGTTTCTGCCCAAACCCACGCCTTGGGAACCTTCCAAAGGCGCACATGCGGCCTCGCGGCTGCACCCCACATGCGTGTGTGCACACGTTTTTGCCTGCAGCACGGGATAGCTGTCTTGAGCCCCAAGCCTCTTCCTCCCCTGCTGCCCCTCTGCAGCCATTCGGGATGGGACCCCCTCTGGGGTGTCAGCACGAAAGGGCTAACGGGAGCCCCTTCCTTGGCCTCCCCCTGTAGGTTACAGAGCCATCACGGTGCAGAAGCTCATGCAGGTAGGAGAATCATTCCGGTCGTTCTCTCTGGATATCCCTGCTTTGTTCAGGGTCTCCCAGGAACTCAGGGTTGTGTCCCCAAGTCACCTGATATCTGGGACCAGGCAAATGCCAGGCCTCTCCATGTGTCCAGCACTGGGGCCCAGAAGGGGCTGTTTAGACAGCTGTTGGGGGGAAGGCTGGGGTCAGCATCCTGTGCCCCTCTGGGCCCAGGCCTGAGCTTGCCCACGTCGAATAGGGCCTCTCCCTTGGAGCGGGGCTGATTCTTGCGGAGACTCCTCCCAGACCTCCTCTAGGGGGCCTGGTCTGAGAGAAGTTTGTGGTCGCAGCCAACCTGACCGTTGTGCGGTGCGCCCAGGGGGGCTTTCGGGCAGCTGAGTCAGGAGAGGGCCCTGCTGCAGGCGGGCTGGGTGCCTCTCCGTCACGGTGGCGCTTTCCTGCAGGGCATGGGCCTTGGCCTCTCCAGCGTCTTTGCTCTGTGCCTGGGCCACACCTCCAGCTTCTGTGAGTCTGTGGTCTTTGCATCAGCCTCCATCGGCCTCCAGACCTTCAACCACAGGTGAGGGCCGACTGCTCCATCCACCAGAGCGCCGTGCTGCCCGCACGGCCGAGGCCCGCACATGTGAAGAGGGAGCTCTGTCCGCCTCTCTCAGTCTCTTCCTCACACTTCACCCCCTTCCCAAGCTGCTGGGCAGTGACTGCACTGAAGACCCAGTAGTTCTTTAGGAACCAGCAATTCACTTCAGTGAGCAGCACGTGCGCGTGATTTGTGCGAACATGCTTTCCCCACAGCACTTTACTCTAAGGAGTCGCTTCCTGCACTGGGTCCTCCATGAAGACGGGCAGCTGGGGCTCGGGTTGGCATGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGGTTGGCGTGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGGTTGGCATGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGGTTGGCGTGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGGTTGGCATGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGGTTGGCGTGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGGTTGGCGTGGTGTGCAGGGCTGCAGTGCTCTGGCCAGGGAGCAGGCCTGAGCGTGTCCCAGCCCCTCCCGTGGCTCCACGAGACCTTGCTTCCCCGCTTCCCCTGTGACAACCCTGGGCCACCAGCTCGGTGGTGGCCAGGGCCACTCACCACCCTCTTTCCTCCCCACAGTGGCATTTCTGTTAACATCCAGGACTTGGCCCCGTCCTGCGCCGGCTTTCTGTTTGGTGAGGACCTTGCCTTACCCCAGCTTTGCCCCTCCCTGGGCCTCCGGGTGGGTGAGCCATGGGGGATCCCGGAGGGCTTTTGCTGACCATCCATATTCTCTCTCGCTCTGGCCTCTTCACAGGTGTGGCCAACACAGCCGGGGCCTTGGCAGGTGAGGGGCGGGCCTCTGTGCCCAGGAGTTCCCCTGTCTGTGGGGTTTGAGGCCACCGAGGTGCTGCAGGGTGGGGTTGTGCCTCCCTTCAGAGGGGGTCCGGGTGTCAGAGGAGGGCACAGACCCCAGAGCAGGCCCAGGAGAGGAGGATGGGGCTGCCTTCCAGGTTCCACTGGACTTTGCTGACGGCAGGTGGCTCATGAGTCGCCATCTGCCCTGACTCACAGATATGTTCCCATCCTGGTAGCCCAGGGTCCCCGGGACACCTCCTGGCCCCGCTGAGTGCCATGGATGATGGGGGTCCTTCTTCAGCTCAGCCTCGCCTGGGCCGGCCTGTGGCTCCCATTTTCCTTTCAGCGGGACAAAGGGGACTTGTTACCAGGCCATTTTCTGGATGGCCTGTGAGATCTCTGCCCCTCCAAGACCCTCCAAGTCTGAGCCTGACCCACAGCTGGGACACTGAATTCA
Task1_train_28025
Given this variant in gene CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy
GGGGCAGGCACCAGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGGAAACAGGGAAGCTACCTGGTGCTGGGGTCAGGCAAAGCTGGCTCAGCCCCAGCCTCTCCTGCATGGAATGGGTAGGAGACTGCACAGCCACGGGTAACACGGACATGGCTGCCACTTAGCAGAAACTGTGGCTCCTGGGGCCTCTGTGCGGCCAGTGCCTGGCGCTGGAGGGTGAGGGTAGGTGGGCTGGCCCCGGGCCCCGGGGGGCCTTAGCCGTGGGACCAGCGTTCTGCCCCCAGCCCCTGGCTCTCCCACCTGTCCCCAGCTTGGCCGTGTGGGGCTGATGGTCTTGGAGCTGTGTCCCTGTCCCAGCTCCGTCCTCCTGCCACCAGCCCATCCCATCCCATCTTCTCTGAGCCCCCTACATCCAGGCCCCAGATACGGAGGGGCCCCGGGGAGGCCCGCGGGGCAGGCACAGGCGCACTCTGGAGAAAGGGCCTTGGCAGTGCCTCGTTGCGTTCTGGGGACTTGGCCATTGCTGGGCAGGAGTTCCCAGAGCGCCCCCGTTCTGTGCTGGAAGGACGCTGCCTGTGGCCCCTCACCGTGCCGTCCGCCGAGGCCCACTGTGTCCCAAAGCCAGAGACGGCACCGGGATCCACCCTGTGCCAGCCACTCGGGGCCCCCTGCCCCGCTCAGCCTGGGACCTGCGGCCACATAGCAGGCTTGGGAAGAGGCTGCTGCAGCAGGGGCCACGCCCTGCACCCCAAAGCGAAGCAGCCTGAGGCCTGGGCCCGGCTCCTGGATTACACACCAGGAAGAAAGGGCGTCCGCCGGTTCCGTCTGGGTCAGAGGCGCCCAACACAGCCATGGGCGGGACTTACCGAGAAGTCTGTGTCTTCGGCCTTCAGGTGGTCTGCAATGTACTGGACGCCCTCCACCGCCCGGGTCAGGGCCGGCGACAGGGGCAGGTGCGGGGGCGGCGCTTTGGTGCTGCGGGTCTTGACCGTGGCGCTCGGGGACACCGAAGAGGGCTCCTTCTTGCATGTGCATTTGCACGGAGAGGGCTGGTCTGGGGGTGGGAGCTCAGCCGAGTGGGTGTTGCGAGAGGCCAGGGCGCCGGCAGCCTGGCCATCTGCCTCGGGGGCGGCATCGTCTCGGGGAACACAGTACTGGATGCTCCGAGACCGGCACCGGACGCCGCCTTCCACCGCTTCGCCAGGGCTGGACATGTGCTGGACGCTGAGGGACCTGGCTTTGGCCAGCCCTGGTGCCTGGGTGCCGTGGGGCGGGCGGCAGGGTCCAGGCGAGGGGTGGGGGCTGGCTTTCTCAGCTTCCAGGGGCTGCTGAGGAGGGAGCTGGTCGGAGGGTGACTTGCAGGAAGGCCCAGGCTCAGCCGGCACATCCAGGGGGACACAGAAGGACGGTGAGGGCGGGTGCAGGCTCTGGGTGCCGCTCGTGGCAGGGGGCTCCCCTTCTGGCTCGGGCCAGAAGCGCGGGGCACTGGCCATCTTATGCATGGACTCGATGAGCCGCCGGCAATTGTCCTTGACCACGGACGGCCGCTTCATGAGGAGCAGGCGTGGCACGATGTCCAGGAAGACCCTGCGTACCCAGGTGGGCATGGTGTGCGTGCGTGGCGAGCGGTGGTGCACGTTGAGCACGAAGACCGTGATGACGATGGACAGGGTGACGAAGATCATGGTGAACAGCAGGTACTCGCCGATGAGTGGGATGACCAGTGAGGTGGACGGGATGATCTCGGTGATGAGCAGCAGGAAGACGGTGAGCGACAGCAGCACGGAGATGCACAGCGTGATCTTCTCGCCACACTCGGAGGGCAGGTAGAAGACCAGCACGGTGAGGCAGGAGATGAGCAGGCAGGGGATGATGAGGTTGATGGTGTAGAAGAGCGGCAGCCGCCGGATGACGAAGGCATAGGTGATGTCCGGGTAGATCTCGGCACAGCACTCGTACTTCCTGGTGTTGTAGGTGCCCACGGCATCCACGATGACCCACTCGCCACTCTCCCAGAAGTCCAGCTGGTCCACGCGGCTGTGCATGTTCACCAGGTCGATCTTGGCCTTGTCGTAGGTCCAGGAGCCGAATTTCATGGTGCAGTTCTGCTGGTCGAAGGGGAAGAAGGTGACGTCGATGCTGCAGGAGCTCTTGTAAATGGCCGGGGGAGTCCACTGCACCCGCCCGTCATGGAACAGGTGGGCCTTGGTCAGGTGGGTGACCGCGAAGTCCCCGTCAGCACTGGGCAGGAAGAGAGCGAAGGGTGTGAGACCCCCACATCCATGCCCACGTCCACACCCACGCCCACTGCCACACCCATGCCCACGTCCACACCCACACCCACATCCACGCCCACATCCACGTCCACGCCCACATCCACGTCCACGCCCACATCCATGTCCCACGCCCACATCCACACCCACGTCCACGTCCACGCCCACATCCACACCCACGTCCACGTCCACGTCCACGTCCACACACAGAGGCATTCTCACGTCACAGGAGCACAAAAGGGCTGGCGGCCTTGCCCGGGTACACTGTTCGTCTTCTCACCTACTCGTGCACCTCAGTTTATCATCCCTGAGCTGGGCGTAGCACGTGGTTCAGAGAACGGGAAGGGACCTACGAGTGCCTGACACACATAATCACTGCTGCTGGTGATTACCCTTATCCATGAGTGGCGCATGGATGGGGCTAGTCTCCCAGCGTCACCTCCTGGGACACACGGCATCCCTATGTCCCCGCCCCTCCAAGCAGCACCCCGGGCCACCATGGGAATTCCTCACCCAGCTTCTGCCGTTAACCCCAAGGACTTGGAGGCCACCTCCCAGTGTGTGAGCATGAGGACACCAGGGGCCACAGAGGCAAGGACAGGTGTTCTGGCCACCCAGGGCCAATGCAGTGGGGCTGCATACGCACTGCCCAGTTCCAGGGCCACGTCTGAGCCACTGGCTCTGGACTCTCTTTTGCCTTGGGGGACGTGGGTGTTCTGTCCACAGGCCCAGGTGGGCAACAGAGCAATGGAGCGAGGGGCTGATGTCCCTTGAACTCCTCCCGGTAGGCAGAGCTCCCAGCCCCAGCCCCTGGTTCCATAGACAGCGGCTGGCTGGGTGGGACGCACTGCAGGAGCACATTCAGGGCTGAGGCAGCCAGGCTCACGGGGGCAGCAGCCGACCCTCCACCCCCACCCACAGAAGTCCCCACCAATGGGAAGCCTGAGGCCCCATTAAATCCCCAGCGTTGGCAGGCATGGGGCCAGGCTCAGCTCTGTGGAGGGCGCTGGGGCACGACGCGTCGGGGGGAGCGGCTGCCCAGCCACACACCTCCTGCTCCACCTCTGCCAAGCTGCCTGGACCCCTGCCCATCCCTCCTCTGCCTCATTCCCTGAGAGCCTGCTCAAAGGCCAGGGCCTCTCCAGGTACTTGGGCAGAGCTGGCGACTGTTCCCTGAGCTTCCTCTGTGCCTGCCCCCGAGTCCCAGGGCTGGACCTGCACCTCAACCTCCCTCCCAACCCTCAGGGACCCTCCCTTTGTGGAGCCGCCACTGCTGGAGCTCTGCCCTCCAGGTCGTGGAGACCTGGCCCCCCACGGTCTCAGTCGGTGCTGAGCCTCTGCCCCCCTGAACTGGTCCTGAGCCAACACCGCCGGCTGGGCTGCCGCTCAGCTGCAGAGGGAGGGAGACCCAGCAAGAGCCACCAGCTGCATCTCAATGCGGCTCCGGCCCAGCACAGCCTGGCTCCCGAGCGTCCCTCCAGCGGGGGGCGGGGCTTTACCACCAAGTCAGTCTGGGTGGAATCAGGCTCAAGTTTGCTCCCTCTCCCC
GGGGCAGGCACCAGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGGAAACAGGGAAGCTACCTGGTGCTGGGGTCAGGCAAAGCTGGCTCAGCCCCAGCCTCTCCTGCATGGAATGGGTAGGAGACTGCACAGCCACGGGTAACACGGACATGGCTGCCACTTAGCAGAAACTGTGGCTCCTGGGGCCTCTGTGCGGCCAGTGCCTGGCGCTGGAGGGTGAGGGTAGGTGGGCTGGCCCCGGGCCCCGGGGGGCCTTAGCCGTGGGACCAGCGTTCTGCCCCCAGCCCCTGGCTCTCCCACCTGTCCCCAGCTTGGCCGTGTGGGGCTGATGGTCTTGGAGCTGTGTCCCTGTCCCAGCTCCGTCCTCCTGCCACCAGCCCATCCCATCCCATCTTCTCTGAGCCCCCTACATCCAGGCCCCAGATACGGAGGGGCCCCGGGGAGGCCCGCGGGGCAGGCACAGGCGCACTCTGGAGAAAGGGCCTTGGCAGTGCCTCGTTGCGTTCTGGGGACTTGGCCATTGCTGGGCAGGAGTTCCCAGAGCGCCCCCGTTCTGTGCTGGAAGGACGCTGCCTGTGGCCCCTCACCGTGCCGTCCGCCGAGGCCCACTGTGTCCCAAAGCCAGAGACGGCACCGGGATCCACCCTGTGCCAGCCACTCGGGGCCCCCTGCCCCGCTCAGCCTGGGACCTGCGGCCACATAGCAGGCTTGGGAAGAGGCTGCTGCAGCAGGGGCCACGCCCTGCACCCCAAAGCGAAGCAGCCTGAGGCCTGGGCCCGGCTCCTGGATTACACACCAGGAAGAAAGGGCGTCCGCCGGTTCCGTCTGGGTCAGAGGCGCCCAACACAGCCATGGGCGGGACTTACCGAGAAGTCTGTGTCTTCGGCCTTCAGGTGGTCTGCAATGTACTGGACGCCCTCCACCGCCCGGGTCAGGGCCGGCGACAGGGGCAGGTGCGGGGGCGGCGCTTTGGTGCTGCGGGTCTTGACCGTGGCGCTCGGGGACACCGAAGAGGGCTCCTTCTTGCATGTGCATTTGCACGGAGAGGGCTGGTCTGGGGGTGGGAGCTCAGCCGAGTGGGTGTTGCGAGAGGCCAGGGCGCCGGCAGCCTGGCCATCTGCCTCGGGGGCGGCATCGTCTCGGGGAACACAGTACTGGATGCTCCGAGACCGGCACCGGACGCCGCCTTCCACCGCTTCGCCAGGGCTGGACATGTGCTGGACGCTGAGGGACCTGGCTTTGGCCAGCCCTGGTGCCTGGGTGCCGTGGGGCGGGCGGCAGGGTCCAGGCGAGGGGTGGGGGCTGGCTTTCTCAGCTTCCAGGGGCTGCTGAGGAGGGAGCTGGTCGGAGGGTGACTTGCAGGAAGGCCCAGGCTCAGCCGGCACATCCAGGGGGACACAGAAGGACGGTGAGGGCGGGTGCAGGCTCTGGGTGCCGCTCGTGGCAGGGGGCTCCCCTTCTGGCTCGGGCCAGAAGCGCGGGGCACTGGCCATCTTATGCATGGACTCGATGAGCCGCCGGCAATTGTCCTTGACCACGGACGGCCGCTTCATGAGGAGCAGGCGTGGCACGATGTCCAGGAAGACCCTGCGTACCCAGGTGGGCATGGTGTGCGTGCGTGGCGAGCGGTGGTGCACGTTGAGCACGAAGACCGTGATGACGATGGACAGGGTGACGAAGATCATGGTGAACAGCAGGTACTCGCCGATGAGTGGGATGACCAGTGAGGTGGACGGGATGATCTCGGTGATGAGCAGCAGGAAGACGGTGAGCAACAGCAGCACGGAGATGCACAGCGTGATCTTCTCGCCACACTCGGAGGGCAGGTAGAAGACCAGCACGGTGAGGCAGGAGATGAGCAGGCAGGGGATGATGAGGTTGATGGTGTAGAAGAGCGGCAGCCGCCGGATGACGAAGGCATAGGTGATGTCCGGGTAGATCTCGGCACAGCACTCGTACTTCCTGGTGTTGTAGGTGCCCACGGCATCCACGATGACCCACTCGCCACTCTCCCAGAAGTCCAGCTGGTCCACGCGGCTGTGCATGTTCACCAGGTCGATCTTGGCCTTGTCGTAGGTCCAGGAGCCGAATTTCATGGTGCAGTTCTGCTGGTCGAAGGGGAAGAAGGTGACGTCGATGCTGCAGGAGCTCTTGTAAATGGCCGGGGGAGTCCACTGCACCCGCCCGTCATGGAACAGGTGGGCCTTGGTCAGGTGGGTGACCGCGAAGTCCCCGTCAGCACTGGGCAGGAAGAGAGCGAAGGGTGTGAGACCCCCACATCCATGCCCACGTCCACACCCACGCCCACTGCCACACCCATGCCCACGTCCACACCCACACCCACATCCACGCCCACATCCACGTCCACGCCCACATCCACGTCCACGCCCACATCCATGTCCCACGCCCACATCCACACCCACGTCCACGTCCACGCCCACATCCACACCCACGTCCACGTCCACGTCCACGTCCACACACAGAGGCATTCTCACGTCACAGGAGCACAAAAGGGCTGGCGGCCTTGCCCGGGTACACTGTTCGTCTTCTCACCTACTCGTGCACCTCAGTTTATCATCCCTGAGCTGGGCGTAGCACGTGGTTCAGAGAACGGGAAGGGACCTACGAGTGCCTGACACACATAATCACTGCTGCTGGTGATTACCCTTATCCATGAGTGGCGCATGGATGGGGCTAGTCTCCCAGCGTCACCTCCTGGGACACACGGCATCCCTATGTCCCCGCCCCTCCAAGCAGCACCCCGGGCCACCATGGGAATTCCTCACCCAGCTTCTGCCGTTAACCCCAAGGACTTGGAGGCCACCTCCCAGTGTGTGAGCATGAGGACACCAGGGGCCACAGAGGCAAGGACAGGTGTTCTGGCCACCCAGGGCCAATGCAGTGGGGCTGCATACGCACTGCCCAGTTCCAGGGCCACGTCTGAGCCACTGGCTCTGGACTCTCTTTTGCCTTGGGGGACGTGGGTGTTCTGTCCACAGGCCCAGGTGGGCAACAGAGCAATGGAGCGAGGGGCTGATGTCCCTTGAACTCCTCCCGGTAGGCAGAGCTCCCAGCCCCAGCCCCTGGTTCCATAGACAGCGGCTGGCTGGGTGGGACGCACTGCAGGAGCACATTCAGGGCTGAGGCAGCCAGGCTCACGGGGGCAGCAGCCGACCCTCCACCCCCACCCACAGAAGTCCCCACCAATGGGAAGCCTGAGGCCCCATTAAATCCCCAGCGTTGGCAGGCATGGGGCCAGGCTCAGCTCTGTGGAGGGCGCTGGGGCACGACGCGTCGGGGGGAGCGGCTGCCCAGCCACACACCTCCTGCTCCACCTCTGCCAAGCTGCCTGGACCCCTGCCCATCCCTCCTCTGCCTCATTCCCTGAGAGCCTGCTCAAAGGCCAGGGCCTCTCCAGGTACTTGGGCAGAGCTGGCGACTGTTCCCTGAGCTTCCTCTGTGCCTGCCCCCGAGTCCCAGGGCTGGACCTGCACCTCAACCTCCCTCCCAACCCTCAGGGACCCTCCCTTTGTGGAGCCGCCACTGCTGGAGCTCTGCCCTCCAGGTCGTGGAGACCTGGCCCCCCACGGTCTCAGTCGGTGCTGAGCCTCTGCCCCCCTGAACTGGTCCTGAGCCAACACCGCCGGCTGGGCTGCCGCTCAGCTGCAGAGGGAGGGAGACCCAGCAAGAGCCACCAGCTGCATCTCAATGCGGCTCCGGCCCAGCACAGCCTGGCTCCCGAGCGTCCCTCCAGCGGGGGGCGGGGCTTTACCACCAAGTCAGTCTGGGTGGAATCAGGCTCAAGTTTGCTCCCTCTCCCC
Task1_train_28026
The gene CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 1
GGGGCAGGCACCAGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGGAAACAGGGAAGCTACCTGGTGCTGGGGTCAGGCAAAGCTGGCTCAGCCCCAGCCTCTCCTGCATGGAATGGGTAGGAGACTGCACAGCCACGGGTAACACGGACATGGCTGCCACTTAGCAGAAACTGTGGCTCCTGGGGCCTCTGTGCGGCCAGTGCCTGGCGCTGGAGGGTGAGGGTAGGTGGGCTGGCCCCGGGCCCCGGGGGGCCTTAGCCGTGGGACCAGCGTTCTGCCCCCAGCCCCTGGCTCTCCCACCTGTCCCCAGCTTGGCCGTGTGGGGCTGATGGTCTTGGAGCTGTGTCCCTGTCCCAGCTCCGTCCTCCTGCCACCAGCCCATCCCATCCCATCTTCTCTGAGCCCCCTACATCCAGGCCCCAGATACGGAGGGGCCCCGGGGAGGCCCGCGGGGCAGGCACAGGCGCACTCTGGAGAAAGGGCCTTGGCAGTGCCTCGTTGCGTTCTGGGGACTTGGCCATTGCTGGGCAGGAGTTCCCAGAGCGCCCCCGTTCTGTGCTGGAAGGACGCTGCCTGTGGCCCCTCACCGTGCCGTCCGCCGAGGCCCACTGTGTCCCAAAGCCAGAGACGGCACCGGGATCCACCCTGTGCCAGCCACTCGGGGCCCCCTGCCCCGCTCAGCCTGGGACCTGCGGCCACATAGCAGGCTTGGGAAGAGGCTGCTGCAGCAGGGGCCACGCCCTGCACCCCAAAGCGAAGCAGCCTGAGGCCTGGGCCCGGCTCCTGGATTACACACCAGGAAGAAAGGGCGTCCGCCGGTTCCGTCTGGGTCAGAGGCGCCCAACACAGCCATGGGCGGGACTTACCGAGAAGTCTGTGTCTTCGGCCTTCAGGTGGTCTGCAATGTACTGGACGCCCTCCACCGCCCGGGTCAGGGCCGGCGACAGGGGCAGGTGCGGGGGCGGCGCTTTGGTGCTGCGGGTCTTGACCGTGGCGCTCGGGGACACCGAAGAGGGCTCCTTCTTGCATGTGCATTTGCACGGAGAGGGCTGGTCTGGGGGTGGGAGCTCAGCCGAGTGGGTGTTGCGAGAGGCCAGGGCGCCGGCAGCCTGGCCATCTGCCTCGGGGGCGGCATCGTCTCGGGGAACACAGTACTGGATGCTCCGAGACCGGCACCGGACGCCGCCTTCCACCGCTTCGCCAGGGCTGGACATGTGCTGGACGCTGAGGGACCTGGCTTTGGCCAGCCCTGGTGCCTGGGTGCCGTGGGGCGGGCGGCAGGGTCCAGGCGAGGGGTGGGGGCTGGCTTTCTCAGCTTCCAGGGGCTGCTGAGGAGGGAGCTGGTCGGAGGGTGACTTGCAGGAAGGCCCAGGCTCAGCCGGCACATCCAGGGGGACACAGAAGGACGGTGAGGGCGGGTGCAGGCTCTGGGTGCCGCTCGTGGCAGGGGGCTCCCCTTCTGGCTCGGGCCAGAAGCGCGGGGCACTGGCCATCTTATGCATGGACTCGATGAGCCGCCGGCAATTGTCCTTGACCACGGACGGCCGCTTCATGAGGAGCAGGCGTGGCACGATGTCCAGGAAGACCCTGCGTACCCAGGTGGGCATGGTGTGCGTGCGTGGCGAGCGGTGGTGCACGTTGAGCACGAAGACCGTGATGACGATGGACAGGGTGACGAAGATCATGGTGAACAGCAGGTACTCGCCGATGAGTGGGATGACCAGTGAGGTGGACGGGATGATCTCGGTGATGAGCAGCAGGAAGACGGTGAGCGACAGCAGCACGGAGATGCACAGCGTGATCTTCTCGCCACACTCGGAGGGCAGGTAGAAGACCAGCACGGTGAGGCAGGAGATGAGCAGGCAGGGGATGATGAGGTTGATGGTGTAGAAGAGCGGCAGCCGCCGGATGACGAAGGCATAGGTGATGTCCGGGTAGATCTCGGCACAGCACTCGTACTTCCTGGTGTTGTAGGTGCCCACGGCATCCACGATGACCCACTCGCCACTCTCCCAGAAGTCCAGCTGGTCCACGCGGCTGTGCATGTTCACCAGGTCGATCTTGGCCTTGTCGTAGGTCCAGGAGCCGAATTTCATGGTGCAGTTCTGCTGGTCGAAGGGGAAGAAGGTGACGTCGATGCTGCAGGAGCTCTTGTAAATGGCCGGGGGAGTCCACTGCACCCGCCCGTCATGGAACAGGTGGGCCTTGGTCAGGTGGGTGACCGCGAAGTCCCCGTCAGCACTGGGCAGGAAGAGAGCGAAGGGTGTGAGACCCCCACATCCATGCCCACGTCCACACCCACGCCCACTGCCACACCCATGCCCACGTCCACACCCACACCCACATCCACGCCCACATCCACGTCCACGCCCACATCCACGTCCACGCCCACATCCATGTCCCACGCCCACATCCACACCCACGTCCACGTCCACGCCCACATCCACACCCACGTCCACGTCCACGTCCACGTCCACACACAGAGGCATTCTCACGTCACAGGAGCACAAAAGGGCTGGCGGCCTTGCCCGGGTACACTGTTCGTCTTCTCACCTACTCGTGCACCTCAGTTTATCATCCCTGAGCTGGGCGTAGCACGTGGTTCAGAGAACGGGAAGGGACCTACGAGTGCCTGACACACATAATCACTGCTGCTGGTGATTACCCTTATCCATGAGTGGCGCATGGATGGGGCTAGTCTCCCAGCGTCACCTCCTGGGACACACGGCATCCCTATGTCCCCGCCCCTCCAAGCAGCACCCCGGGCCACCATGGGAATTCCTCACCCAGCTTCTGCCGTTAACCCCAAGGACTTGGAGGCCACCTCCCAGTGTGTGAGCATGAGGACACCAGGGGCCACAGAGGCAAGGACAGGTGTTCTGGCCACCCAGGGCCAATGCAGTGGGGCTGCATACGCACTGCCCAGTTCCAGGGCCACGTCTGAGCCACTGGCTCTGGACTCTCTTTTGCCTTGGGGGACGTGGGTGTTCTGTCCACAGGCCCAGGTGGGCAACAGAGCAATGGAGCGAGGGGCTGATGTCCCTTGAACTCCTCCCGGTAGGCAGAGCTCCCAGCCCCAGCCCCTGGTTCCATAGACAGCGGCTGGCTGGGTGGGACGCACTGCAGGAGCACATTCAGGGCTGAGGCAGCCAGGCTCACGGGGGCAGCAGCCGACCCTCCACCCCCACCCACAGAAGTCCCCACCAATGGGAAGCCTGAGGCCCCATTAAATCCCCAGCGTTGGCAGGCATGGGGCCAGGCTCAGCTCTGTGGAGGGCGCTGGGGCACGACGCGTCGGGGGGAGCGGCTGCCCAGCCACACACCTCCTGCTCCACCTCTGCCAAGCTGCCTGGACCCCTGCCCATCCCTCCTCTGCCTCATTCCCTGAGAGCCTGCTCAAAGGCCAGGGCCTCTCCAGGTACTTGGGCAGAGCTGGCGACTGTTCCCTGAGCTTCCTCTGTGCCTGCCCCCGAGTCCCAGGGCTGGACCTGCACCTCAACCTCCCTCCCAACCCTCAGGGACCCTCCCTTTGTGGAGCCGCCACTGCTGGAGCTCTGCCCTCCAGGTCGTGGAGACCTGGCCCCCCACGGTCTCAGTCGGTGCTGAGCCTCTGCCCCCCTGAACTGGTCCTGAGCCAACACCGCCGGCTGGGCTGCCGCTCAGCTGCAGAGGGAGGGAGACCCAGCAAGAGCCACCAGCTGCATCTCAATGCGGCTCCGGCCCAGCACAGCCTGGCTCCCGAGCGTCCCTCCAGCGGGGGGCGGGGCTTTACCACCAAGTCAGTCTGGGTGGAATCAGGCTCAAGTTTGCTCCCTCTCCCC
GGGGCAGGCACCAGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGGAAACAGGGAAGCTACCTGGTGCTGGGGTCAGGCAAAGCTGGCTCAGCCCCAGCCTCTCCTGCATGGAATGGGTAGGAGACTGCACAGCCACGGGTAACACGGACATGGCTGCCACTTAGCAGAAACTGTGGCTCCTGGGGCCTCTGTGCGGCCAGTGCCTGGCGCTGGAGGGTGAGGGTAGGTGGGCTGGCCCCGGGCCCCGGGGGGCCTTAGCCGTGGGACCAGCGTTCTGCCCCCAGCCCCTGGCTCTCCCACCTGTCCCCAGCTTGGCCGTGTGGGGCTGATGGTCTTGGAGCTGTGTCCCTGTCCCAGCTCCGTCCTCCTGCCACCAGCCCATCCCATCCCATCTTCTCTGAGCCCCCTACATCCAGGCCCCAGATACGGAGGGGCCCCGGGGAGGCCCGCGGGGCAGGCACAGGCGCACTCTGGAGAAAGGGCCTTGGCAGTGCCTCGTTGCGTTCTGGGGACTTGGCCATTGCTGGGCAGGAGTTCCCAGAGCGCCCCCGTTCTGTGCTGGAAGGACGCTGCCTGTGGCCCCTCACCGTGCCGTCCGCCGAGGCCCACTGTGTCCCAAAGCCAGAGACGGCACCGGGATCCACCCTGTGCCAGCCACTCGGGGCCCCCTGCCCCGCTCAGCCTGGGACCTGCGGCCACATAGCAGGCTTGGGAAGAGGCTGCTGCAGCAGGGGCCACGCCCTGCACCCCAAAGCGAAGCAGCCTGAGGCCTGGGCCCGGCTCCTGGATTACACACCAGGAAGAAAGGGCGTCCGCCGGTTCCGTCTGGGTCAGAGGCGCCCAACACAGCCATGGGCGGGACTTACCGAGAAGTCTGTGTCTTCGGCCTTCAGGTGGTCTGCAATGTACTGGACGCCCTCCACCGCCCGGGTCAGGGCCGGCGACAGGGGCAGGTGCGGGGGCGGCGCTTTGGTGCTGCGGGTCTTGACCGTGGCGCTCGGGGACACCGAAGAGGGCTCCTTCTTGCATGTGCATTTGCACGGAGAGGGCTGGTCTGGGGGTGGGAGCTCAGCCGAGTGGGTGTTGCGAGAGGCCAGGGCGCCGGCAGCCTGGCCATCTGCCTCGGGGGCGGCATCGTCTCGGGGAACACAGTACTGGATGCTCCGAGACCGGCACCGGACGCCGCCTTCCACCGCTTCGCCAGGGCTGGACATGTGCTGGACGCTGAGGGACCTGGCTTTGGCCAGCCCTGGTGCCTGGGTGCCGTGGGGCGGGCGGCAGGGTCCAGGCGAGGGGTGGGGGCTGGCTTTCTCAGCTTCCAGGGGCTGCTGAGGAGGGAGCTGGTCGGAGGGTGACTTGCAGGAAGGCCCAGGCTCAGCCGGCACATCCAGGGGGACACAGAAGGACGGTGAGGGCGGGTGCAGGCTCTGGGTGCCGCTCGTGGCAGGGGGCTCCCCTTCTGGCTCGGGCCAGAAGCGCGGGGCACTGGCCATCTTATGCATGGACTCGATGAGCCGCCGGCAATTGTCCTTGACCACGGACGGCCGCTTCATGAGGAGCAGGCGTGGCACGATGTCCAGGAAGACCCTGCGTACCCAGGTGGGCATGGTGTGCGTGCGTGGCGAGCGGTGGTGCACGTTGAGCACGAAGACCGTGATGACGATGGACAGGGTGACGAAGATCATGGTGAACAGCAGGTACTCGCCGATGAGTGGGATGACCAGTGAGGTGGACGGGATGATCTCGGTGATGAGCAGCAGGAAGACGGTGAGCAACAGCAGCACGGAGATGCACAGCGTGATCTTCTCGCCACACTCGGAGGGCAGGTAGAAGACCAGCACGGTGAGGCAGGAGATGAGCAGGCAGGGGATGATGAGGTTGATGGTGTAGAAGAGCGGCAGCCGCCGGATGACGAAGGCATAGGTGATGTCCGGGTAGATCTCGGCACAGCACTCGTACTTCCTGGTGTTGTAGGTGCCCACGGCATCCACGATGACCCACTCGCCACTCTCCCAGAAGTCCAGCTGGTCCACGCGGCTGTGCATGTTCACCAGGTCGATCTTGGCCTTGTCGTAGGTCCAGGAGCCGAATTTCATGGTGCAGTTCTGCTGGTCGAAGGGGAAGAAGGTGACGTCGATGCTGCAGGAGCTCTTGTAAATGGCCGGGGGAGTCCACTGCACCCGCCCGTCATGGAACAGGTGGGCCTTGGTCAGGTGGGTGACCGCGAAGTCCCCGTCAGCACTGGGCAGGAAGAGAGCGAAGGGTGTGAGACCCCCACATCCATGCCCACGTCCACACCCACGCCCACTGCCACACCCATGCCCACGTCCACACCCACACCCACATCCACGCCCACATCCACGTCCACGCCCACATCCACGTCCACGCCCACATCCATGTCCCACGCCCACATCCACACCCACGTCCACGTCCACGCCCACATCCACACCCACGTCCACGTCCACGTCCACGTCCACACACAGAGGCATTCTCACGTCACAGGAGCACAAAAGGGCTGGCGGCCTTGCCCGGGTACACTGTTCGTCTTCTCACCTACTCGTGCACCTCAGTTTATCATCCCTGAGCTGGGCGTAGCACGTGGTTCAGAGAACGGGAAGGGACCTACGAGTGCCTGACACACATAATCACTGCTGCTGGTGATTACCCTTATCCATGAGTGGCGCATGGATGGGGCTAGTCTCCCAGCGTCACCTCCTGGGACACACGGCATCCCTATGTCCCCGCCCCTCCAAGCAGCACCCCGGGCCACCATGGGAATTCCTCACCCAGCTTCTGCCGTTAACCCCAAGGACTTGGAGGCCACCTCCCAGTGTGTGAGCATGAGGACACCAGGGGCCACAGAGGCAAGGACAGGTGTTCTGGCCACCCAGGGCCAATGCAGTGGGGCTGCATACGCACTGCCCAGTTCCAGGGCCACGTCTGAGCCACTGGCTCTGGACTCTCTTTTGCCTTGGGGGACGTGGGTGTTCTGTCCACAGGCCCAGGTGGGCAACAGAGCAATGGAGCGAGGGGCTGATGTCCCTTGAACTCCTCCCGGTAGGCAGAGCTCCCAGCCCCAGCCCCTGGTTCCATAGACAGCGGCTGGCTGGGTGGGACGCACTGCAGGAGCACATTCAGGGCTGAGGCAGCCAGGCTCACGGGGGCAGCAGCCGACCCTCCACCCCCACCCACAGAAGTCCCCACCAATGGGAAGCCTGAGGCCCCATTAAATCCCCAGCGTTGGCAGGCATGGGGCCAGGCTCAGCTCTGTGGAGGGCGCTGGGGCACGACGCGTCGGGGGGAGCGGCTGCCCAGCCACACACCTCCTGCTCCACCTCTGCCAAGCTGCCTGGACCCCTGCCCATCCCTCCTCTGCCTCATTCCCTGAGAGCCTGCTCAAAGGCCAGGGCCTCTCCAGGTACTTGGGCAGAGCTGGCGACTGTTCCCTGAGCTTCCTCTGTGCCTGCCCCCGAGTCCCAGGGCTGGACCTGCACCTCAACCTCCCTCCCAACCCTCAGGGACCCTCCCTTTGTGGAGCCGCCACTGCTGGAGCTCTGCCCTCCAGGTCGTGGAGACCTGGCCCCCCACGGTCTCAGTCGGTGCTGAGCCTCTGCCCCCCTGAACTGGTCCTGAGCCAACACCGCCGGCTGGGCTGCCGCTCAGCTGCAGAGGGAGGGAGACCCAGCAAGAGCCACCAGCTGCATCTCAATGCGGCTCCGGCCCAGCACAGCCTGGCTCCCGAGCGTCCCTCCAGCGGGGGGCGGGGCTTTACCACCAAGTCAGTCTGGGTGGAATCAGGCTCAAGTTTGCTCCCTCTCCCC
Task1_train_28027
With a mutation on Chromosome 20 in gene CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Inborn genetic diseases
GGGGCAGGCACCAGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGGAAACAGGGAAGCTACCTGGTGCTGGGGTCAGGCAAAGCTGGCTCAGCCCCAGCCTCTCCTGCATGGAATGGGTAGGAGACTGCACAGCCACGGGTAACACGGACATGGCTGCCACTTAGCAGAAACTGTGGCTCCTGGGGCCTCTGTGCGGCCAGTGCCTGGCGCTGGAGGGTGAGGGTAGGTGGGCTGGCCCCGGGCCCCGGGGGGCCTTAGCCGTGGGACCAGCGTTCTGCCCCCAGCCCCTGGCTCTCCCACCTGTCCCCAGCTTGGCCGTGTGGGGCTGATGGTCTTGGAGCTGTGTCCCTGTCCCAGCTCCGTCCTCCTGCCACCAGCCCATCCCATCCCATCTTCTCTGAGCCCCCTACATCCAGGCCCCAGATACGGAGGGGCCCCGGGGAGGCCCGCGGGGCAGGCACAGGCGCACTCTGGAGAAAGGGCCTTGGCAGTGCCTCGTTGCGTTCTGGGGACTTGGCCATTGCTGGGCAGGAGTTCCCAGAGCGCCCCCGTTCTGTGCTGGAAGGACGCTGCCTGTGGCCCCTCACCGTGCCGTCCGCCGAGGCCCACTGTGTCCCAAAGCCAGAGACGGCACCGGGATCCACCCTGTGCCAGCCACTCGGGGCCCCCTGCCCCGCTCAGCCTGGGACCTGCGGCCACATAGCAGGCTTGGGAAGAGGCTGCTGCAGCAGGGGCCACGCCCTGCACCCCAAAGCGAAGCAGCCTGAGGCCTGGGCCCGGCTCCTGGATTACACACCAGGAAGAAAGGGCGTCCGCCGGTTCCGTCTGGGTCAGAGGCGCCCAACACAGCCATGGGCGGGACTTACCGAGAAGTCTGTGTCTTCGGCCTTCAGGTGGTCTGCAATGTACTGGACGCCCTCCACCGCCCGGGTCAGGGCCGGCGACAGGGGCAGGTGCGGGGGCGGCGCTTTGGTGCTGCGGGTCTTGACCGTGGCGCTCGGGGACACCGAAGAGGGCTCCTTCTTGCATGTGCATTTGCACGGAGAGGGCTGGTCTGGGGGTGGGAGCTCAGCCGAGTGGGTGTTGCGAGAGGCCAGGGCGCCGGCAGCCTGGCCATCTGCCTCGGGGGCGGCATCGTCTCGGGGAACACAGTACTGGATGCTCCGAGACCGGCACCGGACGCCGCCTTCCACCGCTTCGCCAGGGCTGGACATGTGCTGGACGCTGAGGGACCTGGCTTTGGCCAGCCCTGGTGCCTGGGTGCCGTGGGGCGGGCGGCAGGGTCCAGGCGAGGGGTGGGGGCTGGCTTTCTCAGCTTCCAGGGGCTGCTGAGGAGGGAGCTGGTCGGAGGGTGACTTGCAGGAAGGCCCAGGCTCAGCCGGCACATCCAGGGGGACACAGAAGGACGGTGAGGGCGGGTGCAGGCTCTGGGTGCCGCTCGTGGCAGGGGGCTCCCCTTCTGGCTCGGGCCAGAAGCGCGGGGCACTGGCCATCTTATGCATGGACTCGATGAGCCGCCGGCAATTGTCCTTGACCACGGACGGCCGCTTCATGAGGAGCAGGCGTGGCACGATGTCCAGGAAGACCCTGCGTACCCAGGTGGGCATGGTGTGCGTGCGTGGCGAGCGGTGGTGCACGTTGAGCACGAAGACCGTGATGACGATGGACAGGGTGACGAAGATCATGGTGAACAGCAGGTACTCGCCGATGAGTGGGATGACCAGTGAGGTGGACGGGATGATCTCGGTGATGAGCAGCAGGAAGACGGTGAGCGACAGCAGCACGGAGATGCACAGCGTGATCTTCTCGCCACACTCGGAGGGCAGGTAGAAGACCAGCACGGTGAGGCAGGAGATGAGCAGGCAGGGGATGATGAGGTTGATGGTGTAGAAGAGCGGCAGCCGCCGGATGACGAAGGCATAGGTGATGTCCGGGTAGATCTCGGCACAGCACTCGTACTTCCTGGTGTTGTAGGTGCCCACGGCATCCACGATGACCCACTCGCCACTCTCCCAGAAGTCCAGCTGGTCCACGCGGCTGTGCATGTTCACCAGGTCGATCTTGGCCTTGTCGTAGGTCCAGGAGCCGAATTTCATGGTGCAGTTCTGCTGGTCGAAGGGGAAGAAGGTGACGTCGATGCTGCAGGAGCTCTTGTAAATGGCCGGGGGAGTCCACTGCACCCGCCCGTCATGGAACAGGTGGGCCTTGGTCAGGTGGGTGACCGCGAAGTCCCCGTCAGCACTGGGCAGGAAGAGAGCGAAGGGTGTGAGACCCCCACATCCATGCCCACGTCCACACCCACGCCCACTGCCACACCCATGCCCACGTCCACACCCACACCCACATCCACGCCCACATCCACGTCCACGCCCACATCCACGTCCACGCCCACATCCATGTCCCACGCCCACATCCACACCCACGTCCACGTCCACGCCCACATCCACACCCACGTCCACGTCCACGTCCACGTCCACACACAGAGGCATTCTCACGTCACAGGAGCACAAAAGGGCTGGCGGCCTTGCCCGGGTACACTGTTCGTCTTCTCACCTACTCGTGCACCTCAGTTTATCATCCCTGAGCTGGGCGTAGCACGTGGTTCAGAGAACGGGAAGGGACCTACGAGTGCCTGACACACATAATCACTGCTGCTGGTGATTACCCTTATCCATGAGTGGCGCATGGATGGGGCTAGTCTCCCAGCGTCACCTCCTGGGACACACGGCATCCCTATGTCCCCGCCCCTCCAAGCAGCACCCCGGGCCACCATGGGAATTCCTCACCCAGCTTCTGCCGTTAACCCCAAGGACTTGGAGGCCACCTCCCAGTGTGTGAGCATGAGGACACCAGGGGCCACAGAGGCAAGGACAGGTGTTCTGGCCACCCAGGGCCAATGCAGTGGGGCTGCATACGCACTGCCCAGTTCCAGGGCCACGTCTGAGCCACTGGCTCTGGACTCTCTTTTGCCTTGGGGGACGTGGGTGTTCTGTCCACAGGCCCAGGTGGGCAACAGAGCAATGGAGCGAGGGGCTGATGTCCCTTGAACTCCTCCCGGTAGGCAGAGCTCCCAGCCCCAGCCCCTGGTTCCATAGACAGCGGCTGGCTGGGTGGGACGCACTGCAGGAGCACATTCAGGGCTGAGGCAGCCAGGCTCACGGGGGCAGCAGCCGACCCTCCACCCCCACCCACAGAAGTCCCCACCAATGGGAAGCCTGAGGCCCCATTAAATCCCCAGCGTTGGCAGGCATGGGGCCAGGCTCAGCTCTGTGGAGGGCGCTGGGGCACGACGCGTCGGGGGGAGCGGCTGCCCAGCCACACACCTCCTGCTCCACCTCTGCCAAGCTGCCTGGACCCCTGCCCATCCCTCCTCTGCCTCATTCCCTGAGAGCCTGCTCAAAGGCCAGGGCCTCTCCAGGTACTTGGGCAGAGCTGGCGACTGTTCCCTGAGCTTCCTCTGTGCCTGCCCCCGAGTCCCAGGGCTGGACCTGCACCTCAACCTCCCTCCCAACCCTCAGGGACCCTCCCTTTGTGGAGCCGCCACTGCTGGAGCTCTGCCCTCCAGGTCGTGGAGACCTGGCCCCCCACGGTCTCAGTCGGTGCTGAGCCTCTGCCCCCCTGAACTGGTCCTGAGCCAACACCGCCGGCTGGGCTGCCGCTCAGCTGCAGAGGGAGGGAGACCCAGCAAGAGCCACCAGCTGCATCTCAATGCGGCTCCGGCCCAGCACAGCCTGGCTCCCGAGCGTCCCTCCAGCGGGGGGCGGGGCTTTACCACCAAGTCAGTCTGGGTGGAATCAGGCTCAAGTTTGCTCCCTCTCCCC
GGGGCAGGCACCAGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGGAAACAGGGAAGCTACCTGGTGCTGGGGTCAGGCAAAGCTGGCTCAGCCCCAGCCTCTCCTGCATGGAATGGGTAGGAGACTGCACAGCCACGGGTAACACGGACATGGCTGCCACTTAGCAGAAACTGTGGCTCCTGGGGCCTCTGTGCGGCCAGTGCCTGGCGCTGGAGGGTGAGGGTAGGTGGGCTGGCCCCGGGCCCCGGGGGGCCTTAGCCGTGGGACCAGCGTTCTGCCCCCAGCCCCTGGCTCTCCCACCTGTCCCCAGCTTGGCCGTGTGGGGCTGATGGTCTTGGAGCTGTGTCCCTGTCCCAGCTCCGTCCTCCTGCCACCAGCCCATCCCATCCCATCTTCTCTGAGCCCCCTACATCCAGGCCCCAGATACGGAGGGGCCCCGGGGAGGCCCGCGGGGCAGGCACAGGCGCACTCTGGAGAAAGGGCCTTGGCAGTGCCTCGTTGCGTTCTGGGGACTTGGCCATTGCTGGGCAGGAGTTCCCAGAGCGCCCCCGTTCTGTGCTGGAAGGACGCTGCCTGTGGCCCCTCACCGTGCCGTCCGCCGAGGCCCACTGTGTCCCAAAGCCAGAGACGGCACCGGGATCCACCCTGTGCCAGCCACTCGGGGCCCCCTGCCCCGCTCAGCCTGGGACCTGCGGCCACATAGCAGGCTTGGGAAGAGGCTGCTGCAGCAGGGGCCACGCCCTGCACCCCAAAGCGAAGCAGCCTGAGGCCTGGGCCCGGCTCCTGGATTACACACCAGGAAGAAAGGGCGTCCGCCGGTTCCGTCTGGGTCAGAGGCGCCCAACACAGCCATGGGCGGGACTTACCGAGAAGTCTGTGTCTTCGGCCTTCAGGTGGTCTGCAATGTACTGGACGCCCTCCACCGCCCGGGTCAGGGCCGGCGACAGGGGCAGGTGCGGGGGCGGCGCTTTGGTGCTGCGGGTCTTGACCGTGGCGCTCGGGGACACCGAAGAGGGCTCCTTCTTGCATGTGCATTTGCACGGAGAGGGCTGGTCTGGGGGTGGGAGCTCAGCCGAGTGGGTGTTGCGAGAGGCCAGGGCGCCGGCAGCCTGGCCATCTGCCTCGGGGGCGGCATCGTCTCGGGGAACACAGTACTGGATGCTCCGAGACCGGCACCGGACGCCGCCTTCCACCGCTTCGCCAGGGCTGGACATGTGCTGGACGCTGAGGGACCTGGCTTTGGCCAGCCCTGGTGCCTGGGTGCCGTGGGGCGGGCGGCAGGGTCCAGGCGAGGGGTGGGGGCTGGCTTTCTCAGCTTCCAGGGGCTGCTGAGGAGGGAGCTGGTCGGAGGGTGACTTGCAGGAAGGCCCAGGCTCAGCCGGCACATCCAGGGGGACACAGAAGGACGGTGAGGGCGGGTGCAGGCTCTGGGTGCCGCTCGTGGCAGGGGGCTCCCCTTCTGGCTCGGGCCAGAAGCGCGGGGCACTGGCCATCTTATGCATGGACTCGATGAGCCGCCGGCAATTGTCCTTGACCACGGACGGCCGCTTCATGAGGAGCAGGCGTGGCACGATGTCCAGGAAGACCCTGCGTACCCAGGTGGGCATGGTGTGCGTGCGTGGCGAGCGGTGGTGCACGTTGAGCACGAAGACCGTGATGACGATGGACAGGGTGACGAAGATCATGGTGAACAGCAGGTACTCGCCGATGAGTGGGATGACCAGTGAGGTGGACGGGATGATCTCGGTGATGAGCAGCAGGAAGACGGTGAGCAACAGCAGCACGGAGATGCACAGCGTGATCTTCTCGCCACACTCGGAGGGCAGGTAGAAGACCAGCACGGTGAGGCAGGAGATGAGCAGGCAGGGGATGATGAGGTTGATGGTGTAGAAGAGCGGCAGCCGCCGGATGACGAAGGCATAGGTGATGTCCGGGTAGATCTCGGCACAGCACTCGTACTTCCTGGTGTTGTAGGTGCCCACGGCATCCACGATGACCCACTCGCCACTCTCCCAGAAGTCCAGCTGGTCCACGCGGCTGTGCATGTTCACCAGGTCGATCTTGGCCTTGTCGTAGGTCCAGGAGCCGAATTTCATGGTGCAGTTCTGCTGGTCGAAGGGGAAGAAGGTGACGTCGATGCTGCAGGAGCTCTTGTAAATGGCCGGGGGAGTCCACTGCACCCGCCCGTCATGGAACAGGTGGGCCTTGGTCAGGTGGGTGACCGCGAAGTCCCCGTCAGCACTGGGCAGGAAGAGAGCGAAGGGTGTGAGACCCCCACATCCATGCCCACGTCCACACCCACGCCCACTGCCACACCCATGCCCACGTCCACACCCACACCCACATCCACGCCCACATCCACGTCCACGCCCACATCCACGTCCACGCCCACATCCATGTCCCACGCCCACATCCACACCCACGTCCACGTCCACGCCCACATCCACACCCACGTCCACGTCCACGTCCACGTCCACACACAGAGGCATTCTCACGTCACAGGAGCACAAAAGGGCTGGCGGCCTTGCCCGGGTACACTGTTCGTCTTCTCACCTACTCGTGCACCTCAGTTTATCATCCCTGAGCTGGGCGTAGCACGTGGTTCAGAGAACGGGAAGGGACCTACGAGTGCCTGACACACATAATCACTGCTGCTGGTGATTACCCTTATCCATGAGTGGCGCATGGATGGGGCTAGTCTCCCAGCGTCACCTCCTGGGACACACGGCATCCCTATGTCCCCGCCCCTCCAAGCAGCACCCCGGGCCACCATGGGAATTCCTCACCCAGCTTCTGCCGTTAACCCCAAGGACTTGGAGGCCACCTCCCAGTGTGTGAGCATGAGGACACCAGGGGCCACAGAGGCAAGGACAGGTGTTCTGGCCACCCAGGGCCAATGCAGTGGGGCTGCATACGCACTGCCCAGTTCCAGGGCCACGTCTGAGCCACTGGCTCTGGACTCTCTTTTGCCTTGGGGGACGTGGGTGTTCTGTCCACAGGCCCAGGTGGGCAACAGAGCAATGGAGCGAGGGGCTGATGTCCCTTGAACTCCTCCCGGTAGGCAGAGCTCCCAGCCCCAGCCCCTGGTTCCATAGACAGCGGCTGGCTGGGTGGGACGCACTGCAGGAGCACATTCAGGGCTGAGGCAGCCAGGCTCACGGGGGCAGCAGCCGACCCTCCACCCCCACCCACAGAAGTCCCCACCAATGGGAAGCCTGAGGCCCCATTAAATCCCCAGCGTTGGCAGGCATGGGGCCAGGCTCAGCTCTGTGGAGGGCGCTGGGGCACGACGCGTCGGGGGGAGCGGCTGCCCAGCCACACACCTCCTGCTCCACCTCTGCCAAGCTGCCTGGACCCCTGCCCATCCCTCCTCTGCCTCATTCCCTGAGAGCCTGCTCAAAGGCCAGGGCCTCTCCAGGTACTTGGGCAGAGCTGGCGACTGTTCCCTGAGCTTCCTCTGTGCCTGCCCCCGAGTCCCAGGGCTGGACCTGCACCTCAACCTCCCTCCCAACCCTCAGGGACCCTCCCTTTGTGGAGCCGCCACTGCTGGAGCTCTGCCCTCCAGGTCGTGGAGACCTGGCCCCCCACGGTCTCAGTCGGTGCTGAGCCTCTGCCCCCCTGAACTGGTCCTGAGCCAACACCGCCGGCTGGGCTGCCGCTCAGCTGCAGAGGGAGGGAGACCCAGCAAGAGCCACCAGCTGCATCTCAATGCGGCTCCGGCCCAGCACAGCCTGGCTCCCGAGCGTCCCTCCAGCGGGGGGCGGGGCTTTACCACCAAGTCAGTCTGGGTGGAATCAGGCTCAAGTTTGCTCCCTCTCCCC
Task1_train_28028
Gene CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy
AGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGGAAACAGGGAAGCTACCTGGTGCTGGGGTCAGGCAAAGCTGGCTCAGCCCCAGCCTCTCCTGCATGGAATGGGTAGGAGACTGCACAGCCACGGGTAACACGGACATGGCTGCCACTTAGCAGAAACTGTGGCTCCTGGGGCCTCTGTGCGGCCAGTGCCTGGCGCTGGAGGGTGAGGGTAGGTGGGCTGGCCCCGGGCCCCGGGGGGCCTTAGCCGTGGGACCAGCGTTCTGCCCCCAGCCCCTGGCTCTCCCACCTGTCCCCAGCTTGGCCGTGTGGGGCTGATGGTCTTGGAGCTGTGTCCCTGTCCCAGCTCCGTCCTCCTGCCACCAGCCCATCCCATCCCATCTTCTCTGAGCCCCCTACATCCAGGCCCCAGATACGGAGGGGCCCCGGGGAGGCCCGCGGGGCAGGCACAGGCGCACTCTGGAGAAAGGGCCTTGGCAGTGCCTCGTTGCGTTCTGGGGACTTGGCCATTGCTGGGCAGGAGTTCCCAGAGCGCCCCCGTTCTGTGCTGGAAGGACGCTGCCTGTGGCCCCTCACCGTGCCGTCCGCCGAGGCCCACTGTGTCCCAAAGCCAGAGACGGCACCGGGATCCACCCTGTGCCAGCCACTCGGGGCCCCCTGCCCCGCTCAGCCTGGGACCTGCGGCCACATAGCAGGCTTGGGAAGAGGCTGCTGCAGCAGGGGCCACGCCCTGCACCCCAAAGCGAAGCAGCCTGAGGCCTGGGCCCGGCTCCTGGATTACACACCAGGAAGAAAGGGCGTCCGCCGGTTCCGTCTGGGTCAGAGGCGCCCAACACAGCCATGGGCGGGACTTACCGAGAAGTCTGTGTCTTCGGCCTTCAGGTGGTCTGCAATGTACTGGACGCCCTCCACCGCCCGGGTCAGGGCCGGCGACAGGGGCAGGTGCGGGGGCGGCGCTTTGGTGCTGCGGGTCTTGACCGTGGCGCTCGGGGACACCGAAGAGGGCTCCTTCTTGCATGTGCATTTGCACGGAGAGGGCTGGTCTGGGGGTGGGAGCTCAGCCGAGTGGGTGTTGCGAGAGGCCAGGGCGCCGGCAGCCTGGCCATCTGCCTCGGGGGCGGCATCGTCTCGGGGAACACAGTACTGGATGCTCCGAGACCGGCACCGGACGCCGCCTTCCACCGCTTCGCCAGGGCTGGACATGTGCTGGACGCTGAGGGACCTGGCTTTGGCCAGCCCTGGTGCCTGGGTGCCGTGGGGCGGGCGGCAGGGTCCAGGCGAGGGGTGGGGGCTGGCTTTCTCAGCTTCCAGGGGCTGCTGAGGAGGGAGCTGGTCGGAGGGTGACTTGCAGGAAGGCCCAGGCTCAGCCGGCACATCCAGGGGGACACAGAAGGACGGTGAGGGCGGGTGCAGGCTCTGGGTGCCGCTCGTGGCAGGGGGCTCCCCTTCTGGCTCGGGCCAGAAGCGCGGGGCACTGGCCATCTTATGCATGGACTCGATGAGCCGCCGGCAATTGTCCTTGACCACGGACGGCCGCTTCATGAGGAGCAGGCGTGGCACGATGTCCAGGAAGACCCTGCGTACCCAGGTGGGCATGGTGTGCGTGCGTGGCGAGCGGTGGTGCACGTTGAGCACGAAGACCGTGATGACGATGGACAGGGTGACGAAGATCATGGTGAACAGCAGGTACTCGCCGATGAGTGGGATGACCAGTGAGGTGGACGGGATGATCTCGGTGATGAGCAGCAGGAAGACGGTGAGCGACAGCAGCACGGAGATGCACAGCGTGATCTTCTCGCCACACTCGGAGGGCAGGTAGAAGACCAGCACGGTGAGGCAGGAGATGAGCAGGCAGGGGATGATGAGGTTGATGGTGTAGAAGAGCGGCAGCCGCCGGATGACGAAGGCATAGGTGATGTCCGGGTAGATCTCGGCACAGCACTCGTACTTCCTGGTGTTGTAGGTGCCCACGGCATCCACGATGACCCACTCGCCACTCTCCCAGAAGTCCAGCTGGTCCACGCGGCTGTGCATGTTCACCAGGTCGATCTTGGCCTTGTCGTAGGTCCAGGAGCCGAATTTCATGGTGCAGTTCTGCTGGTCGAAGGGGAAGAAGGTGACGTCGATGCTGCAGGAGCTCTTGTAAATGGCCGGGGGAGTCCACTGCACCCGCCCGTCATGGAACAGGTGGGCCTTGGTCAGGTGGGTGACCGCGAAGTCCCCGTCAGCACTGGGCAGGAAGAGAGCGAAGGGTGTGAGACCCCCACATCCATGCCCACGTCCACACCCACGCCCACTGCCACACCCATGCCCACGTCCACACCCACACCCACATCCACGCCCACATCCACGTCCACGCCCACATCCACGTCCACGCCCACATCCATGTCCCACGCCCACATCCACACCCACGTCCACGTCCACGCCCACATCCACACCCACGTCCACGTCCACGTCCACGTCCACACACAGAGGCATTCTCACGTCACAGGAGCACAAAAGGGCTGGCGGCCTTGCCCGGGTACACTGTTCGTCTTCTCACCTACTCGTGCACCTCAGTTTATCATCCCTGAGCTGGGCGTAGCACGTGGTTCAGAGAACGGGAAGGGACCTACGAGTGCCTGACACACATAATCACTGCTGCTGGTGATTACCCTTATCCATGAGTGGCGCATGGATGGGGCTAGTCTCCCAGCGTCACCTCCTGGGACACACGGCATCCCTATGTCCCCGCCCCTCCAAGCAGCACCCCGGGCCACCATGGGAATTCCTCACCCAGCTTCTGCCGTTAACCCCAAGGACTTGGAGGCCACCTCCCAGTGTGTGAGCATGAGGACACCAGGGGCCACAGAGGCAAGGACAGGTGTTCTGGCCACCCAGGGCCAATGCAGTGGGGCTGCATACGCACTGCCCAGTTCCAGGGCCACGTCTGAGCCACTGGCTCTGGACTCTCTTTTGCCTTGGGGGACGTGGGTGTTCTGTCCACAGGCCCAGGTGGGCAACAGAGCAATGGAGCGAGGGGCTGATGTCCCTTGAACTCCTCCCGGTAGGCAGAGCTCCCAGCCCCAGCCCCTGGTTCCATAGACAGCGGCTGGCTGGGTGGGACGCACTGCAGGAGCACATTCAGGGCTGAGGCAGCCAGGCTCACGGGGGCAGCAGCCGACCCTCCACCCCCACCCACAGAAGTCCCCACCAATGGGAAGCCTGAGGCCCCATTAAATCCCCAGCGTTGGCAGGCATGGGGCCAGGCTCAGCTCTGTGGAGGGCGCTGGGGCACGACGCGTCGGGGGGAGCGGCTGCCCAGCCACACACCTCCTGCTCCACCTCTGCCAAGCTGCCTGGACCCCTGCCCATCCCTCCTCTGCCTCATTCCCTGAGAGCCTGCTCAAAGGCCAGGGCCTCTCCAGGTACTTGGGCAGAGCTGGCGACTGTTCCCTGAGCTTCCTCTGTGCCTGCCCCCGAGTCCCAGGGCTGGACCTGCACCTCAACCTCCCTCCCAACCCTCAGGGACCCTCCCTTTGTGGAGCCGCCACTGCTGGAGCTCTGCCCTCCAGGTCGTGGAGACCTGGCCCCCCACGGTCTCAGTCGGTGCTGAGCCTCTGCCCCCCTGAACTGGTCCTGAGCCAACACCGCCGGCTGGGCTGCCGCTCAGCTGCAGAGGGAGGGAGACCCAGCAAGAGCCACCAGCTGCATCTCAATGCGGCTCCGGCCCAGCACAGCCTGGCTCCCGAGCGTCCCTCCAGCGGGGGGCGGGGCTTTACCACCAAGTCAGTCTGGGTGGAATCAGGCTCAAGTTTGCTCCCTCTCCCCAGCCCATCTCTC
AGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGGAAACAGGGAAGCTACCTGGTGCTGGGGTCAGGCAAAGCTGGCTCAGCCCCAGCCTCTCCTGCATGGAATGGGTAGGAGACTGCACAGCCACGGGTAACACGGACATGGCTGCCACTTAGCAGAAACTGTGGCTCCTGGGGCCTCTGTGCGGCCAGTGCCTGGCGCTGGAGGGTGAGGGTAGGTGGGCTGGCCCCGGGCCCCGGGGGGCCTTAGCCGTGGGACCAGCGTTCTGCCCCCAGCCCCTGGCTCTCCCACCTGTCCCCAGCTTGGCCGTGTGGGGCTGATGGTCTTGGAGCTGTGTCCCTGTCCCAGCTCCGTCCTCCTGCCACCAGCCCATCCCATCCCATCTTCTCTGAGCCCCCTACATCCAGGCCCCAGATACGGAGGGGCCCCGGGGAGGCCCGCGGGGCAGGCACAGGCGCACTCTGGAGAAAGGGCCTTGGCAGTGCCTCGTTGCGTTCTGGGGACTTGGCCATTGCTGGGCAGGAGTTCCCAGAGCGCCCCCGTTCTGTGCTGGAAGGACGCTGCCTGTGGCCCCTCACCGTGCCGTCCGCCGAGGCCCACTGTGTCCCAAAGCCAGAGACGGCACCGGGATCCACCCTGTGCCAGCCACTCGGGGCCCCCTGCCCCGCTCAGCCTGGGACCTGCGGCCACATAGCAGGCTTGGGAAGAGGCTGCTGCAGCAGGGGCCACGCCCTGCACCCCAAAGCGAAGCAGCCTGAGGCCTGGGCCCGGCTCCTGGATTACACACCAGGAAGAAAGGGCGTCCGCCGGTTCCGTCTGGGTCAGAGGCGCCCAACACAGCCATGGGCGGGACTTACCGAGAAGTCTGTGTCTTCGGCCTTCAGGTGGTCTGCAATGTACTGGACGCCCTCCACCGCCCGGGTCAGGGCCGGCGACAGGGGCAGGTGCGGGGGCGGCGCTTTGGTGCTGCGGGTCTTGACCGTGGCGCTCGGGGACACCGAAGAGGGCTCCTTCTTGCATGTGCATTTGCACGGAGAGGGCTGGTCTGGGGGTGGGAGCTCAGCCGAGTGGGTGTTGCGAGAGGCCAGGGCGCCGGCAGCCTGGCCATCTGCCTCGGGGGCGGCATCGTCTCGGGGAACACAGTACTGGATGCTCCGAGACCGGCACCGGACGCCGCCTTCCACCGCTTCGCCAGGGCTGGACATGTGCTGGACGCTGAGGGACCTGGCTTTGGCCAGCCCTGGTGCCTGGGTGCCGTGGGGCGGGCGGCAGGGTCCAGGCGAGGGGTGGGGGCTGGCTTTCTCAGCTTCCAGGGGCTGCTGAGGAGGGAGCTGGTCGGAGGGTGACTTGCAGGAAGGCCCAGGCTCAGCCGGCACATCCAGGGGGACACAGAAGGACGGTGAGGGCGGGTGCAGGCTCTGGGTGCCGCTCGTGGCAGGGGGCTCCCCTTCTGGCTCGGGCCAGAAGCGCGGGGCACTGGCCATCTTATGCATGGACTCGATGAGCCGCCGGCAATTGTCCTTGACCACGGACGGCCGCTTCATGAGGAGCAGGCGTGGCACGATGTCCAGGAAGACCCTGCGTACCCAGGTGGGCATGGTGTGCGTGCGTGGCGAGCGGTGGTGCACGTTGAGCACGAAGACCGTGATGACGATGGACAGGGTGACGAAGATCATGGTGAACAGCAGGTACTCGCCGATGAGTGGGATGACCAGTGAGGTGGACGGGATGATCTCGGTGATGAGCAGCAGGAAGACGGTGAGCGACAGCAGCACGAAGATGCACAGCGTGATCTTCTCGCCACACTCGGAGGGCAGGTAGAAGACCAGCACGGTGAGGCAGGAGATGAGCAGGCAGGGGATGATGAGGTTGATGGTGTAGAAGAGCGGCAGCCGCCGGATGACGAAGGCATAGGTGATGTCCGGGTAGATCTCGGCACAGCACTCGTACTTCCTGGTGTTGTAGGTGCCCACGGCATCCACGATGACCCACTCGCCACTCTCCCAGAAGTCCAGCTGGTCCACGCGGCTGTGCATGTTCACCAGGTCGATCTTGGCCTTGTCGTAGGTCCAGGAGCCGAATTTCATGGTGCAGTTCTGCTGGTCGAAGGGGAAGAAGGTGACGTCGATGCTGCAGGAGCTCTTGTAAATGGCCGGGGGAGTCCACTGCACCCGCCCGTCATGGAACAGGTGGGCCTTGGTCAGGTGGGTGACCGCGAAGTCCCCGTCAGCACTGGGCAGGAAGAGAGCGAAGGGTGTGAGACCCCCACATCCATGCCCACGTCCACACCCACGCCCACTGCCACACCCATGCCCACGTCCACACCCACACCCACATCCACGCCCACATCCACGTCCACGCCCACATCCACGTCCACGCCCACATCCATGTCCCACGCCCACATCCACACCCACGTCCACGTCCACGCCCACATCCACACCCACGTCCACGTCCACGTCCACGTCCACACACAGAGGCATTCTCACGTCACAGGAGCACAAAAGGGCTGGCGGCCTTGCCCGGGTACACTGTTCGTCTTCTCACCTACTCGTGCACCTCAGTTTATCATCCCTGAGCTGGGCGTAGCACGTGGTTCAGAGAACGGGAAGGGACCTACGAGTGCCTGACACACATAATCACTGCTGCTGGTGATTACCCTTATCCATGAGTGGCGCATGGATGGGGCTAGTCTCCCAGCGTCACCTCCTGGGACACACGGCATCCCTATGTCCCCGCCCCTCCAAGCAGCACCCCGGGCCACCATGGGAATTCCTCACCCAGCTTCTGCCGTTAACCCCAAGGACTTGGAGGCCACCTCCCAGTGTGTGAGCATGAGGACACCAGGGGCCACAGAGGCAAGGACAGGTGTTCTGGCCACCCAGGGCCAATGCAGTGGGGCTGCATACGCACTGCCCAGTTCCAGGGCCACGTCTGAGCCACTGGCTCTGGACTCTCTTTTGCCTTGGGGGACGTGGGTGTTCTGTCCACAGGCCCAGGTGGGCAACAGAGCAATGGAGCGAGGGGCTGATGTCCCTTGAACTCCTCCCGGTAGGCAGAGCTCCCAGCCCCAGCCCCTGGTTCCATAGACAGCGGCTGGCTGGGTGGGACGCACTGCAGGAGCACATTCAGGGCTGAGGCAGCCAGGCTCACGGGGGCAGCAGCCGACCCTCCACCCCCACCCACAGAAGTCCCCACCAATGGGAAGCCTGAGGCCCCATTAAATCCCCAGCGTTGGCAGGCATGGGGCCAGGCTCAGCTCTGTGGAGGGCGCTGGGGCACGACGCGTCGGGGGGAGCGGCTGCCCAGCCACACACCTCCTGCTCCACCTCTGCCAAGCTGCCTGGACCCCTGCCCATCCCTCCTCTGCCTCATTCCCTGAGAGCCTGCTCAAAGGCCAGGGCCTCTCCAGGTACTTGGGCAGAGCTGGCGACTGTTCCCTGAGCTTCCTCTGTGCCTGCCCCCGAGTCCCAGGGCTGGACCTGCACCTCAACCTCCCTCCCAACCCTCAGGGACCCTCCCTTTGTGGAGCCGCCACTGCTGGAGCTCTGCCCTCCAGGTCGTGGAGACCTGGCCCCCCACGGTCTCAGTCGGTGCTGAGCCTCTGCCCCCCTGAACTGGTCCTGAGCCAACACCGCCGGCTGGGCTGCCGCTCAGCTGCAGAGGGAGGGAGACCCAGCAAGAGCCACCAGCTGCATCTCAATGCGGCTCCGGCCCAGCACAGCCTGGCTCCCGAGCGTCCCTCCAGCGGGGGGCGGGGCTTTACCACCAAGTCAGTCTGGGTGGAATCAGGCTCAAGTTTGCTCCCTCTCCCCAGCCCATCTCTC
Task1_train_28029
Gene CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 1
AGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGGAAACAGGGAAGCTACCTGGTGCTGGGGTCAGGCAAAGCTGGCTCAGCCCCAGCCTCTCCTGCATGGAATGGGTAGGAGACTGCACAGCCACGGGTAACACGGACATGGCTGCCACTTAGCAGAAACTGTGGCTCCTGGGGCCTCTGTGCGGCCAGTGCCTGGCGCTGGAGGGTGAGGGTAGGTGGGCTGGCCCCGGGCCCCGGGGGGCCTTAGCCGTGGGACCAGCGTTCTGCCCCCAGCCCCTGGCTCTCCCACCTGTCCCCAGCTTGGCCGTGTGGGGCTGATGGTCTTGGAGCTGTGTCCCTGTCCCAGCTCCGTCCTCCTGCCACCAGCCCATCCCATCCCATCTTCTCTGAGCCCCCTACATCCAGGCCCCAGATACGGAGGGGCCCCGGGGAGGCCCGCGGGGCAGGCACAGGCGCACTCTGGAGAAAGGGCCTTGGCAGTGCCTCGTTGCGTTCTGGGGACTTGGCCATTGCTGGGCAGGAGTTCCCAGAGCGCCCCCGTTCTGTGCTGGAAGGACGCTGCCTGTGGCCCCTCACCGTGCCGTCCGCCGAGGCCCACTGTGTCCCAAAGCCAGAGACGGCACCGGGATCCACCCTGTGCCAGCCACTCGGGGCCCCCTGCCCCGCTCAGCCTGGGACCTGCGGCCACATAGCAGGCTTGGGAAGAGGCTGCTGCAGCAGGGGCCACGCCCTGCACCCCAAAGCGAAGCAGCCTGAGGCCTGGGCCCGGCTCCTGGATTACACACCAGGAAGAAAGGGCGTCCGCCGGTTCCGTCTGGGTCAGAGGCGCCCAACACAGCCATGGGCGGGACTTACCGAGAAGTCTGTGTCTTCGGCCTTCAGGTGGTCTGCAATGTACTGGACGCCCTCCACCGCCCGGGTCAGGGCCGGCGACAGGGGCAGGTGCGGGGGCGGCGCTTTGGTGCTGCGGGTCTTGACCGTGGCGCTCGGGGACACCGAAGAGGGCTCCTTCTTGCATGTGCATTTGCACGGAGAGGGCTGGTCTGGGGGTGGGAGCTCAGCCGAGTGGGTGTTGCGAGAGGCCAGGGCGCCGGCAGCCTGGCCATCTGCCTCGGGGGCGGCATCGTCTCGGGGAACACAGTACTGGATGCTCCGAGACCGGCACCGGACGCCGCCTTCCACCGCTTCGCCAGGGCTGGACATGTGCTGGACGCTGAGGGACCTGGCTTTGGCCAGCCCTGGTGCCTGGGTGCCGTGGGGCGGGCGGCAGGGTCCAGGCGAGGGGTGGGGGCTGGCTTTCTCAGCTTCCAGGGGCTGCTGAGGAGGGAGCTGGTCGGAGGGTGACTTGCAGGAAGGCCCAGGCTCAGCCGGCACATCCAGGGGGACACAGAAGGACGGTGAGGGCGGGTGCAGGCTCTGGGTGCCGCTCGTGGCAGGGGGCTCCCCTTCTGGCTCGGGCCAGAAGCGCGGGGCACTGGCCATCTTATGCATGGACTCGATGAGCCGCCGGCAATTGTCCTTGACCACGGACGGCCGCTTCATGAGGAGCAGGCGTGGCACGATGTCCAGGAAGACCCTGCGTACCCAGGTGGGCATGGTGTGCGTGCGTGGCGAGCGGTGGTGCACGTTGAGCACGAAGACCGTGATGACGATGGACAGGGTGACGAAGATCATGGTGAACAGCAGGTACTCGCCGATGAGTGGGATGACCAGTGAGGTGGACGGGATGATCTCGGTGATGAGCAGCAGGAAGACGGTGAGCGACAGCAGCACGGAGATGCACAGCGTGATCTTCTCGCCACACTCGGAGGGCAGGTAGAAGACCAGCACGGTGAGGCAGGAGATGAGCAGGCAGGGGATGATGAGGTTGATGGTGTAGAAGAGCGGCAGCCGCCGGATGACGAAGGCATAGGTGATGTCCGGGTAGATCTCGGCACAGCACTCGTACTTCCTGGTGTTGTAGGTGCCCACGGCATCCACGATGACCCACTCGCCACTCTCCCAGAAGTCCAGCTGGTCCACGCGGCTGTGCATGTTCACCAGGTCGATCTTGGCCTTGTCGTAGGTCCAGGAGCCGAATTTCATGGTGCAGTTCTGCTGGTCGAAGGGGAAGAAGGTGACGTCGATGCTGCAGGAGCTCTTGTAAATGGCCGGGGGAGTCCACTGCACCCGCCCGTCATGGAACAGGTGGGCCTTGGTCAGGTGGGTGACCGCGAAGTCCCCGTCAGCACTGGGCAGGAAGAGAGCGAAGGGTGTGAGACCCCCACATCCATGCCCACGTCCACACCCACGCCCACTGCCACACCCATGCCCACGTCCACACCCACACCCACATCCACGCCCACATCCACGTCCACGCCCACATCCACGTCCACGCCCACATCCATGTCCCACGCCCACATCCACACCCACGTCCACGTCCACGCCCACATCCACACCCACGTCCACGTCCACGTCCACGTCCACACACAGAGGCATTCTCACGTCACAGGAGCACAAAAGGGCTGGCGGCCTTGCCCGGGTACACTGTTCGTCTTCTCACCTACTCGTGCACCTCAGTTTATCATCCCTGAGCTGGGCGTAGCACGTGGTTCAGAGAACGGGAAGGGACCTACGAGTGCCTGACACACATAATCACTGCTGCTGGTGATTACCCTTATCCATGAGTGGCGCATGGATGGGGCTAGTCTCCCAGCGTCACCTCCTGGGACACACGGCATCCCTATGTCCCCGCCCCTCCAAGCAGCACCCCGGGCCACCATGGGAATTCCTCACCCAGCTTCTGCCGTTAACCCCAAGGACTTGGAGGCCACCTCCCAGTGTGTGAGCATGAGGACACCAGGGGCCACAGAGGCAAGGACAGGTGTTCTGGCCACCCAGGGCCAATGCAGTGGGGCTGCATACGCACTGCCCAGTTCCAGGGCCACGTCTGAGCCACTGGCTCTGGACTCTCTTTTGCCTTGGGGGACGTGGGTGTTCTGTCCACAGGCCCAGGTGGGCAACAGAGCAATGGAGCGAGGGGCTGATGTCCCTTGAACTCCTCCCGGTAGGCAGAGCTCCCAGCCCCAGCCCCTGGTTCCATAGACAGCGGCTGGCTGGGTGGGACGCACTGCAGGAGCACATTCAGGGCTGAGGCAGCCAGGCTCACGGGGGCAGCAGCCGACCCTCCACCCCCACCCACAGAAGTCCCCACCAATGGGAAGCCTGAGGCCCCATTAAATCCCCAGCGTTGGCAGGCATGGGGCCAGGCTCAGCTCTGTGGAGGGCGCTGGGGCACGACGCGTCGGGGGGAGCGGCTGCCCAGCCACACACCTCCTGCTCCACCTCTGCCAAGCTGCCTGGACCCCTGCCCATCCCTCCTCTGCCTCATTCCCTGAGAGCCTGCTCAAAGGCCAGGGCCTCTCCAGGTACTTGGGCAGAGCTGGCGACTGTTCCCTGAGCTTCCTCTGTGCCTGCCCCCGAGTCCCAGGGCTGGACCTGCACCTCAACCTCCCTCCCAACCCTCAGGGACCCTCCCTTTGTGGAGCCGCCACTGCTGGAGCTCTGCCCTCCAGGTCGTGGAGACCTGGCCCCCCACGGTCTCAGTCGGTGCTGAGCCTCTGCCCCCCTGAACTGGTCCTGAGCCAACACCGCCGGCTGGGCTGCCGCTCAGCTGCAGAGGGAGGGAGACCCAGCAAGAGCCACCAGCTGCATCTCAATGCGGCTCCGGCCCAGCACAGCCTGGCTCCCGAGCGTCCCTCCAGCGGGGGGCGGGGCTTTACCACCAAGTCAGTCTGGGTGGAATCAGGCTCAAGTTTGCTCCCTCTCCCCAGCCCATCTCTC
AGATGCGTCCGAATAAACCATCGAGGATGGCGCTCTGGGGTCCTGGCAGAGGTGGCCCCTTCAGACGGAGGTGGCCCACTGAGGGCACCAGGCCCTGGCACCGGGACAAGAGCCAGGAGGTGCCGGCGACAGCAGGTGGATGGACAGGACAGATGCCGAATTGCCGCTGTGGACGTCATGGGCTGCACAGCCGAGGCCGAGACCCCCGGCCACCTGTGTGCCCCACCCGTCCCGCCCCATTATCCTGTCCGTGGACCCTGGCCCCTGTGCCTCCCCCCATGTGACAGGCAGTAAATGTCTGCAGAAGGAAACAGGGAAGCTACCTGGTGCTGGGGTCAGGCAAAGCTGGCTCAGCCCCAGCCTCTCCTGCATGGAATGGGTAGGAGACTGCACAGCCACGGGTAACACGGACATGGCTGCCACTTAGCAGAAACTGTGGCTCCTGGGGCCTCTGTGCGGCCAGTGCCTGGCGCTGGAGGGTGAGGGTAGGTGGGCTGGCCCCGGGCCCCGGGGGGCCTTAGCCGTGGGACCAGCGTTCTGCCCCCAGCCCCTGGCTCTCCCACCTGTCCCCAGCTTGGCCGTGTGGGGCTGATGGTCTTGGAGCTGTGTCCCTGTCCCAGCTCCGTCCTCCTGCCACCAGCCCATCCCATCCCATCTTCTCTGAGCCCCCTACATCCAGGCCCCAGATACGGAGGGGCCCCGGGGAGGCCCGCGGGGCAGGCACAGGCGCACTCTGGAGAAAGGGCCTTGGCAGTGCCTCGTTGCGTTCTGGGGACTTGGCCATTGCTGGGCAGGAGTTCCCAGAGCGCCCCCGTTCTGTGCTGGAAGGACGCTGCCTGTGGCCCCTCACCGTGCCGTCCGCCGAGGCCCACTGTGTCCCAAAGCCAGAGACGGCACCGGGATCCACCCTGTGCCAGCCACTCGGGGCCCCCTGCCCCGCTCAGCCTGGGACCTGCGGCCACATAGCAGGCTTGGGAAGAGGCTGCTGCAGCAGGGGCCACGCCCTGCACCCCAAAGCGAAGCAGCCTGAGGCCTGGGCCCGGCTCCTGGATTACACACCAGGAAGAAAGGGCGTCCGCCGGTTCCGTCTGGGTCAGAGGCGCCCAACACAGCCATGGGCGGGACTTACCGAGAAGTCTGTGTCTTCGGCCTTCAGGTGGTCTGCAATGTACTGGACGCCCTCCACCGCCCGGGTCAGGGCCGGCGACAGGGGCAGGTGCGGGGGCGGCGCTTTGGTGCTGCGGGTCTTGACCGTGGCGCTCGGGGACACCGAAGAGGGCTCCTTCTTGCATGTGCATTTGCACGGAGAGGGCTGGTCTGGGGGTGGGAGCTCAGCCGAGTGGGTGTTGCGAGAGGCCAGGGCGCCGGCAGCCTGGCCATCTGCCTCGGGGGCGGCATCGTCTCGGGGAACACAGTACTGGATGCTCCGAGACCGGCACCGGACGCCGCCTTCCACCGCTTCGCCAGGGCTGGACATGTGCTGGACGCTGAGGGACCTGGCTTTGGCCAGCCCTGGTGCCTGGGTGCCGTGGGGCGGGCGGCAGGGTCCAGGCGAGGGGTGGGGGCTGGCTTTCTCAGCTTCCAGGGGCTGCTGAGGAGGGAGCTGGTCGGAGGGTGACTTGCAGGAAGGCCCAGGCTCAGCCGGCACATCCAGGGGGACACAGAAGGACGGTGAGGGCGGGTGCAGGCTCTGGGTGCCGCTCGTGGCAGGGGGCTCCCCTTCTGGCTCGGGCCAGAAGCGCGGGGCACTGGCCATCTTATGCATGGACTCGATGAGCCGCCGGCAATTGTCCTTGACCACGGACGGCCGCTTCATGAGGAGCAGGCGTGGCACGATGTCCAGGAAGACCCTGCGTACCCAGGTGGGCATGGTGTGCGTGCGTGGCGAGCGGTGGTGCACGTTGAGCACGAAGACCGTGATGACGATGGACAGGGTGACGAAGATCATGGTGAACAGCAGGTACTCGCCGATGAGTGGGATGACCAGTGAGGTGGACGGGATGATCTCGGTGATGAGCAGCAGGAAGACGGTGAGCGACAGCAGCACGAAGATGCACAGCGTGATCTTCTCGCCACACTCGGAGGGCAGGTAGAAGACCAGCACGGTGAGGCAGGAGATGAGCAGGCAGGGGATGATGAGGTTGATGGTGTAGAAGAGCGGCAGCCGCCGGATGACGAAGGCATAGGTGATGTCCGGGTAGATCTCGGCACAGCACTCGTACTTCCTGGTGTTGTAGGTGCCCACGGCATCCACGATGACCCACTCGCCACTCTCCCAGAAGTCCAGCTGGTCCACGCGGCTGTGCATGTTCACCAGGTCGATCTTGGCCTTGTCGTAGGTCCAGGAGCCGAATTTCATGGTGCAGTTCTGCTGGTCGAAGGGGAAGAAGGTGACGTCGATGCTGCAGGAGCTCTTGTAAATGGCCGGGGGAGTCCACTGCACCCGCCCGTCATGGAACAGGTGGGCCTTGGTCAGGTGGGTGACCGCGAAGTCCCCGTCAGCACTGGGCAGGAAGAGAGCGAAGGGTGTGAGACCCCCACATCCATGCCCACGTCCACACCCACGCCCACTGCCACACCCATGCCCACGTCCACACCCACACCCACATCCACGCCCACATCCACGTCCACGCCCACATCCACGTCCACGCCCACATCCATGTCCCACGCCCACATCCACACCCACGTCCACGTCCACGCCCACATCCACACCCACGTCCACGTCCACGTCCACGTCCACACACAGAGGCATTCTCACGTCACAGGAGCACAAAAGGGCTGGCGGCCTTGCCCGGGTACACTGTTCGTCTTCTCACCTACTCGTGCACCTCAGTTTATCATCCCTGAGCTGGGCGTAGCACGTGGTTCAGAGAACGGGAAGGGACCTACGAGTGCCTGACACACATAATCACTGCTGCTGGTGATTACCCTTATCCATGAGTGGCGCATGGATGGGGCTAGTCTCCCAGCGTCACCTCCTGGGACACACGGCATCCCTATGTCCCCGCCCCTCCAAGCAGCACCCCGGGCCACCATGGGAATTCCTCACCCAGCTTCTGCCGTTAACCCCAAGGACTTGGAGGCCACCTCCCAGTGTGTGAGCATGAGGACACCAGGGGCCACAGAGGCAAGGACAGGTGTTCTGGCCACCCAGGGCCAATGCAGTGGGGCTGCATACGCACTGCCCAGTTCCAGGGCCACGTCTGAGCCACTGGCTCTGGACTCTCTTTTGCCTTGGGGGACGTGGGTGTTCTGTCCACAGGCCCAGGTGGGCAACAGAGCAATGGAGCGAGGGGCTGATGTCCCTTGAACTCCTCCCGGTAGGCAGAGCTCCCAGCCCCAGCCCCTGGTTCCATAGACAGCGGCTGGCTGGGTGGGACGCACTGCAGGAGCACATTCAGGGCTGAGGCAGCCAGGCTCACGGGGGCAGCAGCCGACCCTCCACCCCCACCCACAGAAGTCCCCACCAATGGGAAGCCTGAGGCCCCATTAAATCCCCAGCGTTGGCAGGCATGGGGCCAGGCTCAGCTCTGTGGAGGGCGCTGGGGCACGACGCGTCGGGGGGAGCGGCTGCCCAGCCACACACCTCCTGCTCCACCTCTGCCAAGCTGCCTGGACCCCTGCCCATCCCTCCTCTGCCTCATTCCCTGAGAGCCTGCTCAAAGGCCAGGGCCTCTCCAGGTACTTGGGCAGAGCTGGCGACTGTTCCCTGAGCTTCCTCTGTGCCTGCCCCCGAGTCCCAGGGCTGGACCTGCACCTCAACCTCCCTCCCAACCCTCAGGGACCCTCCCTTTGTGGAGCCGCCACTGCTGGAGCTCTGCCCTCCAGGTCGTGGAGACCTGGCCCCCCACGGTCTCAGTCGGTGCTGAGCCTCTGCCCCCCTGAACTGGTCCTGAGCCAACACCGCCGGCTGGGCTGCCGCTCAGCTGCAGAGGGAGGGAGACCCAGCAAGAGCCACCAGCTGCATCTCAATGCGGCTCCGGCCCAGCACAGCCTGGCTCCCGAGCGTCCCTCCAGCGGGGGGCGGGGCTTTACCACCAAGTCAGTCTGGGTGGAATCAGGCTCAAGTTTGCTCCCTCTCCCCAGCCCATCTCTC
Task1_train_28030
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
GCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCCACCGGGTCTGATGGGGACGGAGTTAAATGTCTGCGGCGGGGACAACAGAAGCAGAAAAGGCGTGAGAGCTGCGGCTCCATGCACCAGGACAAGGAGAGAAGGCCCAGAGCAGCACAGGAACCAACGCACAA
GCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGATGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCCACCGGGTCTGATGGGGACGGAGTTAAATGTCTGCGGCGGGGACAACAGAAGCAGAAAAGGCGTGAGAGCTGCGGCTCCATGCACCAGGACAAGGAGAGAAGGCCCAGAGCAGCACAGGAACCAACGCACAA
Task1_train_28031
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
GGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCCACCGGGTCTGATGGGGACGGAGTTAAATGTCTGCGGCGGGGACAACAGAAGCAGAAAAGGCGTGAGAGCTGCGGCTCCATGCACCAGGACAAGGAGAGAAGGCCCAGAGCAGCACAGGAACCAACGCACAAACCAGAAGAGGGGAGACAAAGCTGCGAGGGTCTGTGTGTGCACGTGTGTGTGCACTCGATGTGCATGTGTGTGCCCTCATGTGCATTGCACAAGTTTCTGTGTGCACGCGTGTGCATGTGTTCATGTGTGCAAGAGTGTGCACGTTTGCGTGTGTGCATGTGTGTGTGTAGGATGCAGAATTCAGCTGAGCTGATCTCCAATGAGGCCACAGGTCACTCATGACAATAAGAAGGGAGGGAGGCTCCTTTGCCCTCAGGGACGGGGGCTTCTGACCAGTCTGGTATCCACAGAGTCACGGCCACTGCTGGGCTGGCAGGGGCCACCACGGTGGGTGTGCGCTGAGGCCTGCAGCTACGTGGGAACTCACTTGGAAACAAAGACCCTGCAGTAAGTCTACAAAAGCCCAGCTGGACAAGGGCAGCTCAAGACGGGGTGTGGCTGAGCAGGACCCACCCAGGAGAGGCCACAAGCTCCCAAGTCTCCCCTGGACTGGGGCCTGGTACATGAAGACTGCCCCACACCAGCCGACGGGGCCAAGTCCTCACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGTGGGGGAGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGAGGGGGGAGGGTGGGCCAGGGGTGTTATCTTCTTTCTGTTGCGAGAAACAGAGAGGGTTTCAGGCTCGCGTCGGCCACAGTGCAGCTCCTCATGCTCCGCGGGGCTTCATGCTGGACTCATGCAATAGGGCCAGGAGGGCGGGAGGGGACGGCGGGAGGGGACCCTCTGGCTCCGAGCAGACGCCAGTGGCGATGGAGGAGATGGGAGTCCCTGGTGTTCGGGGCATCCACACAGTCCAGGCAGATGCTCAGCACCTTCGCCCCTGCCACATGACGGGCCGCCCGCCTGCTCAGTCCCAATAGGAGCCCTGGCCACGGGCTCAGCCTGGAGCTGCTGCTGGGGGCTCCTCCAAGGACCCTGTGCCCCTCCTGCCCTGGGCCCCTGGCTGGAGGAGACTTGATCCCTGAGTGCTCAGTGCCCCGTGAGGTGGGGCAAGCGCTCCAACTGTCTCCCTGGCCCCCTGTGTGAACCTGCACGTCTCCTAGCCACAAGACCGTCCGAGCTCAC
GGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCGGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCCACCGGGTCTGATGGGGACGGAGTTAAATGTCTGCGGCGGGGACAACAGAAGCAGAAAAGGCGTGAGAGCTGCGGCTCCATGCACCAGGACAAGGAGAGAAGGCCCAGAGCAGCACAGGAACCAACGCACAAACCAGAAGAGGGGAGACAAAGCTGCGAGGGTCTGTGTGTGCACGTGTGTGTGCACTCGATGTGCATGTGTGTGCCCTCATGTGCATTGCACAAGTTTCTGTGTGCACGCGTGTGCATGTGTTCATGTGTGCAAGAGTGTGCACGTTTGCGTGTGTGCATGTGTGTGTGTAGGATGCAGAATTCAGCTGAGCTGATCTCCAATGAGGCCACAGGTCACTCATGACAATAAGAAGGGAGGGAGGCTCCTTTGCCCTCAGGGACGGGGGCTTCTGACCAGTCTGGTATCCACAGAGTCACGGCCACTGCTGGGCTGGCAGGGGCCACCACGGTGGGTGTGCGCTGAGGCCTGCAGCTACGTGGGAACTCACTTGGAAACAAAGACCCTGCAGTAAGTCTACAAAAGCCCAGCTGGACAAGGGCAGCTCAAGACGGGGTGTGGCTGAGCAGGACCCACCCAGGAGAGGCCACAAGCTCCCAAGTCTCCCCTGGACTGGGGCCTGGTACATGAAGACTGCCCCACACCAGCCGACGGGGCCAAGTCCTCACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGTGGGGGAGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGAGGGGGGAGGGTGGGCCAGGGGTGTTATCTTCTTTCTGTTGCGAGAAACAGAGAGGGTTTCAGGCTCGCGTCGGCCACAGTGCAGCTCCTCATGCTCCGCGGGGCTTCATGCTGGACTCATGCAATAGGGCCAGGAGGGCGGGAGGGGACGGCGGGAGGGGACCCTCTGGCTCCGAGCAGACGCCAGTGGCGATGGAGGAGATGGGAGTCCCTGGTGTTCGGGGCATCCACACAGTCCAGGCAGATGCTCAGCACCTTCGCCCCTGCCACATGACGGGCCGCCCGCCTGCTCAGTCCCAATAGGAGCCCTGGCCACGGGCTCAGCCTGGAGCTGCTGCTGGGGGCTCCTCCAAGGACCCTGTGCCCCTCCTGCCCTGGGCCCCTGGCTGGAGGAGACTTGATCCCTGAGTGCTCAGTGCCCCGTGAGGTGGGGCAAGCGCTCCAACTGTCTCCCTGGCCCCCTGTGTGAACCTGCACGTCTCCTAGCCACAAGACCGTCCGAGCTCAC
Task1_train_28032
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; Early infantile epileptic encephalopathy with suppression bursts
CCAGAGGGATGTCTGTGCAGGTCTGATGGCATCTGATCCTGGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGA
CCAGAGGGATGTCTGTGCAGGTCTGATGGCATCTGATCCTGGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCCGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGA
Task1_train_28033
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; not provided
GATGTCTGTGCAGGTCTGATGGCATCTGATCCTGGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGG
GATGTCTGTGCAGGTCTGATGGCATCTGATCCTGGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGGATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGG
Task1_train_28034
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; Early infantile epileptic encephalopathy with suppression bursts
GATGTCTGTGCAGGTCTGATGGCATCTGATCCTGGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGG
GATGTCTGTGCAGGTCTGATGGCATCTGATCCTGGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGTATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGG
Task1_train_28035
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; not provided
GAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGA
GAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGTCGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGA
Task1_train_28036
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
GGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGC
GGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGCCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGC
Task1_train_28037
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; not provided
GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCT
GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTAGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCT
Task1_train_28038
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; Inborn genetic diseases
GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCT
GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTTGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCT
Task1_train_28039
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; Early infantile epileptic encephalopathy with suppression bursts
GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCT
GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTTGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCT
Task1_train_28040
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; Developmental and epileptic encephalopathy, 7
GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCT
GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTTGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCT
Task1_train_28041
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; Seizures, benign familial neonatal, 1
GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCT
GGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTTGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCT
Task1_train_28042
A variant on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
GCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGG
GCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTTGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGG
Task1_train_28043
This genomic variant is located on Chromosome 20, within the KCNQ2 (potassium voltage-gated channel subfamily Q member 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTG
CTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGAGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTG
Task1_train_28044
Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; KCNQ2-related disorder
TCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGG
TCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGACCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGG
Task1_train_28045
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; Early infantile epileptic encephalopathy with suppression bursts
GAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCC
GAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTCGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCC
Task1_train_28046
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; Early infantile epileptic encephalopathy with suppression bursts
AAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCG
AAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTCAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCG
Task1_train_28047
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
TCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCT
TCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAAATTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCT
Task1_train_28048
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; not provided
ACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCT
ACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCAGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCT
Task1_train_28049
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
ACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCT
ACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCTGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCT
Task1_train_28050
This genomic variant is located on Chromosome 20, within the KCNQ2 (potassium voltage-gated channel subfamily Q member 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Developmental and epileptic encephalopathy, 7
ACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCT
ACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCTGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCT
Task1_train_28051
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
CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTC
CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCACTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTC
Task1_train_28052
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; Seizures, benign familial neonatal, 1
CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTC
CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCACTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTC
Task1_train_28053
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
CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTC
CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCACTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTC
Task1_train_28054
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; Seizure
CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTC
CAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCACTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTC
Task1_train_28055
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; not provided
GGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGCC
GGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCACGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGCC
Task1_train_28056
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; Early infantile epileptic encephalopathy with suppression bursts
GTCTGTCCACCCTGGCCAACTCAGGATCCTCAAGAAGAATCCTGGGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCT
GTCTGTCCACCCTGGCCAACTCAGGATCCTCAAGAAGAATCCTGGGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTCCCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCT
Task1_train_28057
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
GTCTGTCCACCCTGGCCAACTCAGGATCCTCAAGAAGAATCCTGGGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCT
GTCTGTCCACCCTGGCCAACTCAGGATCCTCAAGAAGAATCCTGGGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTGCCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCT
Task1_train_28058
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
GGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGA
GGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACTTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGA
Task1_train_28059
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
CCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCAC
CCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCTGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCAC
Task1_train_28060
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; Early infantile epileptic encephalopathy with suppression bursts
GCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCACCCT
GCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGCCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCACCCT
Task1_train_28061
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
AATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCACCCTCTGGCC
AATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGTGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCACCCTCTGGCC
Task1_train_28062
An alteration has been detected in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
ATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCACCCTCTGGCCA
ATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCCCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCACCCTCTGGCCA
Task1_train_28063
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
AGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCACCCTCTGGCCACAGTGG
AGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAAGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCACCCTCTGGCCACAGTGG
Task1_train_28064
An alteration has been detected in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
GTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCACCCTCTGGCCACAGTGGTTCATCTCT
GTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGTGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCACCCTCTGGCCACAGTGGTTCATCTCT
Task1_train_28065
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; Seizure
GTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCACCCTCTGGCCACAGTGGTTCATCTCT
GTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGTGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCACCCTCTGGCCACAGTGGTTCATCTCT
Task1_train_28066
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
CCTCATCAGCAGTGGCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGT
CCTCATCAGCAGTGGCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACGTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGT
Task1_train_28067
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; Seizure
AGCAGTGGCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCT
AGCAGTGGCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCCGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCT
Task1_train_28068
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
GGCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTC
GGCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTCCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTC
Task1_train_28069
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; not provided
GCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCC
GCCACCAGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGTTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCC
Task1_train_28070
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
AGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGAC
AGCATCGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGCGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGAC
Task1_train_28071
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; Early infantile epileptic encephalopathy with suppression bursts
CGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGC
CGAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCTGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGC
Task1_train_28072
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
GAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCT
GAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCACCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCT
Task1_train_28073
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; KCNQ2-related disorder
GAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCT
GAGGTGAGACCCCCTACCAGCACAAAGATTGCAACTCGCAGAAGGCTCAGGTGATTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCACCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCT
Task1_train_28074
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; Developmental and epileptic encephalopathy, 7
TTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACA
TTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCGAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACA
Task1_train_28075
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
TTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACA
TTGTTAGTATTTTTTTAGCAATTAAGTATTTGTAAGTGAAAGTACGTGCAGTGTTTTACTGTTTTTTAGACATAATGCTACTGCACACTTAGTAAGCTATGGCATGGTATAAACATAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGGGCTGTTTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAAGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGGGAGCCACGGTGCCCAGCCTGTAAACATAACTTCCATATGCACTGGGAAACCACGAAATTTGTGTGACTCGCTTTATTGCCGTATCTCTACCGTAGTGGTCTGGAACCACGGCTGCAGGTCCTCTGAGGTGCGCCTGTGGAGAGGCCCAGCTGTGCTCTGGAAATGTGCACCAGCTGCTAAGAGTGACCTTCGAGGGAAGCAGGGCGCATGGGACCCTGGGTGCTCAGACGCTGCTTTTTCTGGCACTATTGTAACCTTTTCACCACACGTACGTGGTCACTTTTTAAACCGTCAATAGTGGAGTGAGATTTGGGGGCATTTTGGTTCTTCTTAAAACTCTTGCCTGGAAATAAATAGCTGTTTGTAGTTTTTATAGTGGAAGATAAATACACACCTTAAGGTAGGCTGGACCCAGAGCCAAGACCACAAGAGGCACATCCCCTGCAGTGGCCACTGACACTCCGCGGCTTGTGGCCACGTCTCCAGTCTCCGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCTAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACA
Task1_train_28076
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
CGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACC
CGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTACAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACC
Task1_train_28077
A variant on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACC
CGCCTTTGTGGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTACAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACC
Task1_train_28078
This variant lies on Chromosome 20 and affects the gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGAT
GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCACGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGAT
Task1_train_28079
A variant on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; KCNQ2-related disorder
GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGAT
GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCACGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGAT
Task1_train_28080
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; Seizures, benign familial neonatal, 1
GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGAT
GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCACGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGAT
Task1_train_28081
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
GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGAT
GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCACGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGAT
Task1_train_28082
A genomic change on Chromosome 20 affects KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Developmental and epileptic encephalopathy, 7
GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGAT
GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCACGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGAT
Task1_train_28083
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; Autosomal recessive congenital ichthyosis 10
GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGAT
GGTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCACGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGAT
Task1_train_28084
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
GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATG
GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGGGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATG
Task1_train_28085
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
GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATG
GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGGGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATG
Task1_train_28086
Given this variant in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Developmental and epileptic encephalopathy, 7
GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATG
GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGTGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATG
Task1_train_28087
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; Inborn genetic diseases
GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATG
GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGTGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATG
Task1_train_28088
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
GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATG
GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGTGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATG
Task1_train_28089
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; Early infantile epileptic encephalopathy with suppression bursts
TCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGG
TCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCCAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGG
Task1_train_28090
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
GCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTG
GCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGCAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTG
Task1_train_28091
A variant on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; KCNQ2-related disorder
CCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCA
CCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACATCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCA
Task1_train_28092
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
CCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCA
CCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACATCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCA
Task1_train_28093
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; Seizure
CCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCA
CCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACATCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCA
Task1_train_28094
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; Epileptic encephalopathy
CCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAG
CCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACTGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAG
Task1_train_28095
A variant on Chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Developmental and epileptic encephalopathy, 7
CCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAG
CCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACTGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAG
Task1_train_28096
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
CCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAG
CCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACTGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAG
Task1_train_28097
Given this variant in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAG
CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCACAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAG
Task1_train_28098
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; Epileptic encephalopathy
CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAG
CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCACAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAG
Task1_train_28099
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; Seizure
CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAG
CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCACAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAG