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_1500
The variant affects gene GJA8 (gap junction protein alpha 8), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Cataract 1 multiple types
TGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGAT
TGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCATGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGAT
Task1_train_1501
Mutation context: Chromosome 1, Gene GJA8 (gap junction protein alpha 8). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Inborn genetic diseases
TGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGAT
TGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCATGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGAT
Task1_train_1502
Gene GJA8 (gap junction protein alpha 8) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Cataract 1 multiple types
GCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATT
GCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGAGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATT
Task1_train_1503
This mutation occurs in GJA8 (gap junction protein alpha 8) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Cataract 1 multiple types
TGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACA
TGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTCGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACA
Task1_train_1504
Given this context: Chromosome 1, gene GJA8 (gap junction protein alpha 8) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Cataract 1 multiple types
TGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACA
TGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTTGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACA
Task1_train_1505
This sequence variant lies in GJA8 (gap junction protein alpha 8) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Cataract 1 multiple types
GCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAG
GCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGTGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAG
Task1_train_1506
This alteration occurs within gene GJA8 (gap junction protein alpha 8) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Cataract 1 multiple types
TTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGT
TTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGAATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGT
Task1_train_1507
The gene GJA8 (gap junction protein alpha 8) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Cataract 1 multiple types
TTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGT
TTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGCATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGT
Task1_train_1508
Gene GJA8 (gap junction protein alpha 8) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Cataract 1 multiple types
GTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATG
GTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATAAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATG
Task1_train_1509
Here is a mutation in GJA8 (gap junction protein alpha 8) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Cataract 1 multiple types
CACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGC
CACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCAACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGC
Task1_train_1510
A genomic change on Chromosome 1 affects GJA8 (gap junction protein alpha 8). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Cataract 1 multiple types
CCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCT
CCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGAGTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCT
Task1_train_1511
A variant was discovered in gene GJA8 (gap junction protein alpha 8), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Cataract 1 multiple types
CAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAA
CAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCTTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAA
Task1_train_1512
A variant was discovered on Chromosome 1, affecting GJA8 (gap junction protein alpha 8). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Cataract 1 multiple types
GCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTA
GCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTGCGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTA
Task1_train_1513
Gene GJA8 (gap junction protein alpha 8), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Cataract 1 multiple types
TTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACA
TTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTTGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACA
Task1_train_1514
This is a variant in GJA8 (gap junction protein alpha 8), located on Chromosome 1. Is this mutation a likely cause of disease or not?
Pathogenic; Cataract 1 multiple types
TAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACAT
TAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCACCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACAT
Task1_train_1515
This gene mutation involves GJA8 (gap junction protein alpha 8) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; Cataract 1 multiple types
GTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAA
GTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCGCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAA
Task1_train_1516
Here is a mutation in GJA8 (gap junction protein alpha 8) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Cataract 1 multiple types
GTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAA
GTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCTCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAA
Task1_train_1517
This variant affects gene GJA8 (gap junction protein alpha 8) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Cataract 1 multiple types
GGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTG
GGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGAGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTG
Task1_train_1518
Gene GJA8 (gap junction protein alpha 8), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Cataract 1 multiple types
CTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATAT
CTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTAAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATAT
Task1_train_1519
Given a variant located on Chromosome 1 and affecting GJA8 (gap junction protein alpha 8), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Cataract 1 multiple types
TAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAA
TAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCTCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAA
Task1_train_1520
This sequence change occurs on Chromosome 1, altering GJA8 (gap junction protein alpha 8). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Cataract 1 multiple types
CAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTT
CAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCAGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTT
Task1_train_1521
The variant affects gene GJA8 (gap junction protein alpha 8), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Cataract 1 multiple types
GCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTT
GCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGTCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTT
Task1_train_1522
Gene GJA8 (gap junction protein alpha 8) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Cataract 1 multiple types
GTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAA
GTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGGGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAA
Task1_train_1523
Mutation context: Chromosome 1, Gene GJA8 (gap junction protein alpha 8). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Cataract 1 multiple types
AATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAAGCAAAGAAGATCCTTTCTTTATTCCCCTCTTGCAGCATCAGTGCTCAGCCTAAAATCTATACCTTTTTTCACTAGTGACTAGAAGCAAGCCCAGTTTCGAGCTGGAGGACATCTGCTCACAGGCATGTCCTGGGAAGAGGCAGCTCTCAGACATGATCAAAGGGCCATCAGGGTGGCACCAGAGGGAGCCTCTCACAAAGTGGGTGCTCACACAGCCAGGATCCC
AATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTTCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAAGCAAAGAAGATCCTTTCTTTATTCCCCTCTTGCAGCATCAGTGCTCAGCCTAAAATCTATACCTTTTTTCACTAGTGACTAGAAGCAAGCCCAGTTTCGAGCTGGAGGACATCTGCTCACAGGCATGTCCTGGGAAGAGGCAGCTCTCAGACATGATCAAAGGGCCATCAGGGTGGCACCAGAGGGAGCCTCTCACAAAGTGGGTGCTCACACAGCCAGGATCCC
Task1_train_1524
This variant affects gene GJA8 (gap junction protein alpha 8) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Cataract 1 multiple types
TTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAAGCAAAGAAGATCCTTTCTTTATTCCCCTCTTGCAGCATCAGTGCTCAGCCTAAAATCTATACCTTTTTTCACTAGTGACTAGAAGCAAGCCCAGTTTCGAGCTGGAGGACATCTGCTCACAGGCATGTCCTGGGAAGAGGCAGCTCTCAGACATGATCAAAGGGCCATCAGGGTGGCACCAGAGGGAGCCTCTCACAAAGTGGGTGCTCACACAGCCAGGATCCCAA
TTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCTACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAAGCAAAGAAGATCCTTTCTTTATTCCCCTCTTGCAGCATCAGTGCTCAGCCTAAAATCTATACCTTTTTTCACTAGTGACTAGAAGCAAGCCCAGTTTCGAGCTGGAGGACATCTGCTCACAGGCATGTCCTGGGAAGAGGCAGCTCTCAGACATGATCAAAGGGCCATCAGGGTGGCACCAGAGGGAGCCTCTCACAAAGTGGGTGCTCACACAGCCAGGATCCCAA
Task1_train_1525
Given this context: Chromosome 1, gene PDE4DIP (phosphodiesterase 4D interacting protein) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; See cases
AACTCTCAGAGATGGCATTTGGATGTCTTCAGGCTTAGGAGTATGGACTCTGTCCTGGGGATGAGGTTCAGAAAAACTTAGATGTTGCTGGCCTTAGCTTACAAGGTCAAGTTAGTAAAAATTTAGCATGATTAGAACTGGGAAATGTCCTGCTCTAGGGGACTGCAAGTGATTGCTGAGGTTGTTCCTCTTGTTACGTGTCTGAATGCCTCTCAAGCCAGGAAGATAATTCCTTATTAAAAATGGCCGGAGGTACCAGCATTCTACCTAGTCAGGGCTCCAGCTTCCCTCCTCTTTGTGTGCAATCTAAGTTTTGGACCCAAGGGTGGAGGACCTATCACTGTACAATGCTGAGTAAGACATGGTTTTCACCGAAGTCAGTGAAGTTCCCAGTCCTTTCTGGCGCGAGCTGCATTCCCAGACACTCCAGCTCTTACGGAAAGAAGCACTGTCTTTTGCGCTAGTGTTTGTCTACCGTCCCCTGTCCTAAAATAATGACTGCCCTCTACCTGAGGGAAAGGGACTTCAATGGTGGTAATCTACTCGCGGCTGGCTGCATCCTTAAAAAAGCCCATTTCTCTTCTACTATCTTCAAGATCTTGGTTAACCAGATTCACATTGTATGTGCCGGACTCTTTCTCAGGTGACTGCTCTGTGCTTTTTTATCTAAAGAAGGGCAAGTCACCCACGGGTACTAACCCTCCCCCACCCACATCAAGGGAGAAACACTCCTCTACTCTTTTCTGGACATTCCTGTTCAGAGTCGAGGTAAGGGTTGCACGGCCCCGCCCCTCCGTTACCAAGCCTTCCCTCGCCTGCCTCGCAGCCTCAGGCCCTTAGAACCCAGGCGGGGCGGGGCCGGGAAAGGTGAGGCTGCTGGCGGGAAGCGGGGGCGGCGCGCAGCGGTACCTAGCGGCGCTGCCCCGCTGGCAGCCGGAGGACGTGGCACTGTCCGAGAATGCAGGGAGGGGATTCGTCTTTCTCCTCCCCGCGAGGAGGAGCCTCGACATCCTGCAGAGGCGGGAGGATCCTTGAGGGCACTGGTGCGACTTTCAGGTGAGGTCTTAGCAGATGAAAGCGGCTGGCTGTGGCCCGCGCCAGTAGTGCTTTCTGCTCCGCACTCGCCGTGAGCCAGGTGTGCAACCGGATTTGGGGCGAGGGTCGCGCTGGCTACCTCGCATGCGCAGAGCCGGAAGCCCGCTGACCGGACTACAGCTCCCAGAAGAGCCTTGTGGAGGCCGCAGACGCGAAGCCGCTGGCGCCATCTTGAAATCTGATCCTCCATCCCCGAGGCTTTGCGTCTGCGCGGCCGGCCGCTGCTGCTCCGGGAGCCCAGTCTGCTAAAAGGGGAGGACGTTGAGGACGCGGCGGCTGGCGGGAGAGACAGCTGGGGAGAGACATGGCAGGGTCGGAGCGCGGCCTGCGCCTCTGTCACTCAGCATCCTCTTAGGCGTTTCCACGCCCGCCCCCTGCCCGAGGGGCGGGGCTGACGGCTCTGGTACCCGGAGTCGGCGCGCGGGGCAGGGGCGCGCCCCTGCAGAGTGGGGACCCCACTGGGCTGTGCCATGCTGACCGGAGACCACCGAGGCGGGAGACAGAGCGCGGCGAAGAGCCATTGAGTGGTCACCCAGTAGCCGCCGCCGCCGCCGCCTCGGGAAGCTTGCCACCCGCTAGGAGGGAAGATGAAGGAGATTTGCAGGATCTGTGCCCGAGAGCTGTGTGGAAACCAGCGGCGCTGGATCTTCCACACGGCGTCCAAGCTCAATCTCCAGGTTCTGCTTTCGCACGTCTTGGGCAAGGATGTCCCCCGCGATGGCAAAGCCGAGTTCGCTTGCAGCAAGTGTGCTTTCATGCTTGATCGAATCTATCGATTCGACACAGTTATTGCCCGGATTGAAGCGCTTTCTATTGAGCGCTTGCAAAAGCTGCTACTGGAGAAGGATCGCCTCAAGTTCTGCATTGCCAGTATGTATCGGAAGAATAACGATGACTCTGGCGCGGAGATCAAGGCGGGGAATGGGACGGTTGACATGTCCGTCTTACCCGATGCGAGATACTCTGCACTGCTCCAGGAGGACTTCGCCTATTCAGGGTTTGAGTGCTGGGTGGAGAATGAGGATCAGATCCAGGAGCCACACAGCTGCCATGGTTCAGAAGGCCCTGGAAACCGACCCAGGAGATGCCGTGGTTGTGCCGCTTTGCGGGTTGCTGATTCTGACTATGAAGCCATTTGTAAGGTACCTCGAAAGGTGGCCAGAAGTATCTCCTGCGGCCCTTCTAGCAGGTGGTCGACCAGCATTTGCACTGAAGAACCAGCGTTGTCTGAGGTTGGGCCACCCGACTTAGCAAGCACAAAGGTACCCCCAGATGGAGAAAGCATGGAGGAAGAGACGCCTGGTTCCTCTGTGGAATCTTTGGATGCAAGCGTCCAGGCTAGCCCTCCACAACAGAAAGATGAGGAGACTGAGAGAAGTGCAAAGGAACTTGGAAAGTGTGACTGTTGTTCAGATGATCAGGCTCCGCAGCATGGGTGTAATCACAAGCTGGAATTAGCTCTTAGCATGATTAAAGGTCTTGATTATAAGCCCATCCAGAGCCCCCGAGGGAGCAGGCTTCCGATTCCAGTGAAATCCAGCCTACCTGGAGCCAAGCCTGGCCCTAGCATGACAGATGGAGTTAGTTCCGGTTTCCTTAACAGGTCTTTGAAACCCCTTTACAAGACACCTGTGAGTTATCCCTTGGAGCTTTCAGACCTGCAGGAGCTGTGGGATGATCTCTGTGAAGATTATTTGCCGCTCCGGGTCCAGGTATACAAAACGGCTACATAGTGCCTTTCTGATTATAGCTAGCTGGCCTCTGGCTTCACGTGATTTCGGTCTAGGTGGAGGTTAGAAATATTCTGGACTTGAGAAAATTAGTCATGACCCCATTTTTGCTGCACCTTTTGCTCTGTCTCATTTAGTAAACGTGATTTGCACTCAGATAATTTGATTTTCACAATCCTTTTTGTAAAATCTGTTGACTTTCCCATTATCAAAATTGTATACCTTTTAAAACAAAAAGGTAAAGATTCCTACTTCACTTTTTTCCTATAAAAAGAAGACATTTAATCTCATTTCTGGCACTAGAACTTTTCCTCTTACCTCTTTTTTTTTTCCAACTTTTAAAATTTGTTCTTGTTTTCAGATTTATAGACGTTTCCTCCCAATGGTTTTCTGTAAGGCAGTTAGTTCTCTAGTTAGTTCTTCCTGGAGCATTAAAGCCTTCATCCGCAAAATGCCTGTAAATGATTAGAGCATAAGGTAAAAGGTTTGGGGAAAGCCTATTAATCCACCAGTAAAGTATTATAACATCTGGACCATATTAATTAGAATTAATAGTTCATTTGAGGATTAGTGATGACTCATTCATAAAAGAGACAGGAATTCAAGTATTCAAGTACAGTATTGTCAGTCAAAAGATTAAGGCATAAACTGTTCACAGCCAGAACTCTACTGAGTTCTACTGGAAGATATTTGATATTAAGAAAGGATTAACCCATTATTGGATCAGAGGAGAGTTTCATTCATTATAGTCTTGAATTCTTAATTGCTTAATTTGAGCTATTCGTGTCTGCCCAATTGATTCTGTACCAACCTTTTAAATTCAACTATGGTAGTTTGTTTCTATAGCAACAGTAAATGCTAGCTTCAATAAACTTTGTGAAACATTCTGGCATGTTCCACTTGATACAACTTATTTAACAATACTGTCACAAAGGTAGATGTGATCTAGAAGGCATTTTTTAGAAAGCCTGCTACTGGTCAACGTCATTCCAGAAATTTAGAGCTTGATAAGTGACATTGTTGATGGCCACTTGAAATTTTTGGAAAGTAGTTCTATGGTATGTATACTGTCTATCACAATAAGAACCTAAGCAGAAAACAGGAGAAAAGTTTTTAAATTTACACAAAATTATGAGAAGCAGCATAGATGAGAAACAGCATAGATGAAAGTGTCATGAAAGGTAAAAAGTCAGTGCATTTTCATTTTGTATAAAATGTTAAGCACTGTATGCTTAACACTGTGTACTTCTTTTCTTTTGCTTTTTCTTTCA
AACTCTCAGAGATGGCATTTGGATGTCTTCAGGCTTAGGAGTATGGACTCTGTCCTGGGGATGAGGTTCAGAAAAACTTAGATGTTGCTGGCCTTAGCTTACAAGGTCAAGTTAGTAAAAATTTAGCATGATTAGAACTGGGAAATGTCCTGCTCTAGGGGACTGCAAGTGATTGCTGAGGTTGTTCCTCTTGTTACGTGTCTGAATGCCTCTCAAGCCAGGAAGATAATTCCTTATTAAAAATGGCCGGAGGTACCAGCATTCTACCTAGTCAGGGCTCCAGCTTCCCTCCTCTTTGTGTGCAATCTAAGTTTTGGACCCAAGGGTGGAGGACCTATCACTGTACAATGCTGAGTAAGACATGGTTTTCACCGAAGTCAGTGAAGTTCCCAGTCCTTTCTGGCGCGAGCTGCATTCCCAGACACTCCAGCTCTTACGGAAAGAAGCACTGTCTTTTGCGCTAGTGTTTGTCTACCGTCCCCTGTCCTAAAATAATGACTGCCCTCTACCTGAGGGAAAGGGACTTCAATGGTGGTAATCTACTCGCGGCTGGCTGCATCCTTAAAAAAGCCCATTTCTCTTCTACTATCTTCAAGATCTTGGTTAACCAGATTCACATTGTATGTGCCGGACTCTTTCTCAGGTGACTGCTCTGTGCTTTTTTATCTAAAGAAGGGCAAGTCACCCACGGGTACTAACCCTCCCCCACCCACATCAAGGGAGAAACACTCCTCTACTCTTTTCTGGACATTCCTGTTCAGAGTCGAGGTAAGGGTTGCACGGCCCCGCCCCTCCGTTACCAAGCCTTCCCTCGCCTGCCTCGCAGCCTCAGGCCCTTAGAACCCAGGCGGGGCGGGGCCGGGAAAGGTGAGGCTGCTGGCGGGAAGCGGGGGCGGCGCGCAGCGGTACCTAGCGGCGCTGCCCCGCTGGCAGCCGGAGGACGTGGCACTGTCCGAGAATGCAGGGAGGGGATTCGTCTTTCTCCTCCCCGCGAGGAGGAGCCTCGACATCCTGCAGAGGCGGGAGGATCCTTGAGGGCACTGGTGCGACTTTCAGGTGAGGTCTTAGCAGATGAAAGCGGCTGGCTGTGGCCCGCGCCAGTAGTGCTTTCTGCTCCGCACTCGCCGTGAGCCAGGTGTGCAACCGGATTTGGGGCGAGGGTCGCGCTGGCTACCTCGCATGCGCAGAGCCGGAAGCCCGCTGACCGGACTACAGCTCCCAGAAGAGCCTTGTGGAGGCCGCAGACGCGAAGCCGCTGGCGCCATCTTGAAATCTGATCCTCCATCCCCGAGGCTTTGCGTCTGCGCGGCCGGCCGCTGCTGCTCCGGGAGCCCAGTCTGCTAAAAGGGGAGGACGTTGAGGACGCGGCGGCTGGCGGGAGAGACAGCTGGGGAGAGACATGGCAGGGTCGGAGCGCGGCCTGCGCCTCTGTCACTCAGCATCCTCTTAGGCGTTTCCACGCCCGCCCCCTGCCCGAGGGGCGGGGCTGACGGCTCTGGTACCCGGAGTCGGCGCGCGGGGCAGGGGCGCGCCCCTGCAGAGTGGGGACCCCACTGGGCTGTGCCATGCTGACCGGAGACCACCGAGGCGGGAGACAGAGCGCGGCGAAGAGCCATTGAGTGGTCACCCAGTAGCCGCCGCCGCCGCCGCCTCGGGAAGCTTGCCACCCGCTAGGAGGGAAGATGAAGGAGATTTGCAGGATCTGTGCCCGAGAGCTGTGTGGAAACCAGCGGCGCTGGATCTTCCACACGGCGTCCAAGCTCAATCTCCAGGTTCTGCTTTCGCACGTCTTGGGCAAGGATGTCCCCCGCGATGGCAAAGCCGAGTTCGCTTGCAGCAAGTGTGCTTTCATGCTTGATCGAATCTATCGATTCGACACAGTTATTGCCCGGATTGAAGCGCTTTCTATTGAGCGCTTGCAAAAGCTGCTACTGGAGAAGGATCGCCTCAAGTTCTGCATTGCCAGTATGTATCGGAAGAATAACGATGACTCTGGCGCGGAGATCAAGGCGGGGAATGGGACGGTTGACATGTCCGTCTTACCCGATACGAGATACTCTGCACTGCTCCAGGAGGACTTCGCCTATTCAGGGTTTGAGTGCTGGGTGGAGAATGAGGATCAGATCCAGGAGCCACACAGCTGCCATGGTTCAGAAGGCCCTGGAAACCGACCCAGGAGATGCCGTGGTTGTGCCGCTTTGCGGGTTGCTGATTCTGACTATGAAGCCATTTGTAAGGTACCTCGAAAGGTGGCCAGAAGTATCTCCTGCGGCCCTTCTAGCAGGTGGTCGACCAGCATTTGCACTGAAGAACCAGCGTTGTCTGAGGTTGGGCCACCCGACTTAGCAAGCACAAAGGTACCCCCAGATGGAGAAAGCATGGAGGAAGAGACGCCTGGTTCCTCTGTGGAATCTTTGGATGCAAGCGTCCAGGCTAGCCCTCCACAACAGAAAGATGAGGAGACTGAGAGAAGTGCAAAGGAACTTGGAAAGTGTGACTGTTGTTCAGATGATCAGGCTCCGCAGCATGGGTGTAATCACAAGCTGGAATTAGCTCTTAGCATGATTAAAGGTCTTGATTATAAGCCCATCCAGAGCCCCCGAGGGAGCAGGCTTCCGATTCCAGTGAAATCCAGCCTACCTGGAGCCAAGCCTGGCCCTAGCATGACAGATGGAGTTAGTTCCGGTTTCCTTAACAGGTCTTTGAAACCCCTTTACAAGACACCTGTGAGTTATCCCTTGGAGCTTTCAGACCTGCAGGAGCTGTGGGATGATCTCTGTGAAGATTATTTGCCGCTCCGGGTCCAGGTATACAAAACGGCTACATAGTGCCTTTCTGATTATAGCTAGCTGGCCTCTGGCTTCACGTGATTTCGGTCTAGGTGGAGGTTAGAAATATTCTGGACTTGAGAAAATTAGTCATGACCCCATTTTTGCTGCACCTTTTGCTCTGTCTCATTTAGTAAACGTGATTTGCACTCAGATAATTTGATTTTCACAATCCTTTTTGTAAAATCTGTTGACTTTCCCATTATCAAAATTGTATACCTTTTAAAACAAAAAGGTAAAGATTCCTACTTCACTTTTTTCCTATAAAAAGAAGACATTTAATCTCATTTCTGGCACTAGAACTTTTCCTCTTACCTCTTTTTTTTTTCCAACTTTTAAAATTTGTTCTTGTTTTCAGATTTATAGACGTTTCCTCCCAATGGTTTTCTGTAAGGCAGTTAGTTCTCTAGTTAGTTCTTCCTGGAGCATTAAAGCCTTCATCCGCAAAATGCCTGTAAATGATTAGAGCATAAGGTAAAAGGTTTGGGGAAAGCCTATTAATCCACCAGTAAAGTATTATAACATCTGGACCATATTAATTAGAATTAATAGTTCATTTGAGGATTAGTGATGACTCATTCATAAAAGAGACAGGAATTCAAGTATTCAAGTACAGTATTGTCAGTCAAAAGATTAAGGCATAAACTGTTCACAGCCAGAACTCTACTGAGTTCTACTGGAAGATATTTGATATTAAGAAAGGATTAACCCATTATTGGATCAGAGGAGAGTTTCATTCATTATAGTCTTGAATTCTTAATTGCTTAATTTGAGCTATTCGTGTCTGCCCAATTGATTCTGTACCAACCTTTTAAATTCAACTATGGTAGTTTGTTTCTATAGCAACAGTAAATGCTAGCTTCAATAAACTTTGTGAAACATTCTGGCATGTTCCACTTGATACAACTTATTTAACAATACTGTCACAAAGGTAGATGTGATCTAGAAGGCATTTTTTAGAAAGCCTGCTACTGGTCAACGTCATTCCAGAAATTTAGAGCTTGATAAGTGACATTGTTGATGGCCACTTGAAATTTTTGGAAAGTAGTTCTATGGTATGTATACTGTCTATCACAATAAGAACCTAAGCAGAAAACAGGAGAAAAGTTTTTAAATTTACACAAAATTATGAGAAGCAGCATAGATGAGAAACAGCATAGATGAAAGTGTCATGAAAGGTAAAAAGTCAGTGCATTTTCATTTTGTATAAAATGTTAAGCACTGTATGCTTAACACTGTGTACTTCTTTTCTTTTGCTTTTTCTTTCA
Task1_train_1526
This variant impacts the gene LOC129931382, SF3B4 (ATAC-STARR-seq lymphoblastoid active region 1665| splicing factor 3b subunit 4) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
Pathogenic; Nager syndrome
TAGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCAGGAGGAGGCATGCCTATAGAGGAAATGGAAAAAGGAAGAGTTAATGGTAGTGAGGAGAAAATGTCTTTAAAGAGCCTGTCCTGATCTGGCCTCTCCAGGCAGGGTGAGCTCTTTCCCCCTCCTCCCAGTGCTCTAAAATCAAAAGCAATGTTAGAAAAGTCAACCAACTTCACCCTCCTAAAGAAACCCAACAACTTTCTTCTTCACCACTACCATCACCCCTCAGTCCTCTTCCCATCAACTCACTGACTCAATGTCCCCTGTCCCCCTTTCAGACTTGTTTTCTTCTTCCTCCTGACCCTCTCCCCCAACCTTAAGACAAACATATTTTAACCAAAAGCTTTACCTGGTGGAGGAAGCCCAGACCCCAATGATGATACCACAGGATTGGGAGCAGAGGGTGGAGGAGGTGCATCTGCAAACAGCTGATGAGGGCGATCAGCCTGGGAGAGCGGGTTCTGAGCTGCCAGAAGTCGTTCGGCTGCTGAGCCATGGCGCTCACCCTTGGAGTCCTTCTTGAAGGCATAAGATACGGTGATAGGACGGTTACAGAGGTACTGCCCATTCATGGCTTCAATTGCTGCATCCGAAGCATCAAATGAAGCAAAATTAATAAAGGCATAACCTTTGGAGTTGCCTGTGTCAGGGTCCCGCATAATTTTGGGGGTTTGTAAGATGACCCCAAAGGCGCTGAAAGTATCATAAAGCAACTTCTCATCAATCTCAGGGTCCAGGTTCCCAATGAAAATGTTGGCCCCTACATCCAGGTTTTTGTTGTGAGCTGATGCTTTGTTCACCCGTATTGGCTTCCCATAGAGTTTGATCATGTTCATGATCTTAATGGCATAGTCAGCATCTTCCTCACTCAAGAATTCCACAAAGCCATAGCCTGGAAAAGTGGAGAAGAGGAGGTTAACAACGTAAGTAAAGAGACTGAAAATGGGGTAAAATTCATCTACCCTCTAATCACAAAGAACAAGAAAGAAACAACATCACTTTACTTAAGAATGGTTCCAGAAATAAACTGAAGAGAGGCTTAAAAGAAAAAAATCTTTAGGTTGCTCATGTTATTCCAAAACAGTTGTGAATACTGCTGGGACCCTCCGGGAGCAATTCGCCCCTTGTCATGTACTCACCTTGGTGCTGGCCAGTGACTCTATCCTTTGGCATGTGGGTGTTGACTACTGGTCCAGCCTGGAGAAACAGTTCCCACAGCAGCGGTTCACTAACCTTCTCATCCAGGCCCCCCACGTACACAGTGGCATCTTGAAGGGAGGGAGCAAAAAGAGCAAGCGTGAGAGTGTAACGGGAAGGAAGGAAGTGATGGAAACATGAAGATGGAACCCAACCAGGGGAACTGGGGACCGCGGTAGGGGACAGGAGCAAAAAAAAAAGTTTAAACCCTTAAACTTCTCTCTTCCCAGGACTTCGGGAATCCTCTGAAGTCTAATTTAGTATTGTGAGTGGGTTTTTTTGATTTTTTGAGTGAGAAGTCAGCAGGGGACCGGACTTAAGTATCACACCCAGAGGCCTCAGCCAGCACCCGGCCACCCCGCCCCCAACAGGCAGAGGGCCGGTCTCGCGCCCTCTGGGGAAGGGAGGAGTCCAGTCTCCCACCCCTGCAGAGACACTGCTGGCTGTAGTCGGGGCCTCCTAGCCACGCTGAGCCCATTCCAGACTTTCCCCCTCCAGTTACCCTGATTCCGCTCGGAGATCGGCCCGGCAGCCATGGCGAAAGAGATCCCGCCGTCTCCCAGCAGCGGTTCCGCCTTCTGACCTCAGCACGACTTCCACTTCCGGGGCGAAGACGGACGTAGCGGTGGGCGGGGCCGCGGAAGAGGAGGTGCCTGGAAGCGGCTGCAGCCATCTTAGGAGCCTCCGAAACTTAACCTGGGTCGGGCGGTAGAGTCCTCGGCTCGCGTCCTGAGGTGCCGCTGCTAGTTGTCTTAGCGAGGAGGGCGGAACGGAAACGCTCAGGCCCTCTTAATGCACTGCTAGACTTGAAAGAATCACACTGCTCTCAAAAGTGTAAATTCGAAAGCTAAAAGAACAAAAATTTCAGTTTTAATATATTTTGTGGACAGTGATTCTTCTTCTGTTGTCCAGAGAAGGATGTGCTGAAGAGTTCCCCCCAACCCGAGGACTTGGGGGCTTTCAGGCGCAGAGGGAGCCTTCCCTCTCGCCTGCAGCCTTCTTGCAGATTTGGCCTCACAACCCTGATTTGGGCTGGAGGTATTTGGTTTTCCCTCAGGGGAGGAGACTGCGAAATGTCTGAGCTTAGAGTGACGTCTGCGCTCACCTCGTCCTAATTGCATGGGGAGGGTGAGGGCTGCTCCGCGTTGGTGTGTGACCACAGCTGAGGGGTGGATGGGATCGGAGCTCTAGAGTCTGGATCTCTAGAACACTCTGGCCCCATCTGCCTCTAAATGGGAGACACACACAAGAGAACCCTTTCCCCAAATTGCACTTGAATTTTGCAGAGCCTCACCAAACCCAGTTCCCCTATTTCCTTAGCAATAATATGGTGGATGCCTTCCTCTCTTGGGTCATACACCCCTTTTACCCACCACTTTCCTACCTAGGAGAATCCTTTATTCAAACACAAGAAACAATGCCAGCAATGTGTATAAATACTATGCTTTAATGAGCCCCTTAAATAGAAATTCCACTACAAAAATACAGAGGAGATAGGGTGTTTCCTGTATCCGCCTCATTCCCATAGAAAACTATAAGGGAAGAAATAGAACTTGGAATTAAAGCAGCAGCAAGGCGAGGTGAGAATGCGATTTCTAGGCCATCTTGTTGGGACTGATGAACAGCATCTCTGATCTCATGATTTAACATCTGGTTATCCAGAAGGGATGGGATTGGCCTAAAAAAACCGATCAATTTCTGGATTGTTTTTGTTTCTTAATCCTTCAAATGACAAGAAGCAAAAATATTTGTAGAAACTAAGCAAGACAAGAGTTGGAGCAGTTAACACCACTATCTGCAGCAGAAACTCAGACCTTCTTAGTGAACTTAAGGGCTGAAGTGTGAAAGCTGAGGCTGCAAGTGCAGATACAAAAAAAAAAAAAAAAGATTAGACAGAACCCTCCTCTACCCCAGATCCCCCTCTGCCCTGCCTTTGAGAATGCCAGCAATTTCAGTGGGATTGAGAATGGTATGTGGATCTCTTTTCTTGGAGTGATCCTCAGGAGATATTCTTGGTGTCCATTTCCGTAATAACTCCTGAAGATGGGATAGCTCATCCTGGAGGCCAGAGATTGTGGGAGCTGAGAGGCCCATCTGGGGAGGAGGCAAAGAGGAACAGAGAAGAATACTGTTGTAGCTCTGGCCCCCTGCTTCTCTGCTACTTCTGGTGTCTTTAATTCTGTTTCCCCTTTCAGCTATGCCCTAAATTCCACTTAATCTAAGCCACAAGCACTTTCCCGCACCTCCTACACTCCCAAACCTTGTTTGATGCCAAGAGGAGTAGAACTTCACTTCCCAGACTCCCAGAGGCTTCAGCTCCTTGCCTTTCCAGCTCCTGTTCATCTGGTTCAGCAGAGTCAAGTCCCTTGTCCCACTCCCAGTCTATTTTCCCTTCTTACCTGGACCTCAGGCCTTCCCCTCAGGTAGCAGCGTCTCCAGAGCCTGATCTGGGGTCCCAGATACCCAGGCAGCAGCAGCCCTGGAGGTAAAGGGCAAGCTCCCCAATGTGAGGGGAGACCCCATTCCTGGTCAGCCAGGCTTTCAGAGGAGATAGCAGGTCGAGGGAGCCAACGAGAAGAGAC
TAGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCAGGAGGAGGCATGCCTATAGAGGAAATGGAAAAAGGAAGAGTTAATGGTAGTGAGGAGAAAATGTCTTTAAAGAGCCTGTCCTGATCTGGCCTCTCCAGGCAGGGTGAGCTCTTTCCCCCTCCTCCCAGTGCTCTAAAATCAAAAGCAATGTTAGAAAAGTCAACCAACTTCACCCTCCTAAAGAAACCCAACAACTTTCTTCTTCACCACTACCATCACCCCTCAGTCCTCTTCCCATCAACTCACTGACTCAATGTCCCCTGTCCCCCTTTCAGACTTGTTTTCTTCTTCCTCCTGACCCTCTCCCCCAACCTTAAGACAAACATATTTTAACCAAAAGCTTTACCTGGTGGAGGAAGCCCAGACCCCAATGATGATACCACAGGATTGGGAGCAGAGGGTGGAGGAGGTGCATCTGCAAACAGCTGATGAGGGCGATCAGCCTGGGAGAGCGGGTTCTGAGCTGCCAGAAGTCGTTCGGCTGCTGAGCCATGGCGCTCACCCTTGGAGTCCTTCTTGAAGGCATAAGATACGGTGATAGGACGGTTACAGAGGTACTGCCCATTCATGGCTTCAATTGCTGCATCCGAAGCATCAAATGAAGCAAAATTAATAAAGGCATAACCTTTGGAGTTGCCTGTGTCAGGGTCCCGCATAATTTTGGGGGTTTGTAAGATGACCCCAAAGGCGCTGAAAGTATCATAAAGCAACTTCTCATCAATCTCAGGGTCCAGGTTCCCAATGAAAATGTTGGCCCCTACATCCAGGTTTTTGTTGTGAGCTGATGCTTTGTTCACCCGTATTGGCTTCCCATAGAGTTTGATCATGTTCATGATCTTAATGGCATAGTCAGCATCTTCCTCACTCAAGAATTCCACAAAGCCATAGCCTGGAAAAGTGGAGAAGAGGAGGTTAACAACGTAAGTAAAGAGACTGAAAATGGGGTAAAATTCATCTACCCTCTAATCACAAAGAACAAGAAAGAAACAACATCACTTTACTTAAGAATGGTTCCAGAAATAAACTGAAGAGAGGCTTAAAAGAAAAAAATCTTTAGGTTGCTCATGTTATTCCAAAACAGTTGTGAATACTGCTGGGACCCTCCGGGAGCAATTCGCCCCTTGTCATGTACTCACCTTGGTGCTGGCCAGTGACTCTATCCTTTGGCATGTGGGTGTTGACTACTGGTCCAGCCTGGAGAAACAGTTCCCACAGCAGCGGTTCACTAACCTTCTCATCCAGGCCCCCCACGTACACAGTGGCATCTTGAAGGGAGGGAGCAAAAAGAGCAAGCGTGAGAGTGTAACGGGAAGGAAGGAAGTGATGGAAACATGAAGATGGAACCCAACCAGGGGAACTGGGGACCGCGGTAGGGGACAGGAGCAAAAAAAAAAGTTTAAACCCTTAAACTTCTCTCTTCCCAGGACTTCGGGAATCCTCTGAAGTCTAATTTAGTATTGTGAGTGGGTTTTTTTGATTTTTTGAGTGAGAAGTCAGCAGGGGACCGGACTTAAGTATCACACCCAGAGGCCTCAGCCAGCACCCGGCCACCCCGCCCCCAACAGGCAGAGGGCCGGTCTCGCGCCCTCTGGGGAAGGGAGGAGTCCAGTCTCCCACCCCTGCAGAGACACTGCTGGCTGTAGTCGGGGCCTCCTAGCCACGCTGAGCCCATTCCAGACTTTCCCCCTCCAGTTACCCTGATTCCGCTCGGAGATCGGCCCGGCAGCCGTGGCGAAAGAGATCCCGCCGTCTCCCAGCAGCGGTTCCGCCTTCTGACCTCAGCACGACTTCCACTTCCGGGGCGAAGACGGACGTAGCGGTGGGCGGGGCCGCGGAAGAGGAGGTGCCTGGAAGCGGCTGCAGCCATCTTAGGAGCCTCCGAAACTTAACCTGGGTCGGGCGGTAGAGTCCTCGGCTCGCGTCCTGAGGTGCCGCTGCTAGTTGTCTTAGCGAGGAGGGCGGAACGGAAACGCTCAGGCCCTCTTAATGCACTGCTAGACTTGAAAGAATCACACTGCTCTCAAAAGTGTAAATTCGAAAGCTAAAAGAACAAAAATTTCAGTTTTAATATATTTTGTGGACAGTGATTCTTCTTCTGTTGTCCAGAGAAGGATGTGCTGAAGAGTTCCCCCCAACCCGAGGACTTGGGGGCTTTCAGGCGCAGAGGGAGCCTTCCCTCTCGCCTGCAGCCTTCTTGCAGATTTGGCCTCACAACCCTGATTTGGGCTGGAGGTATTTGGTTTTCCCTCAGGGGAGGAGACTGCGAAATGTCTGAGCTTAGAGTGACGTCTGCGCTCACCTCGTCCTAATTGCATGGGGAGGGTGAGGGCTGCTCCGCGTTGGTGTGTGACCACAGCTGAGGGGTGGATGGGATCGGAGCTCTAGAGTCTGGATCTCTAGAACACTCTGGCCCCATCTGCCTCTAAATGGGAGACACACACAAGAGAACCCTTTCCCCAAATTGCACTTGAATTTTGCAGAGCCTCACCAAACCCAGTTCCCCTATTTCCTTAGCAATAATATGGTGGATGCCTTCCTCTCTTGGGTCATACACCCCTTTTACCCACCACTTTCCTACCTAGGAGAATCCTTTATTCAAACACAAGAAACAATGCCAGCAATGTGTATAAATACTATGCTTTAATGAGCCCCTTAAATAGAAATTCCACTACAAAAATACAGAGGAGATAGGGTGTTTCCTGTATCCGCCTCATTCCCATAGAAAACTATAAGGGAAGAAATAGAACTTGGAATTAAAGCAGCAGCAAGGCGAGGTGAGAATGCGATTTCTAGGCCATCTTGTTGGGACTGATGAACAGCATCTCTGATCTCATGATTTAACATCTGGTTATCCAGAAGGGATGGGATTGGCCTAAAAAAACCGATCAATTTCTGGATTGTTTTTGTTTCTTAATCCTTCAAATGACAAGAAGCAAAAATATTTGTAGAAACTAAGCAAGACAAGAGTTGGAGCAGTTAACACCACTATCTGCAGCAGAAACTCAGACCTTCTTAGTGAACTTAAGGGCTGAAGTGTGAAAGCTGAGGCTGCAAGTGCAGATACAAAAAAAAAAAAAAAAGATTAGACAGAACCCTCCTCTACCCCAGATCCCCCTCTGCCCTGCCTTTGAGAATGCCAGCAATTTCAGTGGGATTGAGAATGGTATGTGGATCTCTTTTCTTGGAGTGATCCTCAGGAGATATTCTTGGTGTCCATTTCCGTAATAACTCCTGAAGATGGGATAGCTCATCCTGGAGGCCAGAGATTGTGGGAGCTGAGAGGCCCATCTGGGGAGGAGGCAAAGAGGAACAGAGAAGAATACTGTTGTAGCTCTGGCCCCCTGCTTCTCTGCTACTTCTGGTGTCTTTAATTCTGTTTCCCCTTTCAGCTATGCCCTAAATTCCACTTAATCTAAGCCACAAGCACTTTCCCGCACCTCCTACACTCCCAAACCTTGTTTGATGCCAAGAGGAGTAGAACTTCACTTCCCAGACTCCCAGAGGCTTCAGCTCCTTGCCTTTCCAGCTCCTGTTCATCTGGTTCAGCAGAGTCAAGTCCCTTGTCCCACTCCCAGTCTATTTTCCCTTCTTACCTGGACCTCAGGCCTTCCCCTCAGGTAGCAGCGTCTCCAGAGCCTGATCTGGGGTCCCAGATACCCAGGCAGCAGCAGCCCTGGAGGTAAAGGGCAAGCTCCCCAATGTGAGGGGAGACCCCATTCCTGGTCAGCCAGGCTTTCAGAGGAGATAGCAGGTCGAGGGAGCCAACGAGAAGAGAC
Task1_train_1527
The gene LOC129931382, SF3B4 (ATAC-STARR-seq lymphoblastoid active region 1665| splicing factor 3b subunit 4) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; not provided
AGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCAGGAGGAGGCATGCCTATAGAGGAAATGGAAAAAGGAAGAGTTAATGGTAGTGAGGAGAAAATGTCTTTAAAGAGCCTGTCCTGATCTGGCCTCTCCAGGCAGGGTGAGCTCTTTCCCCCTCCTCCCAGTGCTCTAAAATCAAAAGCAATGTTAGAAAAGTCAACCAACTTCACCCTCCTAAAGAAACCCAACAACTTTCTTCTTCACCACTACCATCACCCCTCAGTCCTCTTCCCATCAACTCACTGACTCAATGTCCCCTGTCCCCCTTTCAGACTTGTTTTCTTCTTCCTCCTGACCCTCTCCCCCAACCTTAAGACAAACATATTTTAACCAAAAGCTTTACCTGGTGGAGGAAGCCCAGACCCCAATGATGATACCACAGGATTGGGAGCAGAGGGTGGAGGAGGTGCATCTGCAAACAGCTGATGAGGGCGATCAGCCTGGGAGAGCGGGTTCTGAGCTGCCAGAAGTCGTTCGGCTGCTGAGCCATGGCGCTCACCCTTGGAGTCCTTCTTGAAGGCATAAGATACGGTGATAGGACGGTTACAGAGGTACTGCCCATTCATGGCTTCAATTGCTGCATCCGAAGCATCAAATGAAGCAAAATTAATAAAGGCATAACCTTTGGAGTTGCCTGTGTCAGGGTCCCGCATAATTTTGGGGGTTTGTAAGATGACCCCAAAGGCGCTGAAAGTATCATAAAGCAACTTCTCATCAATCTCAGGGTCCAGGTTCCCAATGAAAATGTTGGCCCCTACATCCAGGTTTTTGTTGTGAGCTGATGCTTTGTTCACCCGTATTGGCTTCCCATAGAGTTTGATCATGTTCATGATCTTAATGGCATAGTCAGCATCTTCCTCACTCAAGAATTCCACAAAGCCATAGCCTGGAAAAGTGGAGAAGAGGAGGTTAACAACGTAAGTAAAGAGACTGAAAATGGGGTAAAATTCATCTACCCTCTAATCACAAAGAACAAGAAAGAAACAACATCACTTTACTTAAGAATGGTTCCAGAAATAAACTGAAGAGAGGCTTAAAAGAAAAAAATCTTTAGGTTGCTCATGTTATTCCAAAACAGTTGTGAATACTGCTGGGACCCTCCGGGAGCAATTCGCCCCTTGTCATGTACTCACCTTGGTGCTGGCCAGTGACTCTATCCTTTGGCATGTGGGTGTTGACTACTGGTCCAGCCTGGAGAAACAGTTCCCACAGCAGCGGTTCACTAACCTTCTCATCCAGGCCCCCCACGTACACAGTGGCATCTTGAAGGGAGGGAGCAAAAAGAGCAAGCGTGAGAGTGTAACGGGAAGGAAGGAAGTGATGGAAACATGAAGATGGAACCCAACCAGGGGAACTGGGGACCGCGGTAGGGGACAGGAGCAAAAAAAAAAGTTTAAACCCTTAAACTTCTCTCTTCCCAGGACTTCGGGAATCCTCTGAAGTCTAATTTAGTATTGTGAGTGGGTTTTTTTGATTTTTTGAGTGAGAAGTCAGCAGGGGACCGGACTTAAGTATCACACCCAGAGGCCTCAGCCAGCACCCGGCCACCCCGCCCCCAACAGGCAGAGGGCCGGTCTCGCGCCCTCTGGGGAAGGGAGGAGTCCAGTCTCCCACCCCTGCAGAGACACTGCTGGCTGTAGTCGGGGCCTCCTAGCCACGCTGAGCCCATTCCAGACTTTCCCCCTCCAGTTACCCTGATTCCGCTCGGAGATCGGCCCGGCAGCCATGGCGAAAGAGATCCCGCCGTCTCCCAGCAGCGGTTCCGCCTTCTGACCTCAGCACGACTTCCACTTCCGGGGCGAAGACGGACGTAGCGGTGGGCGGGGCCGCGGAAGAGGAGGTGCCTGGAAGCGGCTGCAGCCATCTTAGGAGCCTCCGAAACTTAACCTGGGTCGGGCGGTAGAGTCCTCGGCTCGCGTCCTGAGGTGCCGCTGCTAGTTGTCTTAGCGAGGAGGGCGGAACGGAAACGCTCAGGCCCTCTTAATGCACTGCTAGACTTGAAAGAATCACACTGCTCTCAAAAGTGTAAATTCGAAAGCTAAAAGAACAAAAATTTCAGTTTTAATATATTTTGTGGACAGTGATTCTTCTTCTGTTGTCCAGAGAAGGATGTGCTGAAGAGTTCCCCCCAACCCGAGGACTTGGGGGCTTTCAGGCGCAGAGGGAGCCTTCCCTCTCGCCTGCAGCCTTCTTGCAGATTTGGCCTCACAACCCTGATTTGGGCTGGAGGTATTTGGTTTTCCCTCAGGGGAGGAGACTGCGAAATGTCTGAGCTTAGAGTGACGTCTGCGCTCACCTCGTCCTAATTGCATGGGGAGGGTGAGGGCTGCTCCGCGTTGGTGTGTGACCACAGCTGAGGGGTGGATGGGATCGGAGCTCTAGAGTCTGGATCTCTAGAACACTCTGGCCCCATCTGCCTCTAAATGGGAGACACACACAAGAGAACCCTTTCCCCAAATTGCACTTGAATTTTGCAGAGCCTCACCAAACCCAGTTCCCCTATTTCCTTAGCAATAATATGGTGGATGCCTTCCTCTCTTGGGTCATACACCCCTTTTACCCACCACTTTCCTACCTAGGAGAATCCTTTATTCAAACACAAGAAACAATGCCAGCAATGTGTATAAATACTATGCTTTAATGAGCCCCTTAAATAGAAATTCCACTACAAAAATACAGAGGAGATAGGGTGTTTCCTGTATCCGCCTCATTCCCATAGAAAACTATAAGGGAAGAAATAGAACTTGGAATTAAAGCAGCAGCAAGGCGAGGTGAGAATGCGATTTCTAGGCCATCTTGTTGGGACTGATGAACAGCATCTCTGATCTCATGATTTAACATCTGGTTATCCAGAAGGGATGGGATTGGCCTAAAAAAACCGATCAATTTCTGGATTGTTTTTGTTTCTTAATCCTTCAAATGACAAGAAGCAAAAATATTTGTAGAAACTAAGCAAGACAAGAGTTGGAGCAGTTAACACCACTATCTGCAGCAGAAACTCAGACCTTCTTAGTGAACTTAAGGGCTGAAGTGTGAAAGCTGAGGCTGCAAGTGCAGATACAAAAAAAAAAAAAAAAGATTAGACAGAACCCTCCTCTACCCCAGATCCCCCTCTGCCCTGCCTTTGAGAATGCCAGCAATTTCAGTGGGATTGAGAATGGTATGTGGATCTCTTTTCTTGGAGTGATCCTCAGGAGATATTCTTGGTGTCCATTTCCGTAATAACTCCTGAAGATGGGATAGCTCATCCTGGAGGCCAGAGATTGTGGGAGCTGAGAGGCCCATCTGGGGAGGAGGCAAAGAGGAACAGAGAAGAATACTGTTGTAGCTCTGGCCCCCTGCTTCTCTGCTACTTCTGGTGTCTTTAATTCTGTTTCCCCTTTCAGCTATGCCCTAAATTCCACTTAATCTAAGCCACAAGCACTTTCCCGCACCTCCTACACTCCCAAACCTTGTTTGATGCCAAGAGGAGTAGAACTTCACTTCCCAGACTCCCAGAGGCTTCAGCTCCTTGCCTTTCCAGCTCCTGTTCATCTGGTTCAGCAGAGTCAAGTCCCTTGTCCCACTCCCAGTCTATTTTCCCTTCTTACCTGGACCTCAGGCCTTCCCCTCAGGTAGCAGCGTCTCCAGAGCCTGATCTGGGGTCCCAGATACCCAGGCAGCAGCAGCCCTGGAGGTAAAGGGCAAGCTCCCCAATGTGAGGGGAGACCCCATTCCTGGTCAGCCAGGCTTTCAGAGGAGATAGCAGGTCGAGGGAGCCAACGAGAAGAGACT
AGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCAGGAGGAGGCATGCCTATAGAGGAAATGGAAAAAGGAAGAGTTAATGGTAGTGAGGAGAAAATGTCTTTAAAGAGCCTGTCCTGATCTGGCCTCTCCAGGCAGGGTGAGCTCTTTCCCCCTCCTCCCAGTGCTCTAAAATCAAAAGCAATGTTAGAAAAGTCAACCAACTTCACCCTCCTAAAGAAACCCAACAACTTTCTTCTTCACCACTACCATCACCCCTCAGTCCTCTTCCCATCAACTCACTGACTCAATGTCCCCTGTCCCCCTTTCAGACTTGTTTTCTTCTTCCTCCTGACCCTCTCCCCCAACCTTAAGACAAACATATTTTAACCAAAAGCTTTACCTGGTGGAGGAAGCCCAGACCCCAATGATGATACCACAGGATTGGGAGCAGAGGGTGGAGGAGGTGCATCTGCAAACAGCTGATGAGGGCGATCAGCCTGGGAGAGCGGGTTCTGAGCTGCCAGAAGTCGTTCGGCTGCTGAGCCATGGCGCTCACCCTTGGAGTCCTTCTTGAAGGCATAAGATACGGTGATAGGACGGTTACAGAGGTACTGCCCATTCATGGCTTCAATTGCTGCATCCGAAGCATCAAATGAAGCAAAATTAATAAAGGCATAACCTTTGGAGTTGCCTGTGTCAGGGTCCCGCATAATTTTGGGGGTTTGTAAGATGACCCCAAAGGCGCTGAAAGTATCATAAAGCAACTTCTCATCAATCTCAGGGTCCAGGTTCCCAATGAAAATGTTGGCCCCTACATCCAGGTTTTTGTTGTGAGCTGATGCTTTGTTCACCCGTATTGGCTTCCCATAGAGTTTGATCATGTTCATGATCTTAATGGCATAGTCAGCATCTTCCTCACTCAAGAATTCCACAAAGCCATAGCCTGGAAAAGTGGAGAAGAGGAGGTTAACAACGTAAGTAAAGAGACTGAAAATGGGGTAAAATTCATCTACCCTCTAATCACAAAGAACAAGAAAGAAACAACATCACTTTACTTAAGAATGGTTCCAGAAATAAACTGAAGAGAGGCTTAAAAGAAAAAAATCTTTAGGTTGCTCATGTTATTCCAAAACAGTTGTGAATACTGCTGGGACCCTCCGGGAGCAATTCGCCCCTTGTCATGTACTCACCTTGGTGCTGGCCAGTGACTCTATCCTTTGGCATGTGGGTGTTGACTACTGGTCCAGCCTGGAGAAACAGTTCCCACAGCAGCGGTTCACTAACCTTCTCATCCAGGCCCCCCACGTACACAGTGGCATCTTGAAGGGAGGGAGCAAAAAGAGCAAGCGTGAGAGTGTAACGGGAAGGAAGGAAGTGATGGAAACATGAAGATGGAACCCAACCAGGGGAACTGGGGACCGCGGTAGGGGACAGGAGCAAAAAAAAAAGTTTAAACCCTTAAACTTCTCTCTTCCCAGGACTTCGGGAATCCTCTGAAGTCTAATTTAGTATTGTGAGTGGGTTTTTTTGATTTTTTGAGTGAGAAGTCAGCAGGGGACCGGACTTAAGTATCACACCCAGAGGCCTCAGCCAGCACCCGGCCACCCCGCCCCCAACAGGCAGAGGGCCGGTCTCGCGCCCTCTGGGGAAGGGAGGAGTCCAGTCTCCCACCCCTGCAGAGACACTGCTGGCTGTAGTCGGGGCCTCCTAGCCACGCTGAGCCCATTCCAGACTTTCCCCCTCCAGTTACCCTGATTCCGCTCGGAGATCGGCCCGGCAGCCACGGCGAAAGAGATCCCGCCGTCTCCCAGCAGCGGTTCCGCCTTCTGACCTCAGCACGACTTCCACTTCCGGGGCGAAGACGGACGTAGCGGTGGGCGGGGCCGCGGAAGAGGAGGTGCCTGGAAGCGGCTGCAGCCATCTTAGGAGCCTCCGAAACTTAACCTGGGTCGGGCGGTAGAGTCCTCGGCTCGCGTCCTGAGGTGCCGCTGCTAGTTGTCTTAGCGAGGAGGGCGGAACGGAAACGCTCAGGCCCTCTTAATGCACTGCTAGACTTGAAAGAATCACACTGCTCTCAAAAGTGTAAATTCGAAAGCTAAAAGAACAAAAATTTCAGTTTTAATATATTTTGTGGACAGTGATTCTTCTTCTGTTGTCCAGAGAAGGATGTGCTGAAGAGTTCCCCCCAACCCGAGGACTTGGGGGCTTTCAGGCGCAGAGGGAGCCTTCCCTCTCGCCTGCAGCCTTCTTGCAGATTTGGCCTCACAACCCTGATTTGGGCTGGAGGTATTTGGTTTTCCCTCAGGGGAGGAGACTGCGAAATGTCTGAGCTTAGAGTGACGTCTGCGCTCACCTCGTCCTAATTGCATGGGGAGGGTGAGGGCTGCTCCGCGTTGGTGTGTGACCACAGCTGAGGGGTGGATGGGATCGGAGCTCTAGAGTCTGGATCTCTAGAACACTCTGGCCCCATCTGCCTCTAAATGGGAGACACACACAAGAGAACCCTTTCCCCAAATTGCACTTGAATTTTGCAGAGCCTCACCAAACCCAGTTCCCCTATTTCCTTAGCAATAATATGGTGGATGCCTTCCTCTCTTGGGTCATACACCCCTTTTACCCACCACTTTCCTACCTAGGAGAATCCTTTATTCAAACACAAGAAACAATGCCAGCAATGTGTATAAATACTATGCTTTAATGAGCCCCTTAAATAGAAATTCCACTACAAAAATACAGAGGAGATAGGGTGTTTCCTGTATCCGCCTCATTCCCATAGAAAACTATAAGGGAAGAAATAGAACTTGGAATTAAAGCAGCAGCAAGGCGAGGTGAGAATGCGATTTCTAGGCCATCTTGTTGGGACTGATGAACAGCATCTCTGATCTCATGATTTAACATCTGGTTATCCAGAAGGGATGGGATTGGCCTAAAAAAACCGATCAATTTCTGGATTGTTTTTGTTTCTTAATCCTTCAAATGACAAGAAGCAAAAATATTTGTAGAAACTAAGCAAGACAAGAGTTGGAGCAGTTAACACCACTATCTGCAGCAGAAACTCAGACCTTCTTAGTGAACTTAAGGGCTGAAGTGTGAAAGCTGAGGCTGCAAGTGCAGATACAAAAAAAAAAAAAAAAGATTAGACAGAACCCTCCTCTACCCCAGATCCCCCTCTGCCCTGCCTTTGAGAATGCCAGCAATTTCAGTGGGATTGAGAATGGTATGTGGATCTCTTTTCTTGGAGTGATCCTCAGGAGATATTCTTGGTGTCCATTTCCGTAATAACTCCTGAAGATGGGATAGCTCATCCTGGAGGCCAGAGATTGTGGGAGCTGAGAGGCCCATCTGGGGAGGAGGCAAAGAGGAACAGAGAAGAATACTGTTGTAGCTCTGGCCCCCTGCTTCTCTGCTACTTCTGGTGTCTTTAATTCTGTTTCCCCTTTCAGCTATGCCCTAAATTCCACTTAATCTAAGCCACAAGCACTTTCCCGCACCTCCTACACTCCCAAACCTTGTTTGATGCCAAGAGGAGTAGAACTTCACTTCCCAGACTCCCAGAGGCTTCAGCTCCTTGCCTTTCCAGCTCCTGTTCATCTGGTTCAGCAGAGTCAAGTCCCTTGTCCCACTCCCAGTCTATTTTCCCTTCTTACCTGGACCTCAGGCCTTCCCCTCAGGTAGCAGCGTCTCCAGAGCCTGATCTGGGGTCCCAGATACCCAGGCAGCAGCAGCCCTGGAGGTAAAGGGCAAGCTCCCCAATGTGAGGGGAGACCCCATTCCTGGTCAGCCAGGCTTTCAGAGGAGATAGCAGGTCGAGGGAGCCAACGAGAAGAGACT
Task1_train_1528
A variant was discovered on Chromosome 1, affecting VPS45 (vacuolar protein sorting 45 homolog). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Congenital neutropenia-myelofibrosis-nephromegaly syndrome
CTTATTTTCAATAAAATGACTTACTTCCCTAGTATTCTCATTCTCCAATTCCTCCGATGGAGTCTTCCTCTATCGCCCAGGCTGGAGTGCAGTGGCCTGATCTGGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCAGTCCTTTTAAAATATATATATATATATATATAAAATTATGAATTTGTGGATTAAATATATTTTTGCTACCCATTCCAATTTGAAGGTCACTTATTCATTAGGCTTTAACTATCAGGCCCTTTTACATATATTGCAGCAGAAATTATCTCCTTTGAGTCAACCCCAACTCATGTGTTTCAGATTTCAGTAATGTGATCAGCAAGAGTGACGTGAAGTCATTGGCTGAAGCTGATGAACAGGAAGTTGTGGCTGAGGTTCAGGTAAACATATTGGTCCTGTAACACATCTCGTATGTTGGCCCTTTTTAAATATTTGAGTCTAAAAATAAAAAATAAGGAAAGGTCTGTCTCAAAAGAAGTTTTATTATGAATACTTGAATATGTTTATCACATAAATGAGGAATATTGTTTTCAGAGGCAGCAAATAAACTAGTTTTGAATTTTTCAGAAGGATGTGATAGGTGATAAATGAATAAAAAGAATACCTGTTTTAAATTATATTCTCTCTCATGACAACACATTGGACAGCAAAGTTCTTTTTTATCTGAGTAGAACATTGTATCTCCTATTAGCAGTATTTTATTTTTACTAATTGATAAGTATGCATAGAGGTCTCCAGAAATATAATGTGTATAACCTTACAACCTTTATTTGTTAGATTTATTATTATTGCTACTGTTTTGTAATTATTTTAATTCTCCCACGTTGACTGTTGTTACCCAATTATTAATTGAACAATTTAGTATCTCTTTACACCTGTATTTCACAAAGTTTGGCTATATCATATTATATCACTTATGAAAATATTACTGCTTGATACAATTGAAGTTTATGGAATGACTATTCTTGGTGCTTTATTTGCAGGAATTTTATGGTGATTACATTGCTGTGAACCCACATTTGTTTTCCCTCAATATTTTGGGTTGCTGCCAGGTATGGAAGGAAAGGTTTAATTTATCAGTCGAGAGTTAATTCAGCAAATAATTAGACTTGTAAGAGAAAATTCAAATATTTTCTCTGAATATATGTTTTTAACAAAAAGGGTCGAAATTGGGATCCAGCCCAGCTATCTAGAACAACTCAAGGGCTTACAGCTCTCCTTTTATCTCTGAAGAAGTGTCCCATGATTCGTTATCAGCTCTCATCAGAGGCAGCAAAGAGACTTGCAGAGTGCGTTAAGGTATGGCATTACCTATTCCTGGTTCCAAAACATAAAGGCCATTCATTTCTCTATCATATTTCAGAAACTAAAGGAATAGTTTATTTACAACCAAGGAGATGATTGTATGTTAGGTTTCCGCGAAAAGAGGTAGGTATATGTAATTTAAAACAAAAAGCAACAATTAGAGCTAAGATTCTTAGGTTTAACCCAAGAAACATTCACAAGCTATTTAACTTTTTTTGGTCCAGTTAAACCACTTATAAAATAGGGTTTCATATCCTAACCTCTTAAATAGTATGCTACTAAACTTTGTGAGACTTTTGAATCCTTCATATGGAAGATCTATGTGGGTGCAAAGAACTATTGTTAAATGTAGTGTTTATTAATTTCCTATTTATATCATTTCTATATGTAACTAGATGGTTGCACAAACCATCTTTCTCTCTCACCCACAGCAAGTGATAACTAAAGAATATGAACTGTTTGAATTCCGTCGGACAGAGGTTCCTCCATTGCTCCTTATTTTAGATCGCTGTGATGATGCCATCACCCCATTGCTAAACCAGGTACAAAACCCTTTCTTGGCATAATAGAAGGATAATTTTAAGTGATATTCATCAAAATACAGATAGGGAAGTAAAAACATGGTCCATTTATTTGCCTCCTTATTTTTAGCTATTCTTGGTTTTGCTTTGTATTTCCTGGTGTTTTGGTATCATGATTCTTCCATCCACTGTCATCATAACTCTTCTGCTTCATCTCTCCTGTACCTTTCTGCCAGTACCTCCACCCCTAATCAAGACAGCTTCTTAATTCTGTAGATTCTATTTCCCTGTGTTTCCTTCTGTCTCCTCATTTCCATGCTTACAGCCATTGCCTTGGTCTAGATCCTAATCTCTTGCAAGAATATTGAAATAGTCATCTACTTCGTTCCCTACTTTTTATTTCTTCTCACTCCAAATGTTCCACAAGTACAATTTCCTAAAGCACAGCTCTATCTTATTACTCTTGGCTTAAAAAACTTCATTGGTTCCCATTTGCCTACTAGGTTAAAAAGAAACTCCTGAACTTGGCATCCAAGAGCCTTCACAATGTGGGCTAAACCTCTTATAAAACCTAGAGTTCACCACTTACATAGATAATGCCACATGGTTTCCTGCCAGCATGCTTTTACTGTGACTGCTTTCTAAACTCTAGAATGTTTGGAATACCTTCTCTTCCCATCTTCACCTATCAAAATACTGCTGTTAAAACCACTCAATCTGGCCGGGCACGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAGGTCAAGAGTTCAAGACTAACCTGGCCAACATGGTGAAGCCCCGTCTCTACTAAAACTACAAAAAAATTAGCCGGGTGTGGTTGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCGAAGGTTGCAGTAAGCTGAGATCATGCCACTGCACTCCAGCCAGGGCGACAGAGCAAGACTCCGTCTCCAAAAATAAATAAATAAATAAATAAAATGATTTATATGAATAATAGCAAAGAATAAAAAAAAGAAGAGCCGGGCGCGGTGACTCACACCTATAATCCCAGCACTTTGGGAGGTCGAGGTGGGTAGATCACCTGAGGTCCTGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGACGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGATGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAACCGAGATCATGCCACTGTCCTCCAGCCTGGGCAACGAGAGCGAAACTCTTGTCTCAAAAAAAAAAAAAAACACTCAAAAGCCATCTCCAACATCCAGCCATTCTTCAACATCTCGAAGCCTGTATTCTTTCAGTCAGATATTGTTCTTATCTCCTGAAAATCCCTGTAGACTTGTAGACCTTTGTGTCTCTCTCATGTCTCATGCTGTACTTGCCATGTTGTAGCTTTGGTTGTTTACATCCTCTCCTACGTTACATATTTCTTCAAGGCAGACTGAGTCTCACCAGTGTTTTTTCTCCTTCAAGTATAAGAACAGTGCACATAGCGGGTGCTCTATTAATAGTGATTTTGTATGTGTGTATGTATTTATTGAGACAGAGTCTCTCTCTGTCACCCAGATTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCATGCCCCAGCTTCCTGAGTAGTTGGGATCACAGGTGCACACCCCCACACCTGGCTAATTTTTGTATTAAATATTTTTAGTACAGACAAGGTTTCTGTCTAAATATTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCGACTCGGCCTCCCAAAGTGCTAAGATGACAGGCGTGAGCCACCACGCCCGGCTGTGACTTTGTATTTACAGAGAAAGGCACAGTCTATGTTTCAGTTTCTTCCCAGCTTGTACTAATGTTAATGCTAAGGGAAATCTGTGGAGTGAAACTTC
CTTATTTTCAATAAAATGACTTACTTCCCTAGTATTCTCATTCTCCAATTCCTCCGATGGAGTCTTCCTCTATCGCCCAGGCTGGAGTGCAGTGGCCTGATCTGGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCAGTCCTTTTAAAATATATATATATATATATATAAAATTATGAATTTGTGGATTAAATATATTTTTGCTACCCATTCCAATTTGAAGGTCACTTATTCATTAGGCTTTAACTATCAGGCCCTTTTACATATATTGCAGCAGAAATTATCTCCTTTGAGTCAACCCCAACTCATGTGTTTCAGATTTCAGTAATGTGATCAGCAAGAGTGACGTGAAGTCATTGGCTGAAGCTGATGAACAGGAAGTTGTGGCTGAGGTTCAGGTAAACATATTGGTCCTGTAACACATCTCGTATGTTGGCCCTTTTTAAATATTTGAGTCTAAAAATAAAAAATAAGGAAAGGTCTGTCTCAAAAGAAGTTTTATTATGAATACTTGAATATGTTTATCACATAAATGAGGAATATTGTTTTCAGAGGCAGCAAATAAACTAGTTTTGAATTTTTCAGAAGGATGTGATAGGTGATAAATGAATAAAAAGAATACCTGTTTTAAATTATATTCTCTCTCATGACAACACATTGGACAGCAAAGTTCTTTTTTATCTGAGTAGAACATTGTATCTCCTATTAGCAGTATTTTATTTTTACTAATTGATAAGTATGCATAGAGGTCTCCAGAAATATAATGTGTATAACCTTACAACCTTTATTTGTTAGATTTATTATTATTGCTACTGTTTTGTAATTATTTTAATTCTCCCACGTTGACTGTTGTTACCCAATTATTAATTGAACAATTTAGTATCTCTTTACACCTGTATTTCACAAAGTTTGGCTATATCATATTATATCACTTATGAAAATATTACTGCTTGATACAATTGAAGTTTATGGAATGACTATTCTTGGTGCTTTATTTGCAGGAATTTTATGGTGATTACATTGCTGTGAACCCACATTTGTTTTCCCTCAATATTTTGGGTTGCTGCCAGGTATGGAAGGAAAGGTTTAATTTATCAGTCGAGAGTTAATTCAGCAAATAATTAGACTTGTAAGAGAAAATTCAAATATTTTCTCTGAATATATGTTTTTAACAAAAAGGGTCGAAATTGGGATCCAGCCCAGCTATCTAGAACAACTCAAGGGCTTACAGCTCTCCTTTTATCTCTGAAGAAGTGTCCCATGATTCGTTATCAGCTCTCATCAGAGGCAGCAAAGAGACTTGCAGAGTGCGTTAAGGTATGGCATTACCTATTCCTGGTTCCAAAACATAAAGGCCATTCATTTCTCTATCATATTTCAGAAACTAAAGGAATAGTTTATTTACAACCAAGGAGATGATTGTATGTTAGGTTTCCGCGAAAAGAGGTAGGTATATGTAATTTAAAACAAAAAGCAACAATTAGAGCTAAGATTCTTAGGTTTAACCCAAGAAACATTCACAAGCTATTTAACTTTTTTTGGTCCAGTTAAACCACTTATAAAATAGGGTTTCATATCCTAACCTCTTAAATAGTATGCTACTAAACTTTGTGAGACTTTTGAATCCTTCATATGGAAGATCTATGTGGGTGCAAAGAACTATTGTTAAATGTAGTGTTTATTAATTTCCTATTTATATCATTTCTATATGTAACTAGATGGTTGCACAAACCATCTTTCTCTCTCACCCACAGCAAGTGATAACTAAAGAATATGAACTGTTTGAATTCCGTCGGACAGAGGTTCCTCCATTGCTCCTTATTTTAGATCGCTGTGATGATGCCATCAACCCATTGCTAAACCAGGTACAAAACCCTTTCTTGGCATAATAGAAGGATAATTTTAAGTGATATTCATCAAAATACAGATAGGGAAGTAAAAACATGGTCCATTTATTTGCCTCCTTATTTTTAGCTATTCTTGGTTTTGCTTTGTATTTCCTGGTGTTTTGGTATCATGATTCTTCCATCCACTGTCATCATAACTCTTCTGCTTCATCTCTCCTGTACCTTTCTGCCAGTACCTCCACCCCTAATCAAGACAGCTTCTTAATTCTGTAGATTCTATTTCCCTGTGTTTCCTTCTGTCTCCTCATTTCCATGCTTACAGCCATTGCCTTGGTCTAGATCCTAATCTCTTGCAAGAATATTGAAATAGTCATCTACTTCGTTCCCTACTTTTTATTTCTTCTCACTCCAAATGTTCCACAAGTACAATTTCCTAAAGCACAGCTCTATCTTATTACTCTTGGCTTAAAAAACTTCATTGGTTCCCATTTGCCTACTAGGTTAAAAAGAAACTCCTGAACTTGGCATCCAAGAGCCTTCACAATGTGGGCTAAACCTCTTATAAAACCTAGAGTTCACCACTTACATAGATAATGCCACATGGTTTCCTGCCAGCATGCTTTTACTGTGACTGCTTTCTAAACTCTAGAATGTTTGGAATACCTTCTCTTCCCATCTTCACCTATCAAAATACTGCTGTTAAAACCACTCAATCTGGCCGGGCACGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAGGTCAAGAGTTCAAGACTAACCTGGCCAACATGGTGAAGCCCCGTCTCTACTAAAACTACAAAAAAATTAGCCGGGTGTGGTTGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCGAAGGTTGCAGTAAGCTGAGATCATGCCACTGCACTCCAGCCAGGGCGACAGAGCAAGACTCCGTCTCCAAAAATAAATAAATAAATAAATAAAATGATTTATATGAATAATAGCAAAGAATAAAAAAAAGAAGAGCCGGGCGCGGTGACTCACACCTATAATCCCAGCACTTTGGGAGGTCGAGGTGGGTAGATCACCTGAGGTCCTGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGACGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGATGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAACCGAGATCATGCCACTGTCCTCCAGCCTGGGCAACGAGAGCGAAACTCTTGTCTCAAAAAAAAAAAAAAACACTCAAAAGCCATCTCCAACATCCAGCCATTCTTCAACATCTCGAAGCCTGTATTCTTTCAGTCAGATATTGTTCTTATCTCCTGAAAATCCCTGTAGACTTGTAGACCTTTGTGTCTCTCTCATGTCTCATGCTGTACTTGCCATGTTGTAGCTTTGGTTGTTTACATCCTCTCCTACGTTACATATTTCTTCAAGGCAGACTGAGTCTCACCAGTGTTTTTTCTCCTTCAAGTATAAGAACAGTGCACATAGCGGGTGCTCTATTAATAGTGATTTTGTATGTGTGTATGTATTTATTGAGACAGAGTCTCTCTCTGTCACCCAGATTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCATGCCCCAGCTTCCTGAGTAGTTGGGATCACAGGTGCACACCCCCACACCTGGCTAATTTTTGTATTAAATATTTTTAGTACAGACAAGGTTTCTGTCTAAATATTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCGACTCGGCCTCCCAAAGTGCTAAGATGACAGGCGTGAGCCACCACGCCCGGCTGTGACTTTGTATTTACAGAGAAAGGCACAGTCTATGTTTCAGTTTCTTCCCAGCTTGTACTAATGTTAATGCTAAGGGAAATCTGTGGAGTGAAACTTC
Task1_train_1529
An alteration has been detected in PRPF3 (pre-mRNA processing factor 3) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Retinitis pigmentosa 18
GCAAATGCAAGAGCCAAACTCTTGGGTTGGTGTGTTATTAGATGCGATATGCTCCACTACCCACTGTGAGGGATGCTAATTCCAAAGGGCTTTTTGTTAGTTTCCCAAAGTTGAAACTGGGAAACAAAGTTGCTTCTATTTTTTTTTTTTTTTTTTTTTTGAGGAGGAGTTTCGCTCTTGTGGTCCAGGCTGCAGTGCAACGGCATGATCTCAGCTCACCACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTTGAGTTGGAGTTTCGCTTTTGTCACCCAGGCTGGAGTGCAATGGCACTATCTCCGTTCACTGCAACTTTCACCCCCCTGGGTTGAAGCTATTCTCCGGCCTTAGCCTCCGGAGTAGCTTGGATTATAGGTGCCTGCCACCACACCTGGCTAGTTTTTGAACTTTTAGTAGAGACAGGGTTTTGCCATGTTGGTCATGCTTGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTAGGCTTCCCAAAGTGCTGGGTTTACCGGCGTGAGCCACCGCACCTGGCCCTAATTTTGTTTTCTACATTTGCCAGGTATCATTGAATGAGGGGGTTTAACAGCTTAAAGGAAAACAACTAAGAACACTACTTAAGAAAGATAAGAGGCCAGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTGACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCACGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTT
GCAAATGCAAGAGCCAAACTCTTGGGTTGGTGTGTTATTAGATGCGATATGCTCCACTACCCACTGTGAGGGATGCTAATTCCAAAGGGCTTTTTGTTAGTTTCCCAAAGTTGAAACTGGGAAACAAAGTTGCTTCTATTTTTTTTTTTTTTTTTTTTTTGAGGAGGAGTTTCGCTCTTGTGGTCCAGGCTGCAGTGCAACGGCATGATCTCAGCTCACCACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTTGAGTTGGAGTTTCGCTTTTGTCACCCAGGCTGGAGTGCAATGGCACTATCTCCGTTCACTGCAACTTTCACCCCCCTGGGTTGAAGCTATTCTCCGGCCTTAGCCTCCGGAGTAGCTTGGATTATAGGTGCCTGCCACCACACCTGGCTAGTTTTTGAACTTTTAGTAGAGACAGGGTTTTGCCATGTTGGTCATGCTTGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTAGGCTTCCCAAAGTGCTGGGTTTACCGGCGTGAGCCACCGCACCTGGCCCTAATTTTGTTTTCTACATTTGCCAGGTATCATTGAATGAGGGGGTTTAACAGCTTAAAGGAAAACAACTAAGAACACTACTTAAGAAAGATAAGAGGCCAGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTTACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCACGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTT
Task1_train_1530
The gene PRPF3 (pre-mRNA processing factor 3) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Retinitis pigmentosa 18
GGGCAGATCACGAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTGACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCACGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTTATTTATTTTGAGACGGAGTTTCAGTCTTGTTGCCCAGGCAGGAGTGCAATGGCGCGATCTCAGCGCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACGCACCCCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCGTGATCTGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAGTAATCCTATATTATAAGAGTCTAAGGGTCTAGAGGACAAAAAGTCTGTAGGTCTTTACATTGTCAAGAACAATGAGATTGTAAGTATTTTTGGATGATAGTAAATACCTCTCCCTGACTCTTAGAGTAAACTTTGGTTAGTAATGTAATGGTTAATGTAAAGTGCTAGACTTTGAAGAAATGTAAGAGTGTGGAAATATTTCTAGACTCATCAACTCTACCTTTTAAGCATTCATCTATTTGTTTACTCCAGAGGCCTTTGTTTATAGAGAGGAAACCATTTTGGATTCATCTTTTTACTTGCCACTCCATTCAGGCAGCTGCTGATGCTAAAATGGAAGACATAACTAAACTTTCCCTTCTCCAGAGTTCGAAATTTGAGCAACCCAGCCAAGAAGTTCAAGATTGAAGCCAATGCTGGGCAACTGTACCTGACAGGGGTGGTGGTACTGCACAAGGATGTCAACGTGGTAGTAGTGGAAGGGGGTGAGTCTGAAAAACTTGAGGGAGACTGTCCCCAGACAACCCTAGGCTTAGAGTGATTAGCATTGTGGGGAGAAAGGAGAAAAAGATCGTATTTTAGTGCCATACCTGATAT
GGGCAGATCACGAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTGACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGATGTTCAAGACCCCACGAAGGTAGAAGCCCACGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTTATTTATTTTGAGACGGAGTTTCAGTCTTGTTGCCCAGGCAGGAGTGCAATGGCGCGATCTCAGCGCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACGCACCCCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCGTGATCTGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAGTAATCCTATATTATAAGAGTCTAAGGGTCTAGAGGACAAAAAGTCTGTAGGTCTTTACATTGTCAAGAACAATGAGATTGTAAGTATTTTTGGATGATAGTAAATACCTCTCCCTGACTCTTAGAGTAAACTTTGGTTAGTAATGTAATGGTTAATGTAAAGTGCTAGACTTTGAAGAAATGTAAGAGTGTGGAAATATTTCTAGACTCATCAACTCTACCTTTTAAGCATTCATCTATTTGTTTACTCCAGAGGCCTTTGTTTATAGAGAGGAAACCATTTTGGATTCATCTTTTTACTTGCCACTCCATTCAGGCAGCTGCTGATGCTAAAATGGAAGACATAACTAAACTTTCCCTTCTCCAGAGTTCGAAATTTGAGCAACCCAGCCAAGAAGTTCAAGATTGAAGCCAATGCTGGGCAACTGTACCTGACAGGGGTGGTGGTACTGCACAAGGATGTCAACGTGGTAGTAGTGGAAGGGGGTGAGTCTGAAAAACTTGAGGGAGACTGTCCCCAGACAACCCTAGGCTTAGAGTGATTAGCATTGTGGGGAGAAAGGAGAAAAAGATCGTATTTTAGTGCCATACCTGATAT
Task1_train_1531
A genetic alteration is present in PRPF3 (pre-mRNA processing factor 3) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Retinal dystrophy
GAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTGACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCACGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTTATTTATTTTGAGACGGAGTTTCAGTCTTGTTGCCCAGGCAGGAGTGCAATGGCGCGATCTCAGCGCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACGCACCCCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCGTGATCTGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAGTAATCCTATATTATAAGAGTCTAAGGGTCTAGAGGACAAAAAGTCTGTAGGTCTTTACATTGTCAAGAACAATGAGATTGTAAGTATTTTTGGATGATAGTAAATACCTCTCCCTGACTCTTAGAGTAAACTTTGGTTAGTAATGTAATGGTTAATGTAAAGTGCTAGACTTTGAAGAAATGTAAGAGTGTGGAAATATTTCTAGACTCATCAACTCTACCTTTTAAGCATTCATCTATTTGTTTACTCCAGAGGCCTTTGTTTATAGAGAGGAAACCATTTTGGATTCATCTTTTTACTTGCCACTCCATTCAGGCAGCTGCTGATGCTAAAATGGAAGACATAACTAAACTTTCCCTTCTCCAGAGTTCGAAATTTGAGCAACCCAGCCAAGAAGTTCAAGATTGAAGCCAATGCTGGGCAACTGTACCTGACAGGGGTGGTGGTACTGCACAAGGATGTCAACGTGGTAGTAGTGGAAGGGGGTGAGTCTGAAAAACTTGAGGGAGACTGTCCCCAGACAACCCTAGGCTTAGAGTGATTAGCATTGTGGGGAGAAAGGAGAAAAAGATCGTATTTTAGTGCCATACCTGATATAATATGCTAGG
GAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTGACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGCTGTTCAAGACTCCACGAAGGTAGAAGCCCACGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTTATTTATTTTGAGACGGAGTTTCAGTCTTGTTGCCCAGGCAGGAGTGCAATGGCGCGATCTCAGCGCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACGCACCCCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCGTGATCTGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAGTAATCCTATATTATAAGAGTCTAAGGGTCTAGAGGACAAAAAGTCTGTAGGTCTTTACATTGTCAAGAACAATGAGATTGTAAGTATTTTTGGATGATAGTAAATACCTCTCCCTGACTCTTAGAGTAAACTTTGGTTAGTAATGTAATGGTTAATGTAAAGTGCTAGACTTTGAAGAAATGTAAGAGTGTGGAAATATTTCTAGACTCATCAACTCTACCTTTTAAGCATTCATCTATTTGTTTACTCCAGAGGCCTTTGTTTATAGAGAGGAAACCATTTTGGATTCATCTTTTTACTTGCCACTCCATTCAGGCAGCTGCTGATGCTAAAATGGAAGACATAACTAAACTTTCCCTTCTCCAGAGTTCGAAATTTGAGCAACCCAGCCAAGAAGTTCAAGATTGAAGCCAATGCTGGGCAACTGTACCTGACAGGGGTGGTGGTACTGCACAAGGATGTCAACGTGGTAGTAGTGGAAGGGGGTGAGTCTGAAAAACTTGAGGGAGACTGTCCCCAGACAACCCTAGGCTTAGAGTGATTAGCATTGTGGGGAGAAAGGAGAAAAAGATCGTATTTTAGTGCCATACCTGATATAATATGCTAGG
Task1_train_1532
A variant has been detected on Chromosome 1 in PRPF3 (pre-mRNA processing factor 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Retinitis pigmentosa
CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTGACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCACGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTTATTTATTTTGAGACGGAGTTTCAGTCTTGTTGCCCAGGCAGGAGTGCAATGGCGCGATCTCAGCGCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACGCACCCCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCGTGATCTGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAGTAATCCTATATTATAAGAGTCTAAGGGTCTAGAGGACAAAAAGTCTGTAGGTCTTTACATTGTCAAGAACAATGAGATTGTAAGTATTTTTGGATGATAGTAAATACCTCTCCCTGACTCTTAGAGTAAACTTTGGTTAGTAATGTAATGGTTAATGTAAAGTGCTAGACTTTGAAGAAATGTAAGAGTGTGGAAATATTTCTAGACTCATCAACTCTACCTTTTAAGCATTCATCTATTTGTTTACTCCAGAGGCCTTTGTTTATAGAGAGGAAACCATTTTGGATTCATCTTTTTACTTGCCACTCCATTCAGGCAGCTGCTGATGCTAAAATGGAAGACATAACTAAACTTTCCCTTCTCCAGAGTTCGAAATTTGAGCAACCCAGCCAAGAAGTTCAAGATTGAAGCCAATGCTGGGCAACTGTACCTGACAGGGGTGGTGGTACTGCACAAGGATGTCAACGTGGTAGTAGTGGAAGGGGGTGAGTCTGAAAAACTTGAGGGAGACTGTCCCCAGACAACCCTAGGCTTAGAGTGATTAGCATTGTGGGGAGAAAGGAGAAAAAGATCGTATTTTAGTGCCATACCTGATATAATATGCTAGGTCTCTGCTTCTGTGTTTTT
CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTGACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCCCGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTTATTTATTTTGAGACGGAGTTTCAGTCTTGTTGCCCAGGCAGGAGTGCAATGGCGCGATCTCAGCGCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACGCACCCCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCGTGATCTGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAGTAATCCTATATTATAAGAGTCTAAGGGTCTAGAGGACAAAAAGTCTGTAGGTCTTTACATTGTCAAGAACAATGAGATTGTAAGTATTTTTGGATGATAGTAAATACCTCTCCCTGACTCTTAGAGTAAACTTTGGTTAGTAATGTAATGGTTAATGTAAAGTGCTAGACTTTGAAGAAATGTAAGAGTGTGGAAATATTTCTAGACTCATCAACTCTACCTTTTAAGCATTCATCTATTTGTTTACTCCAGAGGCCTTTGTTTATAGAGAGGAAACCATTTTGGATTCATCTTTTTACTTGCCACTCCATTCAGGCAGCTGCTGATGCTAAAATGGAAGACATAACTAAACTTTCCCTTCTCCAGAGTTCGAAATTTGAGCAACCCAGCCAAGAAGTTCAAGATTGAAGCCAATGCTGGGCAACTGTACCTGACAGGGGTGGTGGTACTGCACAAGGATGTCAACGTGGTAGTAGTGGAAGGGGGTGAGTCTGAAAAACTTGAGGGAGACTGTCCCCAGACAACCCTAGGCTTAGAGTGATTAGCATTGTGGGGAGAAAGGAGAAAAAGATCGTATTTTAGTGCCATACCTGATATAATATGCTAGGTCTCTGCTTCTGTGTTTTT
Task1_train_1533
Located on Chromosome 1, this mutation impacts TARS2 (threonyl-tRNA synthetase 2, mitochondrial). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Combined oxidative phosphorylation defect type 21
AACATTTATCATTTCTTTGTGTTGGGACTATTTCAAATCTTCTAGCTATTTTGAAATATACAATAAATTATTATTAACTGTATTCACCCAACTCTGCTATGGAACATTAGAGCATATTCCTTCTGTCTAACTCTATTTTTGTACCCATTAGCCAACCTCTTCATCTCCCCTCCCCCATCCTTTCCAGCCTCTGGTAACTATCACTCTATTCTCTACCACTGTGAGATCAACTTTTTAAACTCTCATATAGGAATCAGAACATGTGATATTTTCCTTTTTGTGCCTTGTAACCCTGTCTTTTTCTTCATCCCCACCTTCCACTGCTGAAGTTCAACACTGGCAGATACTGCAGTGGCTGCTCAAGTGAATGGAGAACCTTATGATCTGGAGCGGCCCTTGGAGACAGATTCTGACCTCAGATTTCTGACATTCGATTCCCCAGAGGGGAAAGCAGTAAGTTTCTTTCTTATCAGGAATACAGTGACTACTAAACCAAGAGATATTGAAGCAGGAAATTCTAACATTTTATTCTTTTGCCGCAGTTTCTCCATTTGCAGTTGGGAGGGAGACCTACCACAGACTGTCTTGACTATTTCTGGTTAGGAAACTTATGGTGAAAGTTTTTAACTTAGCTTCGATCTATTAAGCAAACATTTGTGCTAGTGAGAGGGAGAGAGATGATATGTTGAAAAAACGAAAGGATAAATATGTAAATTCAGCCCCCTCAACTCTTGAGCACGTACATTATAAGTCATCTGTAGTGTATATTCAATTCTAACATGGCTTATACAGCTGAGCAAACAACCTGGTCACCTCCCCACCTTGTCTTCTTCATGTCAGCTCAGGTAGCACAGACCTTGCCTATTAGGATCCAGAAAAATAGAGTTCTCCTGCCATCTATGTGTAAATAGTGACCAAATCCAAGAGGAATATATCGCACTAGATTCGTGGGACAGAAAAAAATAGGACTAAAAGACCAAACAGAGACCTAAGTAACCACTGTGTTAAGAAGATAGCTTATTCTGGCCAGGCACAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATAGTAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACTTGTCATCCCAGCTAATTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGTCATTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAGAAAAATTATTCTGAAGCCCTAAAAGCTTACAGGAGCAGCAGAAGACTGACTGGCCTCCAGCTTCTATGCTTTGGAACTGGGAAGAACCAAGGATTGAGGGGTGGGGCTGGAGCTTCTATGCACTGAAAGAAGAAAAAATACTGGCCTTCTTTCTTTTCTATTCAGTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGTTCACTGCAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACACGCCACCATGCCTGGCTAGTTTTGTATGTTTTAGCAGAGACAGGGTTTCACCATGTTGGCCAGACTGGCCTCGAACTCCTGACCTCAGATGATCCGCCTGCCTTGACCTCCTGAAGTGTTGGGGTTACAGGCATGAGCTGCTGTGCCCAGCCTTTTTTTTTAAGCTTGTTACTTTTTAGTGGTCACCCCCAAAATCTAGGATCCCCATTTTGTGGTAGTTATTCCTAGAAGAACCATACCGGCTTTCCTACCAGCTTTTGTGAGGAAGAGCTCAGAGATCTAGGGGTTAAGGGAGAAGTTTATGAACTTGTGAACCCCTTTTTTGTGAACCCAGGTGTTCTGGCACTCCAGCACCCATGTCCTGGGGGCAGCAGCTGAACAATTCCTAGGTGCTGTTCTCTGCAGAGGTCCAAGTACAGAATATGGCTTTTACCATGATTTCTTCCTGGGAAAGGAGAGGTGAGTAATGAAAGGAAGGAGGAGAATGATTCTGGGATGGTTTCTGAGGCTCTTTTCAGGGGCCTTGGGCATGCTCCATTTGGATGAGGAAGCTGGAGGAGAAGGGTTTCTCTAGGTCTCAACTATGACATTAGTATCTCCTTCTGTGCTAGTCCATGTCCCTCTTCTAACTTTGCTTGAAATTTACCTTCTTGGCTGGTGCACATGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCTGGGAGGTTGAGGCTGTGGTGAGCCATGATCTTAACCACTGCACCCAACTTGTGTGACACAGCAAGACACTTTCTCAAAAAAAAAACAAAAAGAAAAAGAAGAAACAACTTACTTTGTTACTTGTTAGCTTTCATAAATTCAAGTTTTACTTAATCGCCCTCATTACTATTGTTCTAACTTTGTCTATCCAGATTTCCTGCATTCAACTTTTAACTTCATGCATAGAGCTTTTTCTCCAGCTGTAATATCTGTTACCTGATATCCTATTTATATTTTCTCTGAGTTTGTCTGTCTTTGCCTATAACTCTAGATTTCTCTTGAAGGACAGGACCTTACCCGCTAGCCAACAGGTGTGTCACCCAGGTGATTGATGCACCTCATAGGATGCAACCCAACCAATTCTCCTCTTTCCAGGACAATCCGGGGCTCAGAGCTGCCTGTTTTGGAGCGGATTTGCCAGGAACTTACAGCTGCTGCTCGACCCTTCCGGAGGCTAGAGGCTTCACGGGATCAGCTTCGCCAGTTGTTCAAGGTGGGGTGGAGGGAAGAGGTGGCTCTTCCAGGACATCTTTGTGGGAATAAACACTTTTCTTCAATCTCCCTTCTACCTTTTTCCAGGATAACCCCTTTAAGCTTCACTTGATTGAGGAGAAAGTGACAGGTCCAACAGCAACAGTATATGGGTAAGAGTTGTCAAGATTAAGGCAAACAGAGAGGTGGGGAAGCATTGAAGAAGGCCAGAAATGCGATAAGGGAAGAAAGATAGAAGGTAATTTGTGTTGCTCCAGAAAAAGAAATGGGAATGGGAATTGATTTTTTTTTTTTCTTTTTTTGAGACGGAGTCTTGGTCTGTCTCCCAGGCTGGAGTGCGGTAGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCAGAGTGGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGTTCTGTCACCCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCACTGCATCTCTGCCTCCCGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCATGCACCACCATGCCTAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATATTGTCCAGGCTGGTCTCGAACTCCTGACCACGTGATCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTATAGACATGAGCCACCGCGCCCTGCCAGGGAATTGATTTTTATCTGCCATTGCCCTCTCTCAGTAGGACAGTTCCTTTCTCTTCACCTCTTCTGTCAGCTAAAGACCATGAGAGGGAGAAAGCTAGAAGCTGAAGATTCTGAAAATCACTAACTGGCCTCTTCTTTCTCCTAGGTGTGGCACATTGGTTGACCTTTGCCAGGGCCCCCACCTTCGGCATACTGGACAGATTGGAGGACTGAAGCTGCTATCGGTCAGTTGTGGGACAGAGTTAGGTTAAGATTCCTATTTTGAGCCGGGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGATGGATCATAAAGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCTAGCTGCTCGGGAGGCTGAGACAGGAGAGTTGCCTGA
AACATTTATCATTTCTTTGTGTTGGGACTATTTCAAATCTTCTAGCTATTTTGAAATATACAATAAATTATTATTAACTGTATTCACCCAACTCTGCTATGGAACATTAGAGCATATTCCTTCTGTCTAACTCTATTTTTGTACCCATTAGCCAACCTCTTCATCTCCCCTCCCCCATCCTTTCCAGCCTCTGGTAACTATCACTCTATTCTCTACCACTGTGAGATCAACTTTTTAAACTCTCATATAGGAATCAGAACATGTGATATTTTCCTTTTTGTGCCTTGTAACCCTGTCTTTTTCTTCATCCCCACCTTCCACTGCTGAAGTTCAACACTGGCAGATACTGCAGTGGCTGCTCAAGTGAATGGAGAACCTTATGATCTGGAGCGGCCCTTGGAGACAGATTCTGACCTCAGATTTCTGACATTCGATTCCCCAGAGGGGAAAGCAGTAAGTTTCTTTCTTATCAGGAATACAGTGACTACTAAACCAAGAGATATTGAAGCAGGAAATTCTAACATTTTATTCTTTTGCCGCAGTTTCTCCATTTGCAGTTGGGAGGGAGACCTACCACAGACTGTCTTGACTATTTCTGGTTAGGAAACTTATGGTGAAAGTTTTTAACTTAGCTTCGATCTATTAAGCAAACATTTGTGCTAGTGAGAGGGAGAGAGATGATATGTTGAAAAAACGAAAGGATAAATATGTAAATTCAGCCCCCTCAACTCTTGAGCACGTACATTATAAGTCATCTGTAGTGTATATTCAATTCTAACATGGCTTATACAGCTGAGCAAACAACCTGGTCACCTCCCCACCTTGTCTTCTTCATGTCAGCTCAGGTAGCACAGACCTTGCCTATTAGGATCCAGAAAAATAGAGTTCTCCTGCCATCTATGTGTAAATAGTGACCAAATCCAAGAGGAATATATCGCACTAGATTCGTGGGACAGAAAAAAATAGGACTAAAAGACCAAACAGAGACCTAAGTAACCACTGTGTTAAGAAGATAGCTTATTCTGGCCAGGCACAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATAGTAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACTTGTCATCCCAGCTAATTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGTCATTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAGAAAAATTATTCTGAAGCCCTAAAAGCTTACAGGAGCAGCAGAAGACTGACTGGCCTCCAGCTTCTATGCTTTGGAACTGGGAAGAACCAAGGATTGAGGGGTGGGGCTGGAGCTTCTATGCACTGAAAGAAGAAAAAATACTGGCCTTCTTTCTTTTCTATTCAGTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGTTCACTGCAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACACGCCACCATGCCTGGCTAGTTTTGTATGTTTTAGCAGAGACAGGGTTTCACCATGTTGGCCAGACTGGCCTCGAACTCCTGACCTCAGATGATCCGCCTGCCTTGACCTCCTGAAGTGTTGGGGTTACAGGCATGAGCTGCTGTGCCCAGCCTTTTTTTTTAAGCTTGTTACTTTTTAGTGGTCACCCCCAAAATCTAGGATCCCCATTTTGTGGTAGTTATTCCTAGAAGAACCATACCGGCTTTCCTACCAGCTTTTGTGAGGAAGAGCTCAGAGATCTAGGGGTTAAGGGAGAAGTTTATGAACTTGTGAACCCCTTTTTTGTGAACCCAGGTGTTCTGGCACTCCAGCACCCATGTCCTGGGGGCAGCAGCTGAACAATTCCTAGGTGCTGTTCTCTGCAGAGGTCCAAGTAGAGAATATGGCTTTTACCATGATTTCTTCCTGGGAAAGGAGAGGTGAGTAATGAAAGGAAGGAGGAGAATGATTCTGGGATGGTTTCTGAGGCTCTTTTCAGGGGCCTTGGGCATGCTCCATTTGGATGAGGAAGCTGGAGGAGAAGGGTTTCTCTAGGTCTCAACTATGACATTAGTATCTCCTTCTGTGCTAGTCCATGTCCCTCTTCTAACTTTGCTTGAAATTTACCTTCTTGGCTGGTGCACATGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCTGGGAGGTTGAGGCTGTGGTGAGCCATGATCTTAACCACTGCACCCAACTTGTGTGACACAGCAAGACACTTTCTCAAAAAAAAAACAAAAAGAAAAAGAAGAAACAACTTACTTTGTTACTTGTTAGCTTTCATAAATTCAAGTTTTACTTAATCGCCCTCATTACTATTGTTCTAACTTTGTCTATCCAGATTTCCTGCATTCAACTTTTAACTTCATGCATAGAGCTTTTTCTCCAGCTGTAATATCTGTTACCTGATATCCTATTTATATTTTCTCTGAGTTTGTCTGTCTTTGCCTATAACTCTAGATTTCTCTTGAAGGACAGGACCTTACCCGCTAGCCAACAGGTGTGTCACCCAGGTGATTGATGCACCTCATAGGATGCAACCCAACCAATTCTCCTCTTTCCAGGACAATCCGGGGCTCAGAGCTGCCTGTTTTGGAGCGGATTTGCCAGGAACTTACAGCTGCTGCTCGACCCTTCCGGAGGCTAGAGGCTTCACGGGATCAGCTTCGCCAGTTGTTCAAGGTGGGGTGGAGGGAAGAGGTGGCTCTTCCAGGACATCTTTGTGGGAATAAACACTTTTCTTCAATCTCCCTTCTACCTTTTTCCAGGATAACCCCTTTAAGCTTCACTTGATTGAGGAGAAAGTGACAGGTCCAACAGCAACAGTATATGGGTAAGAGTTGTCAAGATTAAGGCAAACAGAGAGGTGGGGAAGCATTGAAGAAGGCCAGAAATGCGATAAGGGAAGAAAGATAGAAGGTAATTTGTGTTGCTCCAGAAAAAGAAATGGGAATGGGAATTGATTTTTTTTTTTTCTTTTTTTGAGACGGAGTCTTGGTCTGTCTCCCAGGCTGGAGTGCGGTAGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCAGAGTGGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGTTCTGTCACCCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCACTGCATCTCTGCCTCCCGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCATGCACCACCATGCCTAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATATTGTCCAGGCTGGTCTCGAACTCCTGACCACGTGATCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTATAGACATGAGCCACCGCGCCCTGCCAGGGAATTGATTTTTATCTGCCATTGCCCTCTCTCAGTAGGACAGTTCCTTTCTCTTCACCTCTTCTGTCAGCTAAAGACCATGAGAGGGAGAAAGCTAGAAGCTGAAGATTCTGAAAATCACTAACTGGCCTCTTCTTTCTCCTAGGTGTGGCACATTGGTTGACCTTTGCCAGGGCCCCCACCTTCGGCATACTGGACAGATTGGAGGACTGAAGCTGCTATCGGTCAGTTGTGGGACAGAGTTAGGTTAAGATTCCTATTTTGAGCCGGGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGATGGATCATAAAGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCTAGCTGCTCGGGAGGCTGAGACAGGAGAGTTGCCTGA
Task1_train_1534
A variant affecting Chromosome 1, within the gene TARS2 (threonyl-tRNA synthetase 2, mitochondrial), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Combined oxidative phosphorylation defect type 21
GGGCAGAAGCAGGTCCAGTAGAGAGTCTGGTGCCCTGCAGTGGGCAGGAAGAGGCTGCAGGGGTGGTAGAGGAAGGAGCACAGCCCTCACAGCCACAAGACTGGGCTCGAGTGGCTGCTGTCCTAGATGCTGGAAATCCTGTATCTAAAAAATGTGACTAATGCCTACCTTGTAGAGATGTATGAAAATTAAACAAATTAACAAATGTTGAAAGCCACCAAAAGAGCACTTGGCACAAAACTGGGATTGAGTACACAGTTTTATTTTTCCTTTCTAGAGAGAATTGAGGATATGGATGGTACCAGAGTCAAACAGCTGGTTGGGTAGAGCAGTGGCTAGAAGGCAAAGTCCACGGAATAACTGGGGGGTCATCTCCAGTAGGAGGCAGAAAGATTGTGGGGTTGGGGATGAATGGGGAGGAGGCCTCAATGTGGAGATGAAATGAGGAGAGGTTGCTGGTAAGAAGTGGAGAGCCCCGAGGCAGGGAAAGGAGGAACAGATGGGGGCATTGAGGGAAAAGAGCATCAGACTGTTCTAGCTCCTTAACTTTCCAGTAAATTAACTTCCTGTCACCAAACCTCTGTTGCAGGCACAGCAGAGCCTGCGGGCTGCAGGACTGGTCAGTGACCTGGATGCAGACTCTGGACTGACCCTCAGCCGGAGAATCCGCCGGGCCCAGCTTGCCCACTACAATTTTCAGTTTGGTAAGCTGAACCTCAGAGCCAATGTTCTCCCACCTGCCGTCTGCATTCTTGCTGTTAAGTTTACCAAGTCTGGTAATGCATATTTGGGTTAATTGGGGCTCATTACCTGAGCAGGTAGGAGCCAGGATTCAGGACACCTGACTCATTTGGGCCCTGTGTTCCTTCACATTGCCCTGCCCTCCCCATAACCACTTCTGACACTCAAAATAGTTTTCCTCTTTTTAACTCCACTCTAGCTGTTGGTGTCTGTTAGGTTAATTAACCAAGGGAGCATCAGAGAGAAAGGGACGGGAGGGTTAATACAGCGTTAATTACCCTTGTTTATTTTAGACCTAGATGGAATCAGCCCTAAGGGATGAGGAGAAAGGCCTTAGGGAGAAAATTCTGGCACTGCCATGCTCCCTTTTTCATTTTCCAGGGTTCAGGGCTCTATCTCAAAGGTGAGGAGCAGAAACTCCTCAGCCAGATTACCTGATTCTTGAGTTTTGCACACCCCACTCTCCCTACAAGCACCCAGAGCAAGCTGTGCTGCAATCCCAGGGACTTGTACATGGCCCCTTTCCCTCCCTTACCGCCCAGTCAGCCCCTGCATACATCCTCCTCAGCAGAGGCCCCTCACTCTGTGAATCCAGCCCTAACAGACACCAAGAGCCAGAGTGGGACTGATGAGAGGAAACTGTTCTAAGGGTCAGAGTGGTTGGGGGGAGGCGGGGCAGTGTGAAGGCCACACCACTCCTGCCACCTTCCACTTGCTCTAATACCCCCTTCAGACACGCGCGCGCACACACACACACACACACACACACACACAGTTTCTCTCTGTGGGGTTCTCATTGTTTGTCTTTCTCTGCTTGACTCTAATGTCTCTGACACACACACACACACACACACACACACACACAGTTTCTCTCTGTGGGGTTCTCAGTGTTTGTCTTTCTCTGCTTGACTCTTATGTCTCTGACCCTGGGGCTCTTGACCAGAAGCGATAAGGCCTGCGGGGACTGAAGCACTTCCTTGTCTCCTCAGGATGAGCAGGACTGGTCATTTAGTATTAGCAGACACAGCTGAATACTTCCTTTCTGTGAACCATATCTGGGCTCTGCTCCCACCCTTCCTAAAGATTTAGGTCTCTCAAGTTTCTGCAGAGCAAAAGAAACTGTTCCATGTGGGTGAATTTGCCCTGAGGTTCCCAAACTTCCTCTACCTGCAGTGGTTGGCCAGAAAGAGCAAAGTAAGAGAACAGTGAACATTCGGACTCGAGATAATCGTCGCCTTGGGGAGTGGGACTTGCCTGAGGCTGTGCAGCGACTGGTGGAGCTACAGAACACGAGGGTCCCAAATGCCGAAGAAATTTTCTGAGCCTTTGTACATAGATGAGGCAAAAACCTGCGAGTGCCATCAGCCTCCCTCACATGGGAGACCCCAACCCAGCTGACAATGTGGAGCCCCCAGAACTTCAGAACTGTGTGGAGGCACATGTCTGCTCTCCTGAAAAGAGACTTGGTTTGGGGACCCCACAAAAGGAGGGAAGCTGTAGCTGTTTGGATGTGAGGAGAATGAAACTACAAAAAAAAATAAATTGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCGGACGGATCATGAGGTCAGGAGATCAAGACCACCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACCCCCCTAGGCGACAGAGCGAGACTCTGTCTCTAAATAAATAAATAAATAAATAAATACAAACTGGAAGCTGCTGGTCATATGTCTTCATCTCTGACTCTGGAGAGGTGGGATAAAAGGATGTTCCACTTTGTCTCCCTCTTTTTTGTCCCAGAGAGTTAGGGAAATTGAAAAGGGACAGTCCAGACCTCACACTGGTAGGGGAGATCCCTTGGATAGGTTTCCTGCTCCCCGCTGTAAACTCCTTTGTGCCCTGTTTCCCCAACCCCAGTTCATGAGTTGGCAGATCCCCTCTCCACAGAAGGCAGCCTGTAGATGGAGAAACTGAGGCACAAACTAGGGGCTCAAACACCTCTTGCTCCTGGATTCTCTGAATCAGTTTCTCTTGAAGGTCATAAGAATGTTCTCCTCTAATCAGTCCCATTCTTCTCAATCCTCTGAGGAGGCTTCAGGGTGACTTTGGGAGGAGTGGCTTCCAGAGGAGGAGCAGCTGGGACTGAGTCATGGCAGGAAGCTGAGGAGGGCGGGAGATCACACCAGACAATTATAAAAGAAGAGCTGGTCCTGAAGCTCACAACCGTAACAGCCACCAGACAAGCTTCAGTGGCCGGCCCTTCACATCCAGACTTGCCTGAGAGGACCCACCTCTGAGTGTCCAGTGGTCAGTTGCCCCAGGATGGGGACCACAGCCAGAGCAGCCTTGGTCTTGACCTATTTGGCTGTTGCTTCTGCTGCCTCTGAGGGAGGTGAGTTGGGGGATCAGCACTTAGGAGGGGGTCTGGGCTTGCATGGCAGGGGTCTGGGTCCAGGCATCCCAGACGGCTCATCACTAGCAGAGTGATTCTCCGTTTGGCTTTCCTTTTCTGAGCAGGCCCAAAGTGGGCCTAGGCCAGTGGAGCCTTTAACCAAGGAGGCAGAGAGCAGGGGCACAGAAGGAGAGGGGTTCCTAGAAACTGCTGCCAAGAAACACAGAATCCCAGTCAAATAGACAACTGAGTGGGGGGTGGGTTCACAGAGTGAGGGTCTCCTGCTGATGAGGATGTAGGGAGGTGGCTGGTGGGAGAGGCAAGGGAGGGAAAAGGGGCCCCCAGGCTGCTCAAAACCGGATTGCTGGCCCAGCAAGCCTCGACTGACTCCCTGTCTGATTAGAGGAGTTGAGGGGTGTCCATCCACAGACCCACCCTCCATCCAGCACAAACACATTCTTTATCTGCTTTGATGCCTGAACAAAACAGGAACCCCTCAATGCTATGGGTGGAAACTAAGAAAAAAAGGAAAAGAAAAGGAAAAAAACCACCCAGGGCACTCCTGCAGGAAGCTGCTGAGGATGTCAGCAAATCTGTCCACTTCTCTGTGAAGCCCCATGCCATCATTCTTCCCAGCTCCTGGTCTTTTGTGTCTGCAGATCACCTACAAGTGACCCTTCCCTGTGCCTGTCCCAGTCCCCCAGGCCCTAAATTGAGACCTAAACTAAGGCGGAGCTGAGACTGGCTGAAGGGGAAGCACTCAACCTTCAGGAAGCCTCCTTAACCAAAGGCCTAAAGATGTTTCAAGGGCCTGGAGT
GGGCAGAAGCAGGTCCAGTAGAGAGTCTGGTGCCCTGCAGTGGGCAGGAAGAGGCTGCAGGGGTGGTAGAGGAAGGAGCACAGCCCTCACAGCCACAAGACTGGGCTCGAGTGGCTGCTGTCCTAGATGCTGGAAATCCTGTATCTAAAAAATGTGACTAATGCCTACCTTGTAGAGATGTATGAAAATTAAACAAATTAACAAATGTTGAAAGCCACCAAAAGAGCACTTGGCACAAAACTGGGATTGAGTACACAGTTTTATTTTTCCTTTCTAGAGAGAATTGAGGATATGGATGGTACCAGAGTCAAACAGCTGGTTGGGTAGAGCAGTGGCTAGAAGGCAAAGTCCACGGAATAACTGGGGGGTCATCTCCAGTAGGAGGCAGAAAGATTGTGGGGTTGGGGATGAATGGGGAGGAGGCCTCAATGTGGAGATGAAATGAGGAGAGGTTGCTGGTAAGAAGTGGAGAGCCCCGAGGCAGGGAAAGGAGGAACAGATGGGGGCATTGAGGGAAAAGAGCATCAGACTGTTCTAGCTCCTTAACTTTCCAGTAAATTAACTTCCTGTCACCAAACCTCTGTTGCAGGCACAGCAGAGCCTGCGGGCTGCAGGACTGGTCAGTGACCTGGATGCAGACTCTGGACTGACCCTCAGCCGGAGAATCCGCCGGGCCCAGCTTGCCCACTACAATTTTCAGTTTGGTAAGCTGAACCTCAGAGCCAATGTTCTCCCACCTGCCGTCTGCATTCTTGCTGTTAAGTTTACCAAGTCTGGTAATGCATATTTGGGTTAATTGGGGCTCATTACCTGAGCAGGTAGGAGCCAGGATTCAGGACACCTGACTCATTTGGGCCCTGTGTTCCTTCACATTGCCCTGCCCTCCCCATAACCACTTCTGACACTCAAAATAGTTTTCCTCTTTTTAACTCCACTCTAGCTGTTGGTGTCTGTTAGGTTAATTAACCAAGGGAGCATCAGAGAGAAAGGGACGGGAGGGTTAATACAGCGTTAATTACCCTTGTTTATTTTAGACCTAGATGGAATCAGCCCTAAGGGATGAGGAGAAAGGCCTTAGGGAGAAAATTCTGGCACTGCCATGCTCCCTTTTTCATTTTCCAGGGTTCAGGGCTCTATCTCAAAGGTGAGGAGCAGAAACTCCTCAGCCAGATTACCTGATTCTTGAGTTTTGCACACCCCACTCTCCCTACAAGCACCCAGAGCAAGCTGTGCTGCAATCCCAGGGACTTGTACATGGCCCCTTTCCCTCCCTTACCGCCCAGTCAGCCCCTGCATACATCCTCCTCAGCAGAGGCCCCTCACTCTGTGAATCCAGCCCTAACAGACACCAAGAGCCAGAGTGGGACTGATGAGAGGAAACTGTTCTAAGGGTCAGAGTGGTTGGGGGGAGGCGGGGCAGTGTGAAGGCCACACCACTCCTGCCACCTTCCACTTGCTCTAATACCCCCTTCAGACACGCGCGCGCACACACACACACACACACACACACACACAGTTTCTCTCTGTGGGGTTCTCATTGTTTGTCTTTCTCTGCTTGACTCTAATGTCTCTGACACACACACACACACACACACACACACACACAGTTTCTCTCTGTGGGGTTCTCAGTGTTTGTCTTTCTCTGCTTGACTCTTATGTCTCTGACCCTGGGGCTCTTGACCAGAAGCGATAAGGCCTGCGGGGACTGAAGCACTTCCTTGTCTCCTCAGGATGAGCAGGACTGGTCATTTAGTATTAGCAGACACAGCTGAATACTTCCTTTCTGTGAACCATATCTGGGCTCTGCTCCCACCCTTCCTAAAGATTTAGGTCTCTCAAGTTTCTGCAGAGCAAAAGAAACTGTTCCATGTGGGTGAATTTGCCCTGAGGTTCCCAAACTTCCTCTACCTGCAGTGGTTGGCCAGAAAGAGCAAAGTAAGAGAACAGTGAACATTCGGACTCGAGATAATCGTCGCCTTGGGGAGTGGGACTTGCCTGAGGCTGTGCAGCGACTGGTGGAGCTACAGAACACGAGGGTCCCAAATGCCAAAGAAATTTTCTGAGCCTTTGTACATAGATGAGGCAAAAACCTGCGAGTGCCATCAGCCTCCCTCACATGGGAGACCCCAACCCAGCTGACAATGTGGAGCCCCCAGAACTTCAGAACTGTGTGGAGGCACATGTCTGCTCTCCTGAAAAGAGACTTGGTTTGGGGACCCCACAAAAGGAGGGAAGCTGTAGCTGTTTGGATGTGAGGAGAATGAAACTACAAAAAAAAATAAATTGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCGGACGGATCATGAGGTCAGGAGATCAAGACCACCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACCCCCCTAGGCGACAGAGCGAGACTCTGTCTCTAAATAAATAAATAAATAAATAAATACAAACTGGAAGCTGCTGGTCATATGTCTTCATCTCTGACTCTGGAGAGGTGGGATAAAAGGATGTTCCACTTTGTCTCCCTCTTTTTTGTCCCAGAGAGTTAGGGAAATTGAAAAGGGACAGTCCAGACCTCACACTGGTAGGGGAGATCCCTTGGATAGGTTTCCTGCTCCCCGCTGTAAACTCCTTTGTGCCCTGTTTCCCCAACCCCAGTTCATGAGTTGGCAGATCCCCTCTCCACAGAAGGCAGCCTGTAGATGGAGAAACTGAGGCACAAACTAGGGGCTCAAACACCTCTTGCTCCTGGATTCTCTGAATCAGTTTCTCTTGAAGGTCATAAGAATGTTCTCCTCTAATCAGTCCCATTCTTCTCAATCCTCTGAGGAGGCTTCAGGGTGACTTTGGGAGGAGTGGCTTCCAGAGGAGGAGCAGCTGGGACTGAGTCATGGCAGGAAGCTGAGGAGGGCGGGAGATCACACCAGACAATTATAAAAGAAGAGCTGGTCCTGAAGCTCACAACCGTAACAGCCACCAGACAAGCTTCAGTGGCCGGCCCTTCACATCCAGACTTGCCTGAGAGGACCCACCTCTGAGTGTCCAGTGGTCAGTTGCCCCAGGATGGGGACCACAGCCAGAGCAGCCTTGGTCTTGACCTATTTGGCTGTTGCTTCTGCTGCCTCTGAGGGAGGTGAGTTGGGGGATCAGCACTTAGGAGGGGGTCTGGGCTTGCATGGCAGGGGTCTGGGTCCAGGCATCCCAGACGGCTCATCACTAGCAGAGTGATTCTCCGTTTGGCTTTCCTTTTCTGAGCAGGCCCAAAGTGGGCCTAGGCCAGTGGAGCCTTTAACCAAGGAGGCAGAGAGCAGGGGCACAGAAGGAGAGGGGTTCCTAGAAACTGCTGCCAAGAAACACAGAATCCCAGTCAAATAGACAACTGAGTGGGGGGTGGGTTCACAGAGTGAGGGTCTCCTGCTGATGAGGATGTAGGGAGGTGGCTGGTGGGAGAGGCAAGGGAGGGAAAAGGGGCCCCCAGGCTGCTCAAAACCGGATTGCTGGCCCAGCAAGCCTCGACTGACTCCCTGTCTGATTAGAGGAGTTGAGGGGTGTCCATCCACAGACCCACCCTCCATCCAGCACAAACACATTCTTTATCTGCTTTGATGCCTGAACAAAACAGGAACCCCTCAATGCTATGGGTGGAAACTAAGAAAAAAAGGAAAAGAAAAGGAAAAAAACCACCCAGGGCACTCCTGCAGGAAGCTGCTGAGGATGTCAGCAAATCTGTCCACTTCTCTGTGAAGCCCCATGCCATCATTCTTCCCAGCTCCTGGTCTTTTGTGTCTGCAGATCACCTACAAGTGACCCTTCCCTGTGCCTGTCCCAGTCCCCCAGGCCCTAAATTGAGACCTAAACTAAGGCGGAGCTGAGACTGGCTGAAGGGGAAGCACTCAACCTTCAGGAAGCCTCCTTAACCAAAGGCCTAAAGATGTTTCAAGGGCCTGGAGT
Task1_train_1535
This alteration occurs within gene ECM1 (extracellular matrix protein 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Lipid proteinosis
CCTGACTTGCCCTTCTTCCCTCCAGGCTTCACGGCTACAGGACAGAGGCAGCTGAGGCCAGAGCACTTTCAAGAAGGTAAGAGTTTGGGGGAGCAGCATGGGATTGGGACTCCAGGAGGCACTGTGGGCTCTGATGTCTCCCCTCTTGCTTCTAGTTGGCTACGCAGCTCCCCCCTCCCCACCCCTATCCCGAAGCCTCCCCATGGATCACCCTGACTCCTCTCAGCATGGCCCTCCCTTTGAGGGACAGAGTCAAGGTAAGGTCACCATCCCATGCCCTCCTCAGTGACCCTCCAGGTTTCTAATCTGGCCTATATCCCACTTTTCAGGTGGAAAGGAGGGAAGAGGCCCTCGCCCCCACTCCCAGCCCTGGCTAGGAGAAAGGGTGGGCTGCTCACACATTCCCCCTTCTATAGTGCAGCCCCCTCCCTCTCAGGAGGCCACCCCTCTCCAACAGGAAAAGCTGCTACCTGCCCAACTCCCTGCTGAAAAGGAAGGTGAGCGCTTGCCCACCCTCCCTCACCTCTATCCCACTATGGATCCTGTTGACACCAGGCTGATCCCTGCTCCTTGGTGCCCTCACCCCTATCTTGCAGTGGGTCCCCCTCTCCCTCAGGAAGCTGTCCCCCTCCAAAAAGAGCTGCCCTCTCTCCAGCACCCCAATGAACAGAAGGAAGGTAAGCAGCTCCCTCTCTTCTTTACCCACCTTTACCTCATGGCCTTCCCCCAGAGCATGGGCTTCGGGGCAGACAAGACGGTGGGCTCTGCCACTCACCAGTTGTATAACCTTGGGTAAGTTACATACTTCTCCAAGCCTTTGTTTCTTCATCTGTAAAATTGAGGATATACCTGTTTTAGAAAGTTATGTGATTAGATGTGCAAAAATAGCATCTATTTTCACTTGCTTCTCTGCTGAGTTCTTCTTTGTGCATGTAAACTAGCCAGGCTTTCTCTGCTAGAGATGGCCATCCCAACATGGCTTTTGCTTACTCCTTCTACCCAGTAGACCCACCTCTTCCATATCAGGAGGAGATAATCATCCATTCCATGCCGAGAGAGGGTGAGTGACAGCTTTGGTCTGTCCATCCTCCTGCCTTAGTGCTCAGGACCCTGGGGAGAGGAGCAGGAAGCCCGAGCCTTGAGAAGCAGGAGGAGGTGGGGGCAGGCTGTGAGCTGACACCTTTCACACCTCGCTTCTCTTTTCCTTTCAGTTATTTTAAAAGGAAGAGCCACAAATTGTTCTTTCTCATTTCCACTATATCCTCCCAACCCTTTCTCCTCCACCCCAGATTCTTTCAATCCTCCCAGCTCATCCAGCCTTTGTGGGTTCCTTCACATGTCCCCGCTTCCCACTGTTTTCCCCATTCCAGGAACGCCAGCTCCATTTGGGGACCAGAGCCATCCAGAACCTGAGTCCTGGAATGCAGCCCAGCACTGCCAACAGGACCGGTCCCAAGGGGGCTGGGGCCACCGGCTGGATGGCTTCCCCCCTGGGCGGCCTTCTCCAGACAATCTGAACCAAATCTGCCTTCCTAACCGTCAGCATGTGGTATATGGTCCCTGGAACCTACCACAGTCCAGCTACTCCCACCTCACTCGCCAGGGTGAGACCCTCAATTTCCTGGAGATTGGATATTCCCGCTGCTGCCACTGCCGCAGCCACACAAACCGCCTAGAGTGTGCCAAACTTGTGGTAAGGTTGGGTTCTTGATGCCGGGGGGTGTCCTTTAACCCCAGACAGTATGTGTGTTTTAAGGGTTAGAGCACTAGGCCTGGGTCTGGAGGAACCTCAGGTCCCGTTCACTGGCCCTACCCTGGGCCTCCCCAATGTGCCAGGGGAGCAGAGGACAACCACTGTCTCTTCTTTATCTGCCTGCCCAGTGTCCTTTCCTGGAGCCTGGGAGGAAGGCAGGAATGTGGAAAGTGGGCTGATCCTCCCCTCTTGCTCTAGTGGGAGGAAGCAATGAGCCGATTCTGTGAGGCCGAGTTCTCGGTCAAGACCCGACCCCACTGGTGCTGCACGCGGCAGGGGGAGGCTCGGTTCTCCTGCTTCCAGGAGGAAGCTCCCCAGCCACACTACCAGCTCCGGGCCTGCCCCAGCCATCAGCCTGATATTTCCTCGGGTCTTGAGCTGCCTTTCCCTCCTGGGGTGCCCACATTGGACAATATCAAGAACATCTGCCACCTGAGGCGCTTCCGCTCTGTGCCACGCAACCTGCCAGCTACTGACCCCCTACAAAGGGAGCTGCTGGCACTGATCCAGCTGGAGAGGGAGTTCCAGCGCTGCTGCCGCCAGGGGAACAATCACACCTGTACATGGAAGGCCGTAAGTGGGCGTCCCAGCCTCCCTGAGAGCCTGTTTGCCTGCCTGCCCATCTTCGACCTCTGATCCTGCCAGTCCATCCATCCATGTACCCCCCCTGCTGTGAGTGCGTCCACCCGTTCATCTGCTTGTGGCTGTCCGTCCATCCATTGTGTTTGTCACCTGAGTTTGTTCATCTTGAGCTTCGTACTACACTTCTGGCCTCCTCCACTCATGATCCACACACGCATCTGTCTACCATCCATCCATCCGTCCAGCTCTGGCCTCACCTGACCTTCTCCATCCACTGTTCCAGCTCATCTCCCGGCACCAGCTTGGAACCTCATCCAGGCTTCCACCCGTCCACCTTCCCAAGCCCACACATCAACAGTTGCCTCCTAACCCTCTACTTTTTTGCCATTCCCTTTGGGCCTCTCGGGCTGGGAGCCCCTCATCTAGTTGCCAGGGACGATAAGGGAAGTCGATGGTCAGGAGAGAAGGGGCCAAGTGTCCAGCTTCTGACTTCCCTCTCTCTGGTCCACAGTGGGAGGATACCCTTGACAAATACTGTGACCGGGAGTATGCTGTGAAGACCCACCACCACTTGTGTTGCCGCCACCCTCCCAGCCCTACTCGGGATGAGTGCTTTGCCCGTCGGGCTCCTTACCCCAACTATGACCGGGACATCTTGACCATTGACATCGGTCGAGTCACCCCCAACCTCATGGGCCACCTCTGTGGAAACCAAAGAGTTCTCACCAAGCAGTAAGTTGCCTAGTCCTTCCCCACTCTCTTCCTTTCCCGAAAACTTCCTTTTGGGACACCTTTGGGAAAAGCAAAATCATGATATCCCAACCCCATCTGATGCCAGAAGATGCCCAAAGACCCTAACCCCTGCCCCTTTCACACCAACATAGTAAACATATTCCTGGGCTGATCCACAACATGACTGCCCGCTGCTGTGACCTGCCATTTCCAGAACAGGCCTGCTGTGCAGAGGAGGAGGTGAGTGTGTGGAGTCTAGTCTCCAGAGGAATGCAGGGGAGGGGAGGGAAAGAGCTAGAACTGCAGGCCACCCCTTCTCTTTAGTACCTCAAACCAGCCTTTGGTTATAATGACTAGTGGGGGAGGTGTTTTTTTCTTGGTTCCAGAAAAGTCTTCACTCTGACCTGGCCTGCTCCCCATCTCTAAGTTCCTATTATGCCTTCTCCGGGCCACAAGCTTCTGGCATTTCCAGATGTACACATTTGTCAGTCACAAGGAATCCAGCTGTGCAAGGCAGTCTTGTACTCTCTCTGGGCCCCAGGAGGGGAACGAGGGAGAGAGCAGTAGAAGCTGATGAAAGGGGGACTTTGGCACCCAAGTATCTACATCTGTCCTTGGACCACCTCCCCACCCCATCATCTGTTTTACTTTTCTCATTCATCAGAAATTAACCTTCATCAATGATCTGTGTGGTCCCCGACGTAACATCTGGCGAGACCCTGCCCTCTGCTGTTACCTGAGTCCTGGGGATGAACAGGTCAACTGCTTCAACATCAATTATCTGAGGAACGTGGCTCTAGTGTCTGGAGACACTGAGAACGCCAAGGGCCAGGGGGAGCAGGGCTCAACTGGAGGAACAAATATCAGCTCCACCTCTGAGCCCAAGGAAGAATGAGTCACCCCAGAGCCCTAGAGGGTCAGATGGGGGGAACCCCACCCTGCCCCACCCATCTGAACACTCATTACACTAAACACCTCTTGGATTTGGTGTCCTCATTGTCTATCTAATGTCTCACCCGCAGTGTTTTA
CCTGACTTGCCCTTCTTCCCTCCAGGCTTCACGGCTACAGGACAGAGGCAGCTGAGGCCAGAGCACTTTCAAGAAGGTAAGAGTTTGGGGGAGCAGCATGGGATTGGGACTCCAGGAGGCACTGTGGGCTCTGATGTCTCCCCTCTTGCTTCTAGTTGGCTACGCAGCTCCCCCCTCCCCACCCCTATCCCGAAGCCTCCCCATGGATCACCCTGACTCCTCTCAGCATGGCCCTCCCTTTGAGGGACAGAGTCAAGGTAAGGTCACCATCCCATGCCCTCCTCAGTGACCCTCCAGGTTTCTAATCTGGCCTATATCCCACTTTTCAGGTGGAAAGGAGGGAAGAGGCCCTCGCCCCCACTCCCAGCCCTGGCTAGGAGAAAGGGTGGGCTGCTCACACATTCCCCCTTCTATAGTGCAGCCCCCTCCCTCTCAGGAGGCCACCCCTCTCCAACAGGAAAAGCTGCTACCTGCCCAACTCCCTGCTGAAAAGGAAGGTGAGCGCTTGCCCACCCTCCCTCACCTCTATCCCACTATGGATCCTGTTGACACCAGGCTGATCCCTGCTCCTTGGTGCCCTCACCCCTATCTTGCAGTGGGTCCCCCTCTCCCTCAGGAAGCTGTCCCCCTCCAAAAAGAGCTGCCCTCTCTCCAGCACCCCAATGAACAGAAGGAAGGTAAGCAGCTCCCTCTCTTCTTTACCCACCTTTACCTCATGGCCTTCCCCCAGAGCATGGGCTTCGGGGCAGACAAGACGGTGGGCTCTGCCACTCACCAGTTGTATAACCTTGGGTAAGTTACATACTTCTCCAAGCCTTTGTTTCTTCATCTGTAAAATTGAGGATATACCTGTTTTAGAAAGTTATGTGATTAGATGTGCAAAAATAGCATCTATTTTCACTTGCTTCTCTGCTGAGTTCTTCTTTGTGCATGTAAACTAGCCAGGCTTTCTCTGCTAGAGATGGCCATCCCAACATGGCTTTTGCTTACTCCTTCTACCCAGTAGACCCACCTCTTCCATATCAGGAGGAGATAATCATCCATTCCATGCCGAGAGAGGGTGAGTGACAGCTTTGGTCTGTCCATCCTCCTGCCTTAGTGCTCAGGACCCTGGGGAGAGGAGCAGGAAGCCCGAGCCTTGAGAAGCAGGAGGAGGTGGGGGCAGGCTGTGAGCTGACACCTTTCACACCTCGCTTCTCTTTTCCTTTCAGTTATTTTAAAAGGAAGAGCCACAAATTGTTCTTTCTCATTTCCACTATATCCTCCCAACCCTTTCTCCTCCACCCCAGATTCTTTCAATCCTCCCAGCTCATCCAGCCTTTGTGGGTTCCTTCACATGTCCCCGCTTCCCACTGTTTTCCCCATTCCAGGAACGCCAGCTCCATTTGGGGACCAGAGCCATCCAGAACCTGAGTCCTGGAATGCAGCCCAGCACTGCCAACAGGACCGGTCCCAAGGGGGCTGGGGCCACCGGCTGGATGGCTTCCCCCCTGGGCGGCCTTCTCCAGACAATCTGAACCAAATCTGCCTTCCTAACCGTCAGCATGTGGTATATGGTCCCTGGAACCTACCACAGTCCAGCTACTCCCACCTCACTCGCCAGGGTGAGACCCTCAATTTCCTGGAGATTGGATATTCCCGCTGCTGCCACTGCCGCAGCCACACAAACCGCCTAGAGTGTGCCAAACTTGTGGTAAGGTTGGGTTCTTGATGCCGGGGGGTGTCCTTTAACCCCAGACAGTATGTGTGTTTTAAGGGTTAGAGCACTAGGCCTGGGTCTGGAGGAACCTCAGGTCCCGTTCACTGGCCCTACCCTGGGCCTCCCCAATGTGCCAGGGGAGCAGAGGACAACCACTGTCTCTTCTTTATCTGCCTGCCCAGTGTCCTTTCCTGGAGCCTGGGAGGAAGGCAGGAATGTGGAAAGTGGGCTGATCCTCCCCTCTTGCTCTAGTGGGAGGAAGCAATGAGCCGATTCTGTGAGGCCGAGTTCTCGGTCAAGACCCGACCCCACTGGTGCTGCACGCGGCAGGGGGAGGCTCGGTTCTCCTACTTCCAGGAGGAAGCTCCCCAGCCACACTACCAGCTCCGGGCCTGCCCCAGCCATCAGCCTGATATTTCCTCGGGTCTTGAGCTGCCTTTCCCTCCTGGGGTGCCCACATTGGACAATATCAAGAACATCTGCCACCTGAGGCGCTTCCGCTCTGTGCCACGCAACCTGCCAGCTACTGACCCCCTACAAAGGGAGCTGCTGGCACTGATCCAGCTGGAGAGGGAGTTCCAGCGCTGCTGCCGCCAGGGGAACAATCACACCTGTACATGGAAGGCCGTAAGTGGGCGTCCCAGCCTCCCTGAGAGCCTGTTTGCCTGCCTGCCCATCTTCGACCTCTGATCCTGCCAGTCCATCCATCCATGTACCCCCCCTGCTGTGAGTGCGTCCACCCGTTCATCTGCTTGTGGCTGTCCGTCCATCCATTGTGTTTGTCACCTGAGTTTGTTCATCTTGAGCTTCGTACTACACTTCTGGCCTCCTCCACTCATGATCCACACACGCATCTGTCTACCATCCATCCATCCGTCCAGCTCTGGCCTCACCTGACCTTCTCCATCCACTGTTCCAGCTCATCTCCCGGCACCAGCTTGGAACCTCATCCAGGCTTCCACCCGTCCACCTTCCCAAGCCCACACATCAACAGTTGCCTCCTAACCCTCTACTTTTTTGCCATTCCCTTTGGGCCTCTCGGGCTGGGAGCCCCTCATCTAGTTGCCAGGGACGATAAGGGAAGTCGATGGTCAGGAGAGAAGGGGCCAAGTGTCCAGCTTCTGACTTCCCTCTCTCTGGTCCACAGTGGGAGGATACCCTTGACAAATACTGTGACCGGGAGTATGCTGTGAAGACCCACCACCACTTGTGTTGCCGCCACCCTCCCAGCCCTACTCGGGATGAGTGCTTTGCCCGTCGGGCTCCTTACCCCAACTATGACCGGGACATCTTGACCATTGACATCGGTCGAGTCACCCCCAACCTCATGGGCCACCTCTGTGGAAACCAAAGAGTTCTCACCAAGCAGTAAGTTGCCTAGTCCTTCCCCACTCTCTTCCTTTCCCGAAAACTTCCTTTTGGGACACCTTTGGGAAAAGCAAAATCATGATATCCCAACCCCATCTGATGCCAGAAGATGCCCAAAGACCCTAACCCCTGCCCCTTTCACACCAACATAGTAAACATATTCCTGGGCTGATCCACAACATGACTGCCCGCTGCTGTGACCTGCCATTTCCAGAACAGGCCTGCTGTGCAGAGGAGGAGGTGAGTGTGTGGAGTCTAGTCTCCAGAGGAATGCAGGGGAGGGGAGGGAAAGAGCTAGAACTGCAGGCCACCCCTTCTCTTTAGTACCTCAAACCAGCCTTTGGTTATAATGACTAGTGGGGGAGGTGTTTTTTTCTTGGTTCCAGAAAAGTCTTCACTCTGACCTGGCCTGCTCCCCATCTCTAAGTTCCTATTATGCCTTCTCCGGGCCACAAGCTTCTGGCATTTCCAGATGTACACATTTGTCAGTCACAAGGAATCCAGCTGTGCAAGGCAGTCTTGTACTCTCTCTGGGCCCCAGGAGGGGAACGAGGGAGAGAGCAGTAGAAGCTGATGAAAGGGGGACTTTGGCACCCAAGTATCTACATCTGTCCTTGGACCACCTCCCCACCCCATCATCTGTTTTACTTTTCTCATTCATCAGAAATTAACCTTCATCAATGATCTGTGTGGTCCCCGACGTAACATCTGGCGAGACCCTGCCCTCTGCTGTTACCTGAGTCCTGGGGATGAACAGGTCAACTGCTTCAACATCAATTATCTGAGGAACGTGGCTCTAGTGTCTGGAGACACTGAGAACGCCAAGGGCCAGGGGGAGCAGGGCTCAACTGGAGGAACAAATATCAGCTCCACCTCTGAGCCCAAGGAAGAATGAGTCACCCCAGAGCCCTAGAGGGTCAGATGGGGGGAACCCCACCCTGCCCCACCCATCTGAACACTCATTACACTAAACACCTCTTGGATTTGGTGTCCTCATTGTCTATCTAATGTCTCACCCGCAGTGTTTTA
Task1_train_1536
Assess the clinical impact of this variant on gene ADAMTSL4 (ADAMTS like 4), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; not provided
GCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCT
GCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCACCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCT
Task1_train_1537
Consider this mutation in CTSK (cathepsin K) on Chromosome 1. Is this a benign change or a disease-causing variant?
Pathogenic; Pyknodysostosis
TCCGCCTCACAGGGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCGCCTGCCTCAGCCTCTCAGAGTGTTGGGATTACAGGCGTGAGCTAAGGCGCCCGGCCCTAATTTTTTGTTGTTCTTTCTTGTGCTGTGGTGTCATAACCACTGCCTAATTCAAGGTCAGGAAGATTTACCCCTGTGTTTTCTAAGAGTTTTAGCTCTTACCTTTAGGTTTTTAGCCATTTTGAATTAATTTTTTATATGAGGTGGAGTAGTGTTCCAACTTCATTCTTCTCCATGTTGTTATTCAGTTGTCCAGCATGACTTTTTGAAAAGACTATTCTTTCCCACCTTGAATTGTCTTGGCACCCCATGTCAATTGAATGTGGTTTATTTCTACACCCTTAATTCTATTCCATTGATCTGTATGCCTTGACTACTATTGGTTTGAAGTTAAGTTTTGAAATTGAGAAGTGCAAGTCCTCCAACTTTGTTCTTTTTCAAGGTTGTTTTGGCTATTCTGAAGCCCTTGAATGTCCATATGAATCTTAGAGCCAGCTTGCCAATTTCTGCAAGAAAGCCAGCTGAGATTTTAATACAAATTGTGTTAATTCTGTAGATCAATTTGGAGATTATTGCCATATTAACAACAGTGTCATGCTGGGTGCAGTGGCCCACACCTATAATTCCAGCACTTTGGGAGGCCGAGGCGGCCAACATAGGGAGACAAGCTGGTCTCAAACTGCTGGGCTCAGGCGATCCTCTCACCTCGGCCTCCCACAAAATAATTTTTAAAAAATCAGCTAAGCATGGTGGTGTTCACCGTAGTCCAAGCTACTTAGGAGACTGAGGTGGGAAGAACTCTTGAGCCCAGGAGATCAAGGCTGCAGTGAGCTATGAGTGCCACTGACTCCAGCCTGGGCAACAGAGGGAGACCCTGACGAAAGAGAGAGAAAGACAGAGCGAGAGAGAGAGAAAAGAAAAAATAACCTTAAAATGTTTTTCAAGACCCAAGTTTCCATGTCACTTAATTTAGTCTCCCCTCAGGCAGATTAAACACTGAGATCTCCTTATATCCACTTAATCCCAGAAATGTAGTACAGTTCTTGGCACAGAGTAAGAACTCAATATATATTGGCTGAAGGAATGAACAAATAAATGAATTGGGATGAAATGTTTATGTGACAGTCTCTACAACCAGACTGTGAGCGCATCAAGTACATAGAAGATGTTCTATTCATCTTTTTTCCTCCAGCACCTAACACAGTATCCAACACAAAATGAATGTGTACTAGATGCTATTTATTAAACTGTAGACAGGAGATAAATACTTTATTTCAAAAGTGCAAAGAAGGGAAGACAAATCACATTTCTTTTTATCATGTAAACTTGTACCAAAGACTTATGAATAGATTTATGAATTGGAGTAGAAAACATAGACATTTCTACCTTGAGGATATAGAAGGGAACTTAGGAAGTGAGAAGTCAGATTACCCTAGTCCTCTAGGGTGCTTAAAGCTAACTAGTCCCGTGAATGAGAATCTAACCTATGTGAAAATCTCCAGCCTGTACCTGTACAGCATCAGCCCTGGGACAACACAGTCAGGGGCAGGCTGTAGTCACATCTCTTAGCCTAAGAGTACACAGCTGTCAGGGAAAGTCCTGATGGCCACAGTGAAAAAGGTCATGGGTGGAGAGAAGCAAAGTAGGAAGGATCATTTGAAGCACAAACAAATGGGGAAACTGAACAGACAATCTCAGTATCACCACATCTGCTTCAAAAATAGCACACCAACTCCCTTCCAAAGTGCATCGTTACACTGCACCATCGTGGAAGAAATGGAAGAGCAGGATGGATTTGGCTGGCTGGAGTCACATCTTGGGGAAGCTGGCCAGGTTGGCAATGCCACAGGCGTTGTTCTTATTTCGAGCCATGAGGATATATCCTTTGTTTCCCCAGTTTTCTCCCCAGCTGTAAGACCAATCAAGAAAAATACTTAGTACTCTCAGTTTATTTATTCATTAAAATATTTACTGAGTATTGTGCGAGGTACTGATGGTACACAAAAATGAATATGATGTTTTTTAACTTTAAAGAGTTTAAAGTCAAGAAATAGGGAGAAGGCATAATACTGTAGGTATCAAAGGAGGGAAAGATTCCTTCTGATCAAGAGAATCTTAGAGGCTTGATGTAAGAGGTGGCATTTGAGCTGAGCCAAAAGGCTAAGTAGAATTTCGACCTGTGGGAAGGGGATGCCAGTGGAAGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCT
TCCGCCTCACAGGGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCGCCTGCCTCAGCCTCTCAGAGTGTTGGGATTACAGGCGTGAGCTAAGGCGCCCGGCCCTAATTTTTTGTTGTTCTTTCTTGTGCTGTGGTGTCATAACCACTGCCTAATTCAAGGTCAGGAAGATTTACCCCTGTGTTTTCTAAGAGTTTTAGCTCTTACCTTTAGGTTTTTAGCCATTTTGAATTAATTTTTTATATGAGGTGGAGTAGTGTTCCAACTTCATTCTTCTCCATGTTGTTATTCAGTTGTCCAGCATGACTTTTTGAAAAGACTATTCTTTCCCACCTTGAATTGTCTTGGCACCCCATGTCAATTGAATGTGGTTTATTTCTACACCCTTAATTCTATTCCATTGATCTGTATGCCTTGACTACTATTGGTTTGAAGTTAAGTTTTGAAATTGAGAAGTGCAAGTCCTCCAACTTTGTTCTTTTTCAAGGTTGTTTTGGCTATTCTGAAGCCCTTGAATGTCCATATGAATCTTAGAGCCAGCTTGCCAATTTCTGCAAGAAAGCCAGCTGAGATTTTAATACAAATTGTGTTAATTCTGTAGATCAATTTGGAGATTATTGCCATATTAACAACAGTGTCATGCTGGGTGCAGTGGCCCACACCTATAATTCCAGCACTTTGGGAGGCCGAGGCGGCCAACATAGGGAGACAAGCTGGTCTCAAACTGCTGGGCTCAGGCGATCCTCTCACCTCGGCCTCCCACAAAATAATTTTTAAAAAATCAGCTAAGCATGGTGGTGTTCACCGTAGTCCAAGCTACTTAGGAGACTGAGGTGGGAAGAACTCTTGAGCCCAGGAGATCAAGGCTGCAGTGAGCTATGAGTGCCACTGACTCCAGCCTGGGCAACAGAGGGAGACCCTGACGAAAGAGAGAGAAAGACAGAGCGAGAGAGAGAGAAAAGAAAAAATAACCTTAAAATGTTTTTCAAGACCCAAGTTTCCATGTCACTTAATTTAGTCTCCCCTCAGGCAGATTAAACACTGAGATCTCCTTATATCCACTTAATCCCAGAAATGTAGTACAGTTCTTGGCACAGAGTAAGAACTCAATATATATTGGCTGAAGGAATGAACAAATAAATGAATTGGGATGAAATGTTTATGTGACAGTCTCTACAACCAGACTGTGAGCGCATCAAGTACATAGAAGATGTTCTATTCATCTTTTTTCCTCCAGCACCTAACACAGTATCCAACACAAAATGAATGTGTACTAGATGCTATTTATTAAACTGTAGACAGGAGATAAATACTTTATTTCAAAAGTGCAAAGAAGGGAAGACAAATCACATTTCTTTTTATCATGTAAACTTGTACCAAAGACTTATGAATAGATTTATGAATTGGAGTAGAAAACATAGACATTTCTACCTTGAGGATATAGAAGGGAACTTAGGAAGTGAGAAGTCAGATTACCCTAGTCCTCTAGGGTGCTTAAAGCTAACTAGTCCCGTGAATGAGAATCTAACCTATGTGAAAATCTCCAGCCTGTACCTGTACAGCATCAGCCCTGGGACAACACAGTCAGGGGCAGGCTGTAGTCACATCTCTTAGCCTAAGAGTACACAGCTGTCAGGGAAAGTCCTGATGGCCACAGTGAAAAAGGTCATGGGTGGAGAGAAGCAAAGTAGGAAGGATCATTTGAAGCACAAACAAATGGGGAAACTGAACAGACAATCTCAGTATCACCACATCTGCTTCAAAAATAGCACACCAACTCCCTTCCAAAGTGCATCGTTACACTGCACCATCGTGGAAGAAATGGAAGAGCAGGATGGATTTGGCTGGCTGGAGTCACATCTTGGGGAAGCTGGCCAGGTTGGCAATGCCACAGGCGTTGTTCTTATTTCGAGCCATGAGGATATATCCTTTGTTTTCCCAGTTTTCTCCCCAGCTGTAAGACCAATCAAGAAAAATACTTAGTACTCTCAGTTTATTTATTCATTAAAATATTTACTGAGTATTGTGCGAGGTACTGATGGTACACAAAAATGAATATGATGTTTTTTAACTTTAAAGAGTTTAAAGTCAAGAAATAGGGAGAAGGCATAATACTGTAGGTATCAAAGGAGGGAAAGATTCCTTCTGATCAAGAGAATCTTAGAGGCTTGATGTAAGAGGTGGCATTTGAGCTGAGCCAAAAGGCTAAGTAGAATTTCGACCTGTGGGAAGGGGATGCCAGTGGAAGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCT
Task1_train_1538
The gene CTSK (cathepsin K), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Pyknodysostosis
CCGCCTCACAGGGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCGCCTGCCTCAGCCTCTCAGAGTGTTGGGATTACAGGCGTGAGCTAAGGCGCCCGGCCCTAATTTTTTGTTGTTCTTTCTTGTGCTGTGGTGTCATAACCACTGCCTAATTCAAGGTCAGGAAGATTTACCCCTGTGTTTTCTAAGAGTTTTAGCTCTTACCTTTAGGTTTTTAGCCATTTTGAATTAATTTTTTATATGAGGTGGAGTAGTGTTCCAACTTCATTCTTCTCCATGTTGTTATTCAGTTGTCCAGCATGACTTTTTGAAAAGACTATTCTTTCCCACCTTGAATTGTCTTGGCACCCCATGTCAATTGAATGTGGTTTATTTCTACACCCTTAATTCTATTCCATTGATCTGTATGCCTTGACTACTATTGGTTTGAAGTTAAGTTTTGAAATTGAGAAGTGCAAGTCCTCCAACTTTGTTCTTTTTCAAGGTTGTTTTGGCTATTCTGAAGCCCTTGAATGTCCATATGAATCTTAGAGCCAGCTTGCCAATTTCTGCAAGAAAGCCAGCTGAGATTTTAATACAAATTGTGTTAATTCTGTAGATCAATTTGGAGATTATTGCCATATTAACAACAGTGTCATGCTGGGTGCAGTGGCCCACACCTATAATTCCAGCACTTTGGGAGGCCGAGGCGGCCAACATAGGGAGACAAGCTGGTCTCAAACTGCTGGGCTCAGGCGATCCTCTCACCTCGGCCTCCCACAAAATAATTTTTAAAAAATCAGCTAAGCATGGTGGTGTTCACCGTAGTCCAAGCTACTTAGGAGACTGAGGTGGGAAGAACTCTTGAGCCCAGGAGATCAAGGCTGCAGTGAGCTATGAGTGCCACTGACTCCAGCCTGGGCAACAGAGGGAGACCCTGACGAAAGAGAGAGAAAGACAGAGCGAGAGAGAGAGAAAAGAAAAAATAACCTTAAAATGTTTTTCAAGACCCAAGTTTCCATGTCACTTAATTTAGTCTCCCCTCAGGCAGATTAAACACTGAGATCTCCTTATATCCACTTAATCCCAGAAATGTAGTACAGTTCTTGGCACAGAGTAAGAACTCAATATATATTGGCTGAAGGAATGAACAAATAAATGAATTGGGATGAAATGTTTATGTGACAGTCTCTACAACCAGACTGTGAGCGCATCAAGTACATAGAAGATGTTCTATTCATCTTTTTTCCTCCAGCACCTAACACAGTATCCAACACAAAATGAATGTGTACTAGATGCTATTTATTAAACTGTAGACAGGAGATAAATACTTTATTTCAAAAGTGCAAAGAAGGGAAGACAAATCACATTTCTTTTTATCATGTAAACTTGTACCAAAGACTTATGAATAGATTTATGAATTGGAGTAGAAAACATAGACATTTCTACCTTGAGGATATAGAAGGGAACTTAGGAAGTGAGAAGTCAGATTACCCTAGTCCTCTAGGGTGCTTAAAGCTAACTAGTCCCGTGAATGAGAATCTAACCTATGTGAAAATCTCCAGCCTGTACCTGTACAGCATCAGCCCTGGGACAACACAGTCAGGGGCAGGCTGTAGTCACATCTCTTAGCCTAAGAGTACACAGCTGTCAGGGAAAGTCCTGATGGCCACAGTGAAAAAGGTCATGGGTGGAGAGAAGCAAAGTAGGAAGGATCATTTGAAGCACAAACAAATGGGGAAACTGAACAGACAATCTCAGTATCACCACATCTGCTTCAAAAATAGCACACCAACTCCCTTCCAAAGTGCATCGTTACACTGCACCATCGTGGAAGAAATGGAAGAGCAGGATGGATTTGGCTGGCTGGAGTCACATCTTGGGGAAGCTGGCCAGGTTGGCAATGCCACAGGCGTTGTTCTTATTTCGAGCCATGAGGATATATCCTTTGTTTCCCCAGTTTTCTCCCCAGCTGTAAGACCAATCAAGAAAAATACTTAGTACTCTCAGTTTATTTATTCATTAAAATATTTACTGAGTATTGTGCGAGGTACTGATGGTACACAAAAATGAATATGATGTTTTTTAACTTTAAAGAGTTTAAAGTCAAGAAATAGGGAGAAGGCATAATACTGTAGGTATCAAAGGAGGGAAAGATTCCTTCTGATCAAGAGAATCTTAGAGGCTTGATGTAAGAGGTGGCATTTGAGCTGAGCCAAAAGGCTAAGTAGAATTTCGACCTGTGGGAAGGGGATGCCAGTGGAAGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTC
CCGCCTCACAGGGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCGCCTGCCTCAGCCTCTCAGAGTGTTGGGATTACAGGCGTGAGCTAAGGCGCCCGGCCCTAATTTTTTGTTGTTCTTTCTTGTGCTGTGGTGTCATAACCACTGCCTAATTCAAGGTCAGGAAGATTTACCCCTGTGTTTTCTAAGAGTTTTAGCTCTTACCTTTAGGTTTTTAGCCATTTTGAATTAATTTTTTATATGAGGTGGAGTAGTGTTCCAACTTCATTCTTCTCCATGTTGTTATTCAGTTGTCCAGCATGACTTTTTGAAAAGACTATTCTTTCCCACCTTGAATTGTCTTGGCACCCCATGTCAATTGAATGTGGTTTATTTCTACACCCTTAATTCTATTCCATTGATCTGTATGCCTTGACTACTATTGGTTTGAAGTTAAGTTTTGAAATTGAGAAGTGCAAGTCCTCCAACTTTGTTCTTTTTCAAGGTTGTTTTGGCTATTCTGAAGCCCTTGAATGTCCATATGAATCTTAGAGCCAGCTTGCCAATTTCTGCAAGAAAGCCAGCTGAGATTTTAATACAAATTGTGTTAATTCTGTAGATCAATTTGGAGATTATTGCCATATTAACAACAGTGTCATGCTGGGTGCAGTGGCCCACACCTATAATTCCAGCACTTTGGGAGGCCGAGGCGGCCAACATAGGGAGACAAGCTGGTCTCAAACTGCTGGGCTCAGGCGATCCTCTCACCTCGGCCTCCCACAAAATAATTTTTAAAAAATCAGCTAAGCATGGTGGTGTTCACCGTAGTCCAAGCTACTTAGGAGACTGAGGTGGGAAGAACTCTTGAGCCCAGGAGATCAAGGCTGCAGTGAGCTATGAGTGCCACTGACTCCAGCCTGGGCAACAGAGGGAGACCCTGACGAAAGAGAGAGAAAGACAGAGCGAGAGAGAGAGAAAAGAAAAAATAACCTTAAAATGTTTTTCAAGACCCAAGTTTCCATGTCACTTAATTTAGTCTCCCCTCAGGCAGATTAAACACTGAGATCTCCTTATATCCACTTAATCCCAGAAATGTAGTACAGTTCTTGGCACAGAGTAAGAACTCAATATATATTGGCTGAAGGAATGAACAAATAAATGAATTGGGATGAAATGTTTATGTGACAGTCTCTACAACCAGACTGTGAGCGCATCAAGTACATAGAAGATGTTCTATTCATCTTTTTTCCTCCAGCACCTAACACAGTATCCAACACAAAATGAATGTGTACTAGATGCTATTTATTAAACTGTAGACAGGAGATAAATACTTTATTTCAAAAGTGCAAAGAAGGGAAGACAAATCACATTTCTTTTTATCATGTAAACTTGTACCAAAGACTTATGAATAGATTTATGAATTGGAGTAGAAAACATAGACATTTCTACCTTGAGGATATAGAAGGGAACTTAGGAAGTGAGAAGTCAGATTACCCTAGTCCTCTAGGGTGCTTAAAGCTAACTAGTCCCGTGAATGAGAATCTAACCTATGTGAAAATCTCCAGCCTGTACCTGTACAGCATCAGCCCTGGGACAACACAGTCAGGGGCAGGCTGTAGTCACATCTCTTAGCCTAAGAGTACACAGCTGTCAGGGAAAGTCCTGATGGCCACAGTGAAAAAGGTCATGGGTGGAGAGAAGCAAAGTAGGAAGGATCATTTGAAGCACAAACAAATGGGGAAACTGAACAGACAATCTCAGTATCACCACATCTGCTTCAAAAATAGCACACCAACTCCCTTCCAAAGTGCATCGTTACACTGCACCATCGTGGAAGAAATGGAAGAGCAGGATGGATTTGGCTGGCTGGAGTCACATCTTGGGGAAGCTGGCCAGGTTGGCAATGCCACAGGCGTTGTTCTTATTTCGAGCCATGAGGATATATCCTTTGTTTCTCCAGTTTTCTCCCCAGCTGTAAGACCAATCAAGAAAAATACTTAGTACTCTCAGTTTATTTATTCATTAAAATATTTACTGAGTATTGTGCGAGGTACTGATGGTACACAAAAATGAATATGATGTTTTTTAACTTTAAAGAGTTTAAAGTCAAGAAATAGGGAGAAGGCATAATACTGTAGGTATCAAAGGAGGGAAAGATTCCTTCTGATCAAGAGAATCTTAGAGGCTTGATGTAAGAGGTGGCATTTGAGCTGAGCCAAAAGGCTAAGTAGAATTTCGACCTGTGGGAAGGGGATGCCAGTGGAAGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTC
Task1_train_1539
A mutation found in CTSK (cathepsin K) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; not provided
CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAACTAGCCGGGCGTGGTTGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGT
CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAACTAGCCGGGCGTGGTTGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACTCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGT
Task1_train_1540
This sequence change occurs on Chromosome 1, altering CTSK (cathepsin K). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Pyknodysostosis
ATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGT
ATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACGCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGT
Task1_train_1541
Here’s a variant in CTSK (cathepsin K) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Inborn genetic diseases
ATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGT
ATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACGCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGT
Task1_train_1542
The gene CTSK (cathepsin K) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Pyknodysostosis
CGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAAT
CGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCTCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAAT
Task1_train_1543
This sequence variant lies in CTSK (cathepsin K) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
Pathogenic; not provided
TGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTTGTCTGGCTTCGTTTCGGCAGCAAAGTGTGGGCACACCATCAGGGGTGCTAGATTTATTCCATCGGGATTGCGGAAGTCAGCTCCAGTGATCGGCTGGAAAATTTGGGTAAGAGGAGGAGGCGGGGATAGAAATGCTGAGAGAAGGAAGGGTAGGGAGGAGGGAAGGAGGCAGTGGATTTGCAGTGTTTCTGTGTGTATGCAGCATGTGTGCCAGGGTAGGGAATTACTAGCTATTTAGTCTCACAAGACTGTCTTTGGTGGCAAATAACAAGACCTCAATATCTATTGACTCAAATAGGAGCTTACTTTCTCTTTTGGTGAGTAAAAGGAAGGACACAGCCCTAGTCTCTCCCATCCTTCTTCTTCAATATCTTTATTTTAATATTGGGGGATTATATCTTTTCCTACCCCTTTCCTGTTAGGATTTACCTCTCCAACATTGAAACCTATTTTCATATTTGTGTCTGACTCTCACCTCTGGGATGCGGTAATGAACATAAAAGGCTATAAAAGAATAATGTAATGGAAGCCATAGGCTCCAGAATTCTTTGTATTTTTATAAGCTTGTTGGTTGCAAGTTGTCATTACTTCCAGGCAGAATAGTTTTCCCAGCCTAATGT
TGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACACCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTTGTCTGGCTTCGTTTCGGCAGCAAAGTGTGGGCACACCATCAGGGGTGCTAGATTTATTCCATCGGGATTGCGGAAGTCAGCTCCAGTGATCGGCTGGAAAATTTGGGTAAGAGGAGGAGGCGGGGATAGAAATGCTGAGAGAAGGAAGGGTAGGGAGGAGGGAAGGAGGCAGTGGATTTGCAGTGTTTCTGTGTGTATGCAGCATGTGTGCCAGGGTAGGGAATTACTAGCTATTTAGTCTCACAAGACTGTCTTTGGTGGCAAATAACAAGACCTCAATATCTATTGACTCAAATAGGAGCTTACTTTCTCTTTTGGTGAGTAAAAGGAAGGACACAGCCCTAGTCTCTCCCATCCTTCTTCTTCAATATCTTTATTTTAATATTGGGGGATTATATCTTTTCCTACCCCTTTCCTGTTAGGATTTACCTCTCCAACATTGAAACCTATTTTCATATTTGTGTCTGACTCTCACCTCTGGGATGCGGTAATGAACATAAAAGGCTATAAAAGAATAATGTAATGGAAGCCATAGGCTCCAGAATTCTTTGTATTTTTATAAGCTTGTTGGTTGCAAGTTGTCATTACTTCCAGGCAGAATAGTTTTCCCAGCCTAATGT
Task1_train_1544
An alteration has been detected in PRUNE1 (prune exopolyphosphatase 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
ACAAAACCCAAGACCCTGTCACCCCGATTTTGGGCACTCCAGTTTTAGTATATTTTATTTTATTTATTTATTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAAAGGCGCAATCTCGGCTCACTGCAACCTCCGTCTGCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCATACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGTTAGGTTGGTCTCAAACTCCTAACCTTAGGTGATCCGCCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGCGCCAGCCACCACGCCCAGCCCTGGACTAGATCTTACTTTTAACCTTTATTCTCAAAGCCTCTTCACCTGCAATCATGATTTAGAAGTGTAAGCATTCGGCCGAGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTAGGTGTGGTGGCGCATTCCTGTAATCCCAGCTACTTGTGAGGCTGAGGCATGAGAATCTGGTCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGTATAAGCATTCTTTTACCTATTATGAAAATGGGAAGAAAATAATCAACCAGGGTTGATATGCCCAAGAGCATGCCTTGAATGTATCAGCTACCCCAAATTCCCTTTTTTGACTGTTTGAGTGCCCAAAGAAGATAAGAAATCCGAAGTTTATTTACTGCTCTATAAGTTAACATTGAAGGAGATAGGAGGAAAGAACACTTTTCTACAAACTGGATATAGGTAGAATGCTATAAGCTTAGCTGAAACACTTATGCCATCTATGGAATGAGGACCCATTAGATTATTTGACCTACCTCCTCTGTGAAGATCAATGAGAGGAAGTGTGTGAAGCCCTACATGAGTATAAGGTAGATGGAGAGGCCAGGCACAGTGGCTCATACCTGTTATCCCAGCACTTTGGATCTCGAGCCCAGGAGTTTGAGACCAGCCTGTGCAACATGGCAAAATCCCGTCTCTACAAAAAAATACAAAAAATTAGCTGGGCATGGTGGCGCTTTCCTGTAGTTCCAGCTACTCAGGAGGATCGACTGAACCTAGTAGGAGGTTGAGGCTGCAGGGAGTTGTGATCACGCTACTGCATTCCAGCCTGGGCGACAGAGTGAGACCTGTCTCAAAAATATATATATTATTTAAAAAAAAAAGATAAGTGGAAATGAATAGAGATACTTTTGTTAGTTTCCCATTTTCCTTTCTCTCCAGGAGTCCCGACCTCTACATGTTGTGCTGGGAAATGAAGCCTGTGATTTGGACTCCACAGTGTCTGCTCTTGCCCTGGCTTTTTACCTAGCAAAGGTGGGTAAAAAAACGTAGTACCTAGGATCTGAGTCCCTCAGAACGAAAAGATCTGGATTCAAGACCCAGCTCTACCACTTACCAGCATTTAGCATTGGGTAAATTAAATCCCTTAACTTTGCTGAGTCTCATGCCACCATCCATAAAAACTAAAATGATATTTTGCAGTGTTGCTGTGAGGAAAAAAGTGAGCAAATATATTTCGAGGGATATGTAAACCATAAAGCAATATTCAAACAGTTTATTACTGAGTTCCGTATAGGTATCAGTGATCTAGTGTGTATTCCTCTGCCCAGGTTAGTTCTTGAGGACTAAAAATTCCTTCTCTGCAGCATTGCATCTAGAAATAGGTATTTACCATGAGTTACCTTGTTGACTTTCATGTTATTACTAAGAAGGAGGGAGGGCAAAAGTCATCCTTTCATTTTTATAGACTGGGTACTTATGGCTTTGAGAAAGGTGGTAACTTACCTAAGTATGTCTCCTTTGGTCCCAGTAGTCTTGTTACTTTTTCCTGTCATTATAAAACCTTGTGATACCTTCTTTTCACTTTCCTATCTAGACAACTGAGGCTGAGGAAGTCTTTGTGCCAGTTTTAAATATAAAACGTTCTGAACTACCTCTGCGAGGTGACATTGTCTTCTTTCTTCAGAAGGTTCATATTCCAGAGAGTATCTTGATTTTTCGGGATGAGATTGACCTCCATGCATTATACCAGGCTGGCCAACTCACCCTCATCCTTGTCGACCATCATATCTTATCCAAGTAAGCACAAGGAAATTAAATTGCTACCTATCATGTACCATGCTGGGCTCTGATGAGTGAGATATAAAGAGAGGAAGAAAGAGTTTTTGCTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGATCAGGATTTTGAGACCAGCCTGGACAACATGGCAAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCGTGGTGGCAAGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGAAGGTGGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGAGCGACAGAGCCAGACTCCGTCTCAAAAAAGAAAGAGTTTTTGCTTTCAGGGATCTCATAGGCTAATCATAATTGATAGGTCATATTAGATATAGAAAAACAACACAAAATATTGTCAGTTCTGCAGTTATATGTATGTCTGTGGCATATAGACATACCCTATAATAAAAAGAAATAGAACGTGTTGAGTTCAAACTAAAGGGTAACTCAAAAATCATTTAAATCTGCCTTTGGTATCATTATTTAAGATTTTGTGTGCCGGGTGTGATGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGCCAGATCCATTAAGCTCCAGGAGTTCAAGACCCGCCTGAGCAACATGGCAAAACCATGTCTTTACAAAAAATTTTTAAAAATTAGGCACGGTGGTGCATGCCTATGGTCCCAGCTACTCGGGAGGTTGAGGTGGGAGGATCACTTGAGCCCAGGAGGTCGAATCTGCAGTGAGCCAAGATCACACCACTCCACTCCAAGCCTGGGAGACAGAGGGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAGATTCTGAGACAGATTTATTGTAATAGAAACCTTTGAAAAATGTTTGCAATTCTCTTTTTATTTTTTTACTTATTATTTATTTTTGTACTTACTTATTAAATTTTTTTTAGAGAAGAGGGTCTTGCTATATTGCCCAGGCGGATCTCAAATTCCTAGGCTCATGCTATCTTCCTGCCTCTGCCTCCCTAAGTGCTGGTTTATAGGTGTGAGCCACCACACCTGGCCTGCAACTCTATTTTTAATTTTAATTTTAATTAATTATTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTTCAGTGCAGTGGTGTGATCTCGGCTCACTGCAACAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGTGCGCGCCACCATGCCCAGCTAATTTTTATATTTTTTACTGGAGACAGGGTTTTGCGCTGTTGGCCAGGCTGGCCTGGAACTCCTGACCTCAGATGATCTGCCCACTTTGGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCACACCTGGCCTATTTTTAATTTTTAAAAAGTGGCCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGAGACCTGTCTGACCACTATAGCGAGACCCTGTTCTCTAAAAAAAAATAATAAATACAAAAATCTATAAACATAGTGTGACCTTGTCTCTACTAAAAATAAAAAAATTTGCCAGGTGTGGTAGTGCATGCCTGTAGTCCCAGCTACTTAGGAGGCTGCTGAGGTGGTAGGATCACTTGAGCCTAGGAATTGAGGCTTCAGTAAGCCATGATCACATCACTGTACTCCAGCCTGAGTGACAGGGCAAGAACTTGTCTCCAAAAAAATTTTTTTAAGTTATCAAAAGGGCCAGGTGTGGTGGCTCACACCTGTAAACCCAGCACTTTGGGAGGGTGAAACAGGAGGGT
ACAAAACCCAAGACCCTGTCACCCCGATTTTGGGCACTCCAGTTTTAGTATATTTTATTTTATTTATTTATTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAAAGGCGCAATCTCGGCTCACTGCAACCTCCGTCTGCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCATACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGTTAGGTTGGTCTCAAACTCCTAACCTTAGGTGATCCGCCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGCGCCAGCCACCACGCCCAGCCCTGGACTAGATCTTACTTTTAACCTTTATTCTCAAAGCCTCTTCACCTGCAATCATGATTTAGAAGTGTAAGCATTCGGCCGAGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTAGGTGTGGTGGCGCATTCCTGTAATCCCAGCTACTTGTGAGGCTGAGGCATGAGAATCTGGTCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGTATAAGCATTCTTTTACCTATTATGAAAATGGGAAGAAAATAATCAACCAGGGTTGATATGCCCAAGAGCATGCCTTGAATGTATCAGCTACCCCAAATTCCCTTTTTTGACTGTTTGAGTGCCCAAAGAAGATAAGAAATCCGAAGTTTATTTACTGCTCTATAAGTTAACATTGAAGGAGATAGGAGGAAAGAACACTTTTCTACAAACTGGATATAGGTAGAATGCTATAAGCTTAGCTGAAACACTTATGCCATCTATGGAATGAGGACCCATTAGATTATTTGACCTACCTCCTCTGTGAAGATCAATGAGAGGAAGTGTGTGAAGCCCTACATGAGTATAAGGTAGATGGAGAGGCCAGGCACAGTGGCTCATACCTGTTATCCCAGCACTTTGGATCTCGAGCCCAGGAGTTTGAGACCAGCCTGTGCAACATGGCAAAATCCCGTCTCTACAAAAAAATACAAAAAATTAGCTGGGCATGGTGGCGCTTTCCTGTAGTTCCAGCTACTCAGGAGGATCGACTGAACCTAGTAGGAGGTTGAGGCTGCAGGGAGTTGTGATCACGCTACTGCATTCCAGCCTGGGCGACAGAGTGAGACCTGTCTCAAAAATATATATATTATTTAAAAAAAAAAGATAAGTGGAAATGAATAGAGATACTTTTGTTAGTTTCCCATTTTCCTTTCTCTCCAGGAGTCCCGACCTCTACATGTTGTGCTGGGAAATGAAGCCTGTGATTTGGACTCCACAGTGTCTGCTCTTGCCCTGGCTTTTTACCTAGCAAAGGTGGGTAAAAAAACGTAGTACCTAGGATCTGAGTCCCTCAGAACGAAAAGATCTGGATTCAAGACCCAGCTCTACCACTTACCAGCATTTAGCATTGGGTAAATTAAATCCCTTAACTTTGCTGAGTCTCATGCCACCATCCATAAAAACTAAAATGATATTTTGCAGTGTTGCTGTGAGGAAAAAAGTGAGCAAATATATTTCGAGGGATATGTAAACCATAAAGCAATATTCAAACAGTTTATTACTGAGTTCCGTATAGGTATCAGTGATCTAGTGTGTATTCCTCTGCCCAGGTTAGTTCTTGAGGACTAAAAATTCCTTCTCTGCAGCATTGCATCTAGAAATAGGTATTTACCATGAGTTACCTTGTTGACTTTCATGTTATTACTAAGAAGGAGGGAGGGCAAAAGTCATCCTTTCATTTTTATAGACTGGGTACTTATGGCTTTGAGAAAGGTGGTAACTTACCTAAGTATGTCTCCTTTGGTCCCAGTAGTCTTGTTACTTTTTCCTGTCATTATAAAACCTTGTGATACCTTCTTTTCACTTTCCTATCTAGACAACTGAGGCTGAGGAAGTCTTTGTGACAGTTTTAAATATAAAACGTTCTGAACTACCTCTGCGAGGTGACATTGTCTTCTTTCTTCAGAAGGTTCATATTCCAGAGAGTATCTTGATTTTTCGGGATGAGATTGACCTCCATGCATTATACCAGGCTGGCCAACTCACCCTCATCCTTGTCGACCATCATATCTTATCCAAGTAAGCACAAGGAAATTAAATTGCTACCTATCATGTACCATGCTGGGCTCTGATGAGTGAGATATAAAGAGAGGAAGAAAGAGTTTTTGCTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGATCAGGATTTTGAGACCAGCCTGGACAACATGGCAAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCGTGGTGGCAAGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGAAGGTGGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGAGCGACAGAGCCAGACTCCGTCTCAAAAAAGAAAGAGTTTTTGCTTTCAGGGATCTCATAGGCTAATCATAATTGATAGGTCATATTAGATATAGAAAAACAACACAAAATATTGTCAGTTCTGCAGTTATATGTATGTCTGTGGCATATAGACATACCCTATAATAAAAAGAAATAGAACGTGTTGAGTTCAAACTAAAGGGTAACTCAAAAATCATTTAAATCTGCCTTTGGTATCATTATTTAAGATTTTGTGTGCCGGGTGTGATGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGCCAGATCCATTAAGCTCCAGGAGTTCAAGACCCGCCTGAGCAACATGGCAAAACCATGTCTTTACAAAAAATTTTTAAAAATTAGGCACGGTGGTGCATGCCTATGGTCCCAGCTACTCGGGAGGTTGAGGTGGGAGGATCACTTGAGCCCAGGAGGTCGAATCTGCAGTGAGCCAAGATCACACCACTCCACTCCAAGCCTGGGAGACAGAGGGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAGATTCTGAGACAGATTTATTGTAATAGAAACCTTTGAAAAATGTTTGCAATTCTCTTTTTATTTTTTTACTTATTATTTATTTTTGTACTTACTTATTAAATTTTTTTTAGAGAAGAGGGTCTTGCTATATTGCCCAGGCGGATCTCAAATTCCTAGGCTCATGCTATCTTCCTGCCTCTGCCTCCCTAAGTGCTGGTTTATAGGTGTGAGCCACCACACCTGGCCTGCAACTCTATTTTTAATTTTAATTTTAATTAATTATTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTTCAGTGCAGTGGTGTGATCTCGGCTCACTGCAACAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGTGCGCGCCACCATGCCCAGCTAATTTTTATATTTTTTACTGGAGACAGGGTTTTGCGCTGTTGGCCAGGCTGGCCTGGAACTCCTGACCTCAGATGATCTGCCCACTTTGGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCACACCTGGCCTATTTTTAATTTTTAAAAAGTGGCCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGAGACCTGTCTGACCACTATAGCGAGACCCTGTTCTCTAAAAAAAAATAATAAATACAAAAATCTATAAACATAGTGTGACCTTGTCTCTACTAAAAATAAAAAAATTTGCCAGGTGTGGTAGTGCATGCCTGTAGTCCCAGCTACTTAGGAGGCTGCTGAGGTGGTAGGATCACTTGAGCCTAGGAATTGAGGCTTCAGTAAGCCATGATCACATCACTGTACTCCAGCCTGAGTGACAGGGCAAGAACTTGTCTCCAAAAAAATTTTTTTAAGTTATCAAAAGGGCCAGGTGTGGTGGCTCACACCTGTAAACCCAGCACTTTGGGAGGGTGAAACAGGAGGGT
Task1_train_1545
The gene PRUNE1 (prune exopolyphosphatase 1) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
TTTTTTTTTTATGGAACAGTTCACAAATGTGCATGTCATCCTTGCTCAGCGGCCATGCTAATCTTCTCTGTGTCATTCCAATTTTAGCGCATGTGCTGCTGAAGTGAGCACTGATCTCAGTCTTGAAAGAGGACTAGGTGTTTGCTTGGTGAATTGGGAGGGAGGAGGGAAGGTGGTTAGGAAAGGCATTCCAGGCAGAGGGAGTAATTAATAGAATCAAATGCAGGCAGGCGTGAAATAGCATGGTGAGCTAGGGGAAATGGAATTTGTTTTGCACAGCTGGAGCATAAAATTTGAGGGAGAAGTAGGACATGGAAAAAGATGAGACAGAGGGGGCAGGCAGGAGGCAGATTATGGAGGCCTCATAGGCCCTTCTAAGGTGATTGGATTTTATTTTAGGCCGTGGGGAACTATTTTAAATTATATTCTGGGTCCTAAAAGAATCAGATTTTCTTTTTTCAAATGATCATTCAGGCCACTTTGTGAAGGACAGCCCAGGAGGGCTCTTGGTTGGAAGCAGGTGATTGGTTAAGAGACTACTGGAATAGTCCAGACGAGAGATATTGAGGGCCTAGAGTGGGGCAGTAACAGAGAGTTAGAAACTAGGGCATGGATAGGAATTAAGATAGAATTCACAGGACCTGGTGACCCACATGGAATCTAAGTATTGAGTGGGTTATAAAAATAGGAGAGATTTGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCCTGGTGGTGGGCGCCTGTACTCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACACAGCGAGATTCCGTCTTAGAAAAAAAAAAAAAAAGGAGAAATTTAGATGTTGGGTATCAAGGGTGTCAAGGGTATAGGGTTGGAAAGGCAACGCTAAAGGACAGCAAATGTGGGGGTAAGATATTTGCAGCAGATGCTTCACAGAATTTGCTTATACACTATTTAAAGATGACTCCAATTATAACATTAAAGAAAAGAATTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCTCTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTTTACTAAAAATACAAAAAAAAAAATTAGCCGGGTTTGGTGGCACGTGCCTTGTAATCCTGGTTACCCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGGAGCCGAGATCGTGCCATTGCACTCCAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAATTGAGAGGAGTTAGGCAGAGGTAAAAGTAACCAAAGGTCAGTTTTAAATGCTTGCCTGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGACTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGTTGGCAGGCGCCTTTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGATGCAAAGGTTGCAGTGAGCCAAGAACGCACCATTGCACTCTAGCCTGGGCGACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAGACATCTGCATTTTCCTTGATGTGTGGGGTAGAGGTTGGCTAGAAGCAGCTGGAGTGTCCGTACCTATCTTTCTTCCTCTTTTCCCATACCCTCCCCTCCACAGAAGTGACACAGCCCTAGAGGAGGCAGTAGCAGAGGTGCTAGACCATCGACCCATCGAGCCGAAACACTGCCCTCCCTGCCATGTTTCAGTTGAGCTGGTGGGGTCCTGTGCTACCCTGGTGACCGAGAGAATCCTGCAGGGGGCACCAGAGATCTTGGACAGGCAAACTGCAGCCCTTCTGCATGGTAAGGGTGGCTTTTGGATTGGGACCTCAGTAGTTCTATTCCTGTCCCTGAGAAGGGAGGGTGGAAAAGTCTAGACGCTTCCAGCCTAACCATATGCTCTCAGAGCCATTCAGCTCATACCAAAAGATAGGATTCTTTCAGGGGACAATTGAGCATGTGTTTAAAGGCCTGTGGGATACTTGTTGGAGAAAGTAGAAAGGAAGTGCAGGGCAACAGACCAAGAAGCTTCCTATTGGCATCATTTTATGATGGAAGGAGGATTAGCTAAAGAAGCAGGAAACAGATTCCAATACCAATTCCTCCAGGAAATAGGTGACCTTGAGCAAATCTCTTAACCTTTCTTGTTCTCATTTTTCCACTTGTAAAAAAAAAGAGAGAGAGAGTGAGTTGGACTAGACTGTCTTTTCCAACTTAGAAGATTCTTTGATGGGATTTGGCCTACTGAAGAGGTGTATCTCTGTCTGACTAGGCTGTAAAATCTCCAAGGTTTGAGATGCTCAGGCTTTCTTTCTACCTTTTCCCCATTTCCCTTCCTACATTTTAGTTTGGATTTGGGAGGTCTGAGGACACTGTCCATCCCAGTTTCTCATTTTGCTTTCAGAGATTTTGCTATACAAATCTCCTTGTGTGTGTCCATTTGGTGTGAAGGTTATATATGTTCTGGTGGTTGTGTGTGAAGGGTCACAGGATTCAAGTTCCACCATCTCCCTTCTCCACAGGAACCATCATCCTGGACTGTGTCAACATGGACCTTAAAATTGGAAAGGCAACCCCAAAGGACAGCAAATATGTGGAGAAACTAGAGGCCCTTTTCCCAGACCTACCCAAGAGAAATGATATATTTGATTCCCTACAAAAGGCAAAGTTTGATGTATCAGGTATGAAATGTTAGCTGACTTTTCTGCCTCCCAGATAAGAAAACAGAAAGGCAAGCCTTGTTCATTATATTATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGCCACCCAGGCTAGAGTGCAGTGGCACAATCTTGGCACACTGCAACCTCGACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTGGTATTTTTAGTAAAGATCGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCTGAAGCTCAGGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAATTATTTAAATTTTATACCAGAAAGAAATGAAGTACCATATTAGCCTAAGCATGAAATAATCAGTCATTTACTGGATTGTTCTATCCTGGCTCTTGGTTAGGATGAGGAGGAATGTATTAAGAGCCTCAGAAGGGCCAGACGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTAGCTAACATGGTGAAACTCCGTTTCTACTAAAAATACGAAAAATTAGCTGAGCGTGGTGGTGTGTGCCTGTAATCCCATCTACTCAGGAGGCTGAGGCAGGAAAATCGCTTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGTACTCCAGCTTGGGCAACGACAGCGAAACTCCGTCTCAAAAAAAAACAAAAAGAGCCTCATAGGTTCCAGTCTATTCAGAGAATACAGGACATATATATAAAATATGCTGAGAGTATACTAAATTATCAGAGTGAAATCTATAGAATTGGTTAGGGAGGCAAAAGAAATATTTTGTGAGTAAACAAAAGATGAAGAGAACCCAAAAAAAACTGTATTCTTGTACTCAGCTACCACCTGTTGACATAAAAAGGAAGAAAGAAAGAAAGAACTCACATGTAAACAGTATAGGAAGAGGGAAAGATAAAAAGTAAAAGCCTCTGTTCTGGGTTTCATCCTTCTCTCCAAAGTTACTTGCTCTAAAGGTACCTATTGTCACCAGTTATTTAAGATGGCTTTTGATTATGTGATTACATTT
TTTTTTTTTTATGGAACAGTTCACAAATGTGCATGTCATCCTTGCTCAGCGGCCATGCTAATCTTCTCTGTGTCATTCCAATTTTAGCGCATGTGCTGCTGAAGTGAGCACTGATCTCAGTCTTGAAAGAGGACTAGGTGTTTGCTTGGTGAATTGGGAGGGAGGAGGGAAGGTGGTTAGGAAAGGCATTCCAGGCAGAGGGAGTAATTAATAGAATCAAATGCAGGCAGGCGTGAAATAGCATGGTGAGCTAGGGGAAATGGAATTTGTTTTGCACAGCTGGAGCATAAAATTTGAGGGAGAAGTAGGACATGGAAAAAGATGAGACAGAGGGGGCAGGCAGGAGGCAGATTATGGAGGCCTCATAGGCCCTTCTAAGGTGATTGGATTTTATTTTAGGCCGTGGGGAACTATTTTAAATTATATTCTGGGTCCTAAAAGAATCAGATTTTCTTTTTTCAAATGATCATTCAGGCCACTTTGTGAAGGACAGCCCAGGAGGGCTCTTGGTTGGAAGCAGGTGATTGGTTAAGAGACTACTGGAATAGTCCAGACGAGAGATATTGAGGGCCTAGAGTGGGGCAGTAACAGAGAGTTAGAAACTAGGGCATGGATAGGAATTAAGATAGAATTCACAGGACCTGGTGACCCACATGGAATCTAAGTATTGAGTGGGTTATAAAAATAGGAGAGATTTGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCCTGGTGGTGGGCGCCTGTACTCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACACAGCGAGATTCCGTCTTAGAAAAAAAAAAAAAAAGGAGAAATTTAGATGTTGGGTATCAAGGGTGTCAAGGGTATAGGGTTGGAAAGGCAACGCTAAAGGACAGCAAATGTGGGGGTAAGATATTTGCAGCAGATGCTTCACAGAATTTGCTTATACACTATTTAAAGATGACTCCAATTATAACATTAAAGAAAAGAATTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCTCTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTTTACTAAAAATACAAAAAAAAAAATTAGCCGGGTTTGGTGGCACGTGCCTTGTAATCCTGGTTACCCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGGAGCCGAGATCGTGCCATTGCACTCCAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAATTGAGAGGAGTTAGGCAGAGGTAAAAGTAACCAAAGGTCAGTTTTAAATGCTTGCCTGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGACTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGTTGGCAGGCGCCTTTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGATGCAAAGGTTGCAGTGAGCCAAGAACGCACCATTGCACTCTAGCCTGGGCGACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAGACATCTGCATTTTCCTTGATGTGTGGGGTAGAGGTTGGCTAGAAGCAGCTGGAGTGTCCGTACCTATCTTTCTTCCTCTTTTCCCATACCCTCCCCTCCACAGAAGTGACACAGCCCTAGAGGAGGCAGTAGCAGAGGTGCTAGACCATCGACCCATCGAGCCGAAACACTGCCCTCCCTGCCATGTTTCAGTTGAGCTGGTGGGGTCCTGTGCTACCCTGGTGACCGAGAGAATCCTGCAGGGGGCACCAGAGATCTTGGACAGGCAAACTGCAGCCCTTCCGCATGGTAAGGGTGGCTTTTGGATTGGGACCTCAGTAGTTCTATTCCTGTCCCTGAGAAGGGAGGGTGGAAAAGTCTAGACGCTTCCAGCCTAACCATATGCTCTCAGAGCCATTCAGCTCATACCAAAAGATAGGATTCTTTCAGGGGACAATTGAGCATGTGTTTAAAGGCCTGTGGGATACTTGTTGGAGAAAGTAGAAAGGAAGTGCAGGGCAACAGACCAAGAAGCTTCCTATTGGCATCATTTTATGATGGAAGGAGGATTAGCTAAAGAAGCAGGAAACAGATTCCAATACCAATTCCTCCAGGAAATAGGTGACCTTGAGCAAATCTCTTAACCTTTCTTGTTCTCATTTTTCCACTTGTAAAAAAAAAGAGAGAGAGAGTGAGTTGGACTAGACTGTCTTTTCCAACTTAGAAGATTCTTTGATGGGATTTGGCCTACTGAAGAGGTGTATCTCTGTCTGACTAGGCTGTAAAATCTCCAAGGTTTGAGATGCTCAGGCTTTCTTTCTACCTTTTCCCCATTTCCCTTCCTACATTTTAGTTTGGATTTGGGAGGTCTGAGGACACTGTCCATCCCAGTTTCTCATTTTGCTTTCAGAGATTTTGCTATACAAATCTCCTTGTGTGTGTCCATTTGGTGTGAAGGTTATATATGTTCTGGTGGTTGTGTGTGAAGGGTCACAGGATTCAAGTTCCACCATCTCCCTTCTCCACAGGAACCATCATCCTGGACTGTGTCAACATGGACCTTAAAATTGGAAAGGCAACCCCAAAGGACAGCAAATATGTGGAGAAACTAGAGGCCCTTTTCCCAGACCTACCCAAGAGAAATGATATATTTGATTCCCTACAAAAGGCAAAGTTTGATGTATCAGGTATGAAATGTTAGCTGACTTTTCTGCCTCCCAGATAAGAAAACAGAAAGGCAAGCCTTGTTCATTATATTATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGCCACCCAGGCTAGAGTGCAGTGGCACAATCTTGGCACACTGCAACCTCGACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTGGTATTTTTAGTAAAGATCGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCTGAAGCTCAGGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAATTATTTAAATTTTATACCAGAAAGAAATGAAGTACCATATTAGCCTAAGCATGAAATAATCAGTCATTTACTGGATTGTTCTATCCTGGCTCTTGGTTAGGATGAGGAGGAATGTATTAAGAGCCTCAGAAGGGCCAGACGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTAGCTAACATGGTGAAACTCCGTTTCTACTAAAAATACGAAAAATTAGCTGAGCGTGGTGGTGTGTGCCTGTAATCCCATCTACTCAGGAGGCTGAGGCAGGAAAATCGCTTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGTACTCCAGCTTGGGCAACGACAGCGAAACTCCGTCTCAAAAAAAAACAAAAAGAGCCTCATAGGTTCCAGTCTATTCAGAGAATACAGGACATATATATAAAATATGCTGAGAGTATACTAAATTATCAGAGTGAAATCTATAGAATTGGTTAGGGAGGCAAAAGAAATATTTTGTGAGTAAACAAAAGATGAAGAGAACCCAAAAAAAACTGTATTCTTGTACTCAGCTACCACCTGTTGACATAAAAAGGAAGAAAGAAAGAAAGAACTCACATGTAAACAGTATAGGAAGAGGGAAAGATAAAAAGTAAAAGCCTCTGTTCTGGGTTTCATCCTTCTCTCCAAAGTTACTTGCTCTAAAGGTACCTATTGTCACCAGTTATTTAAGATGGCTTTTGATTATGTGATTACATTT
Task1_train_1546
Consider this mutation in SCNM1, TNFAIP8L2-SCNM1 (sodium channel modifier 1| TNFAIP8L2-SCNM1 readthrough) on Chromosome 1. Is this a benign change or a disease-causing variant?
Pathogenic; Orofaciodigital syndrome 19
GCAGGACTTGTGCAACACTGTGATGGGAAAACAAAGATAAAGGCAGAACAGAGTGCAACACATTAGGAACATTTCAGGGGAGGTTACCTAGAAGGGCCACTACATTCTTCTCAGGACTAAATCCCTCCTGACTGTTGTCTTCACCCCAATCCTGGAAAACTCACCGTCACCCCATATTTGAGTGCTAGTCCAGCCAGGGTGTCTCCGGGCTCCAACTGATGCTCCAGGCGTCTTTCCCTCACTGGGGAGCAGGCCGATTGCACCAGGCTTCCATATGAACGAGCCCGGCTCCCTTGAAGCAGTCCTGACCCCCCTGGCGGGGGCTGTCTAGACGGGGAAGCCATCTCTTCACCCTGCCAACAGCTAAGGTTGCAACTAGGGGAGGTACGACCGAGACTGCGACTGACAGGCCTGAAGTCTGGGAATGAATATTCAGGGGATTCCTTTCCCCCTCTCTCTTCCCCTGTGTCCCCGCCTCCCCAGCACTACGCCATCTGCCCCCTCCCGGTTTCTCCTCCCTCCAAGCTACTTATCCACAAATCTGTCCCTTGAGTATTCAGTCCCTCCCTAATTCTCCCCTAAGCACCCCTCCGACTTTGGACTCCCCCACAACTCCTCGCTACATTGACCTCTGACCTTTGAACTCTAGAAATAATCCTCAACACTCTTTCCTCAGTTTGCCCCCAAGTAGCCTGGCCTCAGGGCGCTCCAACATCCCAGCTCTCCCCGGTCCCGGGGTTTGTTTGCTAGAGTCAGGAACAAATCAGGCCCACCCCAGGTGAACTGTCGCCGCAGACGAAGAGCGTGAGGATTGCAAGAATTTGTAGTACACCTTCCACTCAGAGATCCTCAAAGGTCCGCTCCGCATAAGATAGGTCACACCCTCAAATTTCGGCTCCACATCTAGGTTGTTGTCCCTCCAAACGCCTCAGATCCGCCAAGATGCAAGGGCCTGGATCCAGTTGAGCGGCAAGGTCTTTGAGAAAAGACTTCATTTCCCAAAAGGCTCCGCGTCTGCGGAGTCGCAGGGCACCATAGGAAATGCAGTTCCCTCCGAGCACCAGAGAGTGGATTTCCGGATCGCGCAATGCATGCGTGGAAGTGCGTCCCCGGAAGTACGGAGGCCGACAGGAAGAGAAGGAAAAAAGAGAAGGCGCTGTCCCGCTCTTGCTACGGTGGCCTGGAGGAGTGGCGAAACCGGAACAGAGAATTTATCACTTCTGGGACTCACAGTCGTGATGTCTTTCAAGAGGGAAGGAGACGATTGGAGTCAACTCAATGTGCTCAAAGTAAGCGTGAGCGGAGAGGATCTGGAGCCGCTTCAGTCGCTCCCTGAAGGTTGGGAAGGAGCTTTGTTTCATTGCTCTGGCAACAACTCGGGGGTGCAGGAGAGAACCAGGCGACTTAGAGCTGTGTAGTGACTCCTTTTTCGGTCTATGATCGCTGTTCTCCCCAGGGTCCTTATTCCATTTCACTCCTCATTTCTATAATTTCACTTCCACCCCTCTCTCCTATCCCGCTGATCCCGTCCGGATTTCTTCCCCTACTCCCTGCAGAAAAGAAGAGTCGGGGACCTCCTAGCCAGTTACATTCCAGAGGATGAGGCGCTGATGCTTCGGGATGGACGGTAAGAGCAAGGAGTGGCTCAAGCCTGAGGGTTCTGCGGTTAGAGGCTCAATAGACTTTTTTTTTTTTTTCCTTTGAGACGGAGGTCTCGCGGTGCTGCCCAGGCTGCCCTCGAACTCTAGGGCTCAAGTGATCCTGCCTCCTCAGCGTCGCGATTAGCTGGGTTTACAAGCGCATGCCACCACGCCTGGCTTCAACAAACTTTTGTTATTAATTAGGACAGCAGGAGTACCTAGGATTCTTTGGCGGCCAGTGAGGACTGGAAGAAGTGGAGATTGGGTCACCAGGGAGTTGGGTTTTGCAAAGACTGCTAGGACAGGGTGGGACCTATGGCAGGGACGGGCCCAACCCTCTTCCCCTGGACCACTTATCCTCTTCTCTACCCCTGCTCAGCTTTGCTTGTGCCATCTGCCCCCATCGACCGGTACTGGACACCCTGGCCATGCTGACTGCCCACCGTGCAGGCAAGAAACATCTGTCCAGTAAGTTAGGGGGAAGACGGGATGGGGAATAAACCCTCGAAATCTCTGCACACCACTCTTGGTGCTATGCTTTTAATTCTGTTTCCCTTTCTCCTCAGGCTTGCAGCTTTTCTATGGCAAGAAGCAGCCGGGAAAGGAAAGAAAGCAGAATCCAAAACATCAGAATGAATTGAGAAGGGAAGAAACCAAAGCTGAGGTAATCAGAGAGTGGAGAGTGTGTTCTAGGCAAGACCCTGCTGCACACACCAGGCTGGAAGGGCGGAGGGCTGAAGGCTCTGACTCTGTCTCCCATCTCCTTACCAGGCTCCTCTGCTAACTCAGACACGACTTATCACCCAGAGTGCTCTGCACAGAGCTCCCCACTATAACAGTTGCTGCCGCCGGAAGTACAGGTATGGGACGGGAAAGCCAGAGGTAGGAAGGCTCAGAAGGAGACAGATGGCTCTAAAAGAGTTTTCCAGTGTGTATTCTGAGGAATACTAGTGTTCTGGAGATGTTACTTAGTGTTTCAAGAAAAGGAGAATTTTGGCTGGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTTGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACCAAAAATGTAAAAAATTAGCTGGGTGTGTGGTGTGTGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGGAGACAGAGGTTGCAGTGAGCCACGGTCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAGAAAAGAAAGAAAAAGAAAAGGAGAATTTTGTGATTTTTAAATAAAGTTTGGGAAATGGCACTTTGTAATTCTACTTGAAGAATAACAGTTTTAAAAACTATACAAAGTCTTAAGATTAAAAAAAACTTGTAAAATTTTAAGCTAGCCTTTCCCAAATTCATGATTCTGAAATCCTTTGTATGCAGAACTTATTAATATCTTGAGAAATATAGTTTAAGAAGCACTGTTTTAAGAGGTTGGGAGTCATAGGAGAGTTGGCCCTTTCCCTTACTGCTTTTACAGACTATTCTTCTCTACCTAGACCAGAAGCCCCTGGTCCCTCTGTCTCCCTTTCCCCTATGCCACCCTCAGAGGTCAAACTCCAAAGTGGGAAGATCAGTAGGGAACCTGAACCTGCGGCTGGCCCACAGGCCGAGGAGTCAGCAACTGTCTCAGCCCCTGCACCCATGAGCCCCACAAGAAGACGAGCCCTGGACCATTATCTCACCCTTCGAAGGTGAGTATGCCTAATCAGTTTCCTCAGATTTTCTTTTCTCTCTGACACCCTTGTTTCAAAGCTATTGTTTTTCCTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCCAGCTGGAGTGCAATGGCACGCTCTCGGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGTGCCATCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGCCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGTTTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCGCACCCGGACTCCCATTGTTGTTTTCCATCTTTGGTTTCGTTTTGTTTTAGCCACCCAACTTACATGGCTCTCAATTTTTTCTCACTGCTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTAGAGACAGGGTTTCACTATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAGAGTGCTGGGATTACTGGTGTGAGCTCACCACTAACTTCTTAATAAGCCTCTTTCCTGATCGATGCTATTTTCTCTGATGTTTCCAGCTCTGGATGGATCCCAGATGGACGA
GCAGGACTTGTGCAACACTGTGATGGGAAAACAAAGATAAAGGCAGAACAGAGTGCAACACATTAGGAACATTTCAGGGGAGGTTACCTAGAAGGGCCACTACATTCTTCTCAGGACTAAATCCCTCCTGACTGTTGTCTTCACCCCAATCCTGGAAAACTCACCGTCACCCCATATTTGAGTGCTAGTCCAGCCAGGGTGTCTCCGGGCTCCAACTGATGCTCCAGGCGTCTTTCCCTCACTGGGGAGCAGGCCGATTGCACCAGGCTTCCATATGAACGAGCCCGGCTCCCTTGAAGCAGTCCTGACCCCCCTGGCGGGGGCTGTCTAGACGGGGAAGCCATCTCTTCACCCTGCCAACAGCTAAGGTTGCAACTAGGGGAGGTACGACCGAGACTGCGACTGACAGGCCTGAAGTCTGGGAATGAATATTCAGGGGATTCCTTTCCCCCTCTCTCTTCCCCTGTGTCCCCGCCTCCCCAGCACTACGCCATCTGCCCCCTCCCGGTTTCTCCTCCCTCCAAGCTACTTATCCACAAATCTGTCCCTTGAGTATTCAGTCCCTCCCTAATTCTCCCCTAAGCACCCCTCCGACTTTGGACTCCCCCACAACTCCTCGCTACATTGACCTCTGACCTTTGAACTCTAGAAATAATCCTCAACACTCTTTCCTCAGTTTGCCCCCAAGTAGCCTGGCCTCAGGGCGCTCCAACATCCCAGCTCTCCCCGGTCCCGGGGTTTGTTTGCTAGAGTCAGGAACAAATCAGGCCCACCCCAGGTGAACTGTCGCCGCAGACGAAGAGCGTGAGGATTGCAAGAATTTGTAGTACACCTTCCACTCAGAGATCCTCAAAGGTCCGCTCCGCATAAGATAGGTCACACCCTCAAATTTCGGCTCCACATCTAGGTTGTTGTCCCTCCAAACGCCTCAGATCCGCCAAGATGCAAGGGCCTGGATCCAGTTGAGCGGCAAGGTCTTTGAGAAAAGACTTCATTTCCCAAAAGGCTCCGCGTCTGCGGAGTCGCAGGGCACCATAGGAAATGCAGTTCCCTCCGAGCACCAGAGAGTGGATTTCCGGATCGCGCAATGCATGCGTGGAAGTGCGTCCCCGGAAGTACGGAGGCCGACAGGAAGAGAAGGAAAAAAGAGAAGGCGCTGTCCCGCTCTTGCTACGGTGGCCTGGAGGAGTGGCGAAACCGGAACAGAGAATTTATCACTTCTGGGACTCACAGTCGTGATGTCTTTCAAGAGGGAAGGAGACGATTGGAGTCAACTCAATGTGCTCAAAGTAAGCGTGAGCGGAGAGGATCTGGAGCCGCTTCAGTCGCTCCCTGAAGGTTGGGAAGGAGCTTTGTTTCATTGCTCTGGCAACAACTCGGGGGTGCAGGAGAGAACCAGGCGACTTAGAGCTGTGTAGTGACTCCTTTTTCGGTCTATGATCGCTGTTCTCCCCAGGGTCCTTATTCCATTTCACTCCTCATTTCTATAATTTCACTTCCACCCCTCTCTCCTATCCCGCTGATCCCGTCCGGATTTCTTCCCCTACTCCCTGCAGAAAAGAAGAGTCGGGGACCTCCTAGCCAGTTACATTCCAGAGGATGAGGCGCTGATGCTTCGGGATGGACGGTAAGAGCAAGGAGTGGCTCAAGCCTGAGGGTTCTGCGGTTAGAGGCTCAATAGACTTTTTTTTTTTTTTCCTTTGAGACGGAGGTCTCGCGGTGCTGCCCAGGCTGCCCTCGAACTCTAGGGCTCAAGTGATCCTGCCTCCTCAGCGTCGCGATTAGCTGGGTTTACAAGCGCATGCCACCACGCCTGGCTTCAACAAACTTTTGTTATTAATTAGGACAGCAGGAGTACCTAGGATTCTTTGGCGGCCAGTGAGGACTGGAAGAAGTGGAGATTGGGTCACCAGGGAGTTGGGTTTTGCAAAGACTGCTAGGACAGGGTGGGACCTATGGCAGGGACGGGCCCAACCCTCTTCCCCTGGACCACTTATCCTCTTCTCTACCCCTGCTCAGCTTTGCTTGTGCCATCTGCCCCCATCGACAGGTACTGGACACCCTGGCCATGCTGACTGCCCACCGTGCAGGCAAGAAACATCTGTCCAGTAAGTTAGGGGGAAGACGGGATGGGGAATAAACCCTCGAAATCTCTGCACACCACTCTTGGTGCTATGCTTTTAATTCTGTTTCCCTTTCTCCTCAGGCTTGCAGCTTTTCTATGGCAAGAAGCAGCCGGGAAAGGAAAGAAAGCAGAATCCAAAACATCAGAATGAATTGAGAAGGGAAGAAACCAAAGCTGAGGTAATCAGAGAGTGGAGAGTGTGTTCTAGGCAAGACCCTGCTGCACACACCAGGCTGGAAGGGCGGAGGGCTGAAGGCTCTGACTCTGTCTCCCATCTCCTTACCAGGCTCCTCTGCTAACTCAGACACGACTTATCACCCAGAGTGCTCTGCACAGAGCTCCCCACTATAACAGTTGCTGCCGCCGGAAGTACAGGTATGGGACGGGAAAGCCAGAGGTAGGAAGGCTCAGAAGGAGACAGATGGCTCTAAAAGAGTTTTCCAGTGTGTATTCTGAGGAATACTAGTGTTCTGGAGATGTTACTTAGTGTTTCAAGAAAAGGAGAATTTTGGCTGGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTTGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACCAAAAATGTAAAAAATTAGCTGGGTGTGTGGTGTGTGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGGAGACAGAGGTTGCAGTGAGCCACGGTCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAGAAAAGAAAGAAAAAGAAAAGGAGAATTTTGTGATTTTTAAATAAAGTTTGGGAAATGGCACTTTGTAATTCTACTTGAAGAATAACAGTTTTAAAAACTATACAAAGTCTTAAGATTAAAAAAAACTTGTAAAATTTTAAGCTAGCCTTTCCCAAATTCATGATTCTGAAATCCTTTGTATGCAGAACTTATTAATATCTTGAGAAATATAGTTTAAGAAGCACTGTTTTAAGAGGTTGGGAGTCATAGGAGAGTTGGCCCTTTCCCTTACTGCTTTTACAGACTATTCTTCTCTACCTAGACCAGAAGCCCCTGGTCCCTCTGTCTCCCTTTCCCCTATGCCACCCTCAGAGGTCAAACTCCAAAGTGGGAAGATCAGTAGGGAACCTGAACCTGCGGCTGGCCCACAGGCCGAGGAGTCAGCAACTGTCTCAGCCCCTGCACCCATGAGCCCCACAAGAAGACGAGCCCTGGACCATTATCTCACCCTTCGAAGGTGAGTATGCCTAATCAGTTTCCTCAGATTTTCTTTTCTCTCTGACACCCTTGTTTCAAAGCTATTGTTTTTCCTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCCAGCTGGAGTGCAATGGCACGCTCTCGGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGTGCCATCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGCCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGTTTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCGCACCCGGACTCCCATTGTTGTTTTCCATCTTTGGTTTCGTTTTGTTTTAGCCACCCAACTTACATGGCTCTCAATTTTTTCTCACTGCTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTAGAGACAGGGTTTCACTATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAGAGTGCTGGGATTACTGGTGTGAGCTCACCACTAACTTCTTAATAAGCCTCTTTCCTGATCGATGCTATTTTCTCTGATGTTTCCAGCTCTGGATGGATCCCAGATGGACGA
Task1_train_1547
With a mutation on Chromosome 1 in gene ZNF687 (zinc finger protein 687), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Paget disease of bone 6
GCCTGGGGAGTTTCACCATGTTGCCCAGGGTGGTCTTGAACTCCTGGGCCCAAGTGATTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCCGGCCATTTGTGTCCTCTTTCAAACAGCAAAAGTAAGGCACTGAAGAAACTTGCTTGTACTGCACGCCCCTGATAAAGCTGAACGAGGATCATTTCTTAAGTCTTGGCTTATGGCATTGTCCCTTTGTACATGCAGCCTTTCAGATCTGTGTGGACCCCAGAAGATCCGTGAAGAATATGAATTGATTCCATGCGGACATGAATGAGTCCTTAAACCTAGAACATCATGTACATCATCCTCCTTAATAATAGTATTGATTATTTGGTTCTATGCTGGGGACCGGAGGGGATGAGATGGTTTCCACCAGAATGCTCACTGAGCTCTATTACCCTTCCCTGTTCCCTGTATTTTTTTTTTTTTTCTGAGACAGTCTTGCTCTGTCGCCCAGGTGGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCTGCCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATCTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCTGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCCCTATATTTCTTTTTTTTGAGACAGGGTCTCGCTCTGTCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGAAACCTCAACCTCATGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTTTGTAGCTGCGATTACAGGCATGTGCCACCACACCTGTCTAGTTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAAGTGATCCATCTGCCTCAGCCTCCCAAAACGCTGGGATTACAAGCATGAGCCACCGCACCTGGCCCCTTCCCTGTATTTCTAAGAACTCTCTTTTCCCCTGCTTTCTCTGGATTTTGGAGCCCACCAAGGTATGGACACTAATCCTCTTCTGATTTTAAGGTTTGGCAAACCTAGCAGCTCTGTAGGATTCATGCCGTGGCGGAGGTGTACCTAAGTTGGAGTGTATGTGGGTTCTGAGAGAGGATAAATATGGAGATGCTGAGGGAAGAGCTCCAGGATCTCTCTTCTAGACATCTCAGTTTCTCCTCCTCGTTCCTGTTTTCATCAGGTCTGGGATCTGCCGATATGGGGGATATGAAGACCCCTGATTTTGATGACCTCCTTGCTGCCTTTGACATCCCTGACATTGATGCGAATGAAGCCATCCATTCTGGGCCAGAAGAAAATGAGGGGCCTGGAGGCCCAGGGAAGCCAGAACCAGGTGTAGGAAGTGAATCTGAAGACACAGCAGCAGCCTCTGCTGGGGATGGCCCTGGAGTTCCAGCCCAGGCCTCTGACCATGGCCTGCCACCGCCAGACATTTCTGTAGTCAGTGTCATTGTCAAGAACACTGTGTGTCCCGAGCAGTCTGAGGCCCTGGCTGGAGGCTCAGCAGGAGACGGGGCCCAGGCTGCTGGGGTAACTAAAGAAGGGCCTGTGGGGCCTCATCGAATGCAGAATGGTTTTGGGAGCCCTGAACCTTCCCTCCCAGGAACTCCCCACTCTCCTGCTCCTCCCAGTGGGGGCACCTGGAAAGAAAAAGGCATGGAAGGCAAAACTCCCTTGGACCTGTTTGCTCATTTTGGCCCTGAGCCAGGGGACCACTCAGATCCGCTGCCTCCCTCTGCACCCTCTCCCACTCGGGAGGGGGCTCTGACCCCGCCTCCTTTCCCCTCTTCCTTTGAGCTGGCCCAGGAGAATGGCCCAGGCATGCAGCCACCTGTTTCTTCCCCACCATTGGGGGCCTTGAAGCAGGAGAGCTGCAGCCCCCATCATCCCCAGGTCCTAGCCCAACAAGGCTCAGGCTCCAGCCCTAAGGCCACGGACATCCCTGCCAGTGCCTCGCCTCCCCCAGTTGCTGGGGTGCCCTTCTTCAAGCAGTCTCCAGGGCACCAGAGCCCTCTTGCCTCCCCCAAAGTGCCCGTCTGTCAGCCCTTGAAGGAAGAAGATGATGATGAGGGGCCAGTGGACAAGTCTTCCCCAGGAAGTCCCCAGAGTCCCTCTAGTGGGGCCGAGGCTGCAGATGAGGACAGCAATGACTCCCCTGCCTCCAGCTCCTCTAGGCCTCTTAAGGTGCGGATCAAGACCATTAAAACATCCTGCGGGAATATCACAAGGACTGTAACTCAGGTCCCCTCAGATCCTGATCCACCTGCCCCCTTGGCTGAGGGGGCCTTCTTGGCTGAGGCTAGCCTCTTGAAGCTGTCCCCTGCAACACCTACTTCTGAGGGTCCAAAGGTGGTGAGCGTACAGTTGGGTGATGGTACAAGGCTGAAAGGCACTGTGCTGCCTGTGGCCACCATCCAGAACGCCAGTACTGCCATGCTGATGGCAGCCAGTGTGGCTCGCAAGGCTGTGGTGCTGCCTGGGGGGACTGCCACCAGCCCTAAGATGATTGCTAAGAACGTGCTAGGCCTGGTGCCCCAAGCCCTGCCTAAGGCTGACGGGCGGGCAGGGCTGGGGACTGGGGGACAGAAGGTGAATGGTGCCTCGGTGGTGATGGTGCAACCTTCAAAGACAGCTACTGGGCCAAGTACAGGGGGCGGCACAGTGATATCACGGACCCAGTCCAGCCTGGTGGAGGCCTTCAACAAGATCCTCAACAGCAAGAACCTGCTCCCTGCCTATAGGCCAAACCTGAGCCCACCAGCTGAGGCTGGGCTGGCCCTGCCTCCCACCGGCTACCGCTGCCTGGAGTGTGGGGATGCCTTCTCATTGGAGAAGAGCCTGGCACGGCACTATGACCGTCGGAGCATGCGCATCGAGGTCACCTGCAACCACTGCGCCCGCCGCCTGGTCTTCTTCAACAAGTGCAGCCTGCTCCTGCATGCACGTGAACACAAGGACAAGGGGCTCGTCATGCAGTGCTCACATTTGGTCATGAGGCCTGTAGCCCTTGACCAGATGGTGGGGCAGCCGGACATCACACCGCTGCTGCCTGTAGCTGTCCCACCTGTCTCTGGACCTCTGGCCTTGCCTGCCTTGGGCAAGGGTGAGGGGGCCATCACCTCCTCTGCCATTACTACAGTTGCTGCTGAGGCCCCTGTCCTGCCGCTCTCCACAGAGCCGCCTGCTGCCCCGGCCACCTCTGCTTACACATGCTTTCGCTGCCTGGAGTGCAAGGAACAGTGCCGGGACAAGGCTGGCATGGCAGCTCACTTCCAGCAGCTCGGCCCCCCTGCCCCTGGGGCCACCAGCAATGTGAGTCACCTTTCACAGCCCTTCTGTGGGGACAGGATCTAGGAAGGCGTTGGGGGCTTGGTTAGAAGTAATGGAGACAGGACACTCCTCACCGACTTTCCTTGTTTAACCCACTCGACAGGTGTGCCCAACCTGCCCCATGATGCTCCCCAATCGCTGCAGCTTCAGCGCCCACCAGCGCATGCATAAGAATCGACCCCCCCATGTCTGTCCTGAGTGTGGGGGCAACTTCCTGCAAGCCAATTTTCAGACCCATCTCCGGGAGGCCTGTCTGCACGTCTCTCGCCGTGTAGGATACAGGTGCCTCGGACCCTTCCTCCATAGAACTGTAGGGTTTCGTGTGTCCTAGCCTCAGCCTCAGATGGCCTTTCAAGATCCCCTATCTTCCCTGCTATATCCCTCAGCCCTGTTGTTTTGCCAGACTCAACCCTGAGATAGTACGTCCTGCCTTCCCGTCGTCCCCCATGGAGATGGGGGGAAGCAGGGCCACCTCTGGAGCTCCAGCTCTCCCTTGGCAGCCTCCCTTGGGGCACAGCCTCTGCACCTCTCTCCTTTCTCCACCCTGCTCATGCTCCACTACTGATTTCCTTCTTGTAGTCTACCCAGTCCCAGAGAATAAATGTATGGTCCCGGGGTGGGCATGGAGATGCCTCCCAC
GCCTGGGGAGTTTCACCATGTTGCCCAGGGTGGTCTTGAACTCCTGGGCCCAAGTGATTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCCGGCCATTTGTGTCCTCTTTCAAACAGCAAAAGTAAGGCACTGAAGAAACTTGCTTGTACTGCACGCCCCTGATAAAGCTGAACGAGGATCATTTCTTAAGTCTTGGCTTATGGCATTGTCCCTTTGTACATGCAGCCTTTCAGATCTGTGTGGACCCCAGAAGATCCGTGAAGAATATGAATTGATTCCATGCGGACATGAATGAGTCCTTAAACCTAGAACATCATGTACATCATCCTCCTTAATAATAGTATTGATTATTTGGTTCTATGCTGGGGACCGGAGGGGATGAGATGGTTTCCACCAGAATGCTCACTGAGCTCTATTACCCTTCCCTGTTCCCTGTATTTTTTTTTTTTTTCTGAGACAGTCTTGCTCTGTCGCCCAGGTGGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCTGCCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATCTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCTGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCCCTATATTTCTTTTTTTTGAGACAGGGTCTCGCTCTGTCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGAAACCTCAACCTCATGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTTTGTAGCTGCGATTACAGGCATGTGCCACCACACCTGTCTAGTTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAAGTGATCCATCTGCCTCAGCCTCCCAAAACGCTGGGATTACAAGCATGAGCCACCGCACCTGGCCCCTTCCCTGTATTTCTAAGAACTCTCTTTTCCCCTGCTTTCTCTGGATTTTGGAGCCCACCAAGGTATGGACACTAATCCTCTTCTGATTTTAAGGTTTGGCAAACCTAGCAGCTCTGTAGGATTCATGCCGTGGCGGAGGTGTACCTAAGTTGGAGTGTATGTGGGTTCTGAGAGAGGATAAATATGGAGATGCTGAGGGAAGAGCTCCAGGATCTCTCTTCTAGACATCTCAGTTTCTCCTCCTCGTTCCTGTTTTCATCAGGTCTGGGATCTGCCGATATGGGGGATATGAAGACCCCTGATTTTGATGACCTCCTTGCTGCCTTTGACATCCCTGACATTGATGCGAATGAAGCCATCCATTCTGGGCCAGAAGAAAATGAGGGGCCTGGAGGCCCAGGGAAGCCAGAACCAGGTGTAGGAAGTGAATCTGAAGACACAGCAGCAGCCTCTGCTGGGGATGGCCCTGGAGTTCCAGCCCAGGCCTCTGACCATGGCCTGCCACCGCCAGACATTTCTGTAGTCAGTGTCATTGTCAAGAACACTGTGTGTCCCGAGCAGTCTGAGGCCCTGGCTGGAGGCTCAGCAGGAGACGGGGCCCAGGCTGCTGGGGTAACTAAAGAAGGGCCTGTGGGGCCTCATCGAATGCAGAATGGTTTTGGGAGCCCTGAACCTTCCCTCCCAGGAACTCCCCACTCTCCTGCTCCTCCCAGTGGGGGCACCTGGAAAGAAAAAGGCATGGAAGGCAAAACTCCCTTGGACCTGTTTGCTCATTTTGGCCCTGAGCCAGGGGACCACTCAGATCCGCTGCCTCCCTCTGCACCCTCTCCCACTCGGGAGGGGGCTCTGACCCCGCCTCCTTTCCCCTCTTCCTTTGAGCTGGCCCAGGAGAATGGCCCAGGCATGCAGCCACCTGTTTCTTCCCCACCATTGGGGGCCTTGAAGCAGGAGAGCTGCAGCCCCCATCATCCCCAGGTCCTAGCCCAACAAGGCTCAGGCTCCATCCCTAAGGCCACGGACATCCCTGCCAGTGCCTCGCCTCCCCCAGTTGCTGGGGTGCCCTTCTTCAAGCAGTCTCCAGGGCACCAGAGCCCTCTTGCCTCCCCCAAAGTGCCCGTCTGTCAGCCCTTGAAGGAAGAAGATGATGATGAGGGGCCAGTGGACAAGTCTTCCCCAGGAAGTCCCCAGAGTCCCTCTAGTGGGGCCGAGGCTGCAGATGAGGACAGCAATGACTCCCCTGCCTCCAGCTCCTCTAGGCCTCTTAAGGTGCGGATCAAGACCATTAAAACATCCTGCGGGAATATCACAAGGACTGTAACTCAGGTCCCCTCAGATCCTGATCCACCTGCCCCCTTGGCTGAGGGGGCCTTCTTGGCTGAGGCTAGCCTCTTGAAGCTGTCCCCTGCAACACCTACTTCTGAGGGTCCAAAGGTGGTGAGCGTACAGTTGGGTGATGGTACAAGGCTGAAAGGCACTGTGCTGCCTGTGGCCACCATCCAGAACGCCAGTACTGCCATGCTGATGGCAGCCAGTGTGGCTCGCAAGGCTGTGGTGCTGCCTGGGGGGACTGCCACCAGCCCTAAGATGATTGCTAAGAACGTGCTAGGCCTGGTGCCCCAAGCCCTGCCTAAGGCTGACGGGCGGGCAGGGCTGGGGACTGGGGGACAGAAGGTGAATGGTGCCTCGGTGGTGATGGTGCAACCTTCAAAGACAGCTACTGGGCCAAGTACAGGGGGCGGCACAGTGATATCACGGACCCAGTCCAGCCTGGTGGAGGCCTTCAACAAGATCCTCAACAGCAAGAACCTGCTCCCTGCCTATAGGCCAAACCTGAGCCCACCAGCTGAGGCTGGGCTGGCCCTGCCTCCCACCGGCTACCGCTGCCTGGAGTGTGGGGATGCCTTCTCATTGGAGAAGAGCCTGGCACGGCACTATGACCGTCGGAGCATGCGCATCGAGGTCACCTGCAACCACTGCGCCCGCCGCCTGGTCTTCTTCAACAAGTGCAGCCTGCTCCTGCATGCACGTGAACACAAGGACAAGGGGCTCGTCATGCAGTGCTCACATTTGGTCATGAGGCCTGTAGCCCTTGACCAGATGGTGGGGCAGCCGGACATCACACCGCTGCTGCCTGTAGCTGTCCCACCTGTCTCTGGACCTCTGGCCTTGCCTGCCTTGGGCAAGGGTGAGGGGGCCATCACCTCCTCTGCCATTACTACAGTTGCTGCTGAGGCCCCTGTCCTGCCGCTCTCCACAGAGCCGCCTGCTGCCCCGGCCACCTCTGCTTACACATGCTTTCGCTGCCTGGAGTGCAAGGAACAGTGCCGGGACAAGGCTGGCATGGCAGCTCACTTCCAGCAGCTCGGCCCCCCTGCCCCTGGGGCCACCAGCAATGTGAGTCACCTTTCACAGCCCTTCTGTGGGGACAGGATCTAGGAAGGCGTTGGGGGCTTGGTTAGAAGTAATGGAGACAGGACACTCCTCACCGACTTTCCTTGTTTAACCCACTCGACAGGTGTGCCCAACCTGCCCCATGATGCTCCCCAATCGCTGCAGCTTCAGCGCCCACCAGCGCATGCATAAGAATCGACCCCCCCATGTCTGTCCTGAGTGTGGGGGCAACTTCCTGCAAGCCAATTTTCAGACCCATCTCCGGGAGGCCTGTCTGCACGTCTCTCGCCGTGTAGGATACAGGTGCCTCGGACCCTTCCTCCATAGAACTGTAGGGTTTCGTGTGTCCTAGCCTCAGCCTCAGATGGCCTTTCAAGATCCCCTATCTTCCCTGCTATATCCCTCAGCCCTGTTGTTTTGCCAGACTCAACCCTGAGATAGTACGTCCTGCCTTCCCGTCGTCCCCCATGGAGATGGGGGGAAGCAGGGCCACCTCTGGAGCTCCAGCTCTCCCTTGGCAGCCTCCCTTGGGGCACAGCCTCTGCACCTCTCTCCTTTCTCCACCCTGCTCATGCTCCACTACTGATTTCCTTCTTGTAGTCTACCCAGTCCCAGAGAATAAATGTATGGTCCCGGGGTGGGCATGGAGATGCCTCCCAC
Task1_train_1548
This alteration in PI4KB (phosphatidylinositol 4-kinase beta) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Hearing loss, autosomal dominant 87
CTTCTCAGGGAAGAGGTGGTAGTGACCAAGACAGGCAGGGAAAAAGCAAACTTCTATGTAGTGCCTTTTGTATCTTGGACACTGAGGCATCCGTTCATACCTCATCACCCATCTCCCCCTGCACTCCCCCAGAAAACCTGGAAATGACACAAGTGGCTAACTAAGGACTTTATTTCAAACAAAAATTAAAAATAAAAAATTGAGAGCTCTTTTCCCTGGGTTTGGGGAAGGAGTCAGGGTAGGGAATTCCACATGGCTAGGCCAGTACCCTCAGTACACTGGAGGGCTGTGGGAATTCCCTTCCTTGCCCATGATGGGGAACCTCAGCAAGTGCAGGGCCCACGCAGCGCCCGCCAGCAAGGGGAGCTTGGGCCAGGGGTCGGTCCCTGGGAGGGGTAGGTCCCTGGGAGGGGTAGAGCTGGGCAGCAGCATGGCCAGTGGCCAACCACAGGATCAAGTCCTAAGTACCGAGAACCTACTCTTCCCCACTTCCTGGGCCCCAGAACGGAATAAGAGGATGGCCTGTGGAAAGAACCTCTGAGAGACCCCTACAAGGAGAAGAAAGGCCCCAGTGTCCCTCACATTTGTCACCTCTGTTTTCTGGAGGGCAGTGAGTCCTGGAGTCAGTCTGGTGGTAATACTGACACAGACCAGGAGGGGCAGGGAAGCCCCAACAAGTCTGGACCCCACAGCTGGCTCTCCCACCCCTCAGCAAGCTCTCGCAGTTACCACATGATCCTTCGTGTTTCTTGCCTTCCATTTCCCTTGGGTGGATGGTTGGGTAGGTGGGGTTTCCTGGTTTGGGGTTTCTCAGACAAGGGCCCTCTAGGGAGGGTGCCCTGGACCCCCCACCACTCCTGGGCTGAGGAGCGTGTCACATGATGCCGTTGGTGAGGTACTGGAAGCCGTCATAGAGTTTGGTGGTGATAGACCGCATACTGCCATCCACCATCTGCTCCACCAGCAGCTGCAGCTGCTCCTCAGTCATGCTCATGTGGAACCTCTCTTTGAGGTTTCGAATGGTGCTGGAGCCATGGAAGCAAGGAAGCTGAGAACCTGGGGGAAGCAGTCGGAGTTCAGGGTCATGGATGGACGGGAGGGGCAGTGGTGTCAGCCATAGCAAATACAGAGCTGGGGCATCTGAAGTGCCCTTTTCCTCCCACCTCAGGTCCTTGATGATGTGGGTGCAGTTCTGCTTGGGCAGAGAGAAGGAACCGGCAGGAACCCCTCATCACCCCACGCCTAAGCCCTTCTGTAGGTGAGGGCATGTGGGCAGAGGAAGGAAGGGGACCAACACCACATCTCCCTCAGTAAGGGTGGAGGGGCCCAGAGGGCAGGCTGGGAGGAGGCTGGAGGGAGTGGGCCCTGAGCTGGGCACTTATCTGGTTGCAGACCTCTGCCTATGCTACGTCTGACACTCACAGATGACCTGGGCCACCGTCATCATGGGGCCAGATGGGGATGATCCTGAGCAACGGCGACAACCTGTGGGGTAGGGGCAGGAATGGGGAGGAGGGGGAGACTGGCAGTTCAGACCTGGTATACACCTGGAGCCTTGAGGAGGGGGATGAGGACAGAAGGGGGTCCTGGGCAAAAGACTGTAGATGGCAAGACTGTAGTGGAAGGAGATAATGATGAGAGGGGAAATACTTCTCAGAGCTGAAGGGTGGCAGAGGACAGGGCAATCAGAGGTCATAGTGGAATGGAGAAGACAGATGGAAGGAGACTGAGAAACTCAGAGCTGGACAGGGGTGGGGAGGTGAGAAGGGACCAGGAGGCTGTAAATGGGCCTGTTTTCTCCCTAAAGATGCCAAGGAGGCAGGTGCTGCTATCCCCTTCCCCAGCCTTCTGGACTTAGCCTTACCAGGGTCAGGAGGAATGTCCTAAAGGAGAAACAAGGCACTGGACCAGAGCTAGAAACTCTCTGGGAACCCCCCTCCCTCAACCGAGTCTCGTGGGATCAGCTTTCTTATGCTCCAGGGCTCCGACTTAAAGGGGAAGCCTGAGGCACTATAGCACCTGACCTCACCCCAGCCCCACCTTGCTGCATGATCTCCACGATCTGCACCACCTTGTCCATGTGTTTCCGAGCGGCAATCAGCCCTTGCAGCATCAGCATCTTATAGTAGTTGAACATGTCGCCATCCAGGCCGCCCATCACCTGGAAAGGGAAGAGAGCGTTGTGTGCACAAGGGGTCTTACACCGGGGATGGTCCCTGTCCTGACTGGCCTACCAGAACTCCTCCTCCTCTTGGGGCCCTGTTATTTCCCCCTTCCTTATTGGGCAGGAAGCTCCCAGGAACTCCTGCCTCACCCCTAATTACTGCCTGTTCTGTTCATCCCTAATTTGCAGGGAGCCCATCAGCTCCCTCTCCCATGACAGAGAAAGAATACAATGACCCCCGAGAGGCACCTCTCCTTCTTGACTCACATCCACAAACTCTGTGGTCAGCTTAAAGGCTGACGTCTCAAAGCCCAGATTTCGGGGTGAGCTGGAGAGGATGAAGCCAAAGTCGATGTGGATGATGTGGCCTTCTGCGTCCAAAAGGATATTCCCATTGTGTCTGAGGAGGGGGAATAGAGGAGAGGAAGAGGCAGTAGTCAGTCTGACTGAGGCTGGAACCTTAAGCAGCAATACACTGGCCACATGACACCAGGGAGGGGGGTCCCCTGCCATGTTTCCTGCTGCCCGTAACTCCAATCTCCTGTCCAGTTTCCTAGGACCTAAAGCTATCAGTGGAAAGAAAGGAAATCAGAAAACTGCTAACAAAGGCTATGGGGTCTGAAATTGCTATTAATAATTTAATAAAAATAGTTTAAGATTCTCCCAATTTCCCAGAAATTGCACTTCTGGCACCCAAACTATCCCAATCTAGTAGAGAATCCAGAAGCAAGGAAAGAGGGCCTCTGAGGCTCCAGCCAGCTGTCACAGAGGCCAAGCGCTCTACTCAGGGGAGGCTCTATTCTGAGCCTGTTTACCTGTGGGTTATTTGTAACTCCTGTCAGCCCACTGCAGATCAGAGGCCTCACTGGAAGGGAACAACAACAGAAGCAAGCAGGCTGAGTGGAGCTGAAATGTAAAATAGCGTGGGGGCTTCAAGGGGTAAGTTTTAAATCACTTACTTAAAAAGTCTCAGGATGAGGCAGTACTACAGGGCAGCTGTAGAAGAGTTAAAGGGAGATAAATCCCAGGTCTTTGTGATTCCCACATGAATGGCCAGTAGCAGAAGGAACAATTAACATGCTAAGCATGTGAGGCCTGGCCTATTCAGCATAACTGGCCTACTCAGTGTCAATAGAGGCTTTGTTAGGCTAAGAGCTGATGGTCTGAGGGCCACCTTCTCTGGGGTTGGTTTGGCCAAAAGAGGAGGGACAAAAGGAGAACCTAGTCCAACCTGAGTTCTTCCCCACTCAGGGAAAACACTAAAGATTTAGCAATCCAGGCACAATCTTGTGAGCCAGAATGGTTCTAGGAGTTGTCATGGTTCAACCTCACATTTTACAGGTGAAGAAAACAGAGGCCCTGAGAGAGGAAGTGATTTACTTGCCCAAGGTGCCATAGCCTCTCTTTTCACTACCAGAGTTAGCTCCAGCTGGAAAGCTGCTTAGGACTACTTTTGAAGCAGTTAAAGAGATCCTAAAACCTGACTCCAGTATGGGGCCTCATTCATTGTTGCCACTTCTTTCCATTGGTTGATTCCATTCATGGCTCGACTATATCTATTCTTTTTTGAGGTACTATGAACGGCTTATCAGCTACCTGCCCTCCTCTATCCCTTCTTTTTTAGAGGATGGACTCTCATCTTCCAAACATACTAATTCCCTAAAGGAAAGCCCTGGGGCCTGACTAGTGCCAGCTTCCCTGCCACCCATTTACTCAATCCCAGGACTGAGCTCTAGGCTCCCTGGGCCCTGAGTTCAAAATCCTGACACTTTGAGATAGTCTGAAGCTTGCAATCAAATTCCTTATAAATAATTGCATTCTCGGCCGGATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCC
CTTCTCAGGGAAGAGGTGGTAGTGACCAAGACAGGCAGGGAAAAAGCAAACTTCTATGTAGTGCCTTTTGTATCTTGGACACTGAGGCATCCGTTCATACCTCATCACCCATCTCCCCCTGCACTCCCCCAGAAAACCTGGAAATGACACAAGTGGCTAACTAAGGACTTTATTTCAAACAAAAATTAAAAATAAAAAATTGAGAGCTCTTTTCCCTGGGTTTGGGGAAGGAGTCAGGGTAGGGAATTCCACATGGCTAGGCCAGTACCCTCAGTACACTGGAGGGCTGTGGGAATTCCCTTCCTTGCCCATGATGGGGAACCTCAGCAAGTGCAGGGCCCACGCAGCGCCCGCCAGCAAGGGGAGCTTGGGCCAGGGGTCGGTCCCTGGGAGGGGTAGGTCCCTGGGAGGGGTAGAGCTGGGCAGCAGCATGGCCAGTGGCCAACCACAGGATCAAGTCCTAAGTACCGAGAACCTACTCTTCCCCACTTCCTGGGCCCCAGAACGGAATAAGAGGATGGCCTGTGGAAAGAACCTCTGAGAGACCCCTACAAGGAGAAGAAAGGCCCCAGTGTCCCTCACATTTGTCACCTCTGTTTTCTGGAGGGCAGTGAGTCCTGGAGTCAGTCTGGTGGTAATACTGACACAGACCAGGAGGGGCAGGGAAGCCCCAACAAGTCTGGACCCCACAGCTGGCTCTCCCACCCCTCAGCAAGCTCTCGCAGTTACCACATGATCCTTCGTGTTTCTTGCCTTCCATTTCCCTTGGGTGGATGGTTGGGTAGGTGGGGTTTCCTGGTTTGGGGTTTCTCAGACAAGGGCCCTCTAGGGAGGGTGCCCTGGACCCCCCACCACTCCTGGGCTGAGGAGCGTGTCACATGATGCCGTTGGTGAGGTACTGGAAGCCGTCATAGAGTTTGGTGGTGATAGACCGCATACTGCCATCCACCATCTGCTCCACCAGCAGCTGCAGCTGCTCCTCAGTCATGCTCATGTGGAACCTCTCTTTGAGGTTTCGAATGGTGCTGGAGCCATGGAAGCAAGGAAGCTGAGAACCTGGGGGAAGCAGTCGGAGTTCAGGGTCATGGATGGACGGGAGGGGCAGTGGTGTCAGCCATAGCAAATACAGAGCTGGGGCATCTGAAGTGCCCTTTTCCTCCCACCTCAGGTCCTTGATGATGTGGGTGCAGTTCTGCTTGGGCAGAGAGAAGGAACCGGCAGGAACCCCTCATCACCCCACGCCTAAGCCCTTCTGTAGGTGAGGGCATGTGGGCAGAGGAAGGAAGGGGACCAACACCACATCTCCCTCAGTAAGGGTGGAGGGGCCCAGAGGGCAGGCTGGGAGGAGGCTGGAGGGAGTGGGCCCTGAGCTGGGCACTTATCTGGTTGCAGACCTCTGCCTATGCTACGTCTGACACTCACAGATGACCTGGGCCACCGTCATCATGGGGCCAGATGGGGATGATCCTGAGCAACGGCGACAACCTGTGGGGTAGGGGCAGGAATGGGGAGGAGGGGGAGACTGGCAGTTCAGACCTGGTATACACCTGGAGCCTTGAGGAGGGGGATGAGGACAGAAGGGGGTCCTGGGCAAAAGACTGTAGATGGCAAGACTGTAGTGGAAGGAGATAATGATGAGAGGGGAAATACTTCTCAGAGCTGAAGGGTGGCAGAGGACAGGGCAATCAGAGGTCATAGTGGAATGGAGAAGACAGATGGAAGGAGACTGAGAAACTCAGAGCTGGACAGGGGTGGGGAGGTGAGAAGGGACCAGGAGGCTGTAAATGGGCCTGTTTTCTCCCTAAAGATGCCAAGGAGGCAGGTGCTGCTATCCCCTTCCCCAGCCTTCTGGACTTAGCCTTACCAGGGTCAGGAGGAATGTCCTAAAGGAGAAACAAGGCACTGGACCAGAGCTAGAAACTCTCTGGGAACCCCCCTCCCTCAACCGAGTCTCGTGGGATCAGCTTTCTTATGCTCCAGGGCTCCGACTTAAAGGGGAAGCCTGAGGCACTATAGCACCTGACCTCACCCCAGCCCCACCTTGCTGCCTGATCTCCACGATCTGCACCACCTTGTCCATGTGTTTCCGAGCGGCAATCAGCCCTTGCAGCATCAGCATCTTATAGTAGTTGAACATGTCGCCATCCAGGCCGCCCATCACCTGGAAAGGGAAGAGAGCGTTGTGTGCACAAGGGGTCTTACACCGGGGATGGTCCCTGTCCTGACTGGCCTACCAGAACTCCTCCTCCTCTTGGGGCCCTGTTATTTCCCCCTTCCTTATTGGGCAGGAAGCTCCCAGGAACTCCTGCCTCACCCCTAATTACTGCCTGTTCTGTTCATCCCTAATTTGCAGGGAGCCCATCAGCTCCCTCTCCCATGACAGAGAAAGAATACAATGACCCCCGAGAGGCACCTCTCCTTCTTGACTCACATCCACAAACTCTGTGGTCAGCTTAAAGGCTGACGTCTCAAAGCCCAGATTTCGGGGTGAGCTGGAGAGGATGAAGCCAAAGTCGATGTGGATGATGTGGCCTTCTGCGTCCAAAAGGATATTCCCATTGTGTCTGAGGAGGGGGAATAGAGGAGAGGAAGAGGCAGTAGTCAGTCTGACTGAGGCTGGAACCTTAAGCAGCAATACACTGGCCACATGACACCAGGGAGGGGGGTCCCCTGCCATGTTTCCTGCTGCCCGTAACTCCAATCTCCTGTCCAGTTTCCTAGGACCTAAAGCTATCAGTGGAAAGAAAGGAAATCAGAAAACTGCTAACAAAGGCTATGGGGTCTGAAATTGCTATTAATAATTTAATAAAAATAGTTTAAGATTCTCCCAATTTCCCAGAAATTGCACTTCTGGCACCCAAACTATCCCAATCTAGTAGAGAATCCAGAAGCAAGGAAAGAGGGCCTCTGAGGCTCCAGCCAGCTGTCACAGAGGCCAAGCGCTCTACTCAGGGGAGGCTCTATTCTGAGCCTGTTTACCTGTGGGTTATTTGTAACTCCTGTCAGCCCACTGCAGATCAGAGGCCTCACTGGAAGGGAACAACAACAGAAGCAAGCAGGCTGAGTGGAGCTGAAATGTAAAATAGCGTGGGGGCTTCAAGGGGTAAGTTTTAAATCACTTACTTAAAAAGTCTCAGGATGAGGCAGTACTACAGGGCAGCTGTAGAAGAGTTAAAGGGAGATAAATCCCAGGTCTTTGTGATTCCCACATGAATGGCCAGTAGCAGAAGGAACAATTAACATGCTAAGCATGTGAGGCCTGGCCTATTCAGCATAACTGGCCTACTCAGTGTCAATAGAGGCTTTGTTAGGCTAAGAGCTGATGGTCTGAGGGCCACCTTCTCTGGGGTTGGTTTGGCCAAAAGAGGAGGGACAAAAGGAGAACCTAGTCCAACCTGAGTTCTTCCCCACTCAGGGAAAACACTAAAGATTTAGCAATCCAGGCACAATCTTGTGAGCCAGAATGGTTCTAGGAGTTGTCATGGTTCAACCTCACATTTTACAGGTGAAGAAAACAGAGGCCCTGAGAGAGGAAGTGATTTACTTGCCCAAGGTGCCATAGCCTCTCTTTTCACTACCAGAGTTAGCTCCAGCTGGAAAGCTGCTTAGGACTACTTTTGAAGCAGTTAAAGAGATCCTAAAACCTGACTCCAGTATGGGGCCTCATTCATTGTTGCCACTTCTTTCCATTGGTTGATTCCATTCATGGCTCGACTATATCTATTCTTTTTTGAGGTACTATGAACGGCTTATCAGCTACCTGCCCTCCTCTATCCCTTCTTTTTTAGAGGATGGACTCTCATCTTCCAAACATACTAATTCCCTAAAGGAAAGCCCTGGGGCCTGACTAGTGCCAGCTTCCCTGCCACCCATTTACTCAATCCCAGGACTGAGCTCTAGGCTCCCTGGGCCCTGAGTTCAAAATCCTGACACTTTGAGATAGTCTGAAGCTTGCAATCAAATTCCTTATAAATAATTGCATTCTCGGCCGGATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCC
Task1_train_1549
This variant impacts the gene PI4KB (phosphatidylinositol 4-kinase beta) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
Pathogenic; Hearing loss, autosomal dominant 87
ACTTCCTGGGCCCCAGAACGGAATAAGAGGATGGCCTGTGGAAAGAACCTCTGAGAGACCCCTACAAGGAGAAGAAAGGCCCCAGTGTCCCTCACATTTGTCACCTCTGTTTTCTGGAGGGCAGTGAGTCCTGGAGTCAGTCTGGTGGTAATACTGACACAGACCAGGAGGGGCAGGGAAGCCCCAACAAGTCTGGACCCCACAGCTGGCTCTCCCACCCCTCAGCAAGCTCTCGCAGTTACCACATGATCCTTCGTGTTTCTTGCCTTCCATTTCCCTTGGGTGGATGGTTGGGTAGGTGGGGTTTCCTGGTTTGGGGTTTCTCAGACAAGGGCCCTCTAGGGAGGGTGCCCTGGACCCCCCACCACTCCTGGGCTGAGGAGCGTGTCACATGATGCCGTTGGTGAGGTACTGGAAGCCGTCATAGAGTTTGGTGGTGATAGACCGCATACTGCCATCCACCATCTGCTCCACCAGCAGCTGCAGCTGCTCCTCAGTCATGCTCATGTGGAACCTCTCTTTGAGGTTTCGAATGGTGCTGGAGCCATGGAAGCAAGGAAGCTGAGAACCTGGGGGAAGCAGTCGGAGTTCAGGGTCATGGATGGACGGGAGGGGCAGTGGTGTCAGCCATAGCAAATACAGAGCTGGGGCATCTGAAGTGCCCTTTTCCTCCCACCTCAGGTCCTTGATGATGTGGGTGCAGTTCTGCTTGGGCAGAGAGAAGGAACCGGCAGGAACCCCTCATCACCCCACGCCTAAGCCCTTCTGTAGGTGAGGGCATGTGGGCAGAGGAAGGAAGGGGACCAACACCACATCTCCCTCAGTAAGGGTGGAGGGGCCCAGAGGGCAGGCTGGGAGGAGGCTGGAGGGAGTGGGCCCTGAGCTGGGCACTTATCTGGTTGCAGACCTCTGCCTATGCTACGTCTGACACTCACAGATGACCTGGGCCACCGTCATCATGGGGCCAGATGGGGATGATCCTGAGCAACGGCGACAACCTGTGGGGTAGGGGCAGGAATGGGGAGGAGGGGGAGACTGGCAGTTCAGACCTGGTATACACCTGGAGCCTTGAGGAGGGGGATGAGGACAGAAGGGGGTCCTGGGCAAAAGACTGTAGATGGCAAGACTGTAGTGGAAGGAGATAATGATGAGAGGGGAAATACTTCTCAGAGCTGAAGGGTGGCAGAGGACAGGGCAATCAGAGGTCATAGTGGAATGGAGAAGACAGATGGAAGGAGACTGAGAAACTCAGAGCTGGACAGGGGTGGGGAGGTGAGAAGGGACCAGGAGGCTGTAAATGGGCCTGTTTTCTCCCTAAAGATGCCAAGGAGGCAGGTGCTGCTATCCCCTTCCCCAGCCTTCTGGACTTAGCCTTACCAGGGTCAGGAGGAATGTCCTAAAGGAGAAACAAGGCACTGGACCAGAGCTAGAAACTCTCTGGGAACCCCCCTCCCTCAACCGAGTCTCGTGGGATCAGCTTTCTTATGCTCCAGGGCTCCGACTTAAAGGGGAAGCCTGAGGCACTATAGCACCTGACCTCACCCCAGCCCCACCTTGCTGCATGATCTCCACGATCTGCACCACCTTGTCCATGTGTTTCCGAGCGGCAATCAGCCCTTGCAGCATCAGCATCTTATAGTAGTTGAACATGTCGCCATCCAGGCCGCCCATCACCTGGAAAGGGAAGAGAGCGTTGTGTGCACAAGGGGTCTTACACCGGGGATGGTCCCTGTCCTGACTGGCCTACCAGAACTCCTCCTCCTCTTGGGGCCCTGTTATTTCCCCCTTCCTTATTGGGCAGGAAGCTCCCAGGAACTCCTGCCTCACCCCTAATTACTGCCTGTTCTGTTCATCCCTAATTTGCAGGGAGCCCATCAGCTCCCTCTCCCATGACAGAGAAAGAATACAATGACCCCCGAGAGGCACCTCTCCTTCTTGACTCACATCCACAAACTCTGTGGTCAGCTTAAAGGCTGACGTCTCAAAGCCCAGATTTCGGGGTGAGCTGGAGAGGATGAAGCCAAAGTCGATGTGGATGATGTGGCCTTCTGCGTCCAAAAGGATATTCCCATTGTGTCTGAGGAGGGGGAATAGAGGAGAGGAAGAGGCAGTAGTCAGTCTGACTGAGGCTGGAACCTTAAGCAGCAATACACTGGCCACATGACACCAGGGAGGGGGGTCCCCTGCCATGTTTCCTGCTGCCCGTAACTCCAATCTCCTGTCCAGTTTCCTAGGACCTAAAGCTATCAGTGGAAAGAAAGGAAATCAGAAAACTGCTAACAAAGGCTATGGGGTCTGAAATTGCTATTAATAATTTAATAAAAATAGTTTAAGATTCTCCCAATTTCCCAGAAATTGCACTTCTGGCACCCAAACTATCCCAATCTAGTAGAGAATCCAGAAGCAAGGAAAGAGGGCCTCTGAGGCTCCAGCCAGCTGTCACAGAGGCCAAGCGCTCTACTCAGGGGAGGCTCTATTCTGAGCCTGTTTACCTGTGGGTTATTTGTAACTCCTGTCAGCCCACTGCAGATCAGAGGCCTCACTGGAAGGGAACAACAACAGAAGCAAGCAGGCTGAGTGGAGCTGAAATGTAAAATAGCGTGGGGGCTTCAAGGGGTAAGTTTTAAATCACTTACTTAAAAAGTCTCAGGATGAGGCAGTACTACAGGGCAGCTGTAGAAGAGTTAAAGGGAGATAAATCCCAGGTCTTTGTGATTCCCACATGAATGGCCAGTAGCAGAAGGAACAATTAACATGCTAAGCATGTGAGGCCTGGCCTATTCAGCATAACTGGCCTACTCAGTGTCAATAGAGGCTTTGTTAGGCTAAGAGCTGATGGTCTGAGGGCCACCTTCTCTGGGGTTGGTTTGGCCAAAAGAGGAGGGACAAAAGGAGAACCTAGTCCAACCTGAGTTCTTCCCCACTCAGGGAAAACACTAAAGATTTAGCAATCCAGGCACAATCTTGTGAGCCAGAATGGTTCTAGGAGTTGTCATGGTTCAACCTCACATTTTACAGGTGAAGAAAACAGAGGCCCTGAGAGAGGAAGTGATTTACTTGCCCAAGGTGCCATAGCCTCTCTTTTCACTACCAGAGTTAGCTCCAGCTGGAAAGCTGCTTAGGACTACTTTTGAAGCAGTTAAAGAGATCCTAAAACCTGACTCCAGTATGGGGCCTCATTCATTGTTGCCACTTCTTTCCATTGGTTGATTCCATTCATGGCTCGACTATATCTATTCTTTTTTGAGGTACTATGAACGGCTTATCAGCTACCTGCCCTCCTCTATCCCTTCTTTTTTAGAGGATGGACTCTCATCTTCCAAACATACTAATTCCCTAAAGGAAAGCCCTGGGGCCTGACTAGTGCCAGCTTCCCTGCCACCCATTTACTCAATCCCAGGACTGAGCTCTAGGCTCCCTGGGCCCTGAGTTCAAAATCCTGACACTTTGAGATAGTCTGAAGCTTGCAATCAAATTCCTTATAAATAATTGCATTCTCGGCCGGATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGTGGGAGAATCACTTGAACTCTGGGAGGCAGAGGTTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCACACACACACACAAAAATATTACATTCTCCTACAGCTCTCAAATGCAGAGCCTGGGTCCATTTGTAGGGCTGGCAGGGTGGAATGAGCGCAGGGTGGAATGAGCACAGGGTCTAAAAGCTACCTGACTGTTATTTCCCTCATGAGGAAACACGTGTCTGACAGGGTTTTCATCTGGTTTAAATATAAGAATGTCAGGCCATGGCAGAACTTAATAGATGCTAGATTTCTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGTGTGCAATGGTGCGATCTTGGCTCACTGCAACTTCTGCCT
ACTTCCTGGGCCCCAGAACGGAATAAGAGGATGGCCTGTGGAAAGAACCTCTGAGAGACCCCTACAAGGAGAAGAAAGGCCCCAGTGTCCCTCACATTTGTCACCTCTGTTTTCTGGAGGGCAGTGAGTCCTGGAGTCAGTCTGGTGGTAATACTGACACAGACCAGGAGGGGCAGGGAAGCCCCAACAAGTCTGGACCCCACAGCTGGCTCTCCCACCCCTCAGCAAGCTCTCGCAGTTACCACATGATCCTTCGTGTTTCTTGCCTTCCATTTCCCTTGGGTGGATGGTTGGGTAGGTGGGGTTTCCTGGTTTGGGGTTTCTCAGACAAGGGCCCTCTAGGGAGGGTGCCCTGGACCCCCCACCACTCCTGGGCTGAGGAGCGTGTCACATGATGCCGTTGGTGAGGTACTGGAAGCCGTCATAGAGTTTGGTGGTGATAGACCGCATACTGCCATCCACCATCTGCTCCACCAGCAGCTGCAGCTGCTCCTCAGTCATGCTCATGTGGAACCTCTCTTTGAGGTTTCGAATGGTGCTGGAGCCATGGAAGCAAGGAAGCTGAGAACCTGGGGGAAGCAGTCGGAGTTCAGGGTCATGGATGGACGGGAGGGGCAGTGGTGTCAGCCATAGCAAATACAGAGCTGGGGCATCTGAAGTGCCCTTTTCCTCCCACCTCAGGTCCTTGATGATGTGGGTGCAGTTCTGCTTGGGCAGAGAGAAGGAACCGGCAGGAACCCCTCATCACCCCACGCCTAAGCCCTTCTGTAGGTGAGGGCATGTGGGCAGAGGAAGGAAGGGGACCAACACCACATCTCCCTCAGTAAGGGTGGAGGGGCCCAGAGGGCAGGCTGGGAGGAGGCTGGAGGGAGTGGGCCCTGAGCTGGGCACTTATCTGGTTGCAGACCTCTGCCTATGCTACGTCTGACACTCACAGATGACCTGGGCCACCGTCATCATGGGGCCAGATGGGGATGATCCTGAGCAACGGCGACAACCTGTGGGGTAGGGGCAGGAATGGGGAGGAGGGGGAGACTGGCAGTTCAGACCTGGTATACACCTGGAGCCTTGAGGAGGGGGATGAGGACAGAAGGGGGTCCTGGGCAAAAGACTGTAGATGGCAAGACTGTAGTGGAAGGAGATAATGATGAGAGGGGAAATACTTCTCAGAGCTGAAGGGTGGCAGAGGACAGGGCAATCAGAGGTCATAGTGGAATGGAGAAGACAGATGGAAGGAGACTGAGAAACTCAGAGCTGGACAGGGGTGGGGAGGTGAGAAGGGACCAGGAGGCTGTAAATGGGCCTGTTTTCTCCCTAAAGATGCCAAGGAGGCAGGTGCTGCTATCCCCTTCCCCAGCCTTCTGGACTTAGCCTTACCAGGGTCAGGAGGAATGTCCTAAAGGAGAAACAAGGCACTGGACCAGAGCTAGAAACTCTCTGGGAACCCCCCTCCCTCAACCGAGTCTCGTGGGATCAGCTTTCTTATGCTCCAGGGCTCCGACTTAAAGGGGAAGCCTGAGGCACTATAGCACCTGACCTCACCCCAGCCCCACCTTGCTGCATGATCTCCACGATCTGCACCACCTTGTCCATGTGTTTCCGAGCGGCAATCAGCCCTTGCAGCATCAGCATCTTATAGTAGTTGAACATGTCGCCATCCAGGCCGCCCATCACCTGGAAAGGGAAGAGAGCGTTGTGTGCACAAGGGGTCTTACACCGGGGATGGTCCCTGTCCTGACTGGCCTACCAGAACTCCTCCTCCTCTTGGGGCCCTGTTATTTCCCCCTTCCTTATTGGGCAGGAAGCTCCCAGGAACTCCTGCCTCACCCCTAATTACTGCCTGTTCTGTTCATCCCTAATTTGCAGGGAGCCCATCAGCTCCCTCTCCCATGACAGAGAAAGAATACAATGACCCCCGAGAGGCACCTCTCCTTCTTGACTCACATCCACAAACTCTGTGGTCAGCTTAAAGGCTGACGTCTCAAAGCCCAGATTTCGGGGTGAGCTGGAGAGGATGAAGCCAAAGTCGATGTGGATGATGTGGCCTTTTGCGTCCAAAAGGATATTCCCATTGTGTCTGAGGAGGGGGAATAGAGGAGAGGAAGAGGCAGTAGTCAGTCTGACTGAGGCTGGAACCTTAAGCAGCAATACACTGGCCACATGACACCAGGGAGGGGGGTCCCCTGCCATGTTTCCTGCTGCCCGTAACTCCAATCTCCTGTCCAGTTTCCTAGGACCTAAAGCTATCAGTGGAAAGAAAGGAAATCAGAAAACTGCTAACAAAGGCTATGGGGTCTGAAATTGCTATTAATAATTTAATAAAAATAGTTTAAGATTCTCCCAATTTCCCAGAAATTGCACTTCTGGCACCCAAACTATCCCAATCTAGTAGAGAATCCAGAAGCAAGGAAAGAGGGCCTCTGAGGCTCCAGCCAGCTGTCACAGAGGCCAAGCGCTCTACTCAGGGGAGGCTCTATTCTGAGCCTGTTTACCTGTGGGTTATTTGTAACTCCTGTCAGCCCACTGCAGATCAGAGGCCTCACTGGAAGGGAACAACAACAGAAGCAAGCAGGCTGAGTGGAGCTGAAATGTAAAATAGCGTGGGGGCTTCAAGGGGTAAGTTTTAAATCACTTACTTAAAAAGTCTCAGGATGAGGCAGTACTACAGGGCAGCTGTAGAAGAGTTAAAGGGAGATAAATCCCAGGTCTTTGTGATTCCCACATGAATGGCCAGTAGCAGAAGGAACAATTAACATGCTAAGCATGTGAGGCCTGGCCTATTCAGCATAACTGGCCTACTCAGTGTCAATAGAGGCTTTGTTAGGCTAAGAGCTGATGGTCTGAGGGCCACCTTCTCTGGGGTTGGTTTGGCCAAAAGAGGAGGGACAAAAGGAGAACCTAGTCCAACCTGAGTTCTTCCCCACTCAGGGAAAACACTAAAGATTTAGCAATCCAGGCACAATCTTGTGAGCCAGAATGGTTCTAGGAGTTGTCATGGTTCAACCTCACATTTTACAGGTGAAGAAAACAGAGGCCCTGAGAGAGGAAGTGATTTACTTGCCCAAGGTGCCATAGCCTCTCTTTTCACTACCAGAGTTAGCTCCAGCTGGAAAGCTGCTTAGGACTACTTTTGAAGCAGTTAAAGAGATCCTAAAACCTGACTCCAGTATGGGGCCTCATTCATTGTTGCCACTTCTTTCCATTGGTTGATTCCATTCATGGCTCGACTATATCTATTCTTTTTTGAGGTACTATGAACGGCTTATCAGCTACCTGCCCTCCTCTATCCCTTCTTTTTTAGAGGATGGACTCTCATCTTCCAAACATACTAATTCCCTAAAGGAAAGCCCTGGGGCCTGACTAGTGCCAGCTTCCCTGCCACCCATTTACTCAATCCCAGGACTGAGCTCTAGGCTCCCTGGGCCCTGAGTTCAAAATCCTGACACTTTGAGATAGTCTGAAGCTTGCAATCAAATTCCTTATAAATAATTGCATTCTCGGCCGGATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGTGGGAGAATCACTTGAACTCTGGGAGGCAGAGGTTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCACACACACACACAAAAATATTACATTCTCCTACAGCTCTCAAATGCAGAGCCTGGGTCCATTTGTAGGGCTGGCAGGGTGGAATGAGCGCAGGGTGGAATGAGCACAGGGTCTAAAAGCTACCTGACTGTTATTTCCCTCATGAGGAAACACGTGTCTGACAGGGTTTTCATCTGGTTTAAATATAAGAATGTCAGGCCATGGCAGAACTTAATAGATGCTAGATTTCTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGTGTGCAATGGTGCGATCTTGGCTCACTGCAACTTCTGCCT
Task1_train_1550
The variant affects gene PI4KB (phosphatidylinositol 4-kinase beta), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Hearing loss, autosomal dominant 87
CCCCAAGGCCCATGTCAAGTCTCTTCTGTCCTTCATACCAGAGCATTTCTTCTCAACTCCATTTGTCACCTAGTACACACTGCTTTGTTGTATATCTAAATTTTTTTTTCTTAAATGTCTAATTTCTGCAATTGGACTATAAGCTCAAAGACAGAGATTCTGCCTTTTGGCAAAGTGAAACCTGGCTGTGTGTTTTTTTTTTTTTTTTTTAGACGGAGTTTCGCTCTTGTTGCCCACGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCGACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCGCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGGAACGGGGTTTCACCATGTTAGTCAGGCTGTTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCGAAGTGCTGGGATTGCAGGCGTGAGCCACCGCGCCTGGCCCTGGCTGTGTTTTTGTTTTGTTTTGTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGCTGTGATCTCAGCTCCCTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTTGTGCTTCAAGAATCACTTGCCTCCCGAGTAGCTGGGATTACAGGCATGTTCCACCACACCTGGCTTTTTTTTTTTTTTCTTTTGAGACGGAATTTTGCTTGTCACCCAGGCTGAAGTGCAGTGGCGTGATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCGAATAATTCTACTGCCTCAGCCTCCCGATTAGCTGGGATTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCTCGCCCTGTCCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACCGCACCCGGCATAATTTTTCTAGTTTTAGTGGAGATGGAGTTTCACCTTGTTGGCCAGGCTGGTCTCGAAATCCTGACTTCAAGCGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCAGCTGTGTTAATAGCTCTACACAAAATTCTGCTCTGGCTCTTCATGCCCCAGAATAAAGTTCAAGTTTCTTTCCCCAGCTTACAGGGTCCTTCCTATAGTCTGGTCCATGCCCACGTGTCCAGTCTTATTCTTCACCACTTCTTACCTCACACCTGCACATCACAGCCAGGCAAAATTTCTTTCAATTCCTATAATGGCCCAAGCTCCCTCTTGTCTTCTGGCCTTTGCATGCAGTGTTCCCTCTGTCCAGCACTCTTTGTCCAGCTAATTCCTACCCATGCTTCCAGCCTCAGCTGAGAGATTACTTCCTCCAGGAAATCTCTTGTGATGCCCGCCCCAAGTCTGGTGCTCTTATAATGTCCTATCCTTTCCCCCATGACTTGACTCTCACCACACTACAACTACTTGCTTACTGGCCTTGTTCTCTTTCCAGTTAGGTCATAAATCCCTTGTAGGCAGGGGCCAAGTCTTGTTCACTAGCATACAGCACTCAGGTCTGGCACATAGAAGGCCCTCAATAAAAATTTCTTGAATGAATTAATGTATGACTTCTCATCCTCTGCTATTCTATGACAACTTTATGTAGGTGTTCAATAAATATTTTCATTAAATTTCCCTCACTCCCCTTGGCCTAGAAGCTCCTCTTTACATTTAAATCTGAATCCTTCACCTGGAAAATGAACTCCACCTGAATCTATTCCAGGCTAGAGTTGTTCAGAGCTTTCCCCATATTACCCCTCACTACCTACACCACTCATTAGGATACTTGCCTTACCCTGCCTTGGGATATGCTGTCTTGTTTCCAATATAGTGAAAGCTCCTGGAGAAAGCTCCTGTGACCCAGCATTACCTCCCTGAAGCCCTCTCACCTCCACTTGCAGCTCGCCTATGTCATCCACCGACCAGGCCTCATCATCGTTGTCATAGTTGGGCACAGTGCTGAAGCTGCCAGCTCGCTGCTCATGGGTAATACCACATTCGGGCAAGTTTTCTACGGACCTCGTACTCCGAATTCGGTTCTCGGGGATCCGGGCAGGGACACTGGTGGTGTCAAAGTTTTCACATTCAAGGACTTCCACATAAATCAGGTAGGGAGCCTGGGGGAAGAGTGAGACAGTATTTGCAACTTACTTCCACCACTAACCCCCAAATCTCAACTCTGTTAGCAAGGTTCTTCCTGCTGTCCTTTCTCCTAGCTCCAGCCTTCATCCAATAGTCCTCTGAAACTATGAACACTATATTTAGGGCAGATACTTGTCCTATGATCACCTATGTAAAGAATTTGTGTGACAGAATCCTTAAGTCTTCAAAATATTTCAACTGAGCTCCAAAATGTACAGATGATGTGCTTGGGCCAAACCACTCTAGACTATCAATTACAGGCTGTAAGGGAGGCCTAGATGCCTCTGTGGGCTCGTCCTGAAGACAGGGCCCAGGGAGCTACAGTGGACAAAAAGACTGGGACAAAGCTGGGCACTGTCCCAAGGAGTGTCCCAAACTTCAGTATTTCCTTTGAAAGAAGAATATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGGGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGCGAAACCCCGTCGCTACTAAAACTACAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGTTGCGGAGGTTGCAGTAAGCCAAGATTGTGCCACTGCACTCCAGCCTCCGCAATAGAGTGAGACTCCATCTCAAAAAAAAAAGAAGAATCTGAACCATGAATACTCATTCCAGTCAGCACACAAATTCAGCTAATTCTCTCCAGTGTGAATTGGGCATCCTTCTCTCCTTTTGTCGGCTCATTCTGATCAGAAAAGGTCTTAGAAACAAAATATTTCTCTATCCTTATGGTTGCTGTATCTGGAAAGCCCAAGAGTTATAGAAAGGCTGGAGAAAAGCTACCAAAATGACCATAAGGTGGGGTGAAGAGCAATTCTCCTAAGATACAGCAAGAAGGAAGCTAAAAAGATTAGGTTTCTTTGGTCCAGAAAAACAAAGCCCAAAAAGGGATACAGGGGGGCTCTCAAAATCACAATCGCACTGAGACAGAGTCATGGTTGACATATGCATCATGAACTATGAAGGGAGTCTAGGATGTTGGTGAGGGCCTCACTGGTCATACACGCAAACTCTGAACAACCATGGGTGAAGAGTCACGTCCAGGGTAGGGGTTTGGGCCAGAACCCATCTACCTTGTCCTTGGAGTTGAGGACAACAGCCTGTGTGTGGGGTACACGGACCACGTGGTGGTCAAAGCCAGCAGTGGGCAGCCAGACTCGGGCAGGGAGCTTATGGTTGAGCAGGGAGAGCTCTGAGATCAGCCTCTGTGTTTTCTGCTCTTTGGTGGGGAGCGTGGCCAGCCGCTTGCCGATCGCCATCAGGGACTTGATGAATTCTCTCTCAGGAGCCAGTCGAACAGGCTACAGGGGTTTGGGGTAAGACAAAAGATGGTGAAGAAACCATAGAATACAATGGCACACCCACTCAGTCACTCCTGGCCATGCAGGCCGGGGACCCCACTATCTGGAGAACTCCAGGAAAGCAGCTGCTTTTTAGTCTTAGTAGGAGCTTCCACCCACCCTTCACAACTTGAATTGAGAATAGCCAGCACATTCCTTCCCTATAGGCTATCCCTTGAGGGTAAGGGAGGCCATGAGTCCAGGTAACTGGGATGCACTCCTCTTCTCCTGGACTTGGGTTCCTTAAGGACTGTACCAAGGCTTCAGAGTGAGCAGGGGGACATCTGGATAGGTTAGCCAGGGCCACAGAGAGAAGAGCTGCTTACACCTGAATTGTTTCACCCTTTTCAAGAACAGGGTTGTCCTTCTCCCCATCTGGATCCTTGGGCTAGATCTCTGCCGAGGGG
CCCCAAGGCCCATGTCAAGTCTCTTCTGTCCTTCATACCAGAGCATTTCTTCTCAACTCCATTTGTCACCTAGTACACACTGCTTTGTTGTATATCTAAATTTTTTTTTCTTAAATGTCTAATTTCTGCAATTGGACTATAAGCTCAAAGACAGAGATTCTGCCTTTTGGCAAAGTGAAACCTGGCTGTGTGTTTTTTTTTTTTTTTTTTAGACGGAGTTTCGCTCTTGTTGCCCACGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCGACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCGCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGGAACGGGGTTTCACCATGTTAGTCAGGCTGTTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCGAAGTGCTGGGATTGCAGGCGTGAGCCACCGCGCCTGGCCCTGGCTGTGTTTTTGTTTTGTTTTGTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGCTGTGATCTCAGCTCCCTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTTGTGCTTCAAGAATCACTTGCCTCCCGAGTAGCTGGGATTACAGGCATGTTCCACCACACCTGGCTTTTTTTTTTTTTTCTTTTGAGACGGAATTTTGCTTGTCACCCAGGCTGAAGTGCAGTGGCGTGATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCGAATAATTCTACTGCCTCAGCCTCCCGATTAGCTGGGATTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCTCGCCCTGTCCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACCGCACCCGGCATAATTTTTCTAGTTTTAGTGGAGATGGAGTTTCACCTTGTTGGCCAGGCTGGTCTCGAAATCCTGACTTCAAGCGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCAGCTGTGTTAATAGCTCTACACAAAATTCTGCTCTGGCTCTTCATGCCCCAGAATAAAGTTCAAGTTTCTTTCCCCAGCTTACAGGGTCCTTCCTATAGTCTGGTCCATGCCCACGTGTCCAGTCTTATTCTTCACCACTTCTTACCTCACACCTGCACATCACAGCCAGGCAAAATTTCTTTCAATTCCTATAATGGCCCAAGCTCCCTCTTGTCTTCTGGCCTTTGCATGCAGTGTTCCCTCTGTCCAGCACTCTTTGTCCAGCTAATTCCTACCCATGCTTCCAGCCTCAGCTGAGAGATTACTTCCTCCAGGAAATCTCTTGTGATGCCCGCCCCAAGTCTGGTGCTCTTATAATGTCCTATCCTTTCCCCCATGACTTGACTCTCACCACACTACAACTACTTGCTTACTGGCCTTGTTCTCTTTCCAGTTAGGTCATAAATCCCTTGTAGGCAGGGGCCAAGTCTTGTTCACTAGCATACAGCACTCAGGTCTGGCACATAGAAGGCCCTCAATAAAAATTTCTTGAATGAATTAATGTATGACTTCTCATCCTCTGCTATTCTATGACAACTTTATGTAGGTGTTCAATAAATATTTTCATTAAATTTCCCTCACTCCCCTTGGCCTAGAAGCTCCTCTTTACATTTAAATCTGAATCCTTCACCTGGAAAATGAACTCCACCTGAATCTATTCCAGGCTAGAGTTGTTCAGAGCTTTCCCCATATTACCCCTCACTACCTACACCACTCATTAGGATACTTGCCTTACCCTGCCTTGGGATATGCTGTCTTGTTTCCAATATAGTGAAAGCTCCTGGAGAAAGCTCCTGTGACCCAGCATTACCTCCCTGAAGCCCTCTCACCTCCACTTGCAGCTCGCCTATGTCATCCACCGACCAGGCCTCATCATCGTTGTCATAGTTGGGCCCAGTGCTGAAGCTGCCAGCTCGCTGCTCATGGGTAATACCACATTCGGGCAAGTTTTCTACGGACCTCGTACTCCGAATTCGGTTCTCGGGGATCCGGGCAGGGACACTGGTGGTGTCAAAGTTTTCACATTCAAGGACTTCCACATAAATCAGGTAGGGAGCCTGGGGGAAGAGTGAGACAGTATTTGCAACTTACTTCCACCACTAACCCCCAAATCTCAACTCTGTTAGCAAGGTTCTTCCTGCTGTCCTTTCTCCTAGCTCCAGCCTTCATCCAATAGTCCTCTGAAACTATGAACACTATATTTAGGGCAGATACTTGTCCTATGATCACCTATGTAAAGAATTTGTGTGACAGAATCCTTAAGTCTTCAAAATATTTCAACTGAGCTCCAAAATGTACAGATGATGTGCTTGGGCCAAACCACTCTAGACTATCAATTACAGGCTGTAAGGGAGGCCTAGATGCCTCTGTGGGCTCGTCCTGAAGACAGGGCCCAGGGAGCTACAGTGGACAAAAAGACTGGGACAAAGCTGGGCACTGTCCCAAGGAGTGTCCCAAACTTCAGTATTTCCTTTGAAAGAAGAATATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGGGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGCGAAACCCCGTCGCTACTAAAACTACAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGTTGCGGAGGTTGCAGTAAGCCAAGATTGTGCCACTGCACTCCAGCCTCCGCAATAGAGTGAGACTCCATCTCAAAAAAAAAAGAAGAATCTGAACCATGAATACTCATTCCAGTCAGCACACAAATTCAGCTAATTCTCTCCAGTGTGAATTGGGCATCCTTCTCTCCTTTTGTCGGCTCATTCTGATCAGAAAAGGTCTTAGAAACAAAATATTTCTCTATCCTTATGGTTGCTGTATCTGGAAAGCCCAAGAGTTATAGAAAGGCTGGAGAAAAGCTACCAAAATGACCATAAGGTGGGGTGAAGAGCAATTCTCCTAAGATACAGCAAGAAGGAAGCTAAAAAGATTAGGTTTCTTTGGTCCAGAAAAACAAAGCCCAAAAAGGGATACAGGGGGGCTCTCAAAATCACAATCGCACTGAGACAGAGTCATGGTTGACATATGCATCATGAACTATGAAGGGAGTCTAGGATGTTGGTGAGGGCCTCACTGGTCATACACGCAAACTCTGAACAACCATGGGTGAAGAGTCACGTCCAGGGTAGGGGTTTGGGCCAGAACCCATCTACCTTGTCCTTGGAGTTGAGGACAACAGCCTGTGTGTGGGGTACACGGACCACGTGGTGGTCAAAGCCAGCAGTGGGCAGCCAGACTCGGGCAGGGAGCTTATGGTTGAGCAGGGAGAGCTCTGAGATCAGCCTCTGTGTTTTCTGCTCTTTGGTGGGGAGCGTGGCCAGCCGCTTGCCGATCGCCATCAGGGACTTGATGAATTCTCTCTCAGGAGCCAGTCGAACAGGCTACAGGGGTTTGGGGTAAGACAAAAGATGGTGAAGAAACCATAGAATACAATGGCACACCCACTCAGTCACTCCTGGCCATGCAGGCCGGGGACCCCACTATCTGGAGAACTCCAGGAAAGCAGCTGCTTTTTAGTCTTAGTAGGAGCTTCCACCCACCCTTCACAACTTGAATTGAGAATAGCCAGCACATTCCTTCCCTATAGGCTATCCCTTGAGGGTAAGGGAGGCCATGAGTCCAGGTAACTGGGATGCACTCCTCTTCTCCTGGACTTGGGTTCCTTAAGGACTGTACCAAGGCTTCAGAGTGAGCAGGGGGACATCTGGATAGGTTAGCCAGGGCCACAGAGAGAAGAGCTGCTTACACCTGAATTGTTTCACCCTTTTCAAGAACAGGGTTGTCCTTCTCCCCATCTGGATCCTTGGGCTAGATCTCTGCCGAGGGG
Task1_train_1551
This variant affects the gene PI4KB (phosphatidylinositol 4-kinase beta) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Hearing loss, autosomal dominant 87
CCATTATTAAACTATCCTAACAAAATTCCAAATTTCCAGAGAGCAGGCTCTATAGTCTCCCTCCCTCTTCCTTTTCTCTAGTCACTCTGACTTCCCTCTATTTGAAAGAAGTCCCATTGTATCAAAAACGTGGGTGGGTTATATGCCCCACAGAGGCAGATGCCAAGACCATAGCTATCCGCATTTTTCAAAAAGTGCAAATTCCTCCTTTTTTTCTCCCTCTTTTCTAGGCTGGGTTGGAAGCCAGGATGGGAGCCTGGCCAATGGTGAGTCAGAGGGGAGGACTGGAGCACCATTGTCTGGCTGGGACACCAGGTCACTGACACTTGGTAGTCCACTGGGCAGCTTTCCCTGCTATCTGTCCAGATGTGGAGTGAAGAGTGGGTATAACCTATTCATGTGGCCACCTCTTCCCTGCTCTATATCCTAAGTTATACCTCCAACTGCTGCTGTAGCTTCCTCTTCTTCCCAGCCTCCAGGTCCTTGACTAGGCACTATATTTACTCTATACTAAGAGTGCTTTCTCTTCCCTTTGTGCTTCTCCCAAATGGTATGGGAAAGATACCAGCAAGGCACTCTTCCCCCTAAGGAAAGGCAGGCAATGAAGGCATTCTCCAGATGCCTCAGTGATAAGAAATAAACCTTACACTTATGTCAACAAAAGGTAGGATCTTCAGAGGGTAGTGAAAAGGGATTAGATTATGAGGAGGAGTGGCCAGGAGAATGAAGCCGATGTTCTAACATCTCCCCTACCCCAGCACACAGAAAGACAATAGTACCTTTTCCTTTCCCACAGATGCTGCTCTGAGAGGCTCTGGTAGCTATCTCAAGTCTCAGGTCAGGGTGTGGAGGGCTTCTGCCACAGTTCTCATTAACATAGTAGATGTTAATGGAATGGCAGTTTATTTATTTATTTATTTATTTAGAGACGGAGTCTCACTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCGATCTCTGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCTGGCCAGTGCAGTTTAATAAAAATGATTTGGGACACAGTCAGGAGCGTCAGCCTTGCCATGACCTATATGACCTGAGGCAACTCACTTTATCTCTCTGGGTCTGAGTTCTTCCTTTGTAAACTAAGGCAGGCAAAATACATGAATTCTAAGGCCTTTCCATTCTAACATTCCATGCTTTTATCAGTGAAATGAAACAGGGAGGACAGAAAGAACAGCGTAACCCTGTGTGTATATAGGAGGCATCCTGTCTCCATGCAGCCCTCTACCACCTTTTGTCTCTGGCCCTCCCCAGAATTTTACCTCATCCTCATTCTCCACTTTAGGGTTGCTGGCTGTTCGTTTCAGGTTGCTGCTGAGACTTATGCTGGCAGTGGCATCTGACTTAGAGCGCTGGTGAGTCCTTTTGGAGGGAGACAGCCCTGTGTCAGGGGCCGGGCTCAAGGAGGGCAGCTCCCTCTTCCTGTGAGCTGGCTTTAGCTCATCTGAGAGGATCAGCTTCCGTAGCTTGGTCCCACGGGAGTGTCGTTGAGTGGAAATGTGCATGTCTGAAGAATAGGCCCCAAGCAACAGGGCACACTGGAGGGAAAAGTTAATGCTCTGGCGGCAACGGTGGACTATGTAGGGCTTAATGGCATCACCCACGTCCTCATCCATGTGGATGTACATGTTAAGCAACTGGGGCAGATAGAAGTCCACGTCCTCGTTGCGAAAGCAGAAGAGCCGGTTGCCAATGTAGGCTTGTACTCCAGGCTCCTTGGAGTTATACAGGTATGAAATGGCCATGGAGATGTCAAACAGTTTTGACTCAAACAGCCTCAGCAGCCAAGACTGTTTAGCTGAGTTGTTCTGCCGCCGTCTTCTTGCTCCTTTGGCTGTGCCTGAGGCCACAGCGGCCCCCATCTCATCTTCCTCCTCCCTGATCTGGGCAGGTGGATCATCTAGGCAACGGATCTCACTGTCCACACCATCCCCATTGACCAACTCCAGTGGGGTGCCTCTGCTAGAGACTGCCACGCCTCCATGCAAAAGCTTGACTTTCTCCAACACCTCCTGGCAGGCCTTCTGGGCCACCTCAGGGTCAATCACTGATAGTTCCCCGACCCCCTCCGTGATGACACTTAGCAGGGACCCCCCATTATTCCCTGGTGGGCCAGAAGTGGGCTCAGAAGTTGGCTTCAAGGGGGCAGGCTCCACTACTGTATCTCCCATGGCCACAGCCAGACTTCGAGCTTCCAAGCTACAGGAAGAGGGAGGGAGAAAAGAACAGAAAGGGAGACACATACACACATTGGTTAGTGGTGCCATCCTCAGATCTTCCCTTTGCTATGACACCTTCCCAGGCACCTCCTCTTTTTGTCTTCCTGGACTCCTTCAAAATCAGATAAGAAGACATATCCTAGGAAGCTTTCCTGACTACCTCCACTTCTGATTACATTACTCGTCATTCCTCCTGTAGTTACTCAGCTTAGCCTCTGTTCTTAGCTTATATATGTGAAATGTTGTTTTGTATATGTTGTATTTATATAGATTTACAAATTCTTTTTGTTGTTGTTGTTGTTGTTGTTGTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGTAAGTTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCACCACAACGTCCAGCTAATTTTGTTTTGTATTTTTAGTAGACACACGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCCAACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCTACATTTACAAATTCTTTTTTTTTTTTTTTTTTGAGACAAGGTCTTGCTCTGTTACCCAGGCTGAAGTGCAGTTGAACAATCTGGGCTCATTGCAACCTTGACCTCCTGGGCTCAAGCAAGCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGCACACCACCATGCCTGGCTTATTTTTAAATTTTTAATCTTATTATTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCAGAACTCACTGTAGCCTTGATTTTCTGGGCTCAAGCAATCCTCCTACCTCAGCTTCCCAAGTATCCAGGACTACACGCATGTGCCTCCATGCCTGGTTAATTTTTTAAATTTTTCTGTAGAGACAAGGTCTCACCATGTTGCCCAGCCTGGTCTTGAACTGAGCTCAAGCAATCCTCCCTCCTCAGCCTCGTAAAGTGTTGGAATTACAGGCATGAGCCACCATGCCTGGTGATTTACAGATTCTTCGGGTAGACTGAGAAGCAAGTCAGGTGTTACTCCCTTGTTCCCTAACTCTTCAAATACTTTTCTATCCACTTGCTCTTCCTGTCTCCCTTTAAATGCCTGCTATAACCTTTTTATTTTCCACTTTAGACTATATTTCCTTACTCATATAACATTCTACACACAGGTCCTGTGCATCTCACCTTTATTTTTATTTTTTAGAGACAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTGTAACCTTGAACTCCTAGGCTCAAGGCATCCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTTTAGGTGTGTGCCATCATGCTCAGCTAATTAAAAAAAAATTTTTTTGTGCAGATGGCGTCTTGCTGTGTTGCCCAGGCTAGCTTTGAACGCCTGGCCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAAGCACTAGGATTACAGGTGTGAACCACCTTGCCCAGCCATCTTTATTTAATATTAAAGTCTTGGCTAGGCGCAGTGGCTCACGCCTGTAATCC
CCATTATTAAACTATCCTAACAAAATTCCAAATTTCCAGAGAGCAGGCTCTATAGTCTCCCTCCCTCTTCCTTTTCTCTAGTCACTCTGACTTCCCTCTATTTGAAAGAAGTCCCATTGTATCAAAAACGTGGGTGGGTTATATGCCCCACAGAGGCAGATGCCAAGACCATAGCTATCCGCATTTTTCAAAAAGTGCAAATTCCTCCTTTTTTTCTCCCTCTTTTCTAGGCTGGGTTGGAAGCCAGGATGGGAGCCTGGCCAATGGTGAGTCAGAGGGGAGGACTGGAGCACCATTGTCTGGCTGGGACACCAGGTCACTGACACTTGGTAGTCCACTGGGCAGCTTTCCCTGCTATCTGTCCAGATGTGGAGTGAAGAGTGGGTATAACCTATTCATGTGGCCACCTCTTCCCTGCTCTATATCCTAAGTTATACCTCCAACTGCTGCTGTAGCTTCCTCTTCTTCCCAGCCTCCAGGTCCTTGACTAGGCACTATATTTACTCTATACTAAGAGTGCTTTCTCTTCCCTTTGTGCTTCTCCCAAATGGTATGGGAAAGATACCAGCAAGGCACTCTTCCCCCTAAGGAAAGGCAGGCAATGAAGGCATTCTCCAGATGCCTCAGTGATAAGAAATAAACCTTACACTTATGTCAACAAAAGGTAGGATCTTCAGAGGGTAGTGAAAAGGGATTAGATTATGAGGAGGAGTGGCCAGGAGAATGAAGCCGATGTTCTAACATCTCCCCTACCCCAGCACACAGAAAGACAATAGTACCTTTTCCTTTCCCACAGATGCTGCTCTGAGAGGCTCTGGTAGCTATCTCAAGTCTCAGGTCAGGGTGTGGAGGGCTTCTGCCACAGTTCTCATTAACATAGTAGATGTTAATGGAATGGCAGTTTATTTATTTATTTATTTATTTAGAGACGGAGTCTCACTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCGATCTCTGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCTGGCCAGTGCAGTTTAATAAAAATGATTTGGGACACAGTCAGGAGCGTCAGCCTTGCCATGACCTATATGACCTGAGGCAACTCACTTTATCTCTCTGGGTCTGAGTTCTTCCTTTGTAAACTAAGGCAGGCAAAATACATGAATTCTAAGGCCTTTCCATTCTAACATTCCATGCTTTTATCAGTGAAATGAAACAGGGAGGACAGAAAGAACAGCGTAACCCTGTGTGTATATAGGAGGCATCCTGTCTCCATGCAGCCCTCTACCACCTTTTGTCTCTGGCCCTCCCCAGAATTTTACCTCATCCTCATTCTCCACTTTAGGGTTGCTGGCTGTTCGTTTCAGGTTGCTGCTGAGACTTATGCTGGCAGTGGCATCTGACTTAGAGCGCTGGTGAGTCCTTTTGGAGGGAGACAGCCCTGTGTCAGGGGCCGGGCTCAAGGAGGGCAGCTCCCTCTTCCTGTGAGCTGGCTTTAGCTCATCTGAGAGGATCAGCTTCCGTAGCTTGGTCCCACGGGAGTGTCGTTGAGTGGAAATGTGCATGTCTGAAGAATAGGCCCCAAGCAACAGGGCACACTGGAGGGAAAAGTTAATGCTCTGGCGGCAACGGTGGACTATGTAGGGCTTAATGGCATCACCCACGTCCTCATCCATGTGGATGTACATGTTAAGCAACTGGGGCAGATAGAAGTCCACGTCCTCGTTGCGAAAGCAGAAGAGCCGGTTGCCAATGTAGGCTTGTACTCCAGGCTCCTTGGAGTTATACAGGTATGAAATGGCCATGGAGATGTCAAACAGTTTTGACTCAAACAGCCTCAGCAGCCAAGACTGTTTAGCTGAGTTGTTCCGCCGCCGTCTTCTTGCTCCTTTGGCTGTGCCTGAGGCCACAGCGGCCCCCATCTCATCTTCCTCCTCCCTGATCTGGGCAGGTGGATCATCTAGGCAACGGATCTCACTGTCCACACCATCCCCATTGACCAACTCCAGTGGGGTGCCTCTGCTAGAGACTGCCACGCCTCCATGCAAAAGCTTGACTTTCTCCAACACCTCCTGGCAGGCCTTCTGGGCCACCTCAGGGTCAATCACTGATAGTTCCCCGACCCCCTCCGTGATGACACTTAGCAGGGACCCCCCATTATTCCCTGGTGGGCCAGAAGTGGGCTCAGAAGTTGGCTTCAAGGGGGCAGGCTCCACTACTGTATCTCCCATGGCCACAGCCAGACTTCGAGCTTCCAAGCTACAGGAAGAGGGAGGGAGAAAAGAACAGAAAGGGAGACACATACACACATTGGTTAGTGGTGCCATCCTCAGATCTTCCCTTTGCTATGACACCTTCCCAGGCACCTCCTCTTTTTGTCTTCCTGGACTCCTTCAAAATCAGATAAGAAGACATATCCTAGGAAGCTTTCCTGACTACCTCCACTTCTGATTACATTACTCGTCATTCCTCCTGTAGTTACTCAGCTTAGCCTCTGTTCTTAGCTTATATATGTGAAATGTTGTTTTGTATATGTTGTATTTATATAGATTTACAAATTCTTTTTGTTGTTGTTGTTGTTGTTGTTGTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGTAAGTTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCACCACAACGTCCAGCTAATTTTGTTTTGTATTTTTAGTAGACACACGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCCAACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCTACATTTACAAATTCTTTTTTTTTTTTTTTTTTGAGACAAGGTCTTGCTCTGTTACCCAGGCTGAAGTGCAGTTGAACAATCTGGGCTCATTGCAACCTTGACCTCCTGGGCTCAAGCAAGCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGCACACCACCATGCCTGGCTTATTTTTAAATTTTTAATCTTATTATTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCAGAACTCACTGTAGCCTTGATTTTCTGGGCTCAAGCAATCCTCCTACCTCAGCTTCCCAAGTATCCAGGACTACACGCATGTGCCTCCATGCCTGGTTAATTTTTTAAATTTTTCTGTAGAGACAAGGTCTCACCATGTTGCCCAGCCTGGTCTTGAACTGAGCTCAAGCAATCCTCCCTCCTCAGCCTCGTAAAGTGTTGGAATTACAGGCATGAGCCACCATGCCTGGTGATTTACAGATTCTTCGGGTAGACTGAGAAGCAAGTCAGGTGTTACTCCCTTGTTCCCTAACTCTTCAAATACTTTTCTATCCACTTGCTCTTCCTGTCTCCCTTTAAATGCCTGCTATAACCTTTTTATTTTCCACTTTAGACTATATTTCCTTACTCATATAACATTCTACACACAGGTCCTGTGCATCTCACCTTTATTTTTATTTTTTAGAGACAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTGTAACCTTGAACTCCTAGGCTCAAGGCATCCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTTTAGGTGTGTGCCATCATGCTCAGCTAATTAAAAAAAAATTTTTTTGTGCAGATGGCGTCTTGCTGTGTTGCCCAGGCTAGCTTTGAACGCCTGGCCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAAGCACTAGGATTACAGGTGTGAACCACCTTGCCCAGCCATCTTTATTTAATATTAAAGTCTTGGCTAGGCGCAGTGGCTCACGCCTGTAATCC
Task1_train_1552
Given a variant located on Chromosome 1 and affecting POGZ (pogo transposable element derived with ZNF domain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
GCTTACAGGATGAAGACTCAAACTGGGAATGGCTTCCACCCTAAAACTGTTTGATCGCTTCAGTATCTCTTGCTTGCTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGA
GCTTACAGGATGAAGACTCAAACTGGGAATGGCTTCCACCCTAAAACTGTTTGATCGCTTCAGTATCTCTTGCTTGCTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTTGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGA
Task1_train_1553
Given this variant in gene POGZ (pogo transposable element derived with ZNF domain) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
CCTACCCTGGGTCCTCCCTTTTTATAAATAAACTTCTTTAAATACATCGTCTTCATTTCCTTACCTCTCATTCATTTGTTCTGCTGAAATGTGACTTCCACCCTACCAACCAACAAAATGGCTCTCATCAATGTTGCTAAATTAAAGGCCTGTTTCTAAGTCTCTATGTTGCTTGACACCTTCCTGTAACATATGACATTTTGATCACACCCTTTTCTTTAAAACACTTTCTTCTCCCCAGTTTCCTTAAGGTTAAGACTCTTCTGGTTTTCCTCCTAGTACTATGGTGGTTGCTTTATAGATAAGGGACTTCAAATATCCTAAGCCTTCTCTTATTCTCAACAGGGTTGGGGGGCCCATGGTATTTAAGTTTAAAATCTATAGGATTTATATAACGCTGATTCCTAAATCTTTTCTACAACCCAGAGTTCTCTCACAGGCTTGAGATCTATTATCCAACAGCTACACTTGACATCCACAGATACTGCTAACTTACAATATCCAAGCTCATGATCTCCCCCCTCACAAATATACTTTCTCTATTGTTTCTATTTCAGCAAATAGTTCCCTCATTCACCCAACTGCCCAAGACAGAATCTTAGGCACTATTCTTAACTACTGCATTGCTACCTTCACCTAATCCATCTCTACATCATAAATATCACAAATCTTCTGAATATCTCTCAACTCTACCCTCTTTTTATTTCAAAAGCCAATAGCCACTATCATCTCTCACCTAAACTACTGAAAAAGGCCTTCTAGCTAGTTTCCCTAACTGTAGTCTCAATCTCCTTTAATCCATTCTCTGCAGTGCAGGCAGTATAAAGCCTTAACTAAAGCTGAACACATCACTCCAGGGCTTAAAACCCCTTTAGTGGCTTCCCAGTGAATTCTTTTCATGGCTTAAAAGATCCTCCATGATCTGTCCCTGCCTAACTTCCAACCCCTCTGTCTCTTACACCCTACACTGAATCTCTCTCAATTTCTTGAACCTCCACAATTTTGCTTTGTGCCTTGGGCACACTGTTCTTCGTCTTATTTCATCTGGCTCATTCTTATTCATCCCTCAGGTATTGAACAACACTTCTTTCTGGAAGCCTTACTAGGCACCCAGAATAGCTATGTGATTTTCTATATCCTATAATTTCCCCAACACAGTACTCTTCATGTTTTATTGTATTGTTTGCCTTGTTTACTACTAAATCTCTAGCATCTAGACTAGTACATGGCACATTAAGTGAATTCAATAAATTTCTGCAAACATATGCATATTATAATCTCTGCCCAAATTATTTGCCTAGCTCAGCCCTGGCCCCAGCATCCATGTTTAAAAAAAAAAAAAACAAGAGAATATGGGAATTGCTTGGTGCCTAGTACCTGGTGCCTCATGTAATGCTGTTGGAATGCATTGCCATTTTTGAAGACCTTCAGGCAATAAGGGCAGAGCAGATGCCGGGTATCCTCATGGATCATCCGAAAATGGACATCTACCTCAGAGTAGAGTGAGGAGCGATATTGACACACCTGAGTCACATAGGAGGGAAAATAAGGCTAAGAATGAAGTGAACAACTGAGAGGCCTTAAAAAAAAAGGTAGCAACAAAAATTTTTAAATTAAAAAAAAAAAGTTTTCTCAAATGCATAGAAATCAAATTATTTTCCTGACTTTGTAATGCTGGGCTATGTTTGTGATAGGTTTAGCTATTACTTTAAAAATAGGAAGGGACAGAAAGTCTAAGAATAATCCATGTTCTCTAACTAAGAAAAATAAAGCCTTTTCTGTCAATTTCCAAAGGGCACGTTCAGGAGACAGACACTCCCTTAGAATATGCACATGTTCCCGGCTAGTCTACTTGTGGACATGTTCTTTTATGTTTTTCTCCTGCATGGAAACCCTGAAGATAAACTGTGTTTACTATTTCTTCTGTACCTACTCAGAGTTCCTAAACTGAGTGTATGCAGTAGGTGGTCAACAATATTCATTAGTAAATTCTTTGTATTCTTCCTGAGGGCAAAACTGCTAAAACTCCCTGGAGAAAAAGGCAATACCTGGCAAACATAAGGCATCTCTCCAGGCTTATGAGTATCCTTCATATGCTGGAGAAATAGTGGCTCACTTTCAAACGCCCATTCACAGATCTTGCACTTGGCTGTAAGAAGAAAAGTAATCAATAAATCCACTTGAAAATAAGACAAAAGTCCTGCTGACTCACAATCTTTATTTTCTCTGCCTCCTTTATTTTGATTTTCAACAATCAGTAAATCATAGGTCCCTTCTGTTCTTTCTTTAAATGGCTCCACCTTAACATATATGTTGCTGATAATCTTATGTACGTAGCTCAGACTTCTTACCAAAGCTTCATTCTAGATTTTATCTATAAGACATTTTAAATTGGTTATTCTATCGTCAACTCTAACCTAATTCAGCATCCTCCTGTCTTACCACTGTTTCCCTTTTTCCTTTCCCCATTTCTTCCTGAGCTCAAAATTTAGGCACTATCTCGGATTCCAAACCCTGCATTCTGTCACCATTATTTCAAACTGCATGTAGGAACTGTCACTTCTCTATACTTATAATAAGGCAAAAACTTGGTACTAGCCCATATGATTTCCCACTGCTAATCAGCTGGCCTCCAATACCTCCTACTCTCTTTGAAATTGTCCATTTTGTCAAGCTTATGAGAAAAAATTTTGACAAAATTTTATGACACAAATGAACAATTTTGTCAAACTTCTGAGACAATTTTTGGTAATTTCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTACCTGTCCCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCTGGGCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGAATCTCACTGTTGCTCAGGCTGGAGCATGATCATAGCTCACCGCAGCCTCCTGAGTAGCTAGGACTATCCTTTGAGCTCAAGCGAGCCTCCTGTTTCAGCCTCCCAAGTAGCTAGGACTACAGTGGTGCACCACCATGCCCAAGTAATTAAAAAAAATTTTTTTTTGTAGGGACAGGGTCTCGCCATGTTGCCCAGGCTGGTCGGAAACTCCTGGCCTCAAGCAATCCTTTTGTCAATCCACTTCAGTCTCCCAAAGTGCTAGAATTACAGGTGTGAGCCAGTGCACCGGCCAATTTTGGTAAGACTTTTAACTGCTACATATTTTTAATTATACAGTATGGCAAAAAGAGAGAGATTATTTACATTTTTGTCACTTTAATGGAATTAGTTTCAAGTTTTTGCAAATATGAAAACTGGAAGCTTAAAGCCTTGGGCATTTACTGGACAATGTCTAACCTCCCCCCGCCCCCAGCCCCCTACACCCCAGCCAAAGAAATATGAATAAAGTTGAAATAATTCTTTTTTCTTTTTTTAACTACCGAGAACCCTGGATTTTTGTTTTGAGACAGAGTCTCGTTCTGTCTCGCACGCTAGAGCGCAGTGGCTCAATCATGGCTCACTGCAACCCTGACCTCCCAAGCTCAAGCAATCCTCCCATCTCAGCCTCCCAAAGTACCAGAATTACAGGTATGAGCCACTGTGCCTAGCCAAGTAATTTTTTAAAGTAAAACAAACAAACAAAAGCCAGGGGTTCTTAATCTGGGGTCTATGGAACAGGCCTCTAGGAATCCAGGCTTTCTCTGAAATTATTTGCAAAAGAGTAAAATGTAGATTTTTCTAGGAAGAGGATTCAAACATTTCATATTTATTCTCAAAGAGGTCTGCAACTCCATTTAGAAACACTGTCTACAGGTACATTAGGTGCTATGAGGACATGGATAAATAAGAAATTCTGCATAAAGGAATGAGGAAAAGCTATAACAACATATAAAAGCTGAATTGTCAAAGAATGGGGCTCAGCCAGCCAGAGAGAGGACCAAGAGAAAAGCAGGAGGAAAGGCAAGTAGGTATGAAAGTTAACCACATGTTTGGGAAACAGTTAACTAGCAACATAACGATATTATCTCTTTTCCACTCACCCCCCGATTTGTTTACCTCTCTCATTTTTCTCTTCTAGAACACCTTTAAGCAATATTTTGTCCAGGCCT
CCTACCCTGGGTCCTCCCTTTTTATAAATAAACTTCTTTAAATACATCGTCTTCATTTCCTTACCTCTCATTCATTTGTTCTGCTGAAATGTGACTTCCACCCTACCAACCAACAAAATGGCTCTCATCAATGTTGCTAAATTAAAGGCCTGTTTCTAAGTCTCTATGTTGCTTGACACCTTCCTGTAACATATGACATTTTGATCACACCCTTTTCTTTAAAACACTTTCTTCTCCCCAGTTTCCTTAAGGTTAAGACTCTTCTGGTTTTCCTCCTAGTACTATGGTGGTTGCTTTATAGATAAGGGACTTCAAATATCCTAAGCCTTCTCTTATTCTCAACAGGGTTGGGGGGCCCATGGTATTTAAGTTTAAAATCTATAGGATTTATATAACGCTGATTCCTAAATCTTTTCTACAACCCAGAGTTCTCTCACAGGCTTGAGATCTATTATCCAACAGCTACACTTGACATCCACAGATACTGCTAACTTACAATATCCAAGCTCATGATCTCCCCCCTCACAAATATACTTTCTCTATTGTTTCTATTTCAGCAAATAGTTCCCTCATTCACCCAACTGCCCAAGACAGAATCTTAGGCACTATTCTTAACTACTGCATTGCTACCTTCACCTAATCCATCTCTACATCATAAATATCACAAATCTTCTGAATATCTCTCAACTCTACCCTCTTTTTATTTCAAAAGCCAATAGCCACTATCATCTCTCACCTAAACTACTGAAAAAGGCCTTCTAGCTAGTTTCCCTAACTGTAGTCTCAATCTCCTTTAATCCATTCTCTGCAGTGCAGGCAGTATAAAGCCTTAACTAAAGCTGAACACATCACTCCAGGGCTTAAAACCCCTTTAGTGGCTTCCCAGTGAATTCTTTTCATGGCTTAAAAGATCCTCCATGATCTGTCCCTGCCTAACTTCCAACCCCTCTGTCTCTTACACCCTACACTGAATCTCTCTCAATTTCTTGAACCTCCACAATTTTGCTTTGTGCCTTGGGCACACTGTTCTTCGTCTTATTTCATCTGGCTCATTCTTATTCATCCCTCAGGTATTGAACAACACTTCTTTCTGGAAGCCTTACTAGGCACCCAGAATAGCTATGTGATTTTCTATATCCTATAATTTCCCCAACACAGTACTCTTCATGTTTTATTGTATTGTTTGCCTTGTTTACTACTAAATCTCTAGCATCTAGACTAGTACATGGCACATTAAGTGAATTCAATAAATTTCTGCAAACATATGCATATTATAATCTCTGCCCAAATTATTTGCCTAGCTCAGCCCTGGCCCCAGCATCCATGTTTAAAAAAAAAAAAAACAAGAGAATATGGGAATTGCTTGGTGCCTAGTACCTGGTGCCTCATGTAATGCTGTTGGAATGCATTGCCATTTTTGAAGACCTTCAGGCAATAAGGGCAGAGCAGATGCCGGGTATCCTCATGGATCATCCGAAAATGGACATCTACCTCAGAGTAGAGTGAGGAGCGATATTGACACACCTGAGTCACATAGGAGGGAAAATAAGGCTAAGAATGAAGTGAACAACTGAGAGGCCTTAAAAAAAAAGGTAGCAACAAAAATTTTTAAATTAAAAAAAAAAAGTTTTCTCAAATGCATAGAAATCAAATTATTTTCCTGACTTTGTAATGCTGGGCTATGTTTGTGATAGGTTTAGCTATTACTTTAAAAATAGGAAGGGACAGAAAGTCTAAGAATAATCCATGTTCTCTAACTAAGAAAAATAAAGCCTTTTCTGTCAATTTCCAAAGGGCACGTTCAGGAGACAGACACTCCCTTAGAATATGCACATGTTCCCGGCTAGTCTACTTGTGGACATGTTCTTTTATGTTTTTCTCCTGCATGGAAACCCTGAAGATAAACTGTGTTTACTATTTCTTCTGTACCTACTCAGAGTTCCTAAACTGAGTGTATGCAGTAGGTGGTCAACAATATTCATTAGTAAATTCTTTGTATTCTTCCTGAGGGCAAAACTGCTAAAACTCCCTGGAGAAAAAGGCAATACGTGGCAAACATAAGGCATCTCTCCAGGCTTATGAGTATCCTTCATATGCTGGAGAAATAGTGGCTCACTTTCAAACGCCCATTCACAGATCTTGCACTTGGCTGTAAGAAGAAAAGTAATCAATAAATCCACTTGAAAATAAGACAAAAGTCCTGCTGACTCACAATCTTTATTTTCTCTGCCTCCTTTATTTTGATTTTCAACAATCAGTAAATCATAGGTCCCTTCTGTTCTTTCTTTAAATGGCTCCACCTTAACATATATGTTGCTGATAATCTTATGTACGTAGCTCAGACTTCTTACCAAAGCTTCATTCTAGATTTTATCTATAAGACATTTTAAATTGGTTATTCTATCGTCAACTCTAACCTAATTCAGCATCCTCCTGTCTTACCACTGTTTCCCTTTTTCCTTTCCCCATTTCTTCCTGAGCTCAAAATTTAGGCACTATCTCGGATTCCAAACCCTGCATTCTGTCACCATTATTTCAAACTGCATGTAGGAACTGTCACTTCTCTATACTTATAATAAGGCAAAAACTTGGTACTAGCCCATATGATTTCCCACTGCTAATCAGCTGGCCTCCAATACCTCCTACTCTCTTTGAAATTGTCCATTTTGTCAAGCTTATGAGAAAAAATTTTGACAAAATTTTATGACACAAATGAACAATTTTGTCAAACTTCTGAGACAATTTTTGGTAATTTCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTACCTGTCCCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCTGGGCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGAATCTCACTGTTGCTCAGGCTGGAGCATGATCATAGCTCACCGCAGCCTCCTGAGTAGCTAGGACTATCCTTTGAGCTCAAGCGAGCCTCCTGTTTCAGCCTCCCAAGTAGCTAGGACTACAGTGGTGCACCACCATGCCCAAGTAATTAAAAAAAATTTTTTTTTGTAGGGACAGGGTCTCGCCATGTTGCCCAGGCTGGTCGGAAACTCCTGGCCTCAAGCAATCCTTTTGTCAATCCACTTCAGTCTCCCAAAGTGCTAGAATTACAGGTGTGAGCCAGTGCACCGGCCAATTTTGGTAAGACTTTTAACTGCTACATATTTTTAATTATACAGTATGGCAAAAAGAGAGAGATTATTTACATTTTTGTCACTTTAATGGAATTAGTTTCAAGTTTTTGCAAATATGAAAACTGGAAGCTTAAAGCCTTGGGCATTTACTGGACAATGTCTAACCTCCCCCCGCCCCCAGCCCCCTACACCCCAGCCAAAGAAATATGAATAAAGTTGAAATAATTCTTTTTTCTTTTTTTAACTACCGAGAACCCTGGATTTTTGTTTTGAGACAGAGTCTCGTTCTGTCTCGCACGCTAGAGCGCAGTGGCTCAATCATGGCTCACTGCAACCCTGACCTCCCAAGCTCAAGCAATCCTCCCATCTCAGCCTCCCAAAGTACCAGAATTACAGGTATGAGCCACTGTGCCTAGCCAAGTAATTTTTTAAAGTAAAACAAACAAACAAAAGCCAGGGGTTCTTAATCTGGGGTCTATGGAACAGGCCTCTAGGAATCCAGGCTTTCTCTGAAATTATTTGCAAAAGAGTAAAATGTAGATTTTTCTAGGAAGAGGATTCAAACATTTCATATTTATTCTCAAAGAGGTCTGCAACTCCATTTAGAAACACTGTCTACAGGTACATTAGGTGCTATGAGGACATGGATAAATAAGAAATTCTGCATAAAGGAATGAGGAAAAGCTATAACAACATATAAAAGCTGAATTGTCAAAGAATGGGGCTCAGCCAGCCAGAGAGAGGACCAAGAGAAAAGCAGGAGGAAAGGCAAGTAGGTATGAAAGTTAACCACATGTTTGGGAAACAGTTAACTAGCAACATAACGATATTATCTCTTTTCCACTCACCCCCCGATTTGTTTACCTCTCTCATTTTTCTCTTCTAGAACACCTTTAAGCAATATTTTGTCCAGGCCT
Task1_train_1554
This variant impacts the gene RORC (RAR related orphan receptor C) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
Pathogenic; Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
TTTCAGGAGGCCAGGGGGACAGGCAGAAGCCTCAGGCAGGTCAGGCGAGGAGCCCAGGGGCAGCTGCCCGTCTGGGAGCCCCAAGGTGTAGGTGAGGGTATCTGCTCCTTGGGCCCCTGCTGGAGGGGTCTTGACCACTGGTTCCTGTTGCTGCTGTTGCCGCTGCTGCAGCTGTTTCTGCACTTCTGCATGCAGGCTGTCCCTCTGCTTCTTGGACATGCGGCCGAACTTGACAGCTGAAAGAGGTCCAGGGACCAGGGGTTTATGAGGCAGGAGAACATGGCACAGGGCAGGGTCAGGAGGCATTTGGTCATTAAAGGATTAACTTGCTGCTCTCTGAATGGCTGACTCCAAGCACAGCTTCTCTAGCCTTTAGGGAACTTATGCTCAAGACCCCGTCCACCTCTCACTCTTGTTTGCTTCTGGGGTCTGTCCAGTCTGCCATTTCAATCTGCTAAGCAAAATCTTCTAAGTTCTAAATCAGATTTGAATCATGGCAGAATTCAAGCAATGAGTCTAGGCTGGGGATTCTGGCCTCCAGATCTTGGGGCTGGGGGTGGTCGAGCAGAGGGCCTCAAGCTGTATTGGGGTCACCTCGCCTCTTTGGGAGGGTCGGAGGAAGAGGAGAGCTGAGAACACAGGTCTCCCTGTGGTCAGGCCTGCAGGCTCCCTGGTGACCTAGATACTCACCACAGCCCAACCCGGGCTCCGCGGCTTGTTTCTGAACATCCTCTTCTGCTCTCTCTTTCCTGCCTTTTTACTCCCCCCGCCACCCCTCCCAGGTGTAGGGGCACAGCCCCTCGCCCCGCCTGCCCCTTTGCACCCCTGCGTGCTTCCTTTTGCTTTGTTATTTTGGGCACTGAAAAGTGCTGACGGGCTCCTTCTGGCTCCTCATCACCTCATGCCCCCCCAGCTCCACCCTAGGCTCCTTCTGTGGTGGTGGAGGTGTGCAGGGAGACTGGTGAGGAGGTGGTGGGTGAGGAGGGTGGATAAGGCACCAGGAACACCAGCCCTCCCCCACGACCACCCTCTGGTTGTTCTCAGGCCAATTCTGTTTCCATTCCTGGCTATAGTCCTGTGTCCAAGTATGGGAATGGGGGATTAGAAAAGGAGATAGAGCTAGAACTACAACAACAGGGTAGCAGGGGAAGGTGCCAGAGCTGCATGGGAGCTGGGCCAGAGGGCAGCAGAGTGAGGAGAATTCGTTCCAAGTAAGAAGAGATGAAGAGGTATGGGACCTTGGAAAGAGGATGTTTGTTCTAGCAAAGCCTAAAGTTGGGGACTCCAAAGAACTTTGATGGGGGTGACCCATCCATCCCTGGAGGGGAGGAGACAAGGGGTTGTAACGGGGAGGAATGGAGAGGAGACCAGAGGATGGGCCGTCTTGCAGGTTAAGCCTTGTCTAGCTCAGCAGGCCAGGCTGCCCCTCTGGAGACACCAGGAAAACCCCAGGGGGCTGTCGACTTGGCCTCACCATCTCGGGACATGCCCAGCGCCAGGCATTTCTGCAGGCGGCAGTGCTGGCATCGGTTTCGGCTGGTGCGGTCGATGGGGCAGTTCTGCTGACGGGTGCAGGAGTAGGCCGCGTTACAGCGCTGGCTCCGGCGGAAGAAGCCCTGGGGAAAGCAGGTGGAGGGCAAGACTGCTTATCCTGGTCAGGCCCAGCTCACTCACAAAGGCCTCCAGCCCACAAGCTCTGGCAGCTTTTCTACATCCCACGACCTGTCAGTTTTCTCTCTCCTCCATCTATTTGTGTAATTGCAATTTATCCTGTAGTCATTTCCCCAGCTTAAGACAGGGCCCTGCCAGTGTTGAGGGCCCTGCAGGAAGGCGCTACTCAGGCATTTTCCTGGCTGCCCAGGAGATCATCCCTGGAGTCAGAACAAAGGCCATTAACCCCCTTGTTTATCTCTAAGGAGACACTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCTTGTGTATGCACACGCACACATGCATGCATACACATGCCTATGACTCACCTTGCACCCCTCACAGGTGATAACCCCGTAGTGGATCCCAGACGACTTGTCCCCACAGATTTTGCAAGGGATCACTTCAATTTGTGCTGGAAGAGAGAAAGAGAAGTAGGTCAGCCCAGGAGGCTTTTCTGCATTCAACCACCATGTACCTGGGCTGCAGATACAGGTACCTGGTGCTTCCACTACTTCTCCAACCAGCTCCAGCTTGCTGTTTCCCTCTTGCAAAATGGAAGGGGAAGTGAAATGCCAAATGCTTCTCAGCAAAGGGTGTGAGGAAGCTGTGTTTGTTTCACAGAGGAGGGGAGTGTGGAGGGGTGGCCGGGAGTTGTATCAGTGCTATGGAGGCAGAGAAAGCAGCTGCAGAGGGGCCACCTGCTCAGCCCTTCGAGTTGAAAAGCTCCAGTTGCCTCCCTCCCGCCTTGGGACATAGGACTCCTCACGGCCTCACAACACCTGCTTCCCGCCGAAGGGGCTTCCTCTGTGCCTCCCTCCCTCGCTGGGGCTCAGCTCCCATGGGCAAAGTGTAGGGTATAGCAGGAAGATGTGGTACACAAGGGGTGGGGGATAGGCAGAGATGCCAGTCCTTCCCAGCCAGACAGTGAAGGCTCAGGGAGGTGCTATACAGAGACAGGGTGAGGGGGTGGCAGGGAGGAACCCAGGAAACGGGGGCTCAACACCCCAGCTCTGCTGGATGCCTGAGAGCCTAGGGAAAGAATTAGCCAGGGCTCTTAGGCTCTTGGCCCCAGAGCAGAGAGAGGGTGGCTTTGTGTACATCCGTGTGTCTGAGTGTGAACACTTATGTTTGTACAAAGGCATCTGTATCCATTTGTGTGAACATGAATCATCAATGTTAAAAATGGCTGAGACTAGAGACCATCTCATTCAACCTCTTCATTTACCGATGAAGGACTAAGCCAGATGAGGCAAAGCGGTTGGGCCAGGGTCATAGGCTAGTTTGCCTGAGAGCTGGATCTACATCCCAGTTCCCCTGAGCTTTCCATTATGCTGTTCTGTGTACCTGTCTTTTCGGGTACACATTTCAGTGGGCATGTTTGAAGGTGTGCTTGTGGGTGTGCATATGCAAGAAAAGTATGTGTCATTTGTGAGCCTACGACATATCTGGTTGCTCCTGCGTCCACACGTGCATATTTGTATGTTAGTGTCTGCTCATGGGGCACTAGGACCCCGGGTTCTCTCTCCCACTGAACTCACTGTAACCTGTACCTGCTTCCCTACCCCTGTGGTTTGCTGCTGGCCCTAAGCTCATCTCTGCTTTGCCCTGTTCCTGTCAATGCCCACGACTCTCTGCTGAGCTTCATGGGACCACAGGAGGCCTTCTCCCAGCTCTTCCTTGAAAGGTAGCTGGGCAAAGCTTGGGATCCCTGGTTACTGTAGGTGTTTTTAGCATTTCCCAGAGCACATGGGTCTCTTTTCCACCATCACTGACCTGCTGCCTCCCCTCTGAGTGGGGAGCCCTGGGGCGGGACAGGCCAGAAAAGTGAAGAGAAGGGCCAAAGCCCCTTTTAATCTATGACGTGTCTCCCACCAAAGGGGCAAAAGAAGTGGCAGCCTCTCTGGAGGGCGAATGCACATTGCTGTGATCTCACCTCCAGTCCCTGGCCTGGACACTGGTCACATGTAGGGCCTGTTGATGTGAAGTGGGCAGGGAGACCATGGCTTGCCCGCCATTCCCCAAAATATTATTTCCATCATTCTTAAACCATCATCCCTCAGGCCAGACTTGAGGTGAGTCAGAGGCAGTAGCTGACCCTGACGGGGACAGGGCACATGGGTATCTGAAATCCCTTCATTAGCACTCAATTCCTCACCCAACCCCCAGCCACACGTGCCTGCCCAGCAGCAAGCTTCCAGTGCTCACACTGTAAGCTGTGGTCCCCCCAGGACCAGGCGGTAAGTGAGTTTTCCAGGTTCTTTCCAGTAAATTAAGAGCAGATTTTAATACATGGAGGGGAAGAGAGAATAAGAGGGCACTGGGTGTCTGGAACAGGGGCAGAAAACGTTGGGGCCCCCATACTTCTAGTCACTTAGATTCTCCCTCTAGACCTACGTTTTCTTGTCAGCAAGATCAGG
TTTCAGGAGGCCAGGGGGACAGGCAGAAGCCTCAGGCAGGTCAGGCGAGGAGCCCAGGGGCAGCTGCCCGTCTGGGAGCCCCAAGGTGTAGGTGAGGGTATCTGCTCCTTGGGCCCCTGCTGGAGGGGTCTTGACCACTGGTTCCTGTTGCTGCTGTTGCCGCTGCTGCAGCTGTTTCTGCACTTCTGCATGCAGGCTGTCCCTCTGCTTCTTGGACATGCGGCCGAACTTGACAGCTGAAAGAGGTCCAGGGACCAGGGGTTTATGAGGCAGGAGAACATGGCACAGGGCAGGGTCAGGAGGCATTTGGTCATTAAAGGATTAACTTGCTGCTCTCTGAATGGCTGACTCCAAGCACAGCTTCTCTAGCCTTTAGGGAACTTATGCTCAAGACCCCGTCCACCTCTCACTCTTGTTTGCTTCTGGGGTCTGTCCAGTCTGCCATTTCAATCTGCTAAGCAAAATCTTCTAAGTTCTAAATCAGATTTGAATCATGGCAGAATTCAAGCAATGAGTCTAGGCTGGGGATTCTGGCCTCCAGATCTTGGGGCTGGGGGTGGTCGAGCAGAGGGCCTCAAGCTGTATTGGGGTCACCTCGCCTCTTTGGGAGGGTCGGAGGAAGAGGAGAGCTGAGAACACAGGTCTCCCTGTGGTCAGGCCTGCAGGCTCCCTGGTGACCTAGATACTCACCACAGCCCAACCCGGGCTCCGCGGCTTGTTTCTGAACATCCTCTTCTGCTCTCTCTTTCCTGCCTTTTTACTCCCCCCGCCACCCCTCCCAGGTGTAGGGGCACAGCCCCTCGCCCCGCCTGCCCCTTTGCACCCCTGCGTGCTTCCTTTTGCTTTGTTATTTTGGGCACTGAAAAGTGCTGACGGGCTCCTTCTGGCTCCTCATCACCTCATGCCCCCCCAGCTCCACCCTAGGCTCCTTCTGTGGTGGTGGAGGTGTGCAGGGAGACTGGTGAGGAGGTGGTGGGTGAGGAGGGTGGATAAGGCACCAGGAACACCAGCCCTCCCCCACGACCACCCTCTGGTTGTTCTCAGGCCAATTCTGTTTCCATTCCTGGCTATAGTCCTGTGTCCAAGTATGGGAATGGGGGATTAGAAAAGGAGATAGAGCTAGAACTACAACAACAGGGTAGCAGGGGAAGGTGCCAGAGCTGCATGGGAGCTGGGCCAGAGGGCAGCAGAGTGAGGAGAATTCGTTCCAAGTAAGAAGAGATGAAGAGGTATGGGACCTTGGAAAGAGGATGTTTGTTCTAGCAAAGCCTAAAGTTGGGGACTCCAAAGAACTTTGATGGGGGTGACCCATCCATCCCTGGAGGGGAGGAGACAAGGGGTTGTAACGGGGAGGAATGGAGAGGAGACCAGAGGATGGGCCGTCTTGCAGGTTAAGCCTTGTCTAGCTCAGCAGGCCAGGCTGCCCCTCTGGAGACACCAGGAAAACCCCAGGGGGCTGTCGACTTGGCCTCACCATCTCGGGACATGCCCAGCGCCAGGCATTTCTGCAGGCGGCAGTGCTGGCATCGGTTTCGGCTGGTGCGGTCGATGGGGCAGTTCTGCTGACGGGTGCAGGAGTAGGCCGCGTTACAGCGCTGGCTCCGGCGGAAGAAGCCCTGGGGAAAGCAGGTGGAGGGCAAGACTGCTTATCCTGGTCAGGCCCAGCTCACTCACAAAGGCCTCCAGCCCACAAGCTCTGGCAGCTTTTCTACATCCCACGACCTGTCAGTTTTCTCTCTCCTCCATCTATTTGTGTAATTGCAATTTATCCTGTAGTCATTTCCCCAGCTTAAGACAGGGCCCTGCCAGTGTTGAGGGCCCTGCAGGAAGGCGCTACTCAGGCATTTTCCTGGCTGCCCAGGAGATCATCCCTGGAGTCAGAACAAAGGCCATTAACCCCCTTGTTTATCTCTAAGGAGACACTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCTTGTGTATGCACACGCACACATGCATGCATACACATGCCTATGACTCACCTTGCACCCCTCACAGGTGATAACCCCGTAGTGGATCCCAGACAACTTGTCCCCACAGATTTTGCAAGGGATCACTTCAATTTGTGCTGGAAGAGAGAAAGAGAAGTAGGTCAGCCCAGGAGGCTTTTCTGCATTCAACCACCATGTACCTGGGCTGCAGATACAGGTACCTGGTGCTTCCACTACTTCTCCAACCAGCTCCAGCTTGCTGTTTCCCTCTTGCAAAATGGAAGGGGAAGTGAAATGCCAAATGCTTCTCAGCAAAGGGTGTGAGGAAGCTGTGTTTGTTTCACAGAGGAGGGGAGTGTGGAGGGGTGGCCGGGAGTTGTATCAGTGCTATGGAGGCAGAGAAAGCAGCTGCAGAGGGGCCACCTGCTCAGCCCTTCGAGTTGAAAAGCTCCAGTTGCCTCCCTCCCGCCTTGGGACATAGGACTCCTCACGGCCTCACAACACCTGCTTCCCGCCGAAGGGGCTTCCTCTGTGCCTCCCTCCCTCGCTGGGGCTCAGCTCCCATGGGCAAAGTGTAGGGTATAGCAGGAAGATGTGGTACACAAGGGGTGGGGGATAGGCAGAGATGCCAGTCCTTCCCAGCCAGACAGTGAAGGCTCAGGGAGGTGCTATACAGAGACAGGGTGAGGGGGTGGCAGGGAGGAACCCAGGAAACGGGGGCTCAACACCCCAGCTCTGCTGGATGCCTGAGAGCCTAGGGAAAGAATTAGCCAGGGCTCTTAGGCTCTTGGCCCCAGAGCAGAGAGAGGGTGGCTTTGTGTACATCCGTGTGTCTGAGTGTGAACACTTATGTTTGTACAAAGGCATCTGTATCCATTTGTGTGAACATGAATCATCAATGTTAAAAATGGCTGAGACTAGAGACCATCTCATTCAACCTCTTCATTTACCGATGAAGGACTAAGCCAGATGAGGCAAAGCGGTTGGGCCAGGGTCATAGGCTAGTTTGCCTGAGAGCTGGATCTACATCCCAGTTCCCCTGAGCTTTCCATTATGCTGTTCTGTGTACCTGTCTTTTCGGGTACACATTTCAGTGGGCATGTTTGAAGGTGTGCTTGTGGGTGTGCATATGCAAGAAAAGTATGTGTCATTTGTGAGCCTACGACATATCTGGTTGCTCCTGCGTCCACACGTGCATATTTGTATGTTAGTGTCTGCTCATGGGGCACTAGGACCCCGGGTTCTCTCTCCCACTGAACTCACTGTAACCTGTACCTGCTTCCCTACCCCTGTGGTTTGCTGCTGGCCCTAAGCTCATCTCTGCTTTGCCCTGTTCCTGTCAATGCCCACGACTCTCTGCTGAGCTTCATGGGACCACAGGAGGCCTTCTCCCAGCTCTTCCTTGAAAGGTAGCTGGGCAAAGCTTGGGATCCCTGGTTACTGTAGGTGTTTTTAGCATTTCCCAGAGCACATGGGTCTCTTTTCCACCATCACTGACCTGCTGCCTCCCCTCTGAGTGGGGAGCCCTGGGGCGGGACAGGCCAGAAAAGTGAAGAGAAGGGCCAAAGCCCCTTTTAATCTATGACGTGTCTCCCACCAAAGGGGCAAAAGAAGTGGCAGCCTCTCTGGAGGGCGAATGCACATTGCTGTGATCTCACCTCCAGTCCCTGGCCTGGACACTGGTCACATGTAGGGCCTGTTGATGTGAAGTGGGCAGGGAGACCATGGCTTGCCCGCCATTCCCCAAAATATTATTTCCATCATTCTTAAACCATCATCCCTCAGGCCAGACTTGAGGTGAGTCAGAGGCAGTAGCTGACCCTGACGGGGACAGGGCACATGGGTATCTGAAATCCCTTCATTAGCACTCAATTCCTCACCCAACCCCCAGCCACACGTGCCTGCCCAGCAGCAAGCTTCCAGTGCTCACACTGTAAGCTGTGGTCCCCCCAGGACCAGGCGGTAAGTGAGTTTTCCAGGTTCTTTCCAGTAAATTAAGAGCAGATTTTAATACATGGAGGGGAAGAGAGAATAAGAGGGCACTGGGTGTCTGGAACAGGGGCAGAAAACGTTGGGGCCCCCATACTTCTAGTCACTTAGATTCTCCCTCTAGACCTACGTTTTCTTGTCAGCAAGATCAGG
Task1_train_1555
A sequence alteration has been identified in GATAD2B (GATA zinc finger domain containing 2B) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; not provided
TGGTATGGGAGAGACAAGTGAAACAGTGGTGAGAGGAAGATGAATAAGACAGAGAGATAGAATCATTAAATCAGCTTTGATTTTGAGGCTGCAGATTGTGCAGAAGCATCCCTGGATCATTCAAACAGAACAGTTAACCCTGCTGTCCCGGCCAAAAGAGATCAATAACCACATGTCTACTGAAGGGATATTAAAAGTTAAATTGATAATGGTAGGATCTGGGTCATTTTCACCACCAAAACCCTAGTGCATTGTGGGTGGCACTTAATATGAATTTAGCAAACATTTGCTGAGTAACAGAAGAGTGAGAGTGTATGCCCTAAAGAAAGAACAGAAAGTAAAGGAACAATTCCCTTAAAGGGGCTGCTACAGAACTGTATACTAACTAACAGCTGACCCATGAGAAACATTTTCAGATTAATCCTTCTTACCTGGCATACCAAGGAGGCCACCTGGCACAGACAACTGGGGTGCCTGTGCAAAGTTTGAAAGCATGGAGCGGGCAGATGTGGGTATGCCACGCTGGAGGCTGCTCTGGGGCTGTGGAGCCTGCAATGATGAGGAGACAGTGGATACAACTTTGATATGATAGAATGTTAAGCGGGGGCAAAGATAAGGGAGTACAGAAGAAGACTATGATTTCCCACAATAGAAAGGACAAATTGTGATAAATGGCTGATAAATCTTCTAAAGAAATCAGGATCAGGCAAAAAGTTCCTTACCTGCCGAAGCGTATGATGTCTCATGATGGTCTCTTGTTTACTGACACTGGACACAGCTGGAGCCGTAGTGGGGGAGAGGGCTGCCTGCTGCTGTAATCGCTGTTCAATTTCCTGTTGGGAGTCATCACATCAGGTGATTGAGCAGGACAGCACCCAATACCCAATTTCCTTTTTTTTTTTTTTTTTTAAACAGAGACACAATCTGACTTTGTTGCCCAGGCTGGTCTGGCACTCCTGGGCTCAAGCAATCCTCTCACCTTAGCCTCCCCAAAGTGCTGGGATTACAGGCATGAATCACTGCACCTGGCCCACCCAATTTCCTAACCAGAAAACCTGGAGGTGTTCTTACCTCTAATGTTGTTGGCTAGTTGGTGGAATATGGAAAAGGCAAAAGAGTTTGGTGGGGGTGGTACACTGAGATTTCTGGGTATAAGCAGCTAACTTGCTTCAATGATCAAGGGATCCTCCTCTCTTTCTCCAGGAAAGCTGGCTCTAAGAAGTTGGCTGGAGGTGATGAACCAACTGATATAATTAAGGCTGATGAATTACTGGGGTTTTATTTTATCACTTTTTCTTTTCTCTTTTTAAAAATTTTTATTTATTTATTTTTTACCACCAGTCCTAGAGCATAAATGGGGTTTTATTTTTGACTCCTGCCTACCCGATCTTCCAAAAAGTCCATGATGCTACTCAAACAAGGGACTCTGATGGGTGGAGTGGGAAATAGGAAGAAAAGGATCTGAGTTTCCCAACACATTTTTCCTTCTCTAAGATATTCTCATCCTATAACTGCTACATGAGATGTTCACATACTCTAGAACCACTACTCTTCACTGGGCTACTTCATAATTCACTCTTTCTTTCGTCATTTCTTATCAAACACGCACTGCAAATAACTGTTTCAAAGAGATTTATAGCACAAATATAAATTCCTCCCACCAAAATCTATTATTTGTTTTAGGAAAAAATGAAGATGAGAATAGAGTGCTATGGAAAAGCCAAGAGTCCCAAGCTTTCTGTCCCTTTCTGTTAACCTCAGCCATTATATTTTACCATGTTCTTAATCAGAATACTCGCTCAAATGGAAATAGGACACAATGATAAGGAGACAAAAAGGGAACCTGTGGACCTGTAGGGATCACATGAACCACTCCTGCAAACTAGAAGGCGCGACCCTTTGGAAAAAACAAACTGGGACAGGTGGCCAGTGAGCAGTCAGAATTCTTACCTGTTCCTGCTGTAGGGCTTTCACAAATGCATTTTTCAGCCGGTTGGTGTGTTCAGCTTTTAGAGCCTTTTTCTGGTTGGAGGTCATACACTGCTCACATAGAATCTTACCATTCTTTTCTTGCTTCCAGTGAGGGGTGAAATCTGTGCGGCACTGGGCACATACAAAGGGTTCAACCCGCAGAAGTGAGGCACAGCTTTTGCCTAGATACCAACAAAAATAGTCAGTGGCTTTACATTTCCTATCTCCTCTGTTTCTCTTAATCAAATAGATCTTTTCCAGGAGTTTATTCTGTTGAATTAAAGAAAGAGACTTTACAAAAAGGATATTCTATAATTTACAAAATACTTTTATTTCATCTGATTATAACAGTATCACTTTAGGGAATTCAGACAGTACCATCCTCATTTACAAATGAGGACAGAAGTCGAAGAAATGTAGCTTCTGGCTGGGTGCGGTGGCTCACCCCTACAGTCCCAGCACTTTGGGAGGCTGAGGTGGACGGCTAACGAGGTCAGGAGTTCAAGAACAGCCTGACCAACATAGTGAAAACCCGTCTTTACTAAAAATACAAAAAAATTAGGCGGGCGTGGTGGCACGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGCCGAAATTGTGCCAGTGCACTCCAGCCTGGGTAACAGAACAAGACTCAGTCTCAAACAACAACAACAACAACAAAGGTAGCTTCTAACTGATAAAGCTGGGATGTTTCCTGATTTTCTACTGTATCACACTGAGAAGAAAATACTGTGTCAATTCAAAGTCAAAGGACTCTAACTCAACCAATACTTTTGCTTCTTAATATCTCCTTACCAAAGACTGTACTTATCCCTGTCATATACATTTATAGTTTTAAATAGTTATCAGTGTCTGAATTATTCACTTTGTGATCTATTTATAGCTAATACTGACTCCTCTGGGCACTTTACTGGCAGGCTTTCCCAGAAGTCTACCTGTTTAGAAATTCAAGTTTAATAACTTCAGTTAGTCTAGACTGTATGTTGTTAATACTCTATAGTATGGTTTAGTATTGGTTTACAGCTTTTTATAAGGTCTTTCTTAGTTATCTATGTAAGTGTGTGTTTCTCAACTGTAAGCATTCACAGAAGACTAAACACAGTAATTCAGTACAATGTTGCAAAAACACTCACATTAAAAACAGAAGTTCCAGGCCAGGCATGGTGGCTCACACCTGTGATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAAT
TGGTATGGGAGAGACAAGTGAAACAGTGGTGAGAGGAAGATGAATAAGACAGAGAGATAGAATCATTAAATCAGCTTTGATTTTGAGGCTGCAGATTGTGCAGAAGCATCCCTGGATCATTCAAACAGAACAGTTAACCCTGCTGTCCCGGCCAAAAGAGATCAATAACCACATGTCTACTGAAGGGATATTAAAAGTTAAATTGATAATGGTAGGATCTGGGTCATTTTCACCACCAAAACCCTAGTGCATTGTGGGTGGCACTTAATATGAATTTAGCAAACATTTGCTGAGTAACAGAAGAGTGAGAGTGTATGCCCTAAAGAAAGAACAGAAAGTAAAGGAACAATTCCCTTAAAGGGGCTGCTACAGAACTGTATACTAACTAACAGCTGACCCATGAGAAACATTTTCAGATTAATCCTTCTTACCTGGCATACCAAGGAGGCCACCTGGCACAGACAACTGGGGTGCCTGTGCAAAGTTTGAAAGCATGGAGCGGGCAGATGTGGGTATGCCACGCTGGAGGCTGCTCTGGGGCTGTGGAGCCTGCAATGATGAGGAGACAGTGGATACAACTTTGATATGATAGAATGTTAAGCGGGGGCAAAGATAAGGGAGTACAGAAGAAGACTATGATTTCCCACAATAGAAAGGACAAATTGTGATAAATGGCTGATAAATCTTCTAAAGAAATCAGGATCAGGCAAAAAGTTCCTTACCTGCCGAAGCGTATGATGTCTCATGATGGTCTCTTGTTTACTGACACTGGACACAGCTGGAGCCGTAGTGGGGGAGAGGGCTGCCTGCTGCTGTAATCGCTGTTCAATTTCCTGTTGGGAGTCATCACATCAGGTGATTGAGCAGGACAGCACCCAATACCCAATTTCCTTTTTTTTTTTTTTTTTTAAACAGAGACACAATCTGACTTTGTTGCCCAGGCTGGTCTGGCACTCCTGGGCTCAAGCAATCCTCTCACCTTAGCCTCCCCAAAGTGCTGGGATTACAGGCATGAATCACTGCACCTGGCCCACCCAATTTCCTAACCAGAAAACCTGGAGGTGTTCTTACCTCTAATGTTGTTGGCTAGTTGGTGGAATATGGAAAAGGCAAAAGAGTTTGGTGGGGGTGGTACACTGAGATTTCTGGGTATAAGCAGCTAACTTGCTTCAATGATCAAGGGATCCTCCTCTCTTTCTCCAGGAAAGCTGGCTCTAAGAAGTTGGCTGGAGGTGATGAACCAACTGATATAATTAAGGCTGATGAATTACTGGGGTTTTATTTTATCACTTTTTCTTTTCTCTTTTTAAAAATTTTTATTTATTTATTTTTTACCACCAGTCCTAGAGCATAAATGGGGTTTTATTTTTGACTCCTGCCTACCCGATCTTCCAAAAAGTCCATGATGCTACTCAAACAAGGGACTCTGATGGGTGGAGTGGGAAATAGGAAGAAAAGGATCTGAGTTTCCCAACACATTTTTCCTTCTCTAAGATATTCTCATCCTATAACTGCTACATGAGATGTTCACATACTCTAGAACCACTACTCTTCACTGGGCTACTTCATAATTCACTCTTTCTTTCGTCATTTCTTATCAAACACGCACTGCAAATAACTGTTTCAAAGAGATTTATAGCACAAATATAAATTCCTCCCACCAAAATCTATTATTTGTTTTAGGAAAAAATGAAGATGAGAATAGAGTGCTATGGAAAAGCCAAGAGTCCCAAGCTTTCTGTCCCTTTCTGTTAACCTCAGCCATTATATTTTACCATGTTCTTAATCAGAATACTCGCTCAAATGGAAATAGGACACAATGATAAGGAGACAAAAAGGGAACCTGTGGACCTGTAGGGATCACATGAACCACTCCTGCAAACTAGAAGGCGCGACCCTTTGGAAAAAACAAACTGGGACAGGTGGCCAGTGAGCAGTCAGAATTCTTACCTGTTCCTGCTGTAGGGCTTTCACAAATGCATTTTTCAGCCGGTTGGTGTGTTCAGCTTTTAGAGCCTTTTTCTGGTTGGAGGTCATACACTGCTCACGTAGAATCTTACCATTCTTTTCTTGCTTCCAGTGAGGGGTGAAATCTGTGCGGCACTGGGCACATACAAAGGGTTCAACCCGCAGAAGTGAGGCACAGCTTTTGCCTAGATACCAACAAAAATAGTCAGTGGCTTTACATTTCCTATCTCCTCTGTTTCTCTTAATCAAATAGATCTTTTCCAGGAGTTTATTCTGTTGAATTAAAGAAAGAGACTTTACAAAAAGGATATTCTATAATTTACAAAATACTTTTATTTCATCTGATTATAACAGTATCACTTTAGGGAATTCAGACAGTACCATCCTCATTTACAAATGAGGACAGAAGTCGAAGAAATGTAGCTTCTGGCTGGGTGCGGTGGCTCACCCCTACAGTCCCAGCACTTTGGGAGGCTGAGGTGGACGGCTAACGAGGTCAGGAGTTCAAGAACAGCCTGACCAACATAGTGAAAACCCGTCTTTACTAAAAATACAAAAAAATTAGGCGGGCGTGGTGGCACGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGCCGAAATTGTGCCAGTGCACTCCAGCCTGGGTAACAGAACAAGACTCAGTCTCAAACAACAACAACAACAACAAAGGTAGCTTCTAACTGATAAAGCTGGGATGTTTCCTGATTTTCTACTGTATCACACTGAGAAGAAAATACTGTGTCAATTCAAAGTCAAAGGACTCTAACTCAACCAATACTTTTGCTTCTTAATATCTCCTTACCAAAGACTGTACTTATCCCTGTCATATACATTTATAGTTTTAAATAGTTATCAGTGTCTGAATTATTCACTTTGTGATCTATTTATAGCTAATACTGACTCCTCTGGGCACTTTACTGGCAGGCTTTCCCAGAAGTCTACCTGTTTAGAAATTCAAGTTTAATAACTTCAGTTAGTCTAGACTGTATGTTGTTAATACTCTATAGTATGGTTTAGTATTGGTTTACAGCTTTTTATAAGGTCTTTCTTAGTTATCTATGTAAGTGTGTGTTTCTCAACTGTAAGCATTCACAGAAGACTAAACACAGTAATTCAGTACAATGTTGCAAAAACACTCACATTAAAAACAGAAGTTCCAGGCCAGGCATGGTGGCTCACACCTGTGATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAAT
Task1_train_1556
A mutation in GATAD2B (GATA zinc finger domain containing 2B), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
CATTAAATCAGCTTTGATTTTGAGGCTGCAGATTGTGCAGAAGCATCCCTGGATCATTCAAACAGAACAGTTAACCCTGCTGTCCCGGCCAAAAGAGATCAATAACCACATGTCTACTGAAGGGATATTAAAAGTTAAATTGATAATGGTAGGATCTGGGTCATTTTCACCACCAAAACCCTAGTGCATTGTGGGTGGCACTTAATATGAATTTAGCAAACATTTGCTGAGTAACAGAAGAGTGAGAGTGTATGCCCTAAAGAAAGAACAGAAAGTAAAGGAACAATTCCCTTAAAGGGGCTGCTACAGAACTGTATACTAACTAACAGCTGACCCATGAGAAACATTTTCAGATTAATCCTTCTTACCTGGCATACCAAGGAGGCCACCTGGCACAGACAACTGGGGTGCCTGTGCAAAGTTTGAAAGCATGGAGCGGGCAGATGTGGGTATGCCACGCTGGAGGCTGCTCTGGGGCTGTGGAGCCTGCAATGATGAGGAGACAGTGGATACAACTTTGATATGATAGAATGTTAAGCGGGGGCAAAGATAAGGGAGTACAGAAGAAGACTATGATTTCCCACAATAGAAAGGACAAATTGTGATAAATGGCTGATAAATCTTCTAAAGAAATCAGGATCAGGCAAAAAGTTCCTTACCTGCCGAAGCGTATGATGTCTCATGATGGTCTCTTGTTTACTGACACTGGACACAGCTGGAGCCGTAGTGGGGGAGAGGGCTGCCTGCTGCTGTAATCGCTGTTCAATTTCCTGTTGGGAGTCATCACATCAGGTGATTGAGCAGGACAGCACCCAATACCCAATTTCCTTTTTTTTTTTTTTTTTTAAACAGAGACACAATCTGACTTTGTTGCCCAGGCTGGTCTGGCACTCCTGGGCTCAAGCAATCCTCTCACCTTAGCCTCCCCAAAGTGCTGGGATTACAGGCATGAATCACTGCACCTGGCCCACCCAATTTCCTAACCAGAAAACCTGGAGGTGTTCTTACCTCTAATGTTGTTGGCTAGTTGGTGGAATATGGAAAAGGCAAAAGAGTTTGGTGGGGGTGGTACACTGAGATTTCTGGGTATAAGCAGCTAACTTGCTTCAATGATCAAGGGATCCTCCTCTCTTTCTCCAGGAAAGCTGGCTCTAAGAAGTTGGCTGGAGGTGATGAACCAACTGATATAATTAAGGCTGATGAATTACTGGGGTTTTATTTTATCACTTTTTCTTTTCTCTTTTTAAAAATTTTTATTTATTTATTTTTTACCACCAGTCCTAGAGCATAAATGGGGTTTTATTTTTGACTCCTGCCTACCCGATCTTCCAAAAAGTCCATGATGCTACTCAAACAAGGGACTCTGATGGGTGGAGTGGGAAATAGGAAGAAAAGGATCTGAGTTTCCCAACACATTTTTCCTTCTCTAAGATATTCTCATCCTATAACTGCTACATGAGATGTTCACATACTCTAGAACCACTACTCTTCACTGGGCTACTTCATAATTCACTCTTTCTTTCGTCATTTCTTATCAAACACGCACTGCAAATAACTGTTTCAAAGAGATTTATAGCACAAATATAAATTCCTCCCACCAAAATCTATTATTTGTTTTAGGAAAAAATGAAGATGAGAATAGAGTGCTATGGAAAAGCCAAGAGTCCCAAGCTTTCTGTCCCTTTCTGTTAACCTCAGCCATTATATTTTACCATGTTCTTAATCAGAATACTCGCTCAAATGGAAATAGGACACAATGATAAGGAGACAAAAAGGGAACCTGTGGACCTGTAGGGATCACATGAACCACTCCTGCAAACTAGAAGGCGCGACCCTTTGGAAAAAACAAACTGGGACAGGTGGCCAGTGAGCAGTCAGAATTCTTACCTGTTCCTGCTGTAGGGCTTTCACAAATGCATTTTTCAGCCGGTTGGTGTGTTCAGCTTTTAGAGCCTTTTTCTGGTTGGAGGTCATACACTGCTCACATAGAATCTTACCATTCTTTTCTTGCTTCCAGTGAGGGGTGAAATCTGTGCGGCACTGGGCACATACAAAGGGTTCAACCCGCAGAAGTGAGGCACAGCTTTTGCCTAGATACCAACAAAAATAGTCAGTGGCTTTACATTTCCTATCTCCTCTGTTTCTCTTAATCAAATAGATCTTTTCCAGGAGTTTATTCTGTTGAATTAAAGAAAGAGACTTTACAAAAAGGATATTCTATAATTTACAAAATACTTTTATTTCATCTGATTATAACAGTATCACTTTAGGGAATTCAGACAGTACCATCCTCATTTACAAATGAGGACAGAAGTCGAAGAAATGTAGCTTCTGGCTGGGTGCGGTGGCTCACCCCTACAGTCCCAGCACTTTGGGAGGCTGAGGTGGACGGCTAACGAGGTCAGGAGTTCAAGAACAGCCTGACCAACATAGTGAAAACCCGTCTTTACTAAAAATACAAAAAAATTAGGCGGGCGTGGTGGCACGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGCCGAAATTGTGCCAGTGCACTCCAGCCTGGGTAACAGAACAAGACTCAGTCTCAAACAACAACAACAACAACAAAGGTAGCTTCTAACTGATAAAGCTGGGATGTTTCCTGATTTTCTACTGTATCACACTGAGAAGAAAATACTGTGTCAATTCAAAGTCAAAGGACTCTAACTCAACCAATACTTTTGCTTCTTAATATCTCCTTACCAAAGACTGTACTTATCCCTGTCATATACATTTATAGTTTTAAATAGTTATCAGTGTCTGAATTATTCACTTTGTGATCTATTTATAGCTAATACTGACTCCTCTGGGCACTTTACTGGCAGGCTTTCCCAGAAGTCTACCTGTTTAGAAATTCAAGTTTAATAACTTCAGTTAGTCTAGACTGTATGTTGTTAATACTCTATAGTATGGTTTAGTATTGGTTTACAGCTTTTTATAAGGTCTTTCTTAGTTATCTATGTAAGTGTGTGTTTCTCAACTGTAAGCATTCACAGAAGACTAAACACAGTAATTCAGTACAATGTTGCAAAAACACTCACATTAAAAACAGAAGTTCCAGGCCAGGCATGGTGGCTCACACCTGTGATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAATGTTGTTGACAGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTT
CATTAAATCAGCTTTGATTTTGAGGCTGCAGATTGTGCAGAAGCATCCCTGGATCATTCAAACAGAACAGTTAACCCTGCTGTCCCGGCCAAAAGAGATCAATAACCACATGTCTACTGAAGGGATATTAAAAGTTAAATTGATAATGGTAGGATCTGGGTCATTTTCACCACCAAAACCCTAGTGCATTGTGGGTGGCACTTAATATGAATTTAGCAAACATTTGCTGAGTAACAGAAGAGTGAGAGTGTATGCCCTAAAGAAAGAACAGAAAGTAAAGGAACAATTCCCTTAAAGGGGCTGCTACAGAACTGTATACTAACTAACAGCTGACCCATGAGAAACATTTTCAGATTAATCCTTCTTACCTGGCATACCAAGGAGGCCACCTGGCACAGACAACTGGGGTGCCTGTGCAAAGTTTGAAAGCATGGAGCGGGCAGATGTGGGTATGCCACGCTGGAGGCTGCTCTGGGGCTGTGGAGCCTGCAATGATGAGGAGACAGTGGATACAACTTTGATATGATAGAATGTTAAGCGGGGGCAAAGATAAGGGAGTACAGAAGAAGACTATGATTTCCCACAATAGAAAGGACAAATTGTGATAAATGGCTGATAAATCTTCTAAAGAAATCAGGATCAGGCAAAAAGTTCCTTACCTGCCGAAGCGTATGATGTCTCATGATGGTCTCTTGTTTACTGACACTGGACACAGCTGGAGCCGTAGTGGGGGAGAGGGCTGCCTGCTGCTGTAATCGCTGTTCAATTTCCTGTTGGGAGTCATCACATCAGGTGATTGAGCAGGACAGCACCCAATACCCAATTTCCTTTTTTTTTTTTTTTTTTAAACAGAGACACAATCTGACTTTGTTGCCCAGGCTGGTCTGGCACTCCTGGGCTCAAGCAATCCTCTCACCTTAGCCTCCCCAAAGTGCTGGGATTACAGGCATGAATCACTGCACCTGGCCCACCCAATTTCCTAACCAGAAAACCTGGAGGTGTTCTTACCTCTAATGTTGTTGGCTAGTTGGTGGAATATGGAAAAGGCAAAAGAGTTTGGTGGGGGTGGTACACTGAGATTTCTGGGTATAAGCAGCTAACTTGCTTCAATGATCAAGGGATCCTCCTCTCTTTCTCCAGGAAAGCTGGCTCTAAGAAGTTGGCTGGAGGTGATGAACCAACTGATATAATTAAGGCTGATGAATTACTGGGGTTTTATTTTATCACTTTTTCTTTTCTCTTTTTAAAAATTTTTATTTATTTATTTTTTACCACCAGTCCTAGAGCATAAATGGGGTTTTATTTTTGACTCCTGCCTACCCGATCTTCCAAAAAGTCCATGATGCTACTCAAACAAGGGACTCTGATGGGTGGAGTGGGAAATAGGAAGAAAAGGATCTGAGTTTCCCAACACATTTTTCCTTCTCTAAGATATTCTCATCCTATAACTGCTACATGAGATGTTCACATACTCTAGAACCACTACTCTTCACTGGGCTACTTCATAATTCACTCTTTCTTTCGTCATTTCTTATCAAACACGCACTGCAAATAACTGTTTCAAAGAGATTTATAGCACAAATATAAATTCCTCCCACCAAAATCTATTATTTGTTTTAGGAAAAAATGAAGATGAGAATAGAGTGCTATGGAAAAGCCAAGAGTCCCAAGCTTTCTGTCCCTTTCTGTTAACCTCAGCCATTATATTTTACCATGTTCTTAATCAGAATACTCGCTCAAATGGAAATAGGACACAATGATAAGGAGACAAAAAGGGAACCTGTGGACCTGTAGGGATCACATGAACCACTCCTGCAAACTAGAAGGCGCGACCCTTTGGAAAAAACAAACTGGGACAGGTGGCCAGTGAGCAGTCAGAATTCTTACCTGTTCCTGCTGTAGGGCTTTCACAAATGCATTTTTCAGCCGGTTGGTGTGTTCAGCTTTTAGAGCCTTTTTCTGGTTGGAGGTCATACACTGCTCACATAGAATCTTACCATTCTTTTCTTGCTTCCAGTGAGGGGTGAAATCTGTGCGGCACTGGGCACGTACAAAGGGTTCAACCCGCAGAAGTGAGGCACAGCTTTTGCCTAGATACCAACAAAAATAGTCAGTGGCTTTACATTTCCTATCTCCTCTGTTTCTCTTAATCAAATAGATCTTTTCCAGGAGTTTATTCTGTTGAATTAAAGAAAGAGACTTTACAAAAAGGATATTCTATAATTTACAAAATACTTTTATTTCATCTGATTATAACAGTATCACTTTAGGGAATTCAGACAGTACCATCCTCATTTACAAATGAGGACAGAAGTCGAAGAAATGTAGCTTCTGGCTGGGTGCGGTGGCTCACCCCTACAGTCCCAGCACTTTGGGAGGCTGAGGTGGACGGCTAACGAGGTCAGGAGTTCAAGAACAGCCTGACCAACATAGTGAAAACCCGTCTTTACTAAAAATACAAAAAAATTAGGCGGGCGTGGTGGCACGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGCCGAAATTGTGCCAGTGCACTCCAGCCTGGGTAACAGAACAAGACTCAGTCTCAAACAACAACAACAACAACAAAGGTAGCTTCTAACTGATAAAGCTGGGATGTTTCCTGATTTTCTACTGTATCACACTGAGAAGAAAATACTGTGTCAATTCAAAGTCAAAGGACTCTAACTCAACCAATACTTTTGCTTCTTAATATCTCCTTACCAAAGACTGTACTTATCCCTGTCATATACATTTATAGTTTTAAATAGTTATCAGTGTCTGAATTATTCACTTTGTGATCTATTTATAGCTAATACTGACTCCTCTGGGCACTTTACTGGCAGGCTTTCCCAGAAGTCTACCTGTTTAGAAATTCAAGTTTAATAACTTCAGTTAGTCTAGACTGTATGTTGTTAATACTCTATAGTATGGTTTAGTATTGGTTTACAGCTTTTTATAAGGTCTTTCTTAGTTATCTATGTAAGTGTGTGTTTCTCAACTGTAAGCATTCACAGAAGACTAAACACAGTAATTCAGTACAATGTTGCAAAAACACTCACATTAAAAACAGAAGTTCCAGGCCAGGCATGGTGGCTCACACCTGTGATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAATGTTGTTGACAGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTT
Task1_train_1557
A sequence alteration has been identified in GATAD2B (GATA zinc finger domain containing 2B) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
AGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAGTATTAATAATTTGAGGGAATAGTGCCAAGAATATTGTCTACAGCCTTACAGAAAAGGATTAAACCTCCAGAACCAAATATATTGAACTTGCATCTACTTACCAGAGTTTTATCCAGCATCTTACCTCAAAAAGAGTCTAGAAATTACTTTGAAATCTAAATCTCCTGCACTGACTCCTCTTACTCCTAATCCTATTTACTAGATAACTCTCATTTAGGTCATTCTGGGGTTAGCCTTAAAAGCATCATGCTTATTTGTGTAAGATGATAAAAAATGGCACATACTGCTTAAGACCTAGGTAACAAGAATTCCGGAAACTCTAACTGCCTCAGGTTCCCAAATCCGTGACTGTATCTTCTAATTCTCCTCTAATTTCAAAGATACATTCCCAGATCCTACTTTCCTTGAGATTGTCAGCGTAGTTGGTAGTATATAGGTCGAGGGCAATTGTTCTTTGGTCCTTTTTTTTTTCCCTCTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCCCGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGTGCCGCTACGCCCGGCTAATTTTTGTACTTTTTGTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGTCTTAAGCGACCCTCCCGCCTTGGCCTCCCCTTTGGCCTTAAACAATCAAC
AGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCGGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAGTATTAATAATTTGAGGGAATAGTGCCAAGAATATTGTCTACAGCCTTACAGAAAAGGATTAAACCTCCAGAACCAAATATATTGAACTTGCATCTACTTACCAGAGTTTTATCCAGCATCTTACCTCAAAAAGAGTCTAGAAATTACTTTGAAATCTAAATCTCCTGCACTGACTCCTCTTACTCCTAATCCTATTTACTAGATAACTCTCATTTAGGTCATTCTGGGGTTAGCCTTAAAAGCATCATGCTTATTTGTGTAAGATGATAAAAAATGGCACATACTGCTTAAGACCTAGGTAACAAGAATTCCGGAAACTCTAACTGCCTCAGGTTCCCAAATCCGTGACTGTATCTTCTAATTCTCCTCTAATTTCAAAGATACATTCCCAGATCCTACTTTCCTTGAGATTGTCAGCGTAGTTGGTAGTATATAGGTCGAGGGCAATTGTTCTTTGGTCCTTTTTTTTTTCCCTCTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCCCGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGTGCCGCTACGCCCGGCTAATTTTTGTACTTTTTGTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGTCTTAAGCGACCCTCCCGCCTTGGCCTCCCCTTTGGCCTTAAACAATCAAC
Task1_train_1558
This variant lies on Chromosome 1 and affects the gene TPM3 (tropomyosin 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Congenital myopathy with fiber type disproportion
AGTTGTATGGATTCTACCTCTAGCAGTATCCCTTCTGAGAAGACTAAATTTGAGAAGCAAATAGAAAAATCACAGTATAATGAAGAAACTATGAATACAAAATATAAAAATTACAAGTCAGTCAGGGTTCTCCTTCTGATCCAAGATTAATTGCCTCCAGAGCTTTTTTTTCTTAGACAGTCTTGCTCTTCAACCCAGACTGGAGTGCAGTGGCATTATCTCGGCTCACTGCAACCTCCATCTCCTGGTTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGTTGGGATTATAGACATGCGCCACCAAGCCCAACTAATTTTTTAAATATTTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCGAGTCATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACTACGCCCAGCCTTTAATGTTTTTCTTTTTTTTTTTTTTTGAGATGGGGTCTCACTCTGTTGCCCAGGCTGAAATGCAGTGGCACATCTTGGCTCACTGTAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTGGCTCAGCCTCCTGAGTAGCTAGGATTACAGGTGCACTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCACGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGCCTCCAAAGCTTTTGCCAAACAAATAACCAGCACCAATGTTTCAAAGATAAGGGTGGAGATTCTAGTTTCCAAAGGATAAAACCAAAGCACACCACTATGCATAGCTTGTACCCCCATCCACCCACAAGCCAAGATCCCAGCCCCACTCTACTGTCAGATAGTTACATAGAGGTCATGTCATTGAGGGCGTGGTCCAGCTCCTCGCTAATGGCCTTGTACTTCAGTTTCTGGGCATAGAGCTCATCTGGACAGGCACAGGAACCACAGGGAGGAATGAGGGGACAGAGTGAAGAGTTTCAGAAGCAGATGAAGAGAGGGAATCATTAGAAATTAGGAAAGTGTGACTGTGGGTCTAATACCACAGTTAGGAAAATATCTACTCTGGCAACCATGACTGGACATTTTCAGATCTACTCTCTCCTATGACCAACTTCCTTTCTTGATACTCCAAATCGACTGCAGCAAGGGCTGAGAACCTGGGCACAGTCATAACTAGAAATTCCTATTACCAAAAGCACTCAAGAGGATACCACTCCCATCCAGGTACCCAATTCCTAGCAGTGATAACACTTAATTGAACAAAAATAGCAAAGGGAGAGAGTATATATCCATATTCAGACACTTCTCTGCCTACAAAATGTGAACCTATTAGTGGCCCCTCTGCTCCACAGGCTGCCCCTGCAACTCTGCCAAGAGAGTGTACCAAAGGAGCATACATCAGAGTTCTCAAAGCAAAGAGTACGTTCCCTTGTCAGGGTGGATGGCAGTTACCAACTTGCAGGGACAGAAAGTATTTAGAAAGCTCCTGACATTGGTCAATGTTCAGATATGGTTATTCCACAACTTCATTTATTGGATAAATACCCGACAACTTGAGTGGCAAAAAGAACTGTGGAAAGTAGCCATGAAATGACATACATCTTGCCCTTCTGAAATCATGGCTTCCATTTAAACCCACAGACTAAAGGTTTAAGACTAATAAATTGGAGGTAAATGCAGCCATTATCATTCTCCTCAAAAGGGAAGGGTACAAATTGCAGACTATTTGGTAAAGTCTTCTTAAAGGAAAAGATTAAATTTAAAAAACCAATTCTAGAGTTTGACCCACTTTGCCTAGCTGTGGCATAGGACAGTGCACATGATATTAATACATGCCAAGTCACTACCAACTTCCTTTGGTGTACAGAAAAAGAGATTAATGGTTAATGGGCAGTCTTCCTCTATATTTCTCTATTTCAATCCCTACTCCAGGTTCCATACCTTCCAGGTCATCAATTGTCTTTTCCAGCTTGGCTACCGATCTCTCAGCAAACTCAGCACGGGTCTCTGCCTGGGGGAAATATGAAATTAGTCAGAACCAGAGATGAAGACAAAGAAGAACAATCTCTATTTCTTCCACCTTCTACTTCTGGACCTTTCAGAACCCAAACCAGCCAGTTTAAATCCATATTAATGCCTTATATACCTCTAAATGTTTTGGGTTCTGCCCTATAAATCCCCTCAGCTCACCTCCTTGAGTTTATCAGTAAGAATCTTGATTTCTTCCTCATATTTATCTTCTTTTTGAGAGTACTGTAAGATAAGTAGATTAAAAATTTCAGAGTAGAAATTAGTCACACAGGCAATACCCCCCTCCCTACATTTAACTTACATTGAATATCCTCTTGCACTAAATGTGCTGAATGGTCCAAGAGTAAGAGCAAGGCCTGGCTCTGGACAATAGGTCCTTGAAATTCAGAAATCTATGTCTTTAGAGCCATGAGATCCTCAGGTTAAAATTCTCCATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGC
AGTTGTATGGATTCTACCTCTAGCAGTATCCCTTCTGAGAAGACTAAATTTGAGAAGCAAATAGAAAAATCACAGTATAATGAAGAAACTATGAATACAAAATATAAAAATTACAAGTCAGTCAGGGTTCTCCTTCTGATCCAAGATTAATTGCCTCCAGAGCTTTTTTTTCTTAGACAGTCTTGCTCTTCAACCCAGACTGGAGTGCAGTGGCATTATCTCGGCTCACTGCAACCTCCATCTCCTGGTTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGTTGGGATTATAGACATGCGCCACCAAGCCCAACTAATTTTTTAAATATTTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCGAGTCATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACTACGCCCAGCCTTTAATGTTTTTCTTTTTTTTTTTTTTTGAGATGGGGTCTCACTCTGTTGCCCAGGCTGAAATGCAGTGGCACATCTTGGCTCACTGTAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTGGCTCAGCCTCCTGAGTAGCTAGGATTACAGGTGCACTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCACGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGCCTCCAAAGCTTTTGCCAAACAAATAACCAGCACCAATGTTTCAAAGATAAGGGTGGAGATTCTAGTTTCCAAAGGATAAAACCAAAGCACACCACTATGCATAGCTTGTACCCCCATCCACCCACAAGCCAAGATCCCAGCCCCACTCTACTGTCAGATAGTTACATAGAGGTCATGTCATTGAGGGCGTGGTCCAGCTCCTCGCTAATGGCCTTGTACTTCAGTTTCTGGGCATAGAGCTCATCTGGACAGGCACAGGAACCACAGGGAGGAATGAGGGGACAGAGTGAAGAGTTTCAGAAGCAGATGAAGAGAGGGAATCATTAGAAATTAGGAAAGTGTGACTGTGGGTCTAATACCACAGTTAGGAAAATATCTACTCTGGCAACCATGACTGGACATTTTCAGATCTACTCTCTCCTATGACCAACTTCCTTTCTTGATACTCCAAATCGACTGCAGCAAGGGCTGAGAACCTGGGCACAGTCATAACTAGAAATTCCTATTACCAAAAGCACTCAAGAGGATACCACTCCCATCCAGGTACCCAATTCCTAGCAGTGATAACACTTAATTGAACAAAAATAGCAAAGGGAGAGAGTATATATCCATATTCAGACACTTCTCTGCCTACAAAATGTGAACCTATTAGTGGCCCCTCTGCTCCACAGGCTGCCCCTGCAACTCTGCCAAGAGAGTGTACCAAAGGAGCATACATCAGAGTTCTCAAAGCAAAGAGTACGTTCCCTTGTCAGGGTGGATGGCAGTTACCAACTTGCAGGGACAGAAAGTATTTAGAAAGCTCCTGACATTGGTCAATGTTCAGATATGGTTATTCCACAACTTCATTTATTGGATAAATACCCGACAACTTGAGTGGCAAAAAGAACTGTGGAAAGTAGCCATGAAATGACATACATCTTGCCCTTCTGAAATCATGGCTTCCATTTAAACCCACAGACTAAAGGTTTAAGACTAATAAATTGGAGGTAAATGCAGCCATTATCATTCTCCTCAAAAGGGAAGGGTACAAATTGCAGACTATTTGGTAAAGTCTTCTTAAAGGAAAAGATTAAATTTAAAAAACCAATTCTAGAGTTTGACCCACTTTGCCTAGCTGTGGCATAGGACAGTGCACATGATATTAATACATGCCAAGTCACTACCAACTTCCTTTGGTGTACAGAAAAAGAGATTAATGGTTAATGGGCAGTCTTCCTCTATATTTCTCTATTTCAATCCCTACTCCAGGTTCCATACCTTCCAGGTCATCAATTTTCTTTTCCAGCTTGGCTACCGATCTCTCAGCAAACTCAGCACGGGTCTCTGCCTGGGGGAAATATGAAATTAGTCAGAACCAGAGATGAAGACAAAGAAGAACAATCTCTATTTCTTCCACCTTCTACTTCTGGACCTTTCAGAACCCAAACCAGCCAGTTTAAATCCATATTAATGCCTTATATACCTCTAAATGTTTTGGGTTCTGCCCTATAAATCCCCTCAGCTCACCTCCTTGAGTTTATCAGTAAGAATCTTGATTTCTTCCTCATATTTATCTTCTTTTTGAGAGTACTGTAAGATAAGTAGATTAAAAATTTCAGAGTAGAAATTAGTCACACAGGCAATACCCCCCTCCCTACATTTAACTTACATTGAATATCCTCTTGCACTAAATGTGCTGAATGGTCCAAGAGTAAGAGCAAGGCCTGGCTCTGGACAATAGGTCCTTGAAATTCAGAAATCTATGTCTTTAGAGCCATGAGATCCTCAGGTTAAAATTCTCCATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGC
Task1_train_1559
A variant found in Chromosome 1 affects TPM3 (tropomyosin 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Congenital myopathy 4B, autosomal recessive
AGTTGTATGGATTCTACCTCTAGCAGTATCCCTTCTGAGAAGACTAAATTTGAGAAGCAAATAGAAAAATCACAGTATAATGAAGAAACTATGAATACAAAATATAAAAATTACAAGTCAGTCAGGGTTCTCCTTCTGATCCAAGATTAATTGCCTCCAGAGCTTTTTTTTCTTAGACAGTCTTGCTCTTCAACCCAGACTGGAGTGCAGTGGCATTATCTCGGCTCACTGCAACCTCCATCTCCTGGTTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGTTGGGATTATAGACATGCGCCACCAAGCCCAACTAATTTTTTAAATATTTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCGAGTCATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACTACGCCCAGCCTTTAATGTTTTTCTTTTTTTTTTTTTTTGAGATGGGGTCTCACTCTGTTGCCCAGGCTGAAATGCAGTGGCACATCTTGGCTCACTGTAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTGGCTCAGCCTCCTGAGTAGCTAGGATTACAGGTGCACTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCACGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGCCTCCAAAGCTTTTGCCAAACAAATAACCAGCACCAATGTTTCAAAGATAAGGGTGGAGATTCTAGTTTCCAAAGGATAAAACCAAAGCACACCACTATGCATAGCTTGTACCCCCATCCACCCACAAGCCAAGATCCCAGCCCCACTCTACTGTCAGATAGTTACATAGAGGTCATGTCATTGAGGGCGTGGTCCAGCTCCTCGCTAATGGCCTTGTACTTCAGTTTCTGGGCATAGAGCTCATCTGGACAGGCACAGGAACCACAGGGAGGAATGAGGGGACAGAGTGAAGAGTTTCAGAAGCAGATGAAGAGAGGGAATCATTAGAAATTAGGAAAGTGTGACTGTGGGTCTAATACCACAGTTAGGAAAATATCTACTCTGGCAACCATGACTGGACATTTTCAGATCTACTCTCTCCTATGACCAACTTCCTTTCTTGATACTCCAAATCGACTGCAGCAAGGGCTGAGAACCTGGGCACAGTCATAACTAGAAATTCCTATTACCAAAAGCACTCAAGAGGATACCACTCCCATCCAGGTACCCAATTCCTAGCAGTGATAACACTTAATTGAACAAAAATAGCAAAGGGAGAGAGTATATATCCATATTCAGACACTTCTCTGCCTACAAAATGTGAACCTATTAGTGGCCCCTCTGCTCCACAGGCTGCCCCTGCAACTCTGCCAAGAGAGTGTACCAAAGGAGCATACATCAGAGTTCTCAAAGCAAAGAGTACGTTCCCTTGTCAGGGTGGATGGCAGTTACCAACTTGCAGGGACAGAAAGTATTTAGAAAGCTCCTGACATTGGTCAATGTTCAGATATGGTTATTCCACAACTTCATTTATTGGATAAATACCCGACAACTTGAGTGGCAAAAAGAACTGTGGAAAGTAGCCATGAAATGACATACATCTTGCCCTTCTGAAATCATGGCTTCCATTTAAACCCACAGACTAAAGGTTTAAGACTAATAAATTGGAGGTAAATGCAGCCATTATCATTCTCCTCAAAAGGGAAGGGTACAAATTGCAGACTATTTGGTAAAGTCTTCTTAAAGGAAAAGATTAAATTTAAAAAACCAATTCTAGAGTTTGACCCACTTTGCCTAGCTGTGGCATAGGACAGTGCACATGATATTAATACATGCCAAGTCACTACCAACTTCCTTTGGTGTACAGAAAAAGAGATTAATGGTTAATGGGCAGTCTTCCTCTATATTTCTCTATTTCAATCCCTACTCCAGGTTCCATACCTTCCAGGTCATCAATTGTCTTTTCCAGCTTGGCTACCGATCTCTCAGCAAACTCAGCACGGGTCTCTGCCTGGGGGAAATATGAAATTAGTCAGAACCAGAGATGAAGACAAAGAAGAACAATCTCTATTTCTTCCACCTTCTACTTCTGGACCTTTCAGAACCCAAACCAGCCAGTTTAAATCCATATTAATGCCTTATATACCTCTAAATGTTTTGGGTTCTGCCCTATAAATCCCCTCAGCTCACCTCCTTGAGTTTATCAGTAAGAATCTTGATTTCTTCCTCATATTTATCTTCTTTTTGAGAGTACTGTAAGATAAGTAGATTAAAAATTTCAGAGTAGAAATTAGTCACACAGGCAATACCCCCCTCCCTACATTTAACTTACATTGAATATCCTCTTGCACTAAATGTGCTGAATGGTCCAAGAGTAAGAGCAAGGCCTGGCTCTGGACAATAGGTCCTTGAAATTCAGAAATCTATGTCTTTAGAGCCATGAGATCCTCAGGTTAAAATTCTCCATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGC
AGTTGTATGGATTCTACCTCTAGCAGTATCCCTTCTGAGAAGACTAAATTTGAGAAGCAAATAGAAAAATCACAGTATAATGAAGAAACTATGAATACAAAATATAAAAATTACAAGTCAGTCAGGGTTCTCCTTCTGATCCAAGATTAATTGCCTCCAGAGCTTTTTTTTCTTAGACAGTCTTGCTCTTCAACCCAGACTGGAGTGCAGTGGCATTATCTCGGCTCACTGCAACCTCCATCTCCTGGTTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGTTGGGATTATAGACATGCGCCACCAAGCCCAACTAATTTTTTAAATATTTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCGAGTCATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACTACGCCCAGCCTTTAATGTTTTTCTTTTTTTTTTTTTTTGAGATGGGGTCTCACTCTGTTGCCCAGGCTGAAATGCAGTGGCACATCTTGGCTCACTGTAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTGGCTCAGCCTCCTGAGTAGCTAGGATTACAGGTGCACTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCACGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGCCTCCAAAGCTTTTGCCAAACAAATAACCAGCACCAATGTTTCAAAGATAAGGGTGGAGATTCTAGTTTCCAAAGGATAAAACCAAAGCACACCACTATGCATAGCTTGTACCCCCATCCACCCACAAGCCAAGATCCCAGCCCCACTCTACTGTCAGATAGTTACATAGAGGTCATGTCATTGAGGGCGTGGTCCAGCTCCTCGCTAATGGCCTTGTACTTCAGTTTCTGGGCATAGAGCTCATCTGGACAGGCACAGGAACCACAGGGAGGAATGAGGGGACAGAGTGAAGAGTTTCAGAAGCAGATGAAGAGAGGGAATCATTAGAAATTAGGAAAGTGTGACTGTGGGTCTAATACCACAGTTAGGAAAATATCTACTCTGGCAACCATGACTGGACATTTTCAGATCTACTCTCTCCTATGACCAACTTCCTTTCTTGATACTCCAAATCGACTGCAGCAAGGGCTGAGAACCTGGGCACAGTCATAACTAGAAATTCCTATTACCAAAAGCACTCAAGAGGATACCACTCCCATCCAGGTACCCAATTCCTAGCAGTGATAACACTTAATTGAACAAAAATAGCAAAGGGAGAGAGTATATATCCATATTCAGACACTTCTCTGCCTACAAAATGTGAACCTATTAGTGGCCCCTCTGCTCCACAGGCTGCCCCTGCAACTCTGCCAAGAGAGTGTACCAAAGGAGCATACATCAGAGTTCTCAAAGCAAAGAGTACGTTCCCTTGTCAGGGTGGATGGCAGTTACCAACTTGCAGGGACAGAAAGTATTTAGAAAGCTCCTGACATTGGTCAATGTTCAGATATGGTTATTCCACAACTTCATTTATTGGATAAATACCCGACAACTTGAGTGGCAAAAAGAACTGTGGAAAGTAGCCATGAAATGACATACATCTTGCCCTTCTGAAATCATGGCTTCCATTTAAACCCACAGACTAAAGGTTTAAGACTAATAAATTGGAGGTAAATGCAGCCATTATCATTCTCCTCAAAAGGGAAGGGTACAAATTGCAGACTATTTGGTAAAGTCTTCTTAAAGGAAAAGATTAAATTTAAAAAACCAATTCTAGAGTTTGACCCACTTTGCCTAGCTGTGGCATAGGACAGTGCACATGATATTAATACATGCCAAGTCACTACCAACTTCCTTTGGTGTACAGAAAAAGAGATTAATGGTTAATGGGCAGTCTTCCTCTATATTTCTCTATTTCAATCCCTACTCCAGGTTCCATACCTTCCAGGTCATCAATTTTCTTTTCCAGCTTGGCTACCGATCTCTCAGCAAACTCAGCACGGGTCTCTGCCTGGGGGAAATATGAAATTAGTCAGAACCAGAGATGAAGACAAAGAAGAACAATCTCTATTTCTTCCACCTTCTACTTCTGGACCTTTCAGAACCCAAACCAGCCAGTTTAAATCCATATTAATGCCTTATATACCTCTAAATGTTTTGGGTTCTGCCCTATAAATCCCCTCAGCTCACCTCCTTGAGTTTATCAGTAAGAATCTTGATTTCTTCCTCATATTTATCTTCTTTTTGAGAGTACTGTAAGATAAGTAGATTAAAAATTTCAGAGTAGAAATTAGTCACACAGGCAATACCCCCCTCCCTACATTTAACTTACATTGAATATCCTCTTGCACTAAATGTGCTGAATGGTCCAAGAGTAAGAGCAAGGCCTGGCTCTGGACAATAGGTCCTTGAAATTCAGAAATCTATGTCTTTAGAGCCATGAGATCCTCAGGTTAAAATTCTCCATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGC
Task1_train_1560
A genetic alteration is present in TPM3 (tropomyosin 3) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Congenital myopathy 4B, autosomal recessive
CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTATGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
Task1_train_1561
The gene TPM3 (tropomyosin 3) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Congenital myopathy with fiber type disproportion
CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTATGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
Task1_train_1562
Consider this mutation in TPM3 (tropomyosin 3) on Chromosome 1. Is this a benign change or a disease-causing variant?
Pathogenic; Congenital myopathy 4B, autosomal recessive
CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTATGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
Task1_train_1563
Given this variant in gene TPM3 (tropomyosin 3) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; See cases
CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTATGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
Task1_train_1564
A sequence alteration has been identified in TPM3 (tropomyosin 3) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Inborn genetic diseases
ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACAAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
Task1_train_1565
This mutation is located in gene TPM3 (tropomyosin 3) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Nemaline myopathy
ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACAAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
Task1_train_1566
This sequence variant lies in TPM3 (tropomyosin 3) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Congenital myopathy 4A, autosomal dominant
ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACAAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
Task1_train_1567
This sequence variant lies in TPM3 (tropomyosin 3) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Congenital myopathy with fiber type disproportion
ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACAAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
Task1_train_1568
Here is a genetic alteration in TPM3 (tropomyosin 3) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Congenital myopathy 4B, autosomal recessive
ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACAAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
Task1_train_1569
A variant affecting Chromosome 1, within the gene TPM3 (tropomyosin 3), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Congenital myopathy 4A, autosomal dominant
CATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAA
CATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGATTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAA
Task1_train_1570
Gene TPM3 (tropomyosin 3) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Congenital myopathy 4A, autosomal dominant
AACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCTATAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGAGAACTTTAAAAACATCAATGCCCAGACCCCTCTTGCAACTGATTCTAATGGAACTGGGATGAGATCTAAGCATCCAGTTTTAAATTCCCCAGTGATTTCCCCCCTCACCCCTACCTATGATTCTAATAATGCAACCAGCGTTGAGAAGGCTTACTAAAAACAGATTGCCAGGCCCCACATCCAAAGTTTCTGATTCAGCAGATCAGCATAGGAGCTGAGAATGTGAATTTTTACCAAGTTCCCAAGTATTGCTGATGCTGCTGGTCTGAGACCTTACTTAGAGAACCTCTGTTTTAGAGAAATTAATCTCACAAATAGAAGCTTATGATCCAGAAAGTAGAAGTCATACTGGTGATCCCATTTTAAGGATCATTAGGCCAATTTGTAAGGAAATACCAATTACAAAAGGGTCACAACATCTAAGTTACCCTTACTGTCTTCAAGGGGACAGAATATGCAGAATAGAAAGGAGATCCTGTGTGATGGAGTTAGTATTTTATTTTTATTGACTGATTGACACAGGGTCTTTCTCTGTCACCCAGGAGTGCAGTGGCGCAATCAGAGCTCACTGTAGCCCCAACTTCCTGGGCTTGAGCCACCCTCCTGCCTCAGCGTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACGCAGCCAGAATTGCTATTTAGAAAACAGGTCTATAAGGAAATCTTGATCAGAACTATTATGAACTTTTAAAATCCACACTCCATCAGGCTTCCCTACACACCTCTCACTCTCATCAGCAGCTTTTTCAGCTTCTTCCAGCTTTTGCAGGGCAGTGGCCAGGCGCTCCTGAGCACGGTCCAGCTCTTCTTCAACCAGCTGGATCCTACGGTTCAAGGAGGCCACCTCAGCCTCAGCCTGCATTTGAAGGAAAGAATGGACAAGGGAAGCAGAGGCATGGAGAAAAGAAGAAATAACTATGACATTAAGATCAGGGTTGACTACCATGAAAAAGCCAGAGTCTCGCAGGGTAGAACTTGTCTTAGCTCAGCTGTTAAAAGATCTAGCAGACATAACTTTATATATATATATTTCCTCCCTTTCCCATCAACGAACTCCCATATGTTCCACAGGAAGAGTGTTTTAAAACTCAGTTCCTTGCCCAGCCCAGTGAGTTAGTACCACCCACTTCCTGGACTCAGTTCAAATTCCTCAACACACTGGAGTCAGAAAAGAAAGTCAATGAAGGGTTCCTTCTGCCTGAGCTCTGGCTTGGAGGCATGTCTCATCCTCAGTAACCTTTCAAGTGTCTCATAAAGCAGGAAAAAAAAAAAAAAAAAAGCAAGGTTTCTTAAAGAGGGTATCCTGACTGGGTGTGGTGGCTCATGCCTGTAATCCCAGTATTCTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGACTCTAATAAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTACCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCCCTTGAACCCGGGAGGCAGAGGTTGTACTGAGCTGAGATTGCGCCACTACACTCCAGCCTGGGCAACACGGTGAAACTCCATTTCAAAAAAAAAAAAAAAAAAAGAGGGAATCCTGGATTACCTATTAATTGCTGCTTAACTCAAACCGTTATTCCTATGATCACTTTACCCTAACACATCAGAAGAATAACTAGCCAAGGGAATGTCTTCCAGAATAGCCTTCCAGACTGGAAAGCAAAAGAATGGAATATTGTTGGGATGCCTACTCACCAGCCCTTCAACTTGTGCCCCCGTACTCCTTTTTTAAGTTGGCTACAAGGAGCTGCTTCTGGCTAAAATTATCTGCTTTGATAGCTTTACAAAAAAGAAAGAACATTTCCACCACACCCACTACCATTCCTCCAAATTTCTGAATTTTCTCCTTTCTATTCCTCCAGCCATCCCCTTAGCTTCACCCTCTAATACAGCGACAATCTTCCCCCTGGCCTCCATCTCACAATGAAGTATATAGGTTAGAGTCCAAGTAAACCCATCCTGGATGGGTTTTCTCTAAGAAACAAGGAAAGAAGGAGGCAGCCTGCAGGTGGATGGATAAATTCTAATGGTAGGAAAACCTCTTTCCATGACTGCCTCCCCGCTACCTTTACTGGTGGGAGGTACCCTGACTGCAACAGTATACAAGAATTTAATATGCCCCGCACACCACCCAGTTCAGATGCTTATCCAAGTGCCTGGTAAACACGATCTCTCTTCTATAGCCCAGATTGTGCCTGAATTCTATTACCCTGATTTCTTCCTGGCAGGCAGGAGTTGGTGCAGCTATAGAAACAGCCTGGGCCACTAGCTCCGATGAGGAAGAATATAGACCAAAAGACTCCTTTTTAACCATCAGGACTGGCACAAAAACTTCCACATACAAACATGAGAAGCTGAAGAGACTAGGAAGGGAAGCAGAGGGCTGGGGCTACAATCTAGCCACCAGGCAAAGAAAATCGAGAAGTCAACATAAGCTGAAATCATTAAGAAACCATTTGTGCCTCTAACTACACTACTCAAAACACCACAAAGACAAGTATTCTCTGCTTCTGCCTCTTCCAGAAAAATAGATGTTCTCTGTAACAACACACATTTCTCCTCACAAACCCAACAAGGCCATGGATCAAGAGCAAGTCAGGCTATCAGGCAAGACCTAGGAGACACTGCTAGTAAAATGACTTACCCCCCTCAGACGAAAAATACAACTAGATTTAGAGGAAGCTCATGAAATGTAAGACATCATGCAGCTCACCAGTAGTTACCCAAACTGGAGTAGAAGATAACAGGCTATGGGGCGGGGGTGTACAGTTG
AACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCTATAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGAGAACTTTAAAAACATCAATGCCCAGACCCCTCTTGCAACTGATTCTAATGGAACTGGGATGAGATCTAAGCATCCAGTTTTAAATTCCCCAGTGATTTCCCCCCTCACCCCTACCTATGATTCTAATAATGCAACCAGCGTTGAGAAGGCTTACTAAAAACAGATTGCCAGGCCCCACATCCAAAGTTTCTGATTCAGCAGATCAGCATAGGAGCTGAGAATGTGAATTTTTACCAAGTTCCCAAGTATTGCTGATGCTGCTGGTCTGAGACCTTACTTAGAGAACCTCTGTTTTAGAGAAATTAATCTCACAAATAGAAGCTTATGATCCAGAAAGTAGAAGTCATACTGGTGATCCCATTTTAAGGATCATTAGGCCAATTTGTAAGGAAATACCAATTACAAAAGGGTCACAACATCTAAGTTACCCTTACTGTCTTCAAGGGGACAGAATATGCAGAATAGAAAGGAGATCCTGTGTGATGGAGTTAGTATTTTATTTTTATTGACTGATTGACACAGGGTCTTTCTCTGTCACCCAGGAGTGCAGTGGCGCAATCAGAGCTCACTGTAGCCCCAACTTCCTGGGCTTGAGCCACCCTCCTGCCTCAGCGTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACGCAGCCAGAATTGCTATTTAGAAAACAGGTCTATAAGGAAATCTTGATCAGAACTATTATGAACTTTTAAAATCCACACTCCATCAGGCTTCCCTACACACCTCTCACTCTCATCAGCAGCTTTTTCAGCTTCTTCCAGCTTTTGCAGGGCAGTGGCCAGGCGCTCCTGAGCACGGTCCATCTCTTCTTCAACCAGCTGGATCCTACGGTTCAAGGAGGCCACCTCAGCCTCAGCCTGCATTTGAAGGAAAGAATGGACAAGGGAAGCAGAGGCATGGAGAAAAGAAGAAATAACTATGACATTAAGATCAGGGTTGACTACCATGAAAAAGCCAGAGTCTCGCAGGGTAGAACTTGTCTTAGCTCAGCTGTTAAAAGATCTAGCAGACATAACTTTATATATATATATTTCCTCCCTTTCCCATCAACGAACTCCCATATGTTCCACAGGAAGAGTGTTTTAAAACTCAGTTCCTTGCCCAGCCCAGTGAGTTAGTACCACCCACTTCCTGGACTCAGTTCAAATTCCTCAACACACTGGAGTCAGAAAAGAAAGTCAATGAAGGGTTCCTTCTGCCTGAGCTCTGGCTTGGAGGCATGTCTCATCCTCAGTAACCTTTCAAGTGTCTCATAAAGCAGGAAAAAAAAAAAAAAAAAAGCAAGGTTTCTTAAAGAGGGTATCCTGACTGGGTGTGGTGGCTCATGCCTGTAATCCCAGTATTCTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGACTCTAATAAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTACCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCCCTTGAACCCGGGAGGCAGAGGTTGTACTGAGCTGAGATTGCGCCACTACACTCCAGCCTGGGCAACACGGTGAAACTCCATTTCAAAAAAAAAAAAAAAAAAAGAGGGAATCCTGGATTACCTATTAATTGCTGCTTAACTCAAACCGTTATTCCTATGATCACTTTACCCTAACACATCAGAAGAATAACTAGCCAAGGGAATGTCTTCCAGAATAGCCTTCCAGACTGGAAAGCAAAAGAATGGAATATTGTTGGGATGCCTACTCACCAGCCCTTCAACTTGTGCCCCCGTACTCCTTTTTTAAGTTGGCTACAAGGAGCTGCTTCTGGCTAAAATTATCTGCTTTGATAGCTTTACAAAAAAGAAAGAACATTTCCACCACACCCACTACCATTCCTCCAAATTTCTGAATTTTCTCCTTTCTATTCCTCCAGCCATCCCCTTAGCTTCACCCTCTAATACAGCGACAATCTTCCCCCTGGCCTCCATCTCACAATGAAGTATATAGGTTAGAGTCCAAGTAAACCCATCCTGGATGGGTTTTCTCTAAGAAACAAGGAAAGAAGGAGGCAGCCTGCAGGTGGATGGATAAATTCTAATGGTAGGAAAACCTCTTTCCATGACTGCCTCCCCGCTACCTTTACTGGTGGGAGGTACCCTGACTGCAACAGTATACAAGAATTTAATATGCCCCGCACACCACCCAGTTCAGATGCTTATCCAAGTGCCTGGTAAACACGATCTCTCTTCTATAGCCCAGATTGTGCCTGAATTCTATTACCCTGATTTCTTCCTGGCAGGCAGGAGTTGGTGCAGCTATAGAAACAGCCTGGGCCACTAGCTCCGATGAGGAAGAATATAGACCAAAAGACTCCTTTTTAACCATCAGGACTGGCACAAAAACTTCCACATACAAACATGAGAAGCTGAAGAGACTAGGAAGGGAAGCAGAGGGCTGGGGCTACAATCTAGCCACCAGGCAAAGAAAATCGAGAAGTCAACATAAGCTGAAATCATTAAGAAACCATTTGTGCCTCTAACTACACTACTCAAAACACCACAAAGACAAGTATTCTCTGCTTCTGCCTCTTCCAGAAAAATAGATGTTCTCTGTAACAACACACATTTCTCCTCACAAACCCAACAAGGCCATGGATCAAGAGCAAGTCAGGCTATCAGGCAAGACCTAGGAGACACTGCTAGTAAAATGACTTACCCCCCTCAGACGAAAAATACAACTAGATTTAGAGGAAGCTCATGAAATGTAAGACATCATGCAGCTCACCAGTAGTTACCCAAACTGGAGTAGAAGATAACAGGCTATGGGGCGGGGGTGTACAGTTG
Task1_train_1571
With a mutation on Chromosome 1 in gene TPM3 (tropomyosin 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Congenital myopathy 4B, autosomal recessive
AAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCTATAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGAGAACTTTAAAAACATCAATGCCCAGACCCCTCTTGCAACTGATTCTAATGGAACTGGGATGAGATCTAAGCATCCAGTTTTAAATTCCCCAGTGATTTCCCCCCTCACCCCTACCTATGATTCTAATAATGCAACCAGCGTTGAGAAGGCTTACTAAAAACAGATTGCCAGGCCCCACATCCAAAGTTTCTGATTCAGCAGATCAGCATAGGAGCTGAGAATGTGAATTTTTACCAAGTTCCCAAGTATTGCTGATGCTGCTGGTCTGAGACCTTACTTAGAGAACCTCTGTTTTAGAGAAATTAATCTCACAAATAGAAGCTTATGATCCAGAAAGTAGAAGTCATACTGGTGATCCCATTTTAAGGATCATTAGGCCAATTTGTAAGGAAATACCAATTACAAAAGGGTCACAACATCTAAGTTACCCTTACTGTCTTCAAGGGGACAGAATATGCAGAATAGAAAGGAGATCCTGTGTGATGGAGTTAGTATTTTATTTTTATTGACTGATTGACACAGGGTCTTTCTCTGTCACCCAGGAGTGCAGTGGCGCAATCAGAGCTCACTGTAGCCCCAACTTCCTGGGCTTGAGCCACCCTCCTGCCTCAGCGTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACGCAGCCAGAATTGCTATTTAGAAAACAGGTCTATAAGGAAATCTTGATCAGAACTATTATGAACTTTTAAAATCCACACTCCATCAGGCTTCCCTACACACCTCTCACTCTCATCAGCAGCTTTTTCAGCTTCTTCCAGCTTTTGCAGGGCAGTGGCCAGGCGCTCCTGAGCACGGTCCAGCTCTTCTTCAACCAGCTGGATCCTACGGTTCAAGGAGGCCACCTCAGCCTCAGCCTGCATTTGAAGGAAAGAATGGACAAGGGAAGCAGAGGCATGGAGAAAAGAAGAAATAACTATGACATTAAGATCAGGGTTGACTACCATGAAAAAGCCAGAGTCTCGCAGGGTAGAACTTGTCTTAGCTCAGCTGTTAAAAGATCTAGCAGACATAACTTTATATATATATATTTCCTCCCTTTCCCATCAACGAACTCCCATATGTTCCACAGGAAGAGTGTTTTAAAACTCAGTTCCTTGCCCAGCCCAGTGAGTTAGTACCACCCACTTCCTGGACTCAGTTCAAATTCCTCAACACACTGGAGTCAGAAAAGAAAGTCAATGAAGGGTTCCTTCTGCCTGAGCTCTGGCTTGGAGGCATGTCTCATCCTCAGTAACCTTTCAAGTGTCTCATAAAGCAGGAAAAAAAAAAAAAAAAAAGCAAGGTTTCTTAAAGAGGGTATCCTGACTGGGTGTGGTGGCTCATGCCTGTAATCCCAGTATTCTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGACTCTAATAAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTACCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCCCTTGAACCCGGGAGGCAGAGGTTGTACTGAGCTGAGATTGCGCCACTACACTCCAGCCTGGGCAACACGGTGAAACTCCATTTCAAAAAAAAAAAAAAAAAAAGAGGGAATCCTGGATTACCTATTAATTGCTGCTTAACTCAAACCGTTATTCCTATGATCACTTTACCCTAACACATCAGAAGAATAACTAGCCAAGGGAATGTCTTCCAGAATAGCCTTCCAGACTGGAAAGCAAAAGAATGGAATATTGTTGGGATGCCTACTCACCAGCCCTTCAACTTGTGCCCCCGTACTCCTTTTTTAAGTTGGCTACAAGGAGCTGCTTCTGGCTAAAATTATCTGCTTTGATAGCTTTACAAAAAAGAAAGAACATTTCCACCACACCCACTACCATTCCTCCAAATTTCTGAATTTTCTCCTTTCTATTCCTCCAGCCATCCCCTTAGCTTCACCCTCTAATACAGCGACAATCTTCCCCCTGGCCTCCATCTCACAATGAAGTATATAGGTTAGAGTCCAAGTAAACCCATCCTGGATGGGTTTTCTCTAAGAAACAAGGAAAGAAGGAGGCAGCCTGCAGGTGGATGGATAAATTCTAATGGTAGGAAAACCTCTTTCCATGACTGCCTCCCCGCTACCTTTACTGGTGGGAGGTACCCTGACTGCAACAGTATACAAGAATTTAATATGCCCCGCACACCACCCAGTTCAGATGCTTATCCAAGTGCCTGGTAAACACGATCTCTCTTCTATAGCCCAGATTGTGCCTGAATTCTATTACCCTGATTTCTTCCTGGCAGGCAGGAGTTGGTGCAGCTATAGAAACAGCCTGGGCCACTAGCTCCGATGAGGAAGAATATAGACCAAAAGACTCCTTTTTAACCATCAGGACTGGCACAAAAACTTCCACATACAAACATGAGAAGCTGAAGAGACTAGGAAGGGAAGCAGAGGGCTGGGGCTACAATCTAGCCACCAGGCAAAGAAAATCGAGAAGTCAACATAAGCTGAAATCATTAAGAAACCATTTGTGCCTCTAACTACACTACTCAAAACACCACAAAGACAAGTATTCTCTGCTTCTGCCTCTTCCAGAAAAATAGATGTTCTCTGTAACAACACACATTTCTCCTCACAAACCCAACAAGGCCATGGATCAAGAGCAAGTCAGGCTATCAGGCAAGACCTAGGAGACACTGCTAGTAAAATGACTTACCCCCCTCAGACGAAAAATACAACTAGATTTAGAGGAAGCTCATGAAATGTAAGACATCATGCAGCTCACCAGTAGTTACCCAAACTGGAGTAGAAGATAACAGGCTATGGGGCGGGGGTGTACAGTTGCCATGACAGCAAGCTGGCTCAGGCAGT
AAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCTATAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGAGAACTTTAAAAACATCAATGCCCAGACCCCTCTTGCAACTGATTCTAATGGAACTGGGATGAGATCTAAGCATCCAGTTTTAAATTCCCCAGTGATTTCCCCCCTCACCCCTACCTATGATTCTAATAATGCAACCAGCGTTGAGAAGGCTTACTAAAAACAGATTGCCAGGCCCCACATCCAAAGTTTCTGATTCAGCAGATCAGCATAGGAGCTGAGAATGTGAATTTTTACCAAGTTCCCAAGTATTGCTGATGCTGCTGGTCTGAGACCTTACTTAGAGAACCTCTGTTTTAGAGAAATTAATCTCACAAATAGAAGCTTATGATCCAGAAAGTAGAAGTCATACTGGTGATCCCATTTTAAGGATCATTAGGCCAATTTGTAAGGAAATACCAATTACAAAAGGGTCACAACATCTAAGTTACCCTTACTGTCTTCAAGGGGACAGAATATGCAGAATAGAAAGGAGATCCTGTGTGATGGAGTTAGTATTTTATTTTTATTGACTGATTGACACAGGGTCTTTCTCTGTCACCCAGGAGTGCAGTGGCGCAATCAGAGCTCACTGTAGCCCCAACTTCCTGGGCTTGAGCCACCCTCCTGCCTCAGCGTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACGCAGCCAGAATTGCTATTTAGAAAACAGGTCTATAAGGAAATCTTGATCAGAACTATTATGAACTTTTAAAATCCACACTCCATCAGGCTTCCCTACACACCTCTCACTCTCATCAGCAGCTTTTTCAGCTTCTTCCAGCTTTTGCAGGGCAGTGGCCAGGCGCTCCTGAGCACGGTCCAGCTCTTCTTCAACCAGCTGGATCCTACAGTTCAAGGAGGCCACCTCAGCCTCAGCCTGCATTTGAAGGAAAGAATGGACAAGGGAAGCAGAGGCATGGAGAAAAGAAGAAATAACTATGACATTAAGATCAGGGTTGACTACCATGAAAAAGCCAGAGTCTCGCAGGGTAGAACTTGTCTTAGCTCAGCTGTTAAAAGATCTAGCAGACATAACTTTATATATATATATTTCCTCCCTTTCCCATCAACGAACTCCCATATGTTCCACAGGAAGAGTGTTTTAAAACTCAGTTCCTTGCCCAGCCCAGTGAGTTAGTACCACCCACTTCCTGGACTCAGTTCAAATTCCTCAACACACTGGAGTCAGAAAAGAAAGTCAATGAAGGGTTCCTTCTGCCTGAGCTCTGGCTTGGAGGCATGTCTCATCCTCAGTAACCTTTCAAGTGTCTCATAAAGCAGGAAAAAAAAAAAAAAAAAAGCAAGGTTTCTTAAAGAGGGTATCCTGACTGGGTGTGGTGGCTCATGCCTGTAATCCCAGTATTCTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGACTCTAATAAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTACCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCCCTTGAACCCGGGAGGCAGAGGTTGTACTGAGCTGAGATTGCGCCACTACACTCCAGCCTGGGCAACACGGTGAAACTCCATTTCAAAAAAAAAAAAAAAAAAAGAGGGAATCCTGGATTACCTATTAATTGCTGCTTAACTCAAACCGTTATTCCTATGATCACTTTACCCTAACACATCAGAAGAATAACTAGCCAAGGGAATGTCTTCCAGAATAGCCTTCCAGACTGGAAAGCAAAAGAATGGAATATTGTTGGGATGCCTACTCACCAGCCCTTCAACTTGTGCCCCCGTACTCCTTTTTTAAGTTGGCTACAAGGAGCTGCTTCTGGCTAAAATTATCTGCTTTGATAGCTTTACAAAAAAGAAAGAACATTTCCACCACACCCACTACCATTCCTCCAAATTTCTGAATTTTCTCCTTTCTATTCCTCCAGCCATCCCCTTAGCTTCACCCTCTAATACAGCGACAATCTTCCCCCTGGCCTCCATCTCACAATGAAGTATATAGGTTAGAGTCCAAGTAAACCCATCCTGGATGGGTTTTCTCTAAGAAACAAGGAAAGAAGGAGGCAGCCTGCAGGTGGATGGATAAATTCTAATGGTAGGAAAACCTCTTTCCATGACTGCCTCCCCGCTACCTTTACTGGTGGGAGGTACCCTGACTGCAACAGTATACAAGAATTTAATATGCCCCGCACACCACCCAGTTCAGATGCTTATCCAAGTGCCTGGTAAACACGATCTCTCTTCTATAGCCCAGATTGTGCCTGAATTCTATTACCCTGATTTCTTCCTGGCAGGCAGGAGTTGGTGCAGCTATAGAAACAGCCTGGGCCACTAGCTCCGATGAGGAAGAATATAGACCAAAAGACTCCTTTTTAACCATCAGGACTGGCACAAAAACTTCCACATACAAACATGAGAAGCTGAAGAGACTAGGAAGGGAAGCAGAGGGCTGGGGCTACAATCTAGCCACCAGGCAAAGAAAATCGAGAAGTCAACATAAGCTGAAATCATTAAGAAACCATTTGTGCCTCTAACTACACTACTCAAAACACCACAAAGACAAGTATTCTCTGCTTCTGCCTCTTCCAGAAAAATAGATGTTCTCTGTAACAACACACATTTCTCCTCACAAACCCAACAAGGCCATGGATCAAGAGCAAGTCAGGCTATCAGGCAAGACCTAGGAGACACTGCTAGTAAAATGACTTACCCCCCTCAGACGAAAAATACAACTAGATTTAGAGGAAGCTCATGAAATGTAAGACATCATGCAGCTCACCAGTAGTTACCCAAACTGGAGTAGAAGATAACAGGCTATGGGGCGGGGGTGTACAGTTGCCATGACAGCAAGCTGGCTCAGGCAGT
Task1_train_1572
Gene TPM3 (tropomyosin 3) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Congenital myopathy with fiber type disproportion
AAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCTATAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGAGAACTTTAAAAACATCAATGCCCAGACCCCTCTTGCAACTGATTCTAATGGAACTGGGATGAGATCTAAGCATCCAGTTTTAAATTCCCCAGTGATTTCCCCCCTCACCCCTACCTATGATTCTAATAATGCAACCAGCGTTGAGAAGGCTTACTAAAAACAGATTGCCAGGCCCCACATCCAAAGTTTCTGATTCAGCAGATCAGCATAGGAGCTGAGAATGTGAATTTTTACCAAGTTCCCAAGTATTGCTGATGCTGCTGGTCTGAGACCTTACTTAGAGAACCTCTGTTTTAGAGAAATTAATCTCACAAATAGAAGCTTATGATCCAGAAAGTAGAAGTCATACTGGTGATCCCATTTTAAGGATCATTAGGCCAATTTGTAAGGAAATACCAATTACAAAAGGGTCACAACATCTAAGTTACCCTTACTGTCTTCAAGGGGACAGAATATGCAGAATAGAAAGGAGATCCTGTGTGATGGAGTTAGTATTTTATTTTTATTGACTGATTGACACAGGGTCTTTCTCTGTCACCCAGGAGTGCAGTGGCGCAATCAGAGCTCACTGTAGCCCCAACTTCCTGGGCTTGAGCCACCCTCCTGCCTCAGCGTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACGCAGCCAGAATTGCTATTTAGAAAACAGGTCTATAAGGAAATCTTGATCAGAACTATTATGAACTTTTAAAATCCACACTCCATCAGGCTTCCCTACACACCTCTCACTCTCATCAGCAGCTTTTTCAGCTTCTTCCAGCTTTTGCAGGGCAGTGGCCAGGCGCTCCTGAGCACGGTCCAGCTCTTCTTCAACCAGCTGGATCCTACGGTTCAAGGAGGCCACCTCAGCCTCAGCCTGCATTTGAAGGAAAGAATGGACAAGGGAAGCAGAGGCATGGAGAAAAGAAGAAATAACTATGACATTAAGATCAGGGTTGACTACCATGAAAAAGCCAGAGTCTCGCAGGGTAGAACTTGTCTTAGCTCAGCTGTTAAAAGATCTAGCAGACATAACTTTATATATATATATTTCCTCCCTTTCCCATCAACGAACTCCCATATGTTCCACAGGAAGAGTGTTTTAAAACTCAGTTCCTTGCCCAGCCCAGTGAGTTAGTACCACCCACTTCCTGGACTCAGTTCAAATTCCTCAACACACTGGAGTCAGAAAAGAAAGTCAATGAAGGGTTCCTTCTGCCTGAGCTCTGGCTTGGAGGCATGTCTCATCCTCAGTAACCTTTCAAGTGTCTCATAAAGCAGGAAAAAAAAAAAAAAAAAAGCAAGGTTTCTTAAAGAGGGTATCCTGACTGGGTGTGGTGGCTCATGCCTGTAATCCCAGTATTCTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGACTCTAATAAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTACCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCCCTTGAACCCGGGAGGCAGAGGTTGTACTGAGCTGAGATTGCGCCACTACACTCCAGCCTGGGCAACACGGTGAAACTCCATTTCAAAAAAAAAAAAAAAAAAAGAGGGAATCCTGGATTACCTATTAATTGCTGCTTAACTCAAACCGTTATTCCTATGATCACTTTACCCTAACACATCAGAAGAATAACTAGCCAAGGGAATGTCTTCCAGAATAGCCTTCCAGACTGGAAAGCAAAAGAATGGAATATTGTTGGGATGCCTACTCACCAGCCCTTCAACTTGTGCCCCCGTACTCCTTTTTTAAGTTGGCTACAAGGAGCTGCTTCTGGCTAAAATTATCTGCTTTGATAGCTTTACAAAAAAGAAAGAACATTTCCACCACACCCACTACCATTCCTCCAAATTTCTGAATTTTCTCCTTTCTATTCCTCCAGCCATCCCCTTAGCTTCACCCTCTAATACAGCGACAATCTTCCCCCTGGCCTCCATCTCACAATGAAGTATATAGGTTAGAGTCCAAGTAAACCCATCCTGGATGGGTTTTCTCTAAGAAACAAGGAAAGAAGGAGGCAGCCTGCAGGTGGATGGATAAATTCTAATGGTAGGAAAACCTCTTTCCATGACTGCCTCCCCGCTACCTTTACTGGTGGGAGGTACCCTGACTGCAACAGTATACAAGAATTTAATATGCCCCGCACACCACCCAGTTCAGATGCTTATCCAAGTGCCTGGTAAACACGATCTCTCTTCTATAGCCCAGATTGTGCCTGAATTCTATTACCCTGATTTCTTCCTGGCAGGCAGGAGTTGGTGCAGCTATAGAAACAGCCTGGGCCACTAGCTCCGATGAGGAAGAATATAGACCAAAAGACTCCTTTTTAACCATCAGGACTGGCACAAAAACTTCCACATACAAACATGAGAAGCTGAAGAGACTAGGAAGGGAAGCAGAGGGCTGGGGCTACAATCTAGCCACCAGGCAAAGAAAATCGAGAAGTCAACATAAGCTGAAATCATTAAGAAACCATTTGTGCCTCTAACTACACTACTCAAAACACCACAAAGACAAGTATTCTCTGCTTCTGCCTCTTCCAGAAAAATAGATGTTCTCTGTAACAACACACATTTCTCCTCACAAACCCAACAAGGCCATGGATCAAGAGCAAGTCAGGCTATCAGGCAAGACCTAGGAGACACTGCTAGTAAAATGACTTACCCCCCTCAGACGAAAAATACAACTAGATTTAGAGGAAGCTCATGAAATGTAAGACATCATGCAGCTCACCAGTAGTTACCCAAACTGGAGTAGAAGATAACAGGCTATGGGGCGGGGGTGTACAGTTGCCATGACAGCAAGCTGGCTCAGGCAGT
AAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCTATAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGAGAACTTTAAAAACATCAATGCCCAGACCCCTCTTGCAACTGATTCTAATGGAACTGGGATGAGATCTAAGCATCCAGTTTTAAATTCCCCAGTGATTTCCCCCCTCACCCCTACCTATGATTCTAATAATGCAACCAGCGTTGAGAAGGCTTACTAAAAACAGATTGCCAGGCCCCACATCCAAAGTTTCTGATTCAGCAGATCAGCATAGGAGCTGAGAATGTGAATTTTTACCAAGTTCCCAAGTATTGCTGATGCTGCTGGTCTGAGACCTTACTTAGAGAACCTCTGTTTTAGAGAAATTAATCTCACAAATAGAAGCTTATGATCCAGAAAGTAGAAGTCATACTGGTGATCCCATTTTAAGGATCATTAGGCCAATTTGTAAGGAAATACCAATTACAAAAGGGTCACAACATCTAAGTTACCCTTACTGTCTTCAAGGGGACAGAATATGCAGAATAGAAAGGAGATCCTGTGTGATGGAGTTAGTATTTTATTTTTATTGACTGATTGACACAGGGTCTTTCTCTGTCACCCAGGAGTGCAGTGGCGCAATCAGAGCTCACTGTAGCCCCAACTTCCTGGGCTTGAGCCACCCTCCTGCCTCAGCGTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACGCAGCCAGAATTGCTATTTAGAAAACAGGTCTATAAGGAAATCTTGATCAGAACTATTATGAACTTTTAAAATCCACACTCCATCAGGCTTCCCTACACACCTCTCACTCTCATCAGCAGCTTTTTCAGCTTCTTCCAGCTTTTGCAGGGCAGTGGCCAGGCGCTCCTGAGCACGGTCCAGCTCTTCTTCAACCAGCTGGATCCTACAGTTCAAGGAGGCCACCTCAGCCTCAGCCTGCATTTGAAGGAAAGAATGGACAAGGGAAGCAGAGGCATGGAGAAAAGAAGAAATAACTATGACATTAAGATCAGGGTTGACTACCATGAAAAAGCCAGAGTCTCGCAGGGTAGAACTTGTCTTAGCTCAGCTGTTAAAAGATCTAGCAGACATAACTTTATATATATATATTTCCTCCCTTTCCCATCAACGAACTCCCATATGTTCCACAGGAAGAGTGTTTTAAAACTCAGTTCCTTGCCCAGCCCAGTGAGTTAGTACCACCCACTTCCTGGACTCAGTTCAAATTCCTCAACACACTGGAGTCAGAAAAGAAAGTCAATGAAGGGTTCCTTCTGCCTGAGCTCTGGCTTGGAGGCATGTCTCATCCTCAGTAACCTTTCAAGTGTCTCATAAAGCAGGAAAAAAAAAAAAAAAAAAGCAAGGTTTCTTAAAGAGGGTATCCTGACTGGGTGTGGTGGCTCATGCCTGTAATCCCAGTATTCTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGACTCTAATAAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTACCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCCCTTGAACCCGGGAGGCAGAGGTTGTACTGAGCTGAGATTGCGCCACTACACTCCAGCCTGGGCAACACGGTGAAACTCCATTTCAAAAAAAAAAAAAAAAAAAGAGGGAATCCTGGATTACCTATTAATTGCTGCTTAACTCAAACCGTTATTCCTATGATCACTTTACCCTAACACATCAGAAGAATAACTAGCCAAGGGAATGTCTTCCAGAATAGCCTTCCAGACTGGAAAGCAAAAGAATGGAATATTGTTGGGATGCCTACTCACCAGCCCTTCAACTTGTGCCCCCGTACTCCTTTTTTAAGTTGGCTACAAGGAGCTGCTTCTGGCTAAAATTATCTGCTTTGATAGCTTTACAAAAAAGAAAGAACATTTCCACCACACCCACTACCATTCCTCCAAATTTCTGAATTTTCTCCTTTCTATTCCTCCAGCCATCCCCTTAGCTTCACCCTCTAATACAGCGACAATCTTCCCCCTGGCCTCCATCTCACAATGAAGTATATAGGTTAGAGTCCAAGTAAACCCATCCTGGATGGGTTTTCTCTAAGAAACAAGGAAAGAAGGAGGCAGCCTGCAGGTGGATGGATAAATTCTAATGGTAGGAAAACCTCTTTCCATGACTGCCTCCCCGCTACCTTTACTGGTGGGAGGTACCCTGACTGCAACAGTATACAAGAATTTAATATGCCCCGCACACCACCCAGTTCAGATGCTTATCCAAGTGCCTGGTAAACACGATCTCTCTTCTATAGCCCAGATTGTGCCTGAATTCTATTACCCTGATTTCTTCCTGGCAGGCAGGAGTTGGTGCAGCTATAGAAACAGCCTGGGCCACTAGCTCCGATGAGGAAGAATATAGACCAAAAGACTCCTTTTTAACCATCAGGACTGGCACAAAAACTTCCACATACAAACATGAGAAGCTGAAGAGACTAGGAAGGGAAGCAGAGGGCTGGGGCTACAATCTAGCCACCAGGCAAAGAAAATCGAGAAGTCAACATAAGCTGAAATCATTAAGAAACCATTTGTGCCTCTAACTACACTACTCAAAACACCACAAAGACAAGTATTCTCTGCTTCTGCCTCTTCCAGAAAAATAGATGTTCTCTGTAACAACACACATTTCTCCTCACAAACCCAACAAGGCCATGGATCAAGAGCAAGTCAGGCTATCAGGCAAGACCTAGGAGACACTGCTAGTAAAATGACTTACCCCCCTCAGACGAAAAATACAACTAGATTTAGAGGAAGCTCATGAAATGTAAGACATCATGCAGCTCACCAGTAGTTACCCAAACTGGAGTAGAAGATAACAGGCTATGGGGCGGGGGTGTACAGTTGCCATGACAGCAAGCTGGCTCAGGCAGT
Task1_train_1573
Here’s a variant in TPM3 (tropomyosin 3) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Congenital myopathy 4A, autosomal dominant
ATTGACTTATTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTAGAGTGCAGTGGTACGATCTCGGCTCCATGCAGCCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCCAAATATGATTTTAAATATTACATGCTCCTTTTTTCCTATTAACTCAGTTCACTGAGAAACTTGTTTCCACCAATACTGGGACATTTCTGTTGTTGTTGGTAAGATTCCTATGGTACTTTTCTTCTAAAAAACTTTTCAATCTACTCTCTCATTTATCTTTGCAGCAAACTTCAAGGTTAAAGATGAAGGAAAGTAGGTGATGATGATGGGATAATATGAGATGGAAAAGAGAATTTATTTTATTTGAGAATGGGAAAATTCAGCCCTAGACAAGCTGAGTAATTACTCACGGTCATAGAGTGAAGTCTGGTGGTGATACCTTTACCCCCTAAGATTCTTTCTTAGTTTCTATTATACTCTGTCACTGTAGGGATCTCTCTGCTGCCCTAGGAGCAATGCTTCATATGGCATCTCCATGGCATAAAGGCAAATGCCTGCATTGGCCAAGATAAATAAACCCATATATGGCCAGGGTCAGTGTGACCTCCATTTCCCATTGTGAAATCCGAGCTGGTTTTGTTGGACAGTTGAGAGATGAGAGGTTCCCTATTAATACACATATCCACATGCCAAGACTTGGACATAAAAGCTAAGAATGTGGCATGGGGGAGGAGGTAGGATAAGTGACAGCATTCTGAACTTAGAGTCCCCTCTCTTTGTCCAGGTCCTGGGAAAGATAATTAAATTCCTGGGTTGGTGATAGGAGATAAATGAGACCTTTACATGTATTAAAAAAAAACTTTTAACATGTTGGAGATGTCTTTAAGAAAGAAAATACATGCCATTATGAGAATATACCAGCATGTGGTTATATGCAAAAATGTATGTGAGTATATATGTCTGTGTTCCATGAACCCACAAGTGTGTTTGGAATTTCGTCATACATTAACATAAAGATCTATATGTGTAGATTAAACCCATCCTCCATCTCTCTAATACTCACATCAGCAGCCTTCTTCTCTGCCAGTTCCAGCTTCTCCTGGGCATCCTTCAAAGCTTCAGAATACTTGTCCAGCTCATCCTCTGTCCCTTTCAGCTTCTTCTGCATGGCTGCCAGCTCATCCTCCAGCTATAGGAGCCCAGAGAGTCACACACAAAAACACACAAACACAACAATGCAGGGTTGGACCCTGGGCTCTTGGAGCCCTGAGTGTAACCTCCATGTTACCATCCCTAGTGAGACACACTTTCTCCCCAGCCACTTCCAGCCCACTGCCTCAGGAGTTATGCCGTAGCTTGGCCTGTGACCCTGTAATCTCTGATCCTAAGATGACCAAGCCATCCTGGGTTTTCATCCAAGACCCCTGGATGATAAATATCTAAAGTGTAGATGCCCGTGATGCTATTTGAGTGAAAAGAGATGCTCTTTCCCTCTAGAACTCTTACCTTTTCCTCTAGAAGTCAAGGGTTCTTCCAAAACATGGTCCATTTCTACTTAAATTCAGCAGACATACTGTGGCTCACTGACTTTCCCAAGGTCACAAAGGCAGTCTGAGACAGATATGTTAGATATCCTCTGCTCCTCCAGTGAGGCTGGGGAGTCCATCCCACCCCCAAAAAGGAGGTGACACCAGTAGTCACTGTCTTTCCCATGAAAACTCCCTTCCATTTCACAGTCTTGTTCACTAGCAGATGAGAGAGATCAATGCCAGTGCCTACCTGTTTACTTCTTTCTTCTGCCTGCTTCTGCTCAGCTTCAGCTTGCTCTGCCCGATCCAGAGCATTCTCCTTGTCTAACTTCAGCATCTGCATCTTTTTCTTGATGGCCTCCATCATGAGCAGTGGCTGTTGGTAGGCTCACCTGTGAACACTGGAGAACTGGAGACTGGGGCAAGAAAGAAGGGGCTGCTGCCTGAGTGACCAGGAGGTCCCCAGACTTGAGTCTTTATCTGTGCTCATAGCTCCACCTTTTGTTCCTAATATGGTCTTTCCAGCTCCCTCCACCCCATCATTGTTCTCCTGGGGGAACACAGGGTGAGACGCTTTGATGAACTGACATCACCAGCAAAAAAAATATCTAGCAACAGCTGAGGCTGATTTTAGACAATGGAAAGTGGGGGAGGGAAGAGGTTCTCCCTGACCCTGAAACTTTCCACTCATTCTGGGCAGCTCTATGGATGTTTTAAAAGAAGAGGAAGAGGGGAGGGAAGAACATTGAAATAGAGAAGTGTACTTTGGCAATTCTAGGTTGGCAGTTTGCATCCAGGGGGTCCTGGTTGCCTTTCAGCTTCCCGTTTCACTCTCCCCCAGACTGTGTTGAATGCTGGTCAAACTCCGTTAGTTGAGTTTTAGCTTTTGATTCCTGGTATTCAAGGAGCTTGGGCACAGGGAAGAGGGGAGGTCACTCATGATCCTTAACAATTCTCCCAGATCCCCAGATCAAATTGCTGTGCTATTCTGGGAGTCTCCGATTGGCAGGGAGACGTTTTTCCTCCCCACCAAGAGCCACAAGAGTAGAGTAAGAGGTAGGGTTGGAATCTCCAACCCTATCCTTGAAGGCTATCCCAGAGCTTCAAGTGGGGTGGGGAGAGAAACAGGGGAGGGTCAGAACAATCCAGACAGGATCATACCCTTTGTTTTCCCACAGTAATCTTAAAATAGAACTGTTGTACCCACACAGACTTTGGTCTGTGTGGCTCTCTCCTCTTCTTCCCTTTATCTTCTCCCTTCTTAATTCTCCCCAACGCTGCCACTCACCACATCATCGTAATCATCATTATCAGCTCTATTCTTTCCAGTTTAGTTCCAGACCATGTTTATTCTTCCATTGGGAGCCTTGTTACTAACAGGTGGCAAGGATACCAGTCCACTGGCACCATACACCTGAAAATATGCCAAGGGAGAGGTGGGCACTGTTCAAGGTGACCAGATATATTGGACAAATATAAATGGCTCTAGTTAGTCATTTATGTCAGGATACTGAGAGTTAATGCTAAGCCCCAGCAATGGGGGAACGGAGACACCCACCAGGCCAGTGGGTAGAGCAGAGCTGGAGTCCACTATTGAGAGCTTCCAGTCACTAGAGGTAGATAGGCAGATAGACCATCAGCTGACTCTCGACAGAGAGAGGAGAAACCAAGTCTCCTTTCTCTGGAGATTAGCCAGGGAAAGGGGTTAGGGAACAGGGAGAGGAAGGAGTGGAAAATGGGGGGGGGGTGGGCAAGTGAATAAGGGGGAGAAAAATACGAGGACAAGAAAAGGCAAAGAAATGTCCCTTCTAGTATAAGGGGACAAGAAATAGAAAGATTCTATCCTCAAATTCCAACTCTCTCCCATTCCCACACCAGCCCTCTTAGGTTAAGATTGAAATGCACATAGGTTGCAGCTACTGGACTTTTGGGGGGGTCCTGGAGAGAAGAGGTTCAGTAAAAGAGACAGGAGCCCCAGAGATTGAAGTATGAAAGAGGGTGGTGCTGAATCACCTGCTGCTGTAAGAATATGTTTGACATTTAGTTGGTTCCTAATTAAACAACCCAATATCAAACATATCACACAGAAGCAGGCAGGAGAGCTTTGGGGGTCATCTGCCTTCCTTCCAGTTGCAAAGAAAGAATAGAGCAGACACCAGGCACCAATCATGTCTAGGTGGAGAGCCATCTCCTTGAGGAAGGGTACTGGCTCCTGCTCTTCACCTCCCAAGACAGCCAGCTCTTGCTTATTGTCCTACGTGTCATCCCTGCCTCAGCTCCTCCTCTACAAGCTCCTGGCCTTTGCTGGATCACGTTGGCCTAAACCAGGAAGAATACCTGGCAGGGCTCCACATCCGGGCAACTATCGTTCCCTAGAGCTCCCACACAG
ATTGACTTATTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTAGAGTGCAGTGGTACGATCTCGGCTCCATGCAGCCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCCAAATATGATTTTAAATATTACATGCTCCTTTTTTCCTATTAACTCAGTTCACTGAGAAACTTGTTTCCACCAATACTGGGACATTTCTGTTGTTGTTGGTAAGATTCCTATGGTACTTTTCTTCTAAAAAACTTTTCAATCTACTCTCTCATTTATCTTTGCAGCAAACTTCAAGGTTAAAGATGAAGGAAAGTAGGTGATGATGATGGGATAATATGAGATGGAAAAGAGAATTTATTTTATTTGAGAATGGGAAAATTCAGCCCTAGACAAGCTGAGTAATTACTCACGGTCATAGAGTGAAGTCTGGTGGTGATACCTTTACCCCCTAAGATTCTTTCTTAGTTTCTATTATACTCTGTCACTGTAGGGATCTCTCTGCTGCCCTAGGAGCAATGCTTCATATGGCATCTCCATGGCATAAAGGCAAATGCCTGCATTGGCCAAGATAAATAAACCCATATATGGCCAGGGTCAGTGTGACCTCCATTTCCCATTGTGAAATCCGAGCTGGTTTTGTTGGACAGTTGAGAGATGAGAGGTTCCCTATTAATACACATATCCACATGCCAAGACTTGGACATAAAAGCTAAGAATGTGGCATGGGGGAGGAGGTAGGATAAGTGACAGCATTCTGAACTTAGAGTCCCCTCTCTTTGTCCAGGTCCTGGGAAAGATAATTAAATTCCTGGGTTGGTGATAGGAGATAAATGAGACCTTTACATGTATTAAAAAAAAACTTTTAACATGTTGGAGATGTCTTTAAGAAAGAAAATACATGCCATTATGAGAATATACCAGCATGTGGTTATATGCAAAAATGTATGTGAGTATATATGTCTGTGTTCCATGAACCCACAAGTGTGTTTGGAATTTCGTCATACATTAACATAAAGATCTATATGTGTAGATTAAACCCATCCTCCATCTCTCTAATACTCACATCAGCAGCCTTCTTCTCTGCCAGTTCCAGCTTCTCCTGGGCATCCTTCAAAGCTTCAGAATACTTGTCCAGCTCATCCTCTGTCCCTTTCAGCTTCTTCTGCATGGCTGCCAGCTCATCCTCCAGCTATAGGAGCCCAGAGAGTCACACACAAAAACACACAAACACAACAATGCAGGGTTGGACCCTGGGCTCTTGGAGCCCTGAGTGTAACCTCCATGTTACCATCCCTAGTGAGACACACTTTCTCCCCAGCCACTTCCAGCCCACTGCCTCAGGAGTTATGCCGTAGCTTGGCCTGTGACCCTGTAATCTCTGATCCTAAGATGACCAAGCCATCCTGGGTTTTCATCCAAGACCCCTGGATGATAAATATCTAAAGTGTAGATGCCCGTGATGCTATTTGAGTGAAAAGAGATGCTCTTTCCCTCTAGAACTCTTACCTTTTCCTCTAGAAGTCAAGGGTTCTTCCAAAACATGGTCCATTTCTACTTAAATTCAGCAGACATACTGTGGCTCACTGACTTTCCCAAGGTCACAAAGGCAGTCTGAGACAGATATGTTAGATATCCTCTGCTCCTCCAGTGAGGCTGGGGAGTCCATCCCACCCCCAAAAAGGAGGTGACACCAGTAGTCACTGTCTTTCCCATGAAAACTCCCTTCCATTTCACAGTCTTGTTCACTAGCAGATGAGAGAGATCAATGCCAGTGCCTACCTGTTTACTTCTTTCTTCTGCCTGCTTCTGCTCAGCTTCAGCTTGCTCTGCCCGATCCAGAGCATTCTCCTTGTCTAACTTCAGCATCTGCCTCTTTTTCTTGATGGCCTCCATCATGAGCAGTGGCTGTTGGTAGGCTCACCTGTGAACACTGGAGAACTGGAGACTGGGGCAAGAAAGAAGGGGCTGCTGCCTGAGTGACCAGGAGGTCCCCAGACTTGAGTCTTTATCTGTGCTCATAGCTCCACCTTTTGTTCCTAATATGGTCTTTCCAGCTCCCTCCACCCCATCATTGTTCTCCTGGGGGAACACAGGGTGAGACGCTTTGATGAACTGACATCACCAGCAAAAAAAATATCTAGCAACAGCTGAGGCTGATTTTAGACAATGGAAAGTGGGGGAGGGAAGAGGTTCTCCCTGACCCTGAAACTTTCCACTCATTCTGGGCAGCTCTATGGATGTTTTAAAAGAAGAGGAAGAGGGGAGGGAAGAACATTGAAATAGAGAAGTGTACTTTGGCAATTCTAGGTTGGCAGTTTGCATCCAGGGGGTCCTGGTTGCCTTTCAGCTTCCCGTTTCACTCTCCCCCAGACTGTGTTGAATGCTGGTCAAACTCCGTTAGTTGAGTTTTAGCTTTTGATTCCTGGTATTCAAGGAGCTTGGGCACAGGGAAGAGGGGAGGTCACTCATGATCCTTAACAATTCTCCCAGATCCCCAGATCAAATTGCTGTGCTATTCTGGGAGTCTCCGATTGGCAGGGAGACGTTTTTCCTCCCCACCAAGAGCCACAAGAGTAGAGTAAGAGGTAGGGTTGGAATCTCCAACCCTATCCTTGAAGGCTATCCCAGAGCTTCAAGTGGGGTGGGGAGAGAAACAGGGGAGGGTCAGAACAATCCAGACAGGATCATACCCTTTGTTTTCCCACAGTAATCTTAAAATAGAACTGTTGTACCCACACAGACTTTGGTCTGTGTGGCTCTCTCCTCTTCTTCCCTTTATCTTCTCCCTTCTTAATTCTCCCCAACGCTGCCACTCACCACATCATCGTAATCATCATTATCAGCTCTATTCTTTCCAGTTTAGTTCCAGACCATGTTTATTCTTCCATTGGGAGCCTTGTTACTAACAGGTGGCAAGGATACCAGTCCACTGGCACCATACACCTGAAAATATGCCAAGGGAGAGGTGGGCACTGTTCAAGGTGACCAGATATATTGGACAAATATAAATGGCTCTAGTTAGTCATTTATGTCAGGATACTGAGAGTTAATGCTAAGCCCCAGCAATGGGGGAACGGAGACACCCACCAGGCCAGTGGGTAGAGCAGAGCTGGAGTCCACTATTGAGAGCTTCCAGTCACTAGAGGTAGATAGGCAGATAGACCATCAGCTGACTCTCGACAGAGAGAGGAGAAACCAAGTCTCCTTTCTCTGGAGATTAGCCAGGGAAAGGGGTTAGGGAACAGGGAGAGGAAGGAGTGGAAAATGGGGGGGGGGTGGGCAAGTGAATAAGGGGGAGAAAAATACGAGGACAAGAAAAGGCAAAGAAATGTCCCTTCTAGTATAAGGGGACAAGAAATAGAAAGATTCTATCCTCAAATTCCAACTCTCTCCCATTCCCACACCAGCCCTCTTAGGTTAAGATTGAAATGCACATAGGTTGCAGCTACTGGACTTTTGGGGGGGTCCTGGAGAGAAGAGGTTCAGTAAAAGAGACAGGAGCCCCAGAGATTGAAGTATGAAAGAGGGTGGTGCTGAATCACCTGCTGCTGTAAGAATATGTTTGACATTTAGTTGGTTCCTAATTAAACAACCCAATATCAAACATATCACACAGAAGCAGGCAGGAGAGCTTTGGGGGTCATCTGCCTTCCTTCCAGTTGCAAAGAAAGAATAGAGCAGACACCAGGCACCAATCATGTCTAGGTGGAGAGCCATCTCCTTGAGGAAGGGTACTGGCTCCTGCTCTTCACCTCCCAAGACAGCCAGCTCTTGCTTATTGTCCTACGTGTCATCCCTGCCTCAGCTCCTCCTCTACAAGCTCCTGGCCTTTGCTGGATCACGTTGGCCTAAACCAGGAAGAATACCTGGCAGGGCTCCACATCCGGGCAACTATCGTTCCCTAGAGCTCCCACACAG
Task1_train_1574
This alteration occurs within gene IL6R (interleukin 6 receptor) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Hyper-IgE recurrent infection syndrome 5, autosomal recessive
GAACTCCTGACCTCATGATCTGCCTGCGTTGCCCTCCCAAAGTGCTAGAATTACAGGCGTGAGCCACCGCGCCCGGCCTTATTTCTCAGTCTTAACAGAACCAGCCACGTGTGATTGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGCAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTTGCTGGGCACGCTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGGAGGCGGAGGTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCTATCACAAAAACAAAACAAAACAAAAACTTAACCCCTACTAGGTAAGTAGTATTAATATTCCTATTTTCAAATGAGAAAAGGAGACTTAGAGGCACAGGGCTTATAAGTCTGGAGCTGGGATTCAAACCCCGGGATTCCACTTCCCCCTTCTGTCCCGTCTTGAGTCTGTGCGAAACTGACAGGCAAGCCCTGCCCTTGTTTTGTGTCTAACAGTCAGAACAGTCCGGCCGAAGACTTCCAGGAGCCGTGCCAGTATTCCCAGGAGTCCCAGAAGTTCTCCTGCCAGTTAGCAGTCCCGGAGGGAGACAGCTCTTTCTACATAGTGTCCATGTGCGTCGCCAGTAGTGTCGGGAGCAAGTTCAGCAAAACTCAAACCTTTCAGGGTTGTGGAATCTGTACGTAAGCTCTAACCCCCTCTCCAGCAGTTTCCTTCTCTTTTGATTTAATACTCCTTATCGACTTCTCAGAGTGGCAGGGAAGGGGTGGTTGAGGGGTTTGGTGAGTTGGTGCCTTTTGGGCGTTGCTTGCCGGGAGGTGTGGCAATGATAAAGCAGGCCCTTGTGGAGCTGTGCATGGGGAGTGAACGGGGCTGGGTGGGGCCCTGCTTGCTGGGATCTCAGCCTACATGGGCTTCTCTACACTATATTTGGTGCTGCAAAGGAGTCATGCTCACTTTTCCCACAGTGCAGCCTGATCCGCCTGCCAACATCACAGTCACTGCCGTGGCCAGAAACCCCCGCTGGCTCAGTGTCACCTGGCAAGACCCCCACTCCTGGAACTCATCTTTCTACAGACTACGGTTTGAGCTCAGATATCGGGCTGAACGGTCAAAGACATTCACAACATGGATGGTAAATTTATGTTTTACTTCTGGTCAGAGAGGCGCCCCTAGATGCTTAGGCGTAGTAGAAAGGGTACTAGAGGCCAGGCATGGTGGCTCACGCCTGTAATCCCGGCCCTTTGGGAGGCCAAGGTGGGCGAATCACTTGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAATACCGTCTCTACTAAAATTACAAAAAATTAGCTGGGTGTGGTGGCGCACGCCTGTATCCCAGCTATTCGGGGGCTGAGACAGGAGAATCCCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCAGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTTAGACTCCATGTCAAAAAAAAAAAAAAATAGAAAGGGTACTAAAAGGAAAACCATAGGCTCTAGTTCCTGCTTCACAATTGGCTACCTTCGTTGCTTTGGATAAATGTTTTAAGCTTTCTGAGCCTTGGTGGTATATCATTTATTAAATGAAAAGGATAATGCCAGGCCAGTCTCCTCTTCCCGGGCTTGTCTGTGAGGAGAGCAATGTGGGAAGAGATTTGGGCTGTAGACATGTCAAGGGTTGTGGCTTGCAGGATTCTATAGTGCATGGGTGGGGCAGGGACTTTCTGCTTCAGCTTCCGTGGGCCCTGAGGGCAACCCCCTCTCTAGCAGAGCCTCTGGGGTTGTGGGAGCCTCTAGAGGCCTCTGCCAGCTGAAGCACAGGGCTGGCCAAGGCACCAACCCACTGGGGTGCTACCTGCCCAGCACCATCCTGGATACCTCCCCAGAGTCACCGTGCCCCCGCCCTCAGGTCAAGGACCTCCAGCATCACTGTGTCATCCACGACGCCTGGAGCGGCCTGAGGCACGTGGTGCAGCTTCGTGCCCAGGAGGAGTTCGGGCAAGGCGAGTGGAGCGAGTGGAGCCCGGAGGCCATGGGCACGCCTTGGACAGGTACTGCGGTGGGCACTGAGAAAGGAAGGGATGTTTCAACTGTCATTGCATCAGGTATCCATTGCTATGTGACAAGTTGCCTCAAAACTAGTGGCTTAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTGCCTGAGGTCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAAATTAGCTGGACATGGTGGCAGGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAAATCGCGCCACTGCACTCCAGCCTGGGTGATAAGAACGAAACTCCGTCTCAAAACAAACAACTAGTGGCTTAAAAACGACCATCATTTATCGGCTTGAAATTTCAAAAATACAGTCAGTTAGGCAGCTCTTCTGCTGGTCTTGCCTGAATCAGGAATGCAGCTGCCATCAGATTGGGATGGTCTGAGATGGCCTCAGTCACATGTCTGACGATGGTGCTGGCTGGTGGCCGAGGCCCTGGGTTCTCCCTGTGGCTTCTCATCCTCAGCTGCCAGCCCAGACTCAGGGCAGGCGGGTGGGGATCCCACCACAGCTGGAGGGATGCACTGCAGAGAAGTTAGCCGTATTTAATCTAGGGCTTTTTATTTTTTTCAAATGTTAAAGGTAGTAATAATTGCCATTGGGGATTGTTGAAATTAGAGCATGAAAAATTCCAGAAAGATATGAAGAATAATTATCACCAGTACTTTTACTCCCTAGAGAAAACCAGTGAGAACATGTTAGTATGCTGCTTTCCTTTTTCTAGGTACATGTATGTGTGTGTGTATTTATATATATAAATGTAATATTCCCCATGTTGTCAATTACTTTTGGAAACTTATTATTTAGTAACTGCCTGATTAATACATATATTTTAAAACTCCATGGAAATTTGTTGTTGTTGTTGTTGTTTTGTTTGTTTGTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGCTTTCCAGGTTCATGCCATTCTCCTGCCTCAGCCTGCCGAGCAGCCGGGACTACAGGCACCTGCCACCACGCCCAGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACTGTGCCCGGTCGGAAATTTTTTTTAACTTAAATTTTTTTTTTTTTGAAGACAGGCTTTCTCCTCGTTGCCCAGGATGGAGTACAGCAGTGCAATCACAGCTCACGGCAACTTCTGCCTCCTGGGTTCAAGCAATCCTCCCGCCTCAGCCTCCTAAGTAGCTGGGACCACAGGCGTGTGCCACAATGCTAATTTTTTAAAAATGTTTTGTAGAGACAGGGTTTCACCATGCTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCAGCCTCAGACTCCCAAAGTGCTGGGATTACTGGTGTGAGCCACTGCACCTGACTAAACTTTAAATTTTTTTTTTTAGACGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATATTGGCTCACTGCAAGCTCTGCCTCTTGGGTTCACGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCACGCCCGGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAAACTTTTAAAATTTTAATCAAATTAATAC
GAACTCCTGACCTCATGATCTGCCTGCGTTGCCCTCCCAAAGTGCTAGAATTACAGGCGTGAGCCACCGCGCCCGGCCTTATTTCTCAGTCTTAACAGAACCAGCCACGTGTGATTGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGCAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTTGCTGGGCACGCTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGGAGGCGGAGGTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCTATCACAAAAACAAAACAAAACAAAAACTTAACCCCTACTAGGTAAGTAGTATTAATATTCCTATTTTCAAATGAGAAAAGGAGACTTAGAGGCACAGGGCTTATAAGTCTGGAGCTGGGATTCAAACCCCGGGATTCCACTTCCCCCTTCTGTCCCGTCTTGAGTCTGTGCGAAACTGACAGGCAAGCCCTGCCCTTGTTTTGTGTCTAACAGTCAGAACAGTCCGGCCGAAGACTTCCAGGAGCCGTGCCAGTATTCCCAGGAGTCCCAGAAGTTCTCCTGCCAGTTAGCAGTCCCGGAGGGAGACAGCTCTTTCTACATAGTGTCCATGTGCGTCGCCAGTAGTGTCGGGAGCAAGTTCAGCAAAACTCAAACCTTTCAGGGTTGTGGAATCTGTACGTAAGCTCTAACCCCCTCTCCAGCAGTTTCCTTCTCTTTTGATTTAATACTCCTTATCGACTTCTCAGAGTGGCAGGGAAGGGGTGGTTGAGGGGTTTGGTGAGTTGGTGCCTTTTGGGCGTTGCTTGCCGGGAGGTGTGGCAATGATAAAGCAGGCCCTTGTGGAGCTGTGCATGGGGAGTGAACGGGGCTGGGTGGGGCCCTGCTTGCTGGGATCTCAGCCTACATGGGCTTCTCTACACTATATTTGGTGCTGCAAAGGAGTCATGCTCACTTTTCCCACAGTGCAGCCTGATCCGCCTGCCAACATCACAGTCACTGCCGTGGCCAGAAACCCCCGCTGGCTCAGTGTCACCTGGCAAGACCCCCACTCCTGGAACTCATCTTTCTACAGACTACGGTTTGAGCTCAGATATCGGGCTGAACGGTCAAAGACATTCACAACATGGATGGTAAATTTATGTTTTACTTCTGGTCAGAGAGGCGCCCCTAGATGCTTAGGCGTAGTAGAAAGGGTACTAGAGGCCAGGCATGGTGGCTCACGCCTGTAATCCCGGCCCTTTGGGAGGCCAAGGTGGGCGAATCACTTGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAATACCGTCTCTACTAAAATTACAAAAAATTAGCTGGGTGTGGTGGCGCACGCCTGTATCCCAGCTATTCGGGGGCTGAGACAGGAGAATCCCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCAGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTTAGACTCCATGTCAAAAAAAAAAAAAAATAGAAAGGGTACTAAAAGGAAAACCATAGGCTCTAGTTCCTGCTTCACAATTGGCTACCTTCGTTGCTTTGGATAAATGTTTTAAGCTTTCTGAGCCTTGGTGGTATATCATTTATTAAATGAAAAGGATAATGCCAGGCCAGTCTCCTCTTCCCGGGCTTGTCTGTGAGGAGAGCAATGTGGGAAGAGATTTGGGCTGTAGACATGTCAAGGGTTGTGGCTTGCAGGATTCTATAGTGCATGGGTGGGGCAGGGACTTTCTGCTTCAGCTTCCGTGGGCCCTGAGGGCAACCCCCTCTCTAGCAGAGCCTCTGGGGTTGTGGGAGCCTCTAGAGGCCTCTGCCAGCTGAAGCACAGGGCTGGCCAAGGCACCAACCCACTGGGGTGCTACCTGCCCAGCACCATCCTGGATACCTCCCCAGAGTCACCGTGCCCCCGCCCTCAGGTCAAGGACCTCCAGCATCACTGTGTCAACCACGACGCCTGGAGCGGCCTGAGGCACGTGGTGCAGCTTCGTGCCCAGGAGGAGTTCGGGCAAGGCGAGTGGAGCGAGTGGAGCCCGGAGGCCATGGGCACGCCTTGGACAGGTACTGCGGTGGGCACTGAGAAAGGAAGGGATGTTTCAACTGTCATTGCATCAGGTATCCATTGCTATGTGACAAGTTGCCTCAAAACTAGTGGCTTAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTGCCTGAGGTCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAAATTAGCTGGACATGGTGGCAGGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAAATCGCGCCACTGCACTCCAGCCTGGGTGATAAGAACGAAACTCCGTCTCAAAACAAACAACTAGTGGCTTAAAAACGACCATCATTTATCGGCTTGAAATTTCAAAAATACAGTCAGTTAGGCAGCTCTTCTGCTGGTCTTGCCTGAATCAGGAATGCAGCTGCCATCAGATTGGGATGGTCTGAGATGGCCTCAGTCACATGTCTGACGATGGTGCTGGCTGGTGGCCGAGGCCCTGGGTTCTCCCTGTGGCTTCTCATCCTCAGCTGCCAGCCCAGACTCAGGGCAGGCGGGTGGGGATCCCACCACAGCTGGAGGGATGCACTGCAGAGAAGTTAGCCGTATTTAATCTAGGGCTTTTTATTTTTTTCAAATGTTAAAGGTAGTAATAATTGCCATTGGGGATTGTTGAAATTAGAGCATGAAAAATTCCAGAAAGATATGAAGAATAATTATCACCAGTACTTTTACTCCCTAGAGAAAACCAGTGAGAACATGTTAGTATGCTGCTTTCCTTTTTCTAGGTACATGTATGTGTGTGTGTATTTATATATATAAATGTAATATTCCCCATGTTGTCAATTACTTTTGGAAACTTATTATTTAGTAACTGCCTGATTAATACATATATTTTAAAACTCCATGGAAATTTGTTGTTGTTGTTGTTGTTTTGTTTGTTTGTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGCTTTCCAGGTTCATGCCATTCTCCTGCCTCAGCCTGCCGAGCAGCCGGGACTACAGGCACCTGCCACCACGCCCAGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACTGTGCCCGGTCGGAAATTTTTTTTAACTTAAATTTTTTTTTTTTTGAAGACAGGCTTTCTCCTCGTTGCCCAGGATGGAGTACAGCAGTGCAATCACAGCTCACGGCAACTTCTGCCTCCTGGGTTCAAGCAATCCTCCCGCCTCAGCCTCCTAAGTAGCTGGGACCACAGGCGTGTGCCACAATGCTAATTTTTTAAAAATGTTTTGTAGAGACAGGGTTTCACCATGCTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCAGCCTCAGACTCCCAAAGTGCTGGGATTACTGGTGTGAGCCACTGCACCTGACTAAACTTTAAATTTTTTTTTTTAGACGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATATTGGCTCACTGCAAGCTCTGCCTCTTGGGTTCACGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCACGCCCGGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAAACTTTTAAAATTTTAATCAAATTAATAC
Task1_train_1575
This genomic variant is located on Chromosome 1, within the CHRNB2 (cholinergic receptor nicotinic beta 2 subunit) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 3
CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCGTGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCATGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
Task1_train_1576
This variant lies on Chromosome 1 and affects the gene CHRNB2 (cholinergic receptor nicotinic beta 2 subunit). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 1
CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCGTGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCATGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
Task1_train_1577
This gene mutation involves CHRNB2 (cholinergic receptor nicotinic beta 2 subunit) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy
CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCGTGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCATGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
Task1_train_1578
Chromosome 1 houses a mutation in gene CHRNB2 (cholinergic receptor nicotinic beta 2 subunit). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Inborn genetic diseases
CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCGTGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCATGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
Task1_train_1579
This variant affects gene CHRNB2 (cholinergic receptor nicotinic beta 2 subunit) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 3
CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCGTGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCCTGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
Task1_train_1580
The gene ADAR (adenosine deaminase RNA specific) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Symmetrical dyschromatosis of extremities
CATCCTTAGTCTATTTTTAGAACTTGCATTTTCTTACTTTGGTCAATTTTTGGTCAAAAGTACAGAGAGCATAGAATAAAAGCAAAGATGTGAATGTCTCTACCAGACAGAGGATGACCTAGTCAGCAGTTTGGAGGGAAATCATCTGAGGGTGCTGGCTCAGCACGTTCCCAGATGAAGGTCTGTCATCTAAAGGAGAGAGGCAGGCTCAGCTCCTGAAGGTCGCAGAGCCTCAGTAGTCCTCCTGAGTGTGTCTAGCTGACTGTTATCGAGGGACACGTAAAAGCAGCATCACAAAACTGGACTGCAGCCATCACCACGGCACCAAGTCTATGCTTGGGCTCTTCCCTGCTCTGCTCTTGGAGTCATGACCAACACTCTAAAAGCCAACAAAGTCCCTTCAACATGAGTAAAGGAAACAGTTTCAAGCACTGACAGTTTTTACGAGTGACTATTCAAAGAATGCACAGGAGCCAGAGAGCCAGACTCCACAGAGAGGCCAAAGGCTCTGAACACACGAGTCAATGTTCATGGAGGTATAGACAAAGGATTCTACCTCACAGAGTTTGAAGACAACCTGCCCTTTCACCCACAACTACTGCTTTCTATGTCAACCCTATAAAGATCAGGTCTGCGCCCTGCCCACGAGCCTACTTCTGAAGCCATCTGGAAAAATGAAAGCACTTGGATAAATGGAAAAGTATGCCTGAATTTTAAATCTGCTCAATTACAGGTTATCTGTAGCAGTTAAGAATCAACATCTATGGCATTCTTTAAAACACTCCTAATTTACATGTGACTTAGTCAACTTCCCTTGGTGTCACTGTCATGAGAGATATTACACCGGGTGGAACAGTGACGTTAAGCCAACAGGATTTTTTGCCCTTATTCTTGCTAAGTCATGATTATCTGAGCAGAGATGATTTTATACCCTCTAGGATTTGTCCCGTTGGCTAGGGTGTACGCCCAGCATTGGCGGGGAAAATATTCCTAGGAATGCTTTAGGAGAAGAGGCAGCTGGAAGCTTGGCAATATTCCAAGGCATGCCCGTGCTCCCTGGGAAGTGGTCTGTGTCATCCTGCCGGGTGAAACCTCTGCTATTGCTTGAGCAGCTCCCTTAACCCAGTCTGGCTGGTTCTAGACTTCCCAGCTGCCGGAGAAAGTGATACACTTCCAGGGAAGCAGCTTTCCTTGCCTTGCCCGCCCTGCAGCTGGCTAAAGTGCAGGATGGGAGGATGGCTGGGCATTATCTGCAGGCTCCAATCACACTTCCGTGGCACTGGGAACTGCAGTTTTCAACTCCTACCCTTACAAATGTTTCACCAAATCCTTTATGTTCACCTCTTTGCCCTCTGAGGGGGAAAAGGAGACATTCAGATCACAAGGAAAGAATCTCAGAAGGGAAAGAGGGGAAGTAGAGGGGTCTGCGTAATCCACAAATGAAATTATCAGTCCCTGACATGATCCAGAGTTGACTGAAACCTAATCAAGACCGCAAGAGGTCAGTGTAGCAAACACAAAGGGAAAGGAAATGGAAACAAATCAAAACAAAACTTTTAAGAGGAAATGGACCGCAGGTGCTCAGTGACTATGTATGCTTTGGGTAGAAAGAAAAGATAACTTCTTAGGTTTCTGCCTCTTCACTTGGGGGAAAAAAGGGGGGCCTGGCCAGACCTTGCCTAGCAATCCCAAAGAAAGCAGGATAAATGGGAACCCAAAGTTTTCAGTATCACCAATTATGGCTTAAAAAGAAAAAAAAAGGAGAAAAAAAAATCCCCTGACCATGTGATGAGGAATGCTACGACCTACCTCTCTCACACCCTAGTATGACACACCCTAATCCATCTGTCACTGGAGCATACTATACTGGGCAGAGATAAAAGTTCTTTTCCTCCTGGGGTTTGCTAATCCAGTTCCCATAGCCCATATCCTTCAGGCCTTTTTTGAAGTAGTTCTTGGCCGTCTCGTAGTCACGGGCAGCTTTCTTGGCCTCACCATAGGAGAGTCTCAGTAGATCCCTGCGGTAACGGAAGGAGCAGAGCTTCTTAAATAGAAGAAAAATGTTCTTTTTGGAGACCCGGGACAATTCATTCCGTGGCCTAGAGAAACAAAAGCACTCATTATTCACCTGGGACCTGTAAGATAAGGAGCTCACAGTGGAGACACCGTGGGAGGGGAGGCGGCTCTCAAGCCCTGAGACTGCAGAGGTATGATGCACCCTTGCAAGTCAGGGCAGAGGCTTGGTCCTCACTGCGCTCTCCTGTCTCCTTACCCATCCACAGTGCCTCTGGTACCGTCCAGGATCTCCAGGTCATAGCCATCAGCCAGACACCAGTTGACGCTTGTCTCCTTAGTCTTCCCGGATTGCCTTTTGGAATCATATATGCTGACTCTGCCAACCTAGGAATCCCAGAAGCAACGGGAGAAAGATGGAAACCTTTCAGGAATAAGATTCTGAAGCAGGGACTCAAGACTCATAGGAGAGAGGAAGTGTGGGGTCATGATCTTTCCCCTGTATTTAGGGTTCTGTTTGGCTAAGACTGAGCACCCTCTAGACATACTAACTCCACCTCGATTCAGATTAATTCCAGACTAAGAGAAGAAAAGCCCTTGGCATCCAAAAGGAAGAAAGTTTAAGTTCTTGGGAGACCAACCAATGTTGGTGGTGGGCCACTGTGGGCAATGTTCCCTTGTGGGCTACCACTGTGGGCAATGTTCCCCTTGCCCACAGTGTACATTTTTCCTCTGTTTACATGACTGCTTGAAAAGGAGGAAAATGTCAGGGAAAATAGAAGGGGGTTATAGCACCTTGGGGTGGTTGACAATAAAGGGATGTCGTAGTCCATCCTCAAATGCACTCCCATCTCTTGTCACACGACAGCAAATAGCACGGGTCAGATGCCCTTGGCTGAAAAGGTAACCTGAGTACAAAAAAGAGAAACATATATACCTGTGTTTGCACCAAATGCTGTTAAGAGGCAGAAGCATGTGGGGATTTTGGAGGTACAAGATATAGTTGTCAAGAAAGAGAAACAGCTGCCTTGTTAGGAAGCACCTTCTGACTGGGGCTACCAGGATCTTCCTACCACAGCAGACTGGACACTCAATCAATTACTGAGGAGTGAATCATGCTCACTTTGATAAGGGAGACAAAACACCTGGCAATAAAGCATGCAGTTTGGGATCTGGGCACAAGAAGGACAGACCAGTTCCAGATCCCAAGGCAGGCCCCTTACCCAATGTGACAGATTTGAGATAAATGGGCTGCAGGAAGTGGGTCAACAGTGCCCCTTGCAGGCCCAGCACGTTCCAGCGTAGGATTTTGTCACTACAGGACATGGTACGGAGTCTCTCCCCGAGCCGAATGCCATCCCACGTAGGCACAATGTCACTGGATTCCACAGGGATTGTGCCTTCTCCTGTGTGAGAGACTTGGGTCAGACCCACAGGCGCCAATGGACCAAACCACTCCCTGGCGTGGTTTCTATCCTCCTTAAGCTTGGGCCACAGGCTACATTCATTCATTCTTCACATATTTCACAGCCCCTGCTATGCGCCAGGCACTATGCTTGGTGCTGGGAAAGAACGGTGAGCAAAACCAAGTAAGATCTTTGTGCTCTTAAAACATCTATGGTGGTGAGGAGATTGAAAGGGAAGAGAATAGACACTAAACCAGTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTT
CATCCTTAGTCTATTTTTAGAACTTGCATTTTCTTACTTTGGTCAATTTTTGGTCAAAAGTACAGAGAGCATAGAATAAAAGCAAAGATGTGAATGTCTCTACCAGACAGAGGATGACCTAGTCAGCAGTTTGGAGGGAAATCATCTGAGGGTGCTGGCTCAGCACGTTCCCAGATGAAGGTCTGTCATCTAAAGGAGAGAGGCAGGCTCAGCTCCTGAAGGTCGCAGAGCCTCAGTAGTCCTCCTGAGTGTGTCTAGCTGACTGTTATCGAGGGACACGTAAAAGCAGCATCACAAAACTGGACTGCAGCCATCACCACGGCACCAAGTCTATGCTTGGGCTCTTCCCTGCTCTGCTCTTGGAGTCATGACCAACACTCTAAAAGCCAACAAAGTCCCTTCAACATGAGTAAAGGAAACAGTTTCAAGCACTGACAGTTTTTACGAGTGACTATTCAAAGAATGCACAGGAGCCAGAGAGCCAGACTCCACAGAGAGGCCAAAGGCTCTGAACACACGAGTCAATGTTCATGGAGGTATAGACAAAGGATTCTACCTCACAGAGTTTGAAGACAACCTGCCCTTTCACCCACAACTACTGCTTTCTATGTCAACCCTATAAAGATCAGGTCTGCGCCCTGCCCACGAGCCTACTTCTGAAGCCATCTGGAAAAATGAAAGCACTTGGATAAATGGAAAAGTATGCCTGAATTTTAAATCTGCTCAATTACAGGTTATCTGTAGCAGTTAAGAATCAACATCTATGGCATTCTTTAAAACACTCCTAATTTACATGTGACTTAGTCAACTTCCCTTGGTGTCACTGTCATGAGAGATATTACACCGGGTGGAACAGTGACGTTAAGCCAACAGGATTTTTTGCCCTTATTCTTGCTAAGTCATGATTATCTGAGCAGAGATGATTTTATACCCTCTAGGATTTGTCCCGTTGGCTAGGGTGTACGCCCAGCATTGGCGGGGAAAATATTCCTAGGAATGCTTTAGGAGAAGAGGCAGCTGGAAGCTTGGCAATATTCCAAGGCATGCCCGTGCTCCCTGGGAAGTGGTCTGTGTCATCCTGCCGGGTGAAACCTCTGCTATTGCTTGAGCAGCTCCCTTAACCCAGTCTGGCTGGTTCTAGACTTCCCAGCTGCCGGAGAAAGTGATACACTTCCAGGGAAGCAGCTTTCCTTGCCTTGCCCGCCCTGCAGCTGGCTAAAGTGCAGGATGGGAGGATGGCTGGGCATTATCTGCAGGCTCCAATCACACTTCCGTGGCACTGGGAACTGCAGTTTTCAACTCCTACCCTTACAAATGTTTCACCAAATCCTTTATGTTCACCTCTTTGCCCTCTGAGGGGGAAAAGGAGACATTCAGATCACAAGGAAAGAATCTCAGAAGGGAAAGAGGGGAAGTAGAGGGGTCTGCGTAATCCACAAATGAAATTATCAGTCCCTGACATGATCCAGAGTTGACTGAAACCTAATCAAGACCGCAAGAGGTCAGTGTAGCAAACACAAAGGGAAAGGAAATGGAAACAAATCAAAACAAAACTTTTAAGAGGAAATGGACCGCAGGTGCTCAGTGACTATGTATGCTTTGGGTAGAAAGAAAAGATAACTTCTTAGGTTTCTGCCTCTTCACTTGGGGGAAAAAAGGGGGGCCTGGCCAGACCTTGCCTAGCAATCCCAAAGAAAGCAGGATAAATGGGAACCCAAAGTTTTCAGTATCACCAATTATGGCTTAAAAAGAAAAAAAAAGGAGAAAAAAAAATCCCCTGACCATGTGATGAGGAATGCTACGACCTACCTCTCTCACACCCTAGTATGACACACCCTAATCCATCTGTCACTGGAGCATACTATACTGGGCAGAGATAAAAGTTCTTTTCCTCCTGGGGTTTGCTAATCCAGTTCCCATAGCCCATATCCTTCAGGCCTTTTTTGAAGTAGTTCTTGGCCGTCTCGTAGTCACGGGCAGCTTTCTTGGCCTCACCATAGGAGAGTCTCAGTAGATCCCTGCGGTAACGGAAGGAGCAGAGCTTCTTAGATAGAAGAAAAATGTTCTTTTTGGAGACCCGGGACAATTCATTCCGTGGCCTAGAGAAACAAAAGCACTCATTATTCACCTGGGACCTGTAAGATAAGGAGCTCACAGTGGAGACACCGTGGGAGGGGAGGCGGCTCTCAAGCCCTGAGACTGCAGAGGTATGATGCACCCTTGCAAGTCAGGGCAGAGGCTTGGTCCTCACTGCGCTCTCCTGTCTCCTTACCCATCCACAGTGCCTCTGGTACCGTCCAGGATCTCCAGGTCATAGCCATCAGCCAGACACCAGTTGACGCTTGTCTCCTTAGTCTTCCCGGATTGCCTTTTGGAATCATATATGCTGACTCTGCCAACCTAGGAATCCCAGAAGCAACGGGAGAAAGATGGAAACCTTTCAGGAATAAGATTCTGAAGCAGGGACTCAAGACTCATAGGAGAGAGGAAGTGTGGGGTCATGATCTTTCCCCTGTATTTAGGGTTCTGTTTGGCTAAGACTGAGCACCCTCTAGACATACTAACTCCACCTCGATTCAGATTAATTCCAGACTAAGAGAAGAAAAGCCCTTGGCATCCAAAAGGAAGAAAGTTTAAGTTCTTGGGAGACCAACCAATGTTGGTGGTGGGCCACTGTGGGCAATGTTCCCTTGTGGGCTACCACTGTGGGCAATGTTCCCCTTGCCCACAGTGTACATTTTTCCTCTGTTTACATGACTGCTTGAAAAGGAGGAAAATGTCAGGGAAAATAGAAGGGGGTTATAGCACCTTGGGGTGGTTGACAATAAAGGGATGTCGTAGTCCATCCTCAAATGCACTCCCATCTCTTGTCACACGACAGCAAATAGCACGGGTCAGATGCCCTTGGCTGAAAAGGTAACCTGAGTACAAAAAAGAGAAACATATATACCTGTGTTTGCACCAAATGCTGTTAAGAGGCAGAAGCATGTGGGGATTTTGGAGGTACAAGATATAGTTGTCAAGAAAGAGAAACAGCTGCCTTGTTAGGAAGCACCTTCTGACTGGGGCTACCAGGATCTTCCTACCACAGCAGACTGGACACTCAATCAATTACTGAGGAGTGAATCATGCTCACTTTGATAAGGGAGACAAAACACCTGGCAATAAAGCATGCAGTTTGGGATCTGGGCACAAGAAGGACAGACCAGTTCCAGATCCCAAGGCAGGCCCCTTACCCAATGTGACAGATTTGAGATAAATGGGCTGCAGGAAGTGGGTCAACAGTGCCCCTTGCAGGCCCAGCACGTTCCAGCGTAGGATTTTGTCACTACAGGACATGGTACGGAGTCTCTCCCCGAGCCGAATGCCATCCCACGTAGGCACAATGTCACTGGATTCCACAGGGATTGTGCCTTCTCCTGTGTGAGAGACTTGGGTCAGACCCACAGGCGCCAATGGACCAAACCACTCCCTGGCGTGGTTTCTATCCTCCTTAAGCTTGGGCCACAGGCTACATTCATTCATTCTTCACATATTTCACAGCCCCTGCTATGCGCCAGGCACTATGCTTGGTGCTGGGAAAGAACGGTGAGCAAAACCAAGTAAGATCTTTGTGCTCTTAAAACATCTATGGTGGTGAGGAGATTGAAAGGGAAGAGAATAGACACTAAACCAGTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTT
Task1_train_1581
An alteration has been detected in ADAR (adenosine deaminase RNA specific) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Symmetrical dyschromatosis of extremities
GTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTTAGTATATTCACAGAGTTCTGCAACTGTCACCACAGTCAATTTTAGAACATTTCATCGCTCCAAAAAGAAACCTTCTACCCATTGGCGCAGTCACTCCTCATCTCTCCAACTCTCCCACTCCTGGCCCTGGCAACCACTCATCTACTTTCTGTCTCTATGGATTTGTCTATTCTGGACATTTCATATAAATGGAATCATACAATATGTGATCTTTTGTGACTGGCTTTTTTCATTTGGCATCAAGTTTTCAAGTGCATCCATATTGTAAGCATGTATCAGCACTTCACTTCTTTTTATGGCCAAAATAATATTCAATTTATGGATATATTTGATGTTTTATTTATGAATCCATCAGCTGATGGACGTCTGGGTTGTTTCCACTTTTTTGGCTCTTGTGAGTAATGCTGCCATGAACATTCACATATTAGTTTCCGTGTGGACACAGATCTCCATCTCTCTGCAGCATATACCTAGGAGTGGAGCACCGGCTCCATGGTAACTGTGTCTATACTTTAGGGTATTTAGCAAGGTTTCAGGACCACCATGATGACTGCTGACGTGGCCTGAACGCAATGGAGTGGATGCGAAGAGACAGTAAGGAGACAGGAGAGGATAGGAGAGAAGGAGCCAGTGGACAAGGCAGAGTCAACTGCCAGCTAGACAGGAGGGGACCCCAGCATTTGGCATCCTCATCTGTCAACTCCTCAGGGCTTGGTTGTGCCGCACTCTTCATTTCCTCCCCGCTTTCTTGAGGTAATCCTATGCATTCTCATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGA
GTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTTAGTATATTCACAGAGTTCTGCAACTGTCACCACAGTCAATTTTAGAACATTTCATCGCTCCAAAAAGAAACCTTCTACCCATTGGCGCAGTCACTCCTCATCTCTCCAACTCTCCCACTCCTGGCCCTGGCAACCACTCATCTACTTTCTGTCTCTATGGATTTGTCTATTCTGGACATTTCATATAAATGGAATCATACAATATGTGATCTTTTGTGACTGGCTTTTTTCATTTGGCATCAAGTTTTCAAGTGCATCCATATTGTAAGCATGTATCAGCACTTCACTTCTTTTTATGGCCAAAATAATATTCAATTTATGGATATATTTGATGTTTTATTTATGAATCCATCAGCTGATGGACGTCTGGGTTGTTTCCACTTTTTTGGCTCTTGTGAGTAATGCTGCCATGAACATTCACATATTAGTTTCCGTGTGGACACAGATCTCCATCTCTCTGCAGCATATACCTAGGAGTGGAGCACCGGCTCCATGGTAACTGTGTCTATACTTTAGGGTATTTAGCAAGGTTTCAGGACCACCATGATGACTGCTGACGTGGCCTGAACGCAATGGAGTGGATGCGAAGAGACAGTAAGGAGACAGGAGAGGATAGGAGAGAAGGAGCCAGTGGACAAGGCAGAGTCAACTGCCAGCTAGACAGGAGGGGACCCCAGCATTTGGCATCCTCATCTGTCAACTCCTCAGGGCTTGGTTGTGCCGCACTCTTCATTTCCTCCCCGCTTTCTTGAGGTAATCCTATGCATTCTCATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGGGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGA
Task1_train_1582
This variant affects the gene KCNN3 (potassium calcium-activated channel subfamily N member 3) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Zimmermann-laband syndrome 3
TGATAACAGCCTTCAATCACTGCCATCGTGATGTGACAAATCATGGCTTTTTTTGGTGCAGCTGATAGCTCAGGGCCATGATGTATCAAGTACAAACACTTGAATGTCAACAACATAAGAATATTTGCCCGTACCAGTTCCTTTTAATGTCTGTTAAGGCTCTTTACAGAATCCAATAAATGTAATCAAAGACCAAACAATCAAACACCATAAATAATTCTGCTGAGAAACTGGAGAGGCCTTGGCCGCTGCACACTCTCCCACTGCCTTCCCCAAGAGCTCGCTCGCAGCTCCCTCTGTCATTCTCTCTCTCTCTCTTTTTGTTCTTCCTTCCTGCCGTTGTCTCTATTTCTAACACATTTTTGCTGCTGTGCAACATTAATCACTGAATATTTTCTCTAGCTTTCAAAAACCCAAATCAAAATTTGGTTGCTCATGGGTCCCTTAACCTACTTCAGTCCTAAATGAAAAAGACTATGGAGGCCGAGACACGGGCACAGGGTTTTAATTCTGTCTCGTCTCAGAAAGAGGACAGTCTTGCAGGAAATCATCTTACTGACCTTCCTTCAGGCTGTAGTTCTAAAGAATTTTCCATAAAAGCTGTCCTTGAATAAACAGCTCCTGCCTTGCCCATTTGGCCTGCTGTTATTCTGGAAGGCTTGTATCTGTCTATTCTAAATGGGTCTTTTCATCTCAGACAATTCAGTGGGGTGTCCAACTTTCAGCAGCTAAATGGTCTACCCATTCCTGCATATTTTCAGATTTTCATCTTCCATAACCACTTCCATAATGGTTCAAGTGAGAAACATTACCCGGAAAACCCAAAAGGGAAAAATTGGATGATGATGTTTTGATGAACAATTTTATTTAGGGATGTGGGCTCTACTAGAATGATTCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGACTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGCTCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCTCCCAGCATAGAATGATTCTTTAAATGATTTTTTTTAAAGGATTAGACTTAGGTACATTTTCAATATACTTTTATAGTTTTAGGTATATTTTCAATATAGTTTTGCCCTTCCTAATGAGAATCCTGAAAATATTTGAGCATAAACAAAAAACATTGCCTCATACCGTGATTTATTTGGTATCATCAGGCAAAGGGGCAGGTTATACCATTGTAGGCTATTAATTAAATTACCAGGAAAATTATTTGGCTGCCTGAACCATGCACAGTGATCGAACAGAAGACAGGAACCCGGCGTATGAAGGTGCTGTTTCCATTTTGTGTCTGGGGTTCCCTCAAACACACCCTTTAAAAGCCTGGTGCAAACCCATACGACATGACCATTTGCTTCCTTCCTTCCTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCTCTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTCTGTATTTTTAGTAGAGATGGGGTTTCAACGTATTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCGACCCTCCTCAGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGTTGGACCATTTGCTTTCTGATTGGCTTCCACTGTGGCCTTAAGTCCCCCATAAGACATGGCTGTGTGGCATCTTACCCGCTTGGTGAGCTGAGTGTCCATCATGAAGTTATGAACGTGCTTCTCCGCTTTGGTGAGTTCCAGCTTTCGGGCCACCACGGCCACCACAAGGGCAGTGCAGCCTGCACCCTGCGGGGGGACATCAAGAGGACCAGAGGGGAAAGAACATATCATTAAGAGGCAAGATGAGAGACTCAACACGCCTGGCGGCCACGGGGGTAATTTCCTGGGAGTGGAGTGGGAACTTGAGCTCTCTGGCTGGTCACGACCAAGCCACAAAAATCTGTTGAAATCTGTCAGGACTCTGATGTCCTGACCCACAGAGGGGTCTGCAGTGCCTCTTGGGTTGTGCTCTGCAGCTGACCTCTGGGAGGCTGAGCTAGCCAGTTTCAATGGAGAAGGATGCTGGGTGGCGCCGAGGCTTTGGGGGGTTTAACCAACAACTAAGCACCTGGTCAGCTGCCAAGCTGTGCAGCGGAAGACAGAGGGGCCAGCACACACGGGCCCTCTCTCCCTCAGGCAGGTCTCCATCCCACTGCCAGCTCTAGACCAGCAGGCCTGGGAGGAAAGAAGGTAGGCCATCAGCTGGGGTGCAGATGGAACACCTGCCAGTGGCTGAGAGTGTTCCTGAAAATAATCGAATGAAGAGGCAATACCTTTCCCCAGGGCTTGTTTCACAGAGGGCACCCAGGTTGGCACGAACACGTGCACTCAGTGACTGTGCCTGCTCTACACTTGGGCTTTTTCACCTCAAGGTTTACGCTATGACTCAGCACAAGGAATCGGTTCCTTCCTGCCTTCACCAGGAGGCTCATGAATTCACCGTCATGCAGAGATTTTAAAGACAACACCACTTCTGCTGGATCAAAACCGGGATTTTAAGTGAGCCCGCAGCAGACCCTTGGGATTTTCTGGAACAGCGATCCTAGTCTGCTCGGTAGGTCCGTGCCAGGGGAGCCCGGGGGAGGGTGGGCAAGGAAGCAGGCTCTGCTGAGCCCCCAGAATGGTGGGACTCACTTTCTCTCTCCTAATCCTCTGGGTGCATACTTGACTGTCTGGGAAATAAGCAGGGAATTCCCTGCACATTCCAACATTCTCCCAATGCATTTTAAAATCCTCTTCGCTAGGCTTCTTGGTTGGCTTGTGAGCATAGGGGGAATTCAGAGACTCACTACTCCCCTGGCTCTTCGGCAGGCAGCGGGAGTCAGCTCCATCCTTCTGCAAGCGGACTCCCGTCAGAGACCATCGCCCTCTGCCTGCATGCTGTGCCCTGCGCCGCCCTGACCACCACTCATGGAAAGAGATGATGAACTTATTAAAGCCAACAACCGAATCCTGTATGTCAAACAGTAATTCTAGTTGCCACAGAACCCAGTCTAGCAGTTGAGGTCCCAGAATGGAAGGAATCTGTCAGTAACATTTTTGGCTCATCAGGTCTTACAAAATGTGTGAGAAGCAGAAAAGAATGTTTTTCAAAGGTACTATAATCTATAACCGACTTGGAAGGAATGCATATGGGTGGATCCATTCCCTACTCTCTCTTTTAGAAGCTATTTCTCTCTTTATCCCACAGGCTGACAAAGGCTAGCCTGTGTGAAGTTTCAATGTGGTTGAAGTTCACAATGCTTTCTCCTCGTTTCCCACAAGGGTCCCCATTAAAACAATCTAGTGTTTCTCAGTACATTTGTTGGCCTTGTCACAAAGTGAAAAGAACCAAGTCTGTGTGAACTTTCCTTTTCTGACCTCATTTTCCTCTTTTGTTCGAGGACGGCTGTGTTTTTTCAGCTTCTGTGACTTACAGGAGACTCTGTGCCCAATTTTCAAAGGATCTGGGCAGTTGCACAGCCTGGTCTGTAGCTGTAATCAATTTAGCCATGCCTCCAAAAGCAAAAAATAGCTTAAAAGAAGCCATCCTAGAGGGAAGATGTGTGCTCCCTTCCCCTCGACCGGACGGAGTATCATCCCTCTCCTTTATATGGAGTTCCAAAAGTACTTTGGGCTGAAAGCCCAAAAAGAGGGCTATATCATAGCGTTAAAAATGGAACATCAGATGGAGAGGGTTCTCCCCAGGTTCCATTCTCCCTCCTCTCGCTAGGCCCAGGCAAAACTCTACTTAAATCATCCCTGAAAGCTGGGGTCCAATAGGCCTGAAGAGGGAGCT
TGATAACAGCCTTCAATCACTGCCATCGTGATGTGACAAATCATGGCTTTTTTTGGTGCAGCTGATAGCTCAGGGCCATGATGTATCAAGTACAAACACTTGAATGTCAACAACATAAGAATATTTGCCCGTACCAGTTCCTTTTAATGTCTGTTAAGGCTCTTTACAGAATCCAATAAATGTAATCAAAGACCAAACAATCAAACACCATAAATAATTCTGCTGAGAAACTGGAGAGGCCTTGGCCGCTGCACACTCTCCCACTGCCTTCCCCAAGAGCTCGCTCGCAGCTCCCTCTGTCATTCTCTCTCTCTCTCTTTTTGTTCTTCCTTCCTGCCGTTGTCTCTATTTCTAACACATTTTTGCTGCTGTGCAACATTAATCACTGAATATTTTCTCTAGCTTTCAAAAACCCAAATCAAAATTTGGTTGCTCATGGGTCCCTTAACCTACTTCAGTCCTAAATGAAAAAGACTATGGAGGCCGAGACACGGGCACAGGGTTTTAATTCTGTCTCGTCTCAGAAAGAGGACAGTCTTGCAGGAAATCATCTTACTGACCTTCCTTCAGGCTGTAGTTCTAAAGAATTTTCCATAAAAGCTGTCCTTGAATAAACAGCTCCTGCCTTGCCCATTTGGCCTGCTGTTATTCTGGAAGGCTTGTATCTGTCTATTCTAAATGGGTCTTTTCATCTCAGACAATTCAGTGGGGTGTCCAACTTTCAGCAGCTAAATGGTCTACCCATTCCTGCATATTTTCAGATTTTCATCTTCCATAACCACTTCCATAATGGTTCAAGTGAGAAACATTACCCGGAAAACCCAAAAGGGAAAAATTGGATGATGATGTTTTGATGAACAATTTTATTTAGGGATGTGGGCTCTACTAGAATGATTCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGACTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGCTCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCTCCCAGCATAGAATGATTCTTTAAATGATTTTTTTTAAAGGATTAGACTTAGGTACATTTTCAATATACTTTTATAGTTTTAGGTATATTTTCAATATAGTTTTGCCCTTCCTAATGAGAATCCTGAAAATATTTGAGCATAAACAAAAAACATTGCCTCATACCGTGATTTATTTGGTATCATCAGGCAAAGGGGCAGGTTATACCATTGTAGGCTATTAATTAAATTACCAGGAAAATTATTTGGCTGCCTGAACCATGCACAGTGATCGAACAGAAGACAGGAACCCGGCGTATGAAGGTGCTGTTTCCATTTTGTGTCTGGGGTTCCCTCAAACACACCCTTTAAAAGCCTGGTGCAAACCCATACGACATGACCATTTGCTTCCTTCCTTCCTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCTCTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTCTGTATTTTTAGTAGAGATGGGGTTTCAACGTATTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCGACCCTCCTCAGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGTTGGACCATTTGCTTTCTGATTGGCTTCCACTGTGGCCTTAAGTCCCCCATAAGACATGGCTGTGTGGCATCTTACCCGCTTGGTGAGCTGAGTGTCCATCATGAAGTTATGAACGTGCTTCTCCGCTTTGGTGAGTTCCAGCTTTCGGGCCACCACGGCCACCACAAGGGTAGTGCAGCCTGCACCCTGCGGGGGGACATCAAGAGGACCAGAGGGGAAAGAACATATCATTAAGAGGCAAGATGAGAGACTCAACACGCCTGGCGGCCACGGGGGTAATTTCCTGGGAGTGGAGTGGGAACTTGAGCTCTCTGGCTGGTCACGACCAAGCCACAAAAATCTGTTGAAATCTGTCAGGACTCTGATGTCCTGACCCACAGAGGGGTCTGCAGTGCCTCTTGGGTTGTGCTCTGCAGCTGACCTCTGGGAGGCTGAGCTAGCCAGTTTCAATGGAGAAGGATGCTGGGTGGCGCCGAGGCTTTGGGGGGTTTAACCAACAACTAAGCACCTGGTCAGCTGCCAAGCTGTGCAGCGGAAGACAGAGGGGCCAGCACACACGGGCCCTCTCTCCCTCAGGCAGGTCTCCATCCCACTGCCAGCTCTAGACCAGCAGGCCTGGGAGGAAAGAAGGTAGGCCATCAGCTGGGGTGCAGATGGAACACCTGCCAGTGGCTGAGAGTGTTCCTGAAAATAATCGAATGAAGAGGCAATACCTTTCCCCAGGGCTTGTTTCACAGAGGGCACCCAGGTTGGCACGAACACGTGCACTCAGTGACTGTGCCTGCTCTACACTTGGGCTTTTTCACCTCAAGGTTTACGCTATGACTCAGCACAAGGAATCGGTTCCTTCCTGCCTTCACCAGGAGGCTCATGAATTCACCGTCATGCAGAGATTTTAAAGACAACACCACTTCTGCTGGATCAAAACCGGGATTTTAAGTGAGCCCGCAGCAGACCCTTGGGATTTTCTGGAACAGCGATCCTAGTCTGCTCGGTAGGTCCGTGCCAGGGGAGCCCGGGGGAGGGTGGGCAAGGAAGCAGGCTCTGCTGAGCCCCCAGAATGGTGGGACTCACTTTCTCTCTCCTAATCCTCTGGGTGCATACTTGACTGTCTGGGAAATAAGCAGGGAATTCCCTGCACATTCCAACATTCTCCCAATGCATTTTAAAATCCTCTTCGCTAGGCTTCTTGGTTGGCTTGTGAGCATAGGGGGAATTCAGAGACTCACTACTCCCCTGGCTCTTCGGCAGGCAGCGGGAGTCAGCTCCATCCTTCTGCAAGCGGACTCCCGTCAGAGACCATCGCCCTCTGCCTGCATGCTGTGCCCTGCGCCGCCCTGACCACCACTCATGGAAAGAGATGATGAACTTATTAAAGCCAACAACCGAATCCTGTATGTCAAACAGTAATTCTAGTTGCCACAGAACCCAGTCTAGCAGTTGAGGTCCCAGAATGGAAGGAATCTGTCAGTAACATTTTTGGCTCATCAGGTCTTACAAAATGTGTGAGAAGCAGAAAAGAATGTTTTTCAAAGGTACTATAATCTATAACCGACTTGGAAGGAATGCATATGGGTGGATCCATTCCCTACTCTCTCTTTTAGAAGCTATTTCTCTCTTTATCCCACAGGCTGACAAAGGCTAGCCTGTGTGAAGTTTCAATGTGGTTGAAGTTCACAATGCTTTCTCCTCGTTTCCCACAAGGGTCCCCATTAAAACAATCTAGTGTTTCTCAGTACATTTGTTGGCCTTGTCACAAAGTGAAAAGAACCAAGTCTGTGTGAACTTTCCTTTTCTGACCTCATTTTCCTCTTTTGTTCGAGGACGGCTGTGTTTTTTCAGCTTCTGTGACTTACAGGAGACTCTGTGCCCAATTTTCAAAGGATCTGGGCAGTTGCACAGCCTGGTCTGTAGCTGTAATCAATTTAGCCATGCCTCCAAAAGCAAAAAATAGCTTAAAAGAAGCCATCCTAGAGGGAAGATGTGTGCTCCCTTCCCCTCGACCGGACGGAGTATCATCCCTCTCCTTTATATGGAGTTCCAAAAGTACTTTGGGCTGAAAGCCCAAAAAGAGGGCTATATCATAGCGTTAAAAATGGAACATCAGATGGAGAGGGTTCTCCCCAGGTTCCATTCTCCCTCCTCTCGCTAGGCCCAGGCAAAACTCTACTTAAATCATCCCTGAAAGCTGGGGTCCAATAGGCCTGAAGAGGGAGCT
Task1_train_1583
This alteration occurs within gene KCNN3 (potassium calcium-activated channel subfamily N member 3) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Zimmermann-laband syndrome 3
TCTCCATTGGGGGAAGAGTGTCTGCTTACCAGAGAAGGCTCATGAAGCCCTGTGCAGTGTGGTCCCACTCAGAGCAGATGTTGCAATGTCAGCTGCTGAGTAATGGCGAGGTTCTGAATAGGTGAGCATGGTGTGTCCCTGGGGCTCTGTGTGTGAGAAAGGTCTTCCAACACTGCACTGGCTCTCAGAACCTGAACCTGCATCCTGGAGCCTGAACCCTTGTTCTGCGGCAGCAGAATGCCCTCTCAGTTTGACCGTGTGTCTGTTGGCCAAAACGCTGAAAGAAATGTCTGCAAACAGAATGTCTCAAAAATAGGTAGGAGATACGATTCAAGGCACCCATGTAGGGTGTGTTGAGGCTAACTCCTCTCCAGACTTCTTTGTCTTGTTTGATCTCTGCTAGGACACTGGTGCATGGAAGATTTGGCAATATAATCGTAAGTGTTGACAAATTAAGGGCGACTACCAGGATTTGTGTAAATTACACAGGATGCTTCACCATACCTCCCAACATAATAAAAATAATCTATCTCAAGCAAACATAGCTTCATTCTATCTCAAGTGATCCTCATTTTAAAATGAGGAAACTGTAGCCCAGAGAGGTTAAGTAACTTGCCCTAGGTCTCACAGCTACTTAGGAGCAGAATCACGGTTTCTAACCTAGATTTAGACTCCACATGTCAAATAGATTAAAATGAATATCCAGGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGAATTTTGGGAGGCCAAGGTAGGAGGATCACTTGAAGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGCCTGGTATGGTGGCGCATGCCTGTAATCTCAGCTACATGGGAGGCTGAGGCAGGAGAATTGCTTGAACACAGGAGGCAGAGGTTGCAGTGAGCAGAGACTATGCCACTGCACTCCAGCCTGGGCGAGAGAGCGAGACTCCATCTCAGATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATGAAAATCCAGGACCCCTTGCAAGGAGAAGAGTCATTAAAGGCAGCTCGAGGGTGGTGGAAGGAGGTGGCTTCAGTCCTGCCCTTGAGCCTTGTTGATGGCTGTTCCAAGGAGTTGGCATTTTGTTCTACAGCCCTGGATCTCTGTCAGGCCACATCTCCCTTCTTTCCCATGAGTAGCTTCTCTGAATGACTCCCAACCACCAGCCTCCTAAAACAATGTTTCCCAAAGTATGTTCCATCAGTACAGTGCTTCTCAAACTAAGGTGCATATGAATCACCAGGTGACCTTGTTAAATGCAAATTCTGATTCATTCATTCTGGGCTAAGGCCTGAGATTCTGGGAACTCTAACAAGTTCCCAGTGATGCCAGTGCTGCTGGTCTGTGAACCAAACTTTGAGTAGCAAGGTACCAATAGTGCTTTATAATAAAAAGGATTTGCAGGCAAATACAATTAAGAAAGGCTGAACCAAACAAAAATAAATGGTTTCATTACTTCAGGACTTCTCAGAGCCTTTAAAATGCTAATAAGCATTATTAATACCCAAGAGGAGTAAGTTGCAATGTGTTATATGTGAGTTACTGATGTAACCAGAATGCTTTGATATATTGGTTTGCAAAGAAGGAACAGAAAATCAGGAAAATTCTGTGCCTTTTTCCCACCTTACTTTGGTTCCAATGCTGCAATTCTAGCTCATACTGAACCCCAACTCAGCACTCCCCTCTTTCCCATTGTCTCCTTTCAGGTGTCTGGGTACATGCCTGTCTCCTCCATCAGACCACATACTTCCTGGCACCCCTACTCCTCCTCCCTTCCCTGTCCCAGCACAGGCTCTGTACTCAGAAAGCCCCATGTGGAATACCTTTCACAGACACGGACGGTCCAGGCAGCAATGATCCACAGAGAGATGCTGAACACGAGCAGCACAGTGCCAGGGCAGATGGTCATGAGCGTCTTCATGACAAAGCGGGTGTTGAAGTTGATCTTGTTGAGGGCCCCGATGCTGCGGGACGAGGCATCGGTGAAGAGCTTGCTGTGCAGCAGCATGACTCGGGCGATCAGGTACAGGCGCAGGAACATGGGGATAGACAGGATGATGTCCACATCGGCCTCCGCCCGGGAGGGTGTGTAGGAGAAGGCCAGGCGTGCCGTCCAGAAGAACTTGTACTCGCCAGGAATGGGGTGGATGGCGCACACCAGCATCTCCAGGCTGATGTACAGGATGCGCTCGTAGGTCATGGCTATCCGCCAGTCATCCGCGCCATTGTCGATCACGAAGAGCTGGTGGGAGCAGAAAGTCCATTAGTGTGGCCAGGACCAGGAAGCCCACAGCAGGGTCCAGGCAGGACAGGTGGGGCAGGCTGGGGCAGGCTGCTGGGCTCAGGTCAGCCTGACCACCTCAGCATGCTCTTTAGGGGCCTTGCTATGTGGCAAGAGCCCTGTATGTGGAGTAGGGAGAGCTGGATTCAGTCTACCTGGGAAGCCCTGGCTAAGACACTTTGACTCTCTTGGCCTCACTTTCCTCCTCTGCAAATCGCTGCCTGAGATATAGTGATTTATAATAAGAAATAATGTACTTGGTCTTTATCCTGGTTTAGGCACAGTTCCCAAAACGCTCGGAATTTCCAAAGTGATAAGTGTCATTTGTATGCTAATGAGATGACTAGTGGCTGGGGTCGGTCGGGGTGGGGATCCAGGGTGGCCTCAGGATGGCGCTGGTTGCCAGGGGAACCAATCTGGTGATGAGAGGGTTGGAACTTTCAGCCCCACCCCACCACCTCCTGAGAAGGAAGAGGGGCCCGAAGGTTGAGTTGATCACCAATGGCCAATGATGTCATCAATTATGTCGGTGTAATGAAACCTCCACAAAATCCCAAAAAGACAGTGTTTTGTTTTGTTTTTTTAACTTTTATTTTAGGTTCAGGGGTACATGTGCAAGTTTGCTATATAGGTAAACTCGTGTTACAGAGATTTGTTGTGCAGATGATTTCGTCACCCAGGTACTATTGGGTACAGTACCCAATAGTTATTTTTTCTGATCCTCTCCCTCCCACTCTCCACCCTCAGTGTCTGTCGTTCCCCTCTTTGTGTTTCGATGAGCTTCCAGATAGCTGCACACATGGAGGTCCCTGGACACGTGGAGTGTTGCGTGCCCAGAGAGGGCATGGAAGCTCCACCCCTTCCCATGCGCCCTGCCCTTTGCTTCGCTCCCATATGGCTGCTCATCTGAATCCTTTGTAAGGTCCTTTATAATAAACCAGTAAATGTGTTTCCCTGAGTTCTGTGAGCTGCTCTAGAAAATTAATGAAAACCTGAGAAGGGCGTCCTGGGAATCCCTGATTTATAGCCACTTGGTCAGAGGCTCAGATAAAACAACCTGGGGCTGGTGACTAGCATCGGAAGTCAGGTAAATGTGGTGGGACTGAGCCCTCAACCTGTGGGAGCCAACACTAACTCCAGGCGGACAATCAGGCTTGAGTTATATTGCAGGACACTCAGCCAGTGTCCATTGGAGAATTGCTTGGTGTGTGGGAACCACCCCCTCCTTTTTGCTGACCACAAGTGTTCTATGTTGAGCCACTTCCCAAGGTCCCTTCCAGCACACAGGTGCCAAATTGGCTGTTTCACGATGGTGAGAAAGATCAACTCATTTATATTAGAAACACATCCCTGAGCCCCTGCCAGACCTGAGCTGAGCCCTGTAAGGGGATGTAAAGATGAAAAAGTCATGTTTCCTGCATGAGTGAACTCACAAGGGCTGGCACAGATTCCTTCTCCCCACTCAGAGAAGGGGGCAGCAAGTGTTTGCTGGCAGCACTGTGCTCTCAGACAGTGCAGTGAAGTGTTCACGGCACGGACTCTGGAGCCAGATTGCCTGATCCTAACACTACTGGCTCCATGATCCTGGGCAAATTACCGAACCACCCTGTGCCTCAGTTACCTCATCTGGGGATGATGATAATAACTGCTGCATAGAGGTCACTGTGAGGCTGCAGTGGGTTCGTATATGCAACATGCATGGAATCCTGCCTAGCACCCAGCACACTATGTA
TCTCCATTGGGGGAAGAGTGTCTGCTTACCAGAGAAGGCTCATGAAGCCCTGTGCAGTGTGGTCCCACTCAGAGCAGATGTTGCAATGTCAGCTGCTGAGTAATGGCGAGGTTCTGAATAGGTGAGCATGGTGTGTCCCTGGGGCTCTGTGTGTGAGAAAGGTCTTCCAACACTGCACTGGCTCTCAGAACCTGAACCTGCATCCTGGAGCCTGAACCCTTGTTCTGCGGCAGCAGAATGCCCTCTCAGTTTGACCGTGTGTCTGTTGGCCAAAACGCTGAAAGAAATGTCTGCAAACAGAATGTCTCAAAAATAGGTAGGAGATACGATTCAAGGCACCCATGTAGGGTGTGTTGAGGCTAACTCCTCTCCAGACTTCTTTGTCTTGTTTGATCTCTGCTAGGACACTGGTGCATGGAAGATTTGGCAATATAATCGTAAGTGTTGACAAATTAAGGGCGACTACCAGGATTTGTGTAAATTACACAGGATGCTTCACCATACCTCCCAACATAATAAAAATAATCTATCTCAAGCAAACATAGCTTCATTCTATCTCAAGTGATCCTCATTTTAAAATGAGGAAACTGTAGCCCAGAGAGGTTAAGTAACTTGCCCTAGGTCTCACAGCTACTTAGGAGCAGAATCACGGTTTCTAACCTAGATTTAGACTCCACATGTCAAATAGATTAAAATGAATATCCAGGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGAATTTTGGGAGGCCAAGGTAGGAGGATCACTTGAAGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGCCTGGTATGGTGGCGCATGCCTGTAATCTCAGCTACATGGGAGGCTGAGGCAGGAGAATTGCTTGAACACAGGAGGCAGAGGTTGCAGTGAGCAGAGACTATGCCACTGCACTCCAGCCTGGGCGAGAGAGCGAGACTCCATCTCAGATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATGAAAATCCAGGACCCCTTGCAAGGAGAAGAGTCATTAAAGGCAGCTCGAGGGTGGTGGAAGGAGGTGGCTTCAGTCCTGCCCTTGAGCCTTGTTGATGGCTGTTCCAAGGAGTTGGCATTTTGTTCTACAGCCCTGGATCTCTGTCAGGCCACATCTCCCTTCTTTCCCATGAGTAGCTTCTCTGAATGACTCCCAACCACCAGCCTCCTAAAACAATGTTTCCCAAAGTATGTTCCATCAGTACAGTGCTTCTCAAACTAAGGTGCATATGAATCACCAGGTGACCTTGTTAAATGCAAATTCTGATTCATTCATTCTGGGCTAAGGCCTGAGATTCTGGGAACTCTAACAAGTTCCCAGTGATGCCAGTGCTGCTGGTCTGTGAACCAAACTTTGAGTAGCAAGGTACCAATAGTGCTTTATAATAAAAAGGATTTGCAGGCAAATACAATTAAGAAAGGCTGAACCAAACAAAAATAAATGGTTTCATTACTTCAGGACTTCTCAGAGCCTTTAAAATGCTAATAAGCATTATTAATACCCAAGAGGAGTAAGTTGCAATGTGTTATATGTGAGTTACTGATGTAACCAGAATGCTTTGATATATTGGTTTGCAAAGAAGGAACAGAAAATCAGGAAAATTCTGTGCCTTTTTCCCACCTTACTTTGGTTCCAATGCTGCAATTCTAGCTCATACTGAACCCCAACTCAGCACTCCCCTCTTTCCCATTGTCTCCTTTCAGGTGTCTGGGTACATGCCTGTCTCCTCCATCAGACCACATACTTCCTGGCACCCCTACTCCTCCTCCCTTCCCTGTCCCAGCACAGGCTCTGTACTCAGAAAGCCCCATGTGGAATACCTTTCACAGACACGGACGGTCCAGGCAGCAATGATCCACAGAGAGATGCTGAACACGAGCAGCACAGTGCCAGGGCAGATGGTCATGAGCGTCTTCATGACAAAGCGGGTGTTGAAGTTGATCTTGTTGAGGGCCCCGATGCAGCGGGACGAGGCATCGGTGAAGAGCTTGCTGTGCAGCAGCATGACTCGGGCGATCAGGTACAGGCGCAGGAACATGGGGATAGACAGGATGATGTCCACATCGGCCTCCGCCCGGGAGGGTGTGTAGGAGAAGGCCAGGCGTGCCGTCCAGAAGAACTTGTACTCGCCAGGAATGGGGTGGATGGCGCACACCAGCATCTCCAGGCTGATGTACAGGATGCGCTCGTAGGTCATGGCTATCCGCCAGTCATCCGCGCCATTGTCGATCACGAAGAGCTGGTGGGAGCAGAAAGTCCATTAGTGTGGCCAGGACCAGGAAGCCCACAGCAGGGTCCAGGCAGGACAGGTGGGGCAGGCTGGGGCAGGCTGCTGGGCTCAGGTCAGCCTGACCACCTCAGCATGCTCTTTAGGGGCCTTGCTATGTGGCAAGAGCCCTGTATGTGGAGTAGGGAGAGCTGGATTCAGTCTACCTGGGAAGCCCTGGCTAAGACACTTTGACTCTCTTGGCCTCACTTTCCTCCTCTGCAAATCGCTGCCTGAGATATAGTGATTTATAATAAGAAATAATGTACTTGGTCTTTATCCTGGTTTAGGCACAGTTCCCAAAACGCTCGGAATTTCCAAAGTGATAAGTGTCATTTGTATGCTAATGAGATGACTAGTGGCTGGGGTCGGTCGGGGTGGGGATCCAGGGTGGCCTCAGGATGGCGCTGGTTGCCAGGGGAACCAATCTGGTGATGAGAGGGTTGGAACTTTCAGCCCCACCCCACCACCTCCTGAGAAGGAAGAGGGGCCCGAAGGTTGAGTTGATCACCAATGGCCAATGATGTCATCAATTATGTCGGTGTAATGAAACCTCCACAAAATCCCAAAAAGACAGTGTTTTGTTTTGTTTTTTTAACTTTTATTTTAGGTTCAGGGGTACATGTGCAAGTTTGCTATATAGGTAAACTCGTGTTACAGAGATTTGTTGTGCAGATGATTTCGTCACCCAGGTACTATTGGGTACAGTACCCAATAGTTATTTTTTCTGATCCTCTCCCTCCCACTCTCCACCCTCAGTGTCTGTCGTTCCCCTCTTTGTGTTTCGATGAGCTTCCAGATAGCTGCACACATGGAGGTCCCTGGACACGTGGAGTGTTGCGTGCCCAGAGAGGGCATGGAAGCTCCACCCCTTCCCATGCGCCCTGCCCTTTGCTTCGCTCCCATATGGCTGCTCATCTGAATCCTTTGTAAGGTCCTTTATAATAAACCAGTAAATGTGTTTCCCTGAGTTCTGTGAGCTGCTCTAGAAAATTAATGAAAACCTGAGAAGGGCGTCCTGGGAATCCCTGATTTATAGCCACTTGGTCAGAGGCTCAGATAAAACAACCTGGGGCTGGTGACTAGCATCGGAAGTCAGGTAAATGTGGTGGGACTGAGCCCTCAACCTGTGGGAGCCAACACTAACTCCAGGCGGACAATCAGGCTTGAGTTATATTGCAGGACACTCAGCCAGTGTCCATTGGAGAATTGCTTGGTGTGTGGGAACCACCCCCTCCTTTTTGCTGACCACAAGTGTTCTATGTTGAGCCACTTCCCAAGGTCCCTTCCAGCACACAGGTGCCAAATTGGCTGTTTCACGATGGTGAGAAAGATCAACTCATTTATATTAGAAACACATCCCTGAGCCCCTGCCAGACCTGAGCTGAGCCCTGTAAGGGGATGTAAAGATGAAAAAGTCATGTTTCCTGCATGAGTGAACTCACAAGGGCTGGCACAGATTCCTTCTCCCCACTCAGAGAAGGGGGCAGCAAGTGTTTGCTGGCAGCACTGTGCTCTCAGACAGTGCAGTGAAGTGTTCACGGCACGGACTCTGGAGCCAGATTGCCTGATCCTAACACTACTGGCTCCATGATCCTGGGCAAATTACCGAACCACCCTGTGCCTCAGTTACCTCATCTGGGGATGATGATAATAACTGCTGCATAGAGGTCACTGTGAGGCTGCAGTGGGTTCGTATATGCAACATGCATGGAATCCTGCCTAGCACCCAGCACACTATGTA
Task1_train_1584
The gene KCNN3 (potassium calcium-activated channel subfamily N member 3), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Zimmermann-laband syndrome 3
TGTGTCTGTTGGCCAAAACGCTGAAAGAAATGTCTGCAAACAGAATGTCTCAAAAATAGGTAGGAGATACGATTCAAGGCACCCATGTAGGGTGTGTTGAGGCTAACTCCTCTCCAGACTTCTTTGTCTTGTTTGATCTCTGCTAGGACACTGGTGCATGGAAGATTTGGCAATATAATCGTAAGTGTTGACAAATTAAGGGCGACTACCAGGATTTGTGTAAATTACACAGGATGCTTCACCATACCTCCCAACATAATAAAAATAATCTATCTCAAGCAAACATAGCTTCATTCTATCTCAAGTGATCCTCATTTTAAAATGAGGAAACTGTAGCCCAGAGAGGTTAAGTAACTTGCCCTAGGTCTCACAGCTACTTAGGAGCAGAATCACGGTTTCTAACCTAGATTTAGACTCCACATGTCAAATAGATTAAAATGAATATCCAGGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGAATTTTGGGAGGCCAAGGTAGGAGGATCACTTGAAGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGCCTGGTATGGTGGCGCATGCCTGTAATCTCAGCTACATGGGAGGCTGAGGCAGGAGAATTGCTTGAACACAGGAGGCAGAGGTTGCAGTGAGCAGAGACTATGCCACTGCACTCCAGCCTGGGCGAGAGAGCGAGACTCCATCTCAGATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATGAAAATCCAGGACCCCTTGCAAGGAGAAGAGTCATTAAAGGCAGCTCGAGGGTGGTGGAAGGAGGTGGCTTCAGTCCTGCCCTTGAGCCTTGTTGATGGCTGTTCCAAGGAGTTGGCATTTTGTTCTACAGCCCTGGATCTCTGTCAGGCCACATCTCCCTTCTTTCCCATGAGTAGCTTCTCTGAATGACTCCCAACCACCAGCCTCCTAAAACAATGTTTCCCAAAGTATGTTCCATCAGTACAGTGCTTCTCAAACTAAGGTGCATATGAATCACCAGGTGACCTTGTTAAATGCAAATTCTGATTCATTCATTCTGGGCTAAGGCCTGAGATTCTGGGAACTCTAACAAGTTCCCAGTGATGCCAGTGCTGCTGGTCTGTGAACCAAACTTTGAGTAGCAAGGTACCAATAGTGCTTTATAATAAAAAGGATTTGCAGGCAAATACAATTAAGAAAGGCTGAACCAAACAAAAATAAATGGTTTCATTACTTCAGGACTTCTCAGAGCCTTTAAAATGCTAATAAGCATTATTAATACCCAAGAGGAGTAAGTTGCAATGTGTTATATGTGAGTTACTGATGTAACCAGAATGCTTTGATATATTGGTTTGCAAAGAAGGAACAGAAAATCAGGAAAATTCTGTGCCTTTTTCCCACCTTACTTTGGTTCCAATGCTGCAATTCTAGCTCATACTGAACCCCAACTCAGCACTCCCCTCTTTCCCATTGTCTCCTTTCAGGTGTCTGGGTACATGCCTGTCTCCTCCATCAGACCACATACTTCCTGGCACCCCTACTCCTCCTCCCTTCCCTGTCCCAGCACAGGCTCTGTACTCAGAAAGCCCCATGTGGAATACCTTTCACAGACACGGACGGTCCAGGCAGCAATGATCCACAGAGAGATGCTGAACACGAGCAGCACAGTGCCAGGGCAGATGGTCATGAGCGTCTTCATGACAAAGCGGGTGTTGAAGTTGATCTTGTTGAGGGCCCCGATGCTGCGGGACGAGGCATCGGTGAAGAGCTTGCTGTGCAGCAGCATGACTCGGGCGATCAGGTACAGGCGCAGGAACATGGGGATAGACAGGATGATGTCCACATCGGCCTCCGCCCGGGAGGGTGTGTAGGAGAAGGCCAGGCGTGCCGTCCAGAAGAACTTGTACTCGCCAGGAATGGGGTGGATGGCGCACACCAGCATCTCCAGGCTGATGTACAGGATGCGCTCGTAGGTCATGGCTATCCGCCAGTCATCCGCGCCATTGTCGATCACGAAGAGCTGGTGGGAGCAGAAAGTCCATTAGTGTGGCCAGGACCAGGAAGCCCACAGCAGGGTCCAGGCAGGACAGGTGGGGCAGGCTGGGGCAGGCTGCTGGGCTCAGGTCAGCCTGACCACCTCAGCATGCTCTTTAGGGGCCTTGCTATGTGGCAAGAGCCCTGTATGTGGAGTAGGGAGAGCTGGATTCAGTCTACCTGGGAAGCCCTGGCTAAGACACTTTGACTCTCTTGGCCTCACTTTCCTCCTCTGCAAATCGCTGCCTGAGATATAGTGATTTATAATAAGAAATAATGTACTTGGTCTTTATCCTGGTTTAGGCACAGTTCCCAAAACGCTCGGAATTTCCAAAGTGATAAGTGTCATTTGTATGCTAATGAGATGACTAGTGGCTGGGGTCGGTCGGGGTGGGGATCCAGGGTGGCCTCAGGATGGCGCTGGTTGCCAGGGGAACCAATCTGGTGATGAGAGGGTTGGAACTTTCAGCCCCACCCCACCACCTCCTGAGAAGGAAGAGGGGCCCGAAGGTTGAGTTGATCACCAATGGCCAATGATGTCATCAATTATGTCGGTGTAATGAAACCTCCACAAAATCCCAAAAAGACAGTGTTTTGTTTTGTTTTTTTAACTTTTATTTTAGGTTCAGGGGTACATGTGCAAGTTTGCTATATAGGTAAACTCGTGTTACAGAGATTTGTTGTGCAGATGATTTCGTCACCCAGGTACTATTGGGTACAGTACCCAATAGTTATTTTTTCTGATCCTCTCCCTCCCACTCTCCACCCTCAGTGTCTGTCGTTCCCCTCTTTGTGTTTCGATGAGCTTCCAGATAGCTGCACACATGGAGGTCCCTGGACACGTGGAGTGTTGCGTGCCCAGAGAGGGCATGGAAGCTCCACCCCTTCCCATGCGCCCTGCCCTTTGCTTCGCTCCCATATGGCTGCTCATCTGAATCCTTTGTAAGGTCCTTTATAATAAACCAGTAAATGTGTTTCCCTGAGTTCTGTGAGCTGCTCTAGAAAATTAATGAAAACCTGAGAAGGGCGTCCTGGGAATCCCTGATTTATAGCCACTTGGTCAGAGGCTCAGATAAAACAACCTGGGGCTGGTGACTAGCATCGGAAGTCAGGTAAATGTGGTGGGACTGAGCCCTCAACCTGTGGGAGCCAACACTAACTCCAGGCGGACAATCAGGCTTGAGTTATATTGCAGGACACTCAGCCAGTGTCCATTGGAGAATTGCTTGGTGTGTGGGAACCACCCCCTCCTTTTTGCTGACCACAAGTGTTCTATGTTGAGCCACTTCCCAAGGTCCCTTCCAGCACACAGGTGCCAAATTGGCTGTTTCACGATGGTGAGAAAGATCAACTCATTTATATTAGAAACACATCCCTGAGCCCCTGCCAGACCTGAGCTGAGCCCTGTAAGGGGATGTAAAGATGAAAAAGTCATGTTTCCTGCATGAGTGAACTCACAAGGGCTGGCACAGATTCCTTCTCCCCACTCAGAGAAGGGGGCAGCAAGTGTTTGCTGGCAGCACTGTGCTCTCAGACAGTGCAGTGAAGTGTTCACGGCACGGACTCTGGAGCCAGATTGCCTGATCCTAACACTACTGGCTCCATGATCCTGGGCAAATTACCGAACCACCCTGTGCCTCAGTTACCTCATCTGGGGATGATGATAATAACTGCTGCATAGAGGTCACTGTGAGGCTGCAGTGGGTTCGTATATGCAACATGCATGGAATCCTGCCTAGCACCCAGCACACTATGTAACTATTAGCTATTCTTATTTGTAGCATTATTAATGGATCTGGTCTCGGTCTTTCTGTAAAATGACAGTTGGGCTCAGTGATGTCTAAACTTCCTTCTGGCCCTAAACTTTCACGAAGATGCTTCCTGCTGTCACCTCATGAGGATGGCTGTTCTCACAAGAATTGACTGAGCACCTGCTGTGTGTCCAGCCTTTGTCTTCCGGTAAGTCCCACTGTGGAGTCCCACCATATTTGATGACTGTGAAAGGGACTTCACA
TGTGTCTGTTGGCCAAAACGCTGAAAGAAATGTCTGCAAACAGAATGTCTCAAAAATAGGTAGGAGATACGATTCAAGGCACCCATGTAGGGTGTGTTGAGGCTAACTCCTCTCCAGACTTCTTTGTCTTGTTTGATCTCTGCTAGGACACTGGTGCATGGAAGATTTGGCAATATAATCGTAAGTGTTGACAAATTAAGGGCGACTACCAGGATTTGTGTAAATTACACAGGATGCTTCACCATACCTCCCAACATAATAAAAATAATCTATCTCAAGCAAACATAGCTTCATTCTATCTCAAGTGATCCTCATTTTAAAATGAGGAAACTGTAGCCCAGAGAGGTTAAGTAACTTGCCCTAGGTCTCACAGCTACTTAGGAGCAGAATCACGGTTTCTAACCTAGATTTAGACTCCACATGTCAAATAGATTAAAATGAATATCCAGGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGAATTTTGGGAGGCCAAGGTAGGAGGATCACTTGAAGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGCCTGGTATGGTGGCGCATGCCTGTAATCTCAGCTACATGGGAGGCTGAGGCAGGAGAATTGCTTGAACACAGGAGGCAGAGGTTGCAGTGAGCAGAGACTATGCCACTGCACTCCAGCCTGGGCGAGAGAGCGAGACTCCATCTCAGATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATGAAAATCCAGGACCCCTTGCAAGGAGAAGAGTCATTAAAGGCAGCTCGAGGGTGGTGGAAGGAGGTGGCTTCAGTCCTGCCCTTGAGCCTTGTTGATGGCTGTTCCAAGGAGTTGGCATTTTGTTCTACAGCCCTGGATCTCTGTCAGGCCACATCTCCCTTCTTTCCCATGAGTAGCTTCTCTGAATGACTCCCAACCACCAGCCTCCTAAAACAATGTTTCCCAAAGTATGTTCCATCAGTACAGTGCTTCTCAAACTAAGGTGCATATGAATCACCAGGTGACCTTGTTAAATGCAAATTCTGATTCATTCATTCTGGGCTAAGGCCTGAGATTCTGGGAACTCTAACAAGTTCCCAGTGATGCCAGTGCTGCTGGTCTGTGAACCAAACTTTGAGTAGCAAGGTACCAATAGTGCTTTATAATAAAAAGGATTTGCAGGCAAATACAATTAAGAAAGGCTGAACCAAACAAAAATAAATGGTTTCATTACTTCAGGACTTCTCAGAGCCTTTAAAATGCTAATAAGCATTATTAATACCCAAGAGGAGTAAGTTGCAATGTGTTATATGTGAGTTACTGATGTAACCAGAATGCTTTGATATATTGGTTTGCAAAGAAGGAACAGAAAATCAGGAAAATTCTGTGCCTTTTTCCCACCTTACTTTGGTTCCAATGCTGCAATTCTAGCTCATACTGAACCCCAACTCAGCACTCCCCTCTTTCCCATTGTCTCCTTTCAGGTGTCTGGGTACATGCCTGTCTCCTCCATCAGACCACATACTTCCTGGCACCCCTACTCCTCCTCCCTTCCCTGTCCCAGCACAGGCTCTGTACTCAGAAAGCCCCATGTGGAATACCTTTCACAGACACGGACGGTCCAGGCAGCAATGATCCACAGAGAGATGCTGAACACGAGCAGCACAGTGCCAGGGCAGATGGTCATGAGCGTCTTCATGACAAAGCGGGTGTTGAAGTTGATCTTGTTGAGGGCCCCGATGCTGCGGGACGAGGCATCGGTGAAGAGCTTGCTGTGCAGCAGCATGACTCGGGCGATCAGGTACAGGCGCAGGAACATGGGGATAGACAGGATGATGTCCACATCGGCCTCCGCCCGGGAGGGTGTGTAGGAGAAGGCCAGGCGTGCCGTCCAGAAGAACTTGTACTCGCCAGGAATGGGGTGGATGGCGCACACCAGCATCTCCAGGCTGATGTACAGGATGCGCTCGTAGGTCATGGCTATCCGCCAGTCATCCGCGTCATTGTCGATCACGAAGAGCTGGTGGGAGCAGAAAGTCCATTAGTGTGGCCAGGACCAGGAAGCCCACAGCAGGGTCCAGGCAGGACAGGTGGGGCAGGCTGGGGCAGGCTGCTGGGCTCAGGTCAGCCTGACCACCTCAGCATGCTCTTTAGGGGCCTTGCTATGTGGCAAGAGCCCTGTATGTGGAGTAGGGAGAGCTGGATTCAGTCTACCTGGGAAGCCCTGGCTAAGACACTTTGACTCTCTTGGCCTCACTTTCCTCCTCTGCAAATCGCTGCCTGAGATATAGTGATTTATAATAAGAAATAATGTACTTGGTCTTTATCCTGGTTTAGGCACAGTTCCCAAAACGCTCGGAATTTCCAAAGTGATAAGTGTCATTTGTATGCTAATGAGATGACTAGTGGCTGGGGTCGGTCGGGGTGGGGATCCAGGGTGGCCTCAGGATGGCGCTGGTTGCCAGGGGAACCAATCTGGTGATGAGAGGGTTGGAACTTTCAGCCCCACCCCACCACCTCCTGAGAAGGAAGAGGGGCCCGAAGGTTGAGTTGATCACCAATGGCCAATGATGTCATCAATTATGTCGGTGTAATGAAACCTCCACAAAATCCCAAAAAGACAGTGTTTTGTTTTGTTTTTTTAACTTTTATTTTAGGTTCAGGGGTACATGTGCAAGTTTGCTATATAGGTAAACTCGTGTTACAGAGATTTGTTGTGCAGATGATTTCGTCACCCAGGTACTATTGGGTACAGTACCCAATAGTTATTTTTTCTGATCCTCTCCCTCCCACTCTCCACCCTCAGTGTCTGTCGTTCCCCTCTTTGTGTTTCGATGAGCTTCCAGATAGCTGCACACATGGAGGTCCCTGGACACGTGGAGTGTTGCGTGCCCAGAGAGGGCATGGAAGCTCCACCCCTTCCCATGCGCCCTGCCCTTTGCTTCGCTCCCATATGGCTGCTCATCTGAATCCTTTGTAAGGTCCTTTATAATAAACCAGTAAATGTGTTTCCCTGAGTTCTGTGAGCTGCTCTAGAAAATTAATGAAAACCTGAGAAGGGCGTCCTGGGAATCCCTGATTTATAGCCACTTGGTCAGAGGCTCAGATAAAACAACCTGGGGCTGGTGACTAGCATCGGAAGTCAGGTAAATGTGGTGGGACTGAGCCCTCAACCTGTGGGAGCCAACACTAACTCCAGGCGGACAATCAGGCTTGAGTTATATTGCAGGACACTCAGCCAGTGTCCATTGGAGAATTGCTTGGTGTGTGGGAACCACCCCCTCCTTTTTGCTGACCACAAGTGTTCTATGTTGAGCCACTTCCCAAGGTCCCTTCCAGCACACAGGTGCCAAATTGGCTGTTTCACGATGGTGAGAAAGATCAACTCATTTATATTAGAAACACATCCCTGAGCCCCTGCCAGACCTGAGCTGAGCCCTGTAAGGGGATGTAAAGATGAAAAAGTCATGTTTCCTGCATGAGTGAACTCACAAGGGCTGGCACAGATTCCTTCTCCCCACTCAGAGAAGGGGGCAGCAAGTGTTTGCTGGCAGCACTGTGCTCTCAGACAGTGCAGTGAAGTGTTCACGGCACGGACTCTGGAGCCAGATTGCCTGATCCTAACACTACTGGCTCCATGATCCTGGGCAAATTACCGAACCACCCTGTGCCTCAGTTACCTCATCTGGGGATGATGATAATAACTGCTGCATAGAGGTCACTGTGAGGCTGCAGTGGGTTCGTATATGCAACATGCATGGAATCCTGCCTAGCACCCAGCACACTATGTAACTATTAGCTATTCTTATTTGTAGCATTATTAATGGATCTGGTCTCGGTCTTTCTGTAAAATGACAGTTGGGCTCAGTGATGTCTAAACTTCCTTCTGGCCCTAAACTTTCACGAAGATGCTTCCTGCTGTCACCTCATGAGGATGGCTGTTCTCACAAGAATTGACTGAGCACCTGCTGTGTGTCCAGCCTTTGTCTTCCGGTAAGTCCCACTGTGGAGTCCCACCATATTTGATGACTGTGAAAGGGACTTCACA
Task1_train_1585
The gene KCNN3 (potassium calcium-activated channel subfamily N member 3), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Zimmermann-laband syndrome 3
ATCAGTTTTCCCCAGTGAGGGCCCCTGGTCTCCAAGGGAGGACTGGAGAGAGCCAGGGCTGTGACCAGGGCAGCTGCCAGTCCTAGCGAGGCTGCCAGCCCCATATCCTGGAGCGCCCAGCAGGAGAGGCGGTTCTGAGAAGGCAGCGAGCAGAAGGACCCGCAGACGCAGAGGCTCATTACAGGGAATGACTAAGTGAGCTGCGCTTCCAAGGGAAACCCCACTCGCTTCTGCTCGCTGAGACGCTCATCCTTGAGCTATTTTGACTAAGGCGGCTTCCAGGTGCTGCCCTCCGCTGGGGCAGCCCACTGAGAGAGCAGCCGGGTTGCTGGAGGACCCTCTGCCTGGAAGTCTTGGTCCTGGCTATTCAGGTCGTCTGACAGGTCTGCCCCACCCGTTTCCAGGGCGGGAAAGTCTGCCCATCACCGATTAAAGTGAGATGCTGGGAATGGGGGAAATCCGATCAGCACCTCCTAGGTTTTTGCGGCTGGATTTCAATAAGGAATGTGACAGTCTCGCAGCAGCTGTGCCCTGCCTGAAACAAGCTCTATTTGAAACCTCCAACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTT
ATCAGTTTTCCCCAGTGAGGGCCCCTGGTCTCCAAGGGAGGACTGGAGAGAGCCAGGGCTGTGACCAGGGCAGCTGCCAGTCCTAGCGAGGCTGCCAGCCCCATATCCTGGAGCGCCCAGCAGGAGAGGCGGTTCTGAGAAGGCAGCGAGCAGAAGGACCCGCAGACGCAGAGGCTCATTACAGGGAATGACTAAGTGAGCTGCGCTTCCAAGGGAAACCCCACTCGCTTCTGCTCGCTGAGACGCTCATCCTTGAGCTATTTTGACTAAGGCGGCTTCCAGGTGCTGCCCTCCGCTGGGGCAGCCCACTGAGAGAGCAGCCGGGTTGCTGGAGGACCCTCTGCCTGGAAGTCTTGGTCCTGGCTATTCAGGTCGTCTGACAGGTCTGCCCCACCCGTTTCCAGGGCGGGAAAGTCTGCCCATCACCGATTAAAGTGAGATGCTGGGAATGGGGGAAATCCGATCAGCACCTCCTAGGTTTTTGCGGCTGGATTTCAATAAGGAATGTGACAGTCTCGCAGCAGCTGTGCCCTGCCTGAAACAAGCTCTATTTGAAACCTCCAACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTCATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTT
Task1_train_1586
An alteration has been detected in FLAD1 (flavin adenine dinucleotide synthetase 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Pathogenic; FLAD1-related disorder
TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCCTGTAGTCCTAGTTACTCGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAATATATATATATATATGTATATATATATATACACACACACATACACAGGCCGGGCGTAGTGGCTTACACCTGTAATCCCTGCACTTTGGGAGGCTGAGGCAGGTGGATCGCCTGAGGTCAGGAGATCGAGACCAGCCTAACCAAAATGATGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCGGAGCGTGGTGGCAGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTATACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCCAAACAAACAAAAAAAAAATACAGTTATTCAGTTGTACTAGCCACATTTCAAATGACCACCATATTAGACAGTAGAGATACAGAACATTTCCATCATCACAGGAAGTTCTGGCCAGGCACAGTGGCTCACACCTGTAACCCCAGCACTCTGGGAGGCCGAGGTGGGCTGATCAATGCCTGTAGTCCCAGCTACTCAGGCTGAGGCGGGAAGATCGCTTGAGCCAGGGAAGTCGAGGCTGTAGTGAGCCATGATCATGCCAGTGCACTCCAGCCTGGGCAACAGTAAAGGCCCTGTCTAAAAAAAATAGGGCTGGGCACGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCACATCACGAGGTCAGGATTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAATCTGGGAAGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATAGGGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGCGGGCGGATCATGAAGTCAGGAGATGGAGACCATCCTGGCTACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACAGTGGTGGGCGCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAATAGACGGTTTCTCCCTGTCCTCAAGCTCCACCCTTGCACTAGAGGGTGGTTCAAGAATGGAAAGCAGAGAGTGGAGAAGATGAAGTCCTTCTCTTTCTCTTTGCATACATAGAGCAAGCTATACCAGAGAATCAGATAGCAAGCCCTCCCTCAGAGGCCAAGGGAGCAGAAGAGCCATGGATGGGCCCCTTCCCAGGACAGCAGGGGTAGAAGTGGGAAAGGTGAGCATTTGTGACTATTCTATTACTCTGACCTCCCAGGACTGGACCTACAGAGACATCTGGGATTTTCTGCGTCAGCTGTTTGTCCCATACTGTATCCTGTATGACCGAGGGTAAGGGTATTAGGGGAAGGGAATGGGTAAGGGAGTTTTTAGGGTGCTGGGATAGGGAGGGCCAATAGGATCGCCCACCCTACCACATGCTTGCCCTCCACCCTCCCTGCTCCAGATACACATCACTGGGGAGTCGGGAGAATACCGTGCGGAACCCGGCCCTGAAGTGCCTGAGCCCAGGAGGACACCCCACATACCGTCCAGCCTATCTACTGGAGAACGAAGAAGAGGAGCGGAACTCCCGCACATGACCTCCCACCCTAGGAGGGAGGGAAGGACACCGTCCTAGGGTATAACCTGGCAATAAACCGTGCCTCTCACTGTGCCTGTTGCTCTAGCTGTGTCTTCCTGCTCCAGAGGATGGGAGAAGCAGAAGTGGGTCAAATGCTGCCAGCTCTGACTGGCTGTGCTCACTCTAAGGGGCCCAGGGGCAGGGCAGAACAGGCTGGAAAGGAGCTCTCACTGATGGTTCTCAATGTCAGCCTCAGCAGGAGCCCACCAGAGGGCGAAAGCAGGAGTTGTGCCAACCACTGGGAAAAGGGCAATCAGGCAGGGCACCACCTGGGCTGGAAGAGGGGAAGCTGCCTTGGCCTAGCTGTGGAGGATGAAAGATGGAGTGGCCAGGCCCTCCCTCCCACTAACCCCACCCTCCCATCCCTGTCTAGAGGGGCTGACTCAGCCTGTTCCCAGGCCTAGAACCTTCCCTTTGCTAGACCCTGGATCCTTTGTCTCTGTAGTCATGAGGCTGAAGGGGGTGGGGACAGTGTTGATAAAAGGCACTAGAGGCAGCTCCCACACCCTTCCTCGGAACTGTTGCCCACATGCAGCCCCGGACACAGCCCCTAGCCCAAACCCTACCCTTCTTCCTCGGAGGGGCCCCTCGAGACACTGGGCTGCGGGTGCCTGTCATTAAGATGGGCACAGGGTGGGAGGGCTTCCAGCGGACCCTGAAGGAAGTCGCCTACATCCTCCTCTGCTGCTGGTGTATCAAGGAACTGCTGGATTAATGGTAGCAGGGAACTGCCTCCTCTCCCCACCAGCACCATGGCTGGCATCGCTCAGGTGGGCAGGGTAGAGTAAACAGGAGGCATAGCTGCAGCTTCTGTGGCAGAGCTTGCCTTAGCTTCTCATTCTCTTCTTTAGCCCCCAGCCCAATTGCCATCAAGACTCCTGAAGCCAGCTGTGCTTGACCAAGGATGGGCCATAAACAATGAGTAAACAGTAAAGTGTGGATCCTGCTTTGAGCTGTGTCATCTAGCAGACCTGCCTCATCTCTGAGCCTCCTTCATTCCCAACCCCTGCCTCTGGTGGACCTCTGGTGGGCAGGAGCTTGGACTGCTCTGGCTAGGACCCCAGTAAGATTGTGGCAAGACCTGGCACTCCTCCAAGCTTGGCACAGTGAGCCCACCAGCTCAGATGGTTGATCTTACCATACCCTCATAGTACCAAGAATGGACTGCCCCCTAAGAAACCTGTTTGAGAATCACTGAATTATAAATATAATCCATAGGCCTTGAGGCCCAAGATTATAAGTGTCTAAAGGGGAATCAGAAAAAGTCAGCACTAGAACGGTCTGGGAGCAAGGGTGCAGACCAGGGAGGGAAGGAGCTTGTCCTGAATAGAACCAAGATTGAAAGCCAGGTTTTCTGACTCACTGGTTCCTGAGTGGGGAGGGTGGAAGACAGTTCAGGTTCCTCTCAATCTGTGGGTAAGGAGGGGACCCAGCTTGAGTAGGGTCTTCATCTGTGAGGCCAAGGGTGTGTGGAAACCCAGAGGACCCAGCCCTTTCCCAAATAGAAGACCTGGTCCAGGCAGCTTCCTGCCTCTGAGGATCTTGGGGAAAGCACTGCGCTGAGGCTAGTCCCCAGCTCATCAAGGAAGTAGGACCCCATGAGCTACAAGAGCTCCCAGCTCACATACAAAGTTACCAGAGAAAGACACCTGTGTGGCCACACAGGTCCCTCAGGCTTATCATGACACAGCCCTATCAGGACATAAACAGCTAGA
TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCCTGTAGTCCTAGTTACTCGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAATATATATATATATATGTATATATATATATACACACACACATACACAGGCCGGGCGTAGTGGCTTACACCTGTAATCCCTGCACTTTGGGAGGCTGAGGCAGGTGGATCGCCTGAGGTCAGGAGATCGAGACCAGCCTAACCAAAATGATGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCGGAGCGTGGTGGCAGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTATACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCCAAACAAACAAAAAAAAAATACAGTTATTCAGTTGTACTAGCCACATTTCAAATGACCACCATATTAGACAGTAGAGATACAGAACATTTCCATCATCACAGGAAGTTCTGGCCAGGCACAGTGGCTCACACCTGTAACCCCAGCACTCTGGGAGGCCGAGGTGGGCTGATCAATGCCTGTAGTCCCAGCTACTCAGGCTGAGGCGGGAAGATCGCTTGAGCCAGGGAAGTCGAGGCTGTAGTGAGCCATGATCATGCCAGTGCACTCCAGCCTGGGCAACAGTAAAGGCCCTGTCTAAAAAAAATAGGGCTGGGCACGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCACATCACGAGGTCAGGATTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAATCTGGGAAGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATAGGGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGCGGGCGGATCATGAAGTCAGGAGATGGAGACCATCCTGGCTACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACAGTGGTGGGCGCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAATAGACGGTTTCTCCCTGTCCTCAAGCTCCACCCTTGCACTAGAGGGTGGTTCAAGAATGGAAAGCAGAGAGTGGAGAAGATGAAGTCCTTCTCTTTCTCTTTGCATACATAGAGCAAGCTATACCAGAGAATCAGATAGCAAGCCCTCCCTCAGAGGCCAAGGGAGCAGAAGAGCCATGGATGGGCCCCTTCCCAGGACAGCAGGGGTAGAAGTGGGAAAGGTGAGCATTTGTGACTATTCTATTACTCTGACCTCCCAGGACTGGACCTACAGAGACATCTGGGATTTTCTGTGTCAGCTGTTTGTCCCATACTGTATCCTGTATGACCGAGGGTAAGGGTATTAGGGGAAGGGAATGGGTAAGGGAGTTTTTAGGGTGCTGGGATAGGGAGGGCCAATAGGATCGCCCACCCTACCACATGCTTGCCCTCCACCCTCCCTGCTCCAGATACACATCACTGGGGAGTCGGGAGAATACCGTGCGGAACCCGGCCCTGAAGTGCCTGAGCCCAGGAGGACACCCCACATACCGTCCAGCCTATCTACTGGAGAACGAAGAAGAGGAGCGGAACTCCCGCACATGACCTCCCACCCTAGGAGGGAGGGAAGGACACCGTCCTAGGGTATAACCTGGCAATAAACCGTGCCTCTCACTGTGCCTGTTGCTCTAGCTGTGTCTTCCTGCTCCAGAGGATGGGAGAAGCAGAAGTGGGTCAAATGCTGCCAGCTCTGACTGGCTGTGCTCACTCTAAGGGGCCCAGGGGCAGGGCAGAACAGGCTGGAAAGGAGCTCTCACTGATGGTTCTCAATGTCAGCCTCAGCAGGAGCCCACCAGAGGGCGAAAGCAGGAGTTGTGCCAACCACTGGGAAAAGGGCAATCAGGCAGGGCACCACCTGGGCTGGAAGAGGGGAAGCTGCCTTGGCCTAGCTGTGGAGGATGAAAGATGGAGTGGCCAGGCCCTCCCTCCCACTAACCCCACCCTCCCATCCCTGTCTAGAGGGGCTGACTCAGCCTGTTCCCAGGCCTAGAACCTTCCCTTTGCTAGACCCTGGATCCTTTGTCTCTGTAGTCATGAGGCTGAAGGGGGTGGGGACAGTGTTGATAAAAGGCACTAGAGGCAGCTCCCACACCCTTCCTCGGAACTGTTGCCCACATGCAGCCCCGGACACAGCCCCTAGCCCAAACCCTACCCTTCTTCCTCGGAGGGGCCCCTCGAGACACTGGGCTGCGGGTGCCTGTCATTAAGATGGGCACAGGGTGGGAGGGCTTCCAGCGGACCCTGAAGGAAGTCGCCTACATCCTCCTCTGCTGCTGGTGTATCAAGGAACTGCTGGATTAATGGTAGCAGGGAACTGCCTCCTCTCCCCACCAGCACCATGGCTGGCATCGCTCAGGTGGGCAGGGTAGAGTAAACAGGAGGCATAGCTGCAGCTTCTGTGGCAGAGCTTGCCTTAGCTTCTCATTCTCTTCTTTAGCCCCCAGCCCAATTGCCATCAAGACTCCTGAAGCCAGCTGTGCTTGACCAAGGATGGGCCATAAACAATGAGTAAACAGTAAAGTGTGGATCCTGCTTTGAGCTGTGTCATCTAGCAGACCTGCCTCATCTCTGAGCCTCCTTCATTCCCAACCCCTGCCTCTGGTGGACCTCTGGTGGGCAGGAGCTTGGACTGCTCTGGCTAGGACCCCAGTAAGATTGTGGCAAGACCTGGCACTCCTCCAAGCTTGGCACAGTGAGCCCACCAGCTCAGATGGTTGATCTTACCATACCCTCATAGTACCAAGAATGGACTGCCCCCTAAGAAACCTGTTTGAGAATCACTGAATTATAAATATAATCCATAGGCCTTGAGGCCCAAGATTATAAGTGTCTAAAGGGGAATCAGAAAAAGTCAGCACTAGAACGGTCTGGGAGCAAGGGTGCAGACCAGGGAGGGAAGGAGCTTGTCCTGAATAGAACCAAGATTGAAAGCCAGGTTTTCTGACTCACTGGTTCCTGAGTGGGGAGGGTGGAAGACAGTTCAGGTTCCTCTCAATCTGTGGGTAAGGAGGGGACCCAGCTTGAGTAGGGTCTTCATCTGTGAGGCCAAGGGTGTGTGGAAACCCAGAGGACCCAGCCCTTTCCCAAATAGAAGACCTGGTCCAGGCAGCTTCCTGCCTCTGAGGATCTTGGGGAAAGCACTGCGCTGAGGCTAGTCCCCAGCTCATCAAGGAAGTAGGACCCCATGAGCTACAAGAGCTCCCAGCTCACATACAAAGTTACCAGAGAAAGACACCTGTGTGGCCACACAGGTCCCTCAGGCTTATCATGACACAGCCCTATCAGGACATAAACAGCTAGA
Task1_train_1587
A sequence alteration has been identified in FLAD1 (flavin adenine dinucleotide synthetase 1) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Multiple acyl-CoA dehydrogenase deficiency
TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCCTGTAGTCCTAGTTACTCGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAATATATATATATATATGTATATATATATATACACACACACATACACAGGCCGGGCGTAGTGGCTTACACCTGTAATCCCTGCACTTTGGGAGGCTGAGGCAGGTGGATCGCCTGAGGTCAGGAGATCGAGACCAGCCTAACCAAAATGATGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCGGAGCGTGGTGGCAGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTATACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCCAAACAAACAAAAAAAAAATACAGTTATTCAGTTGTACTAGCCACATTTCAAATGACCACCATATTAGACAGTAGAGATACAGAACATTTCCATCATCACAGGAAGTTCTGGCCAGGCACAGTGGCTCACACCTGTAACCCCAGCACTCTGGGAGGCCGAGGTGGGCTGATCAATGCCTGTAGTCCCAGCTACTCAGGCTGAGGCGGGAAGATCGCTTGAGCCAGGGAAGTCGAGGCTGTAGTGAGCCATGATCATGCCAGTGCACTCCAGCCTGGGCAACAGTAAAGGCCCTGTCTAAAAAAAATAGGGCTGGGCACGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCACATCACGAGGTCAGGATTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAATCTGGGAAGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATAGGGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGCGGGCGGATCATGAAGTCAGGAGATGGAGACCATCCTGGCTACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACAGTGGTGGGCGCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAATAGACGGTTTCTCCCTGTCCTCAAGCTCCACCCTTGCACTAGAGGGTGGTTCAAGAATGGAAAGCAGAGAGTGGAGAAGATGAAGTCCTTCTCTTTCTCTTTGCATACATAGAGCAAGCTATACCAGAGAATCAGATAGCAAGCCCTCCCTCAGAGGCCAAGGGAGCAGAAGAGCCATGGATGGGCCCCTTCCCAGGACAGCAGGGGTAGAAGTGGGAAAGGTGAGCATTTGTGACTATTCTATTACTCTGACCTCCCAGGACTGGACCTACAGAGACATCTGGGATTTTCTGCGTCAGCTGTTTGTCCCATACTGTATCCTGTATGACCGAGGGTAAGGGTATTAGGGGAAGGGAATGGGTAAGGGAGTTTTTAGGGTGCTGGGATAGGGAGGGCCAATAGGATCGCCCACCCTACCACATGCTTGCCCTCCACCCTCCCTGCTCCAGATACACATCACTGGGGAGTCGGGAGAATACCGTGCGGAACCCGGCCCTGAAGTGCCTGAGCCCAGGAGGACACCCCACATACCGTCCAGCCTATCTACTGGAGAACGAAGAAGAGGAGCGGAACTCCCGCACATGACCTCCCACCCTAGGAGGGAGGGAAGGACACCGTCCTAGGGTATAACCTGGCAATAAACCGTGCCTCTCACTGTGCCTGTTGCTCTAGCTGTGTCTTCCTGCTCCAGAGGATGGGAGAAGCAGAAGTGGGTCAAATGCTGCCAGCTCTGACTGGCTGTGCTCACTCTAAGGGGCCCAGGGGCAGGGCAGAACAGGCTGGAAAGGAGCTCTCACTGATGGTTCTCAATGTCAGCCTCAGCAGGAGCCCACCAGAGGGCGAAAGCAGGAGTTGTGCCAACCACTGGGAAAAGGGCAATCAGGCAGGGCACCACCTGGGCTGGAAGAGGGGAAGCTGCCTTGGCCTAGCTGTGGAGGATGAAAGATGGAGTGGCCAGGCCCTCCCTCCCACTAACCCCACCCTCCCATCCCTGTCTAGAGGGGCTGACTCAGCCTGTTCCCAGGCCTAGAACCTTCCCTTTGCTAGACCCTGGATCCTTTGTCTCTGTAGTCATGAGGCTGAAGGGGGTGGGGACAGTGTTGATAAAAGGCACTAGAGGCAGCTCCCACACCCTTCCTCGGAACTGTTGCCCACATGCAGCCCCGGACACAGCCCCTAGCCCAAACCCTACCCTTCTTCCTCGGAGGGGCCCCTCGAGACACTGGGCTGCGGGTGCCTGTCATTAAGATGGGCACAGGGTGGGAGGGCTTCCAGCGGACCCTGAAGGAAGTCGCCTACATCCTCCTCTGCTGCTGGTGTATCAAGGAACTGCTGGATTAATGGTAGCAGGGAACTGCCTCCTCTCCCCACCAGCACCATGGCTGGCATCGCTCAGGTGGGCAGGGTAGAGTAAACAGGAGGCATAGCTGCAGCTTCTGTGGCAGAGCTTGCCTTAGCTTCTCATTCTCTTCTTTAGCCCCCAGCCCAATTGCCATCAAGACTCCTGAAGCCAGCTGTGCTTGACCAAGGATGGGCCATAAACAATGAGTAAACAGTAAAGTGTGGATCCTGCTTTGAGCTGTGTCATCTAGCAGACCTGCCTCATCTCTGAGCCTCCTTCATTCCCAACCCCTGCCTCTGGTGGACCTCTGGTGGGCAGGAGCTTGGACTGCTCTGGCTAGGACCCCAGTAAGATTGTGGCAAGACCTGGCACTCCTCCAAGCTTGGCACAGTGAGCCCACCAGCTCAGATGGTTGATCTTACCATACCCTCATAGTACCAAGAATGGACTGCCCCCTAAGAAACCTGTTTGAGAATCACTGAATTATAAATATAATCCATAGGCCTTGAGGCCCAAGATTATAAGTGTCTAAAGGGGAATCAGAAAAAGTCAGCACTAGAACGGTCTGGGAGCAAGGGTGCAGACCAGGGAGGGAAGGAGCTTGTCCTGAATAGAACCAAGATTGAAAGCCAGGTTTTCTGACTCACTGGTTCCTGAGTGGGGAGGGTGGAAGACAGTTCAGGTTCCTCTCAATCTGTGGGTAAGGAGGGGACCCAGCTTGAGTAGGGTCTTCATCTGTGAGGCCAAGGGTGTGTGGAAACCCAGAGGACCCAGCCCTTTCCCAAATAGAAGACCTGGTCCAGGCAGCTTCCTGCCTCTGAGGATCTTGGGGAAAGCACTGCGCTGAGGCTAGTCCCCAGCTCATCAAGGAAGTAGGACCCCATGAGCTACAAGAGCTCCCAGCTCACATACAAAGTTACCAGAGAAAGACACCTGTGTGGCCACACAGGTCCCTCAGGCTTATCATGACACAGCCCTATCAGGACATAAACAGCTAGA
TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCCTGTAGTCCTAGTTACTCGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAATATATATATATATATGTATATATATATATACACACACACATACACAGGCCGGGCGTAGTGGCTTACACCTGTAATCCCTGCACTTTGGGAGGCTGAGGCAGGTGGATCGCCTGAGGTCAGGAGATCGAGACCAGCCTAACCAAAATGATGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCGGAGCGTGGTGGCAGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTATACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCCAAACAAACAAAAAAAAAATACAGTTATTCAGTTGTACTAGCCACATTTCAAATGACCACCATATTAGACAGTAGAGATACAGAACATTTCCATCATCACAGGAAGTTCTGGCCAGGCACAGTGGCTCACACCTGTAACCCCAGCACTCTGGGAGGCCGAGGTGGGCTGATCAATGCCTGTAGTCCCAGCTACTCAGGCTGAGGCGGGAAGATCGCTTGAGCCAGGGAAGTCGAGGCTGTAGTGAGCCATGATCATGCCAGTGCACTCCAGCCTGGGCAACAGTAAAGGCCCTGTCTAAAAAAAATAGGGCTGGGCACGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCACATCACGAGGTCAGGATTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAATCTGGGAAGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATAGGGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGCGGGCGGATCATGAAGTCAGGAGATGGAGACCATCCTGGCTACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACAGTGGTGGGCGCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAATAGACGGTTTCTCCCTGTCCTCAAGCTCCACCCTTGCACTAGAGGGTGGTTCAAGAATGGAAAGCAGAGAGTGGAGAAGATGAAGTCCTTCTCTTTCTCTTTGCATACATAGAGCAAGCTATACCAGAGAATCAGATAGCAAGCCCTCCCTCAGAGGCCAAGGGAGCAGAAGAGCCATGGATGGGCCCCTTCCCAGGACAGCAGGGGTAGAAGTGGGAAAGGTGAGCATTTGTGACTATTCTATTACTCTGACCTCCCAGGACTGGACCTACAGAGACATCTGGGATTTTCTGTGTCAGCTGTTTGTCCCATACTGTATCCTGTATGACCGAGGGTAAGGGTATTAGGGGAAGGGAATGGGTAAGGGAGTTTTTAGGGTGCTGGGATAGGGAGGGCCAATAGGATCGCCCACCCTACCACATGCTTGCCCTCCACCCTCCCTGCTCCAGATACACATCACTGGGGAGTCGGGAGAATACCGTGCGGAACCCGGCCCTGAAGTGCCTGAGCCCAGGAGGACACCCCACATACCGTCCAGCCTATCTACTGGAGAACGAAGAAGAGGAGCGGAACTCCCGCACATGACCTCCCACCCTAGGAGGGAGGGAAGGACACCGTCCTAGGGTATAACCTGGCAATAAACCGTGCCTCTCACTGTGCCTGTTGCTCTAGCTGTGTCTTCCTGCTCCAGAGGATGGGAGAAGCAGAAGTGGGTCAAATGCTGCCAGCTCTGACTGGCTGTGCTCACTCTAAGGGGCCCAGGGGCAGGGCAGAACAGGCTGGAAAGGAGCTCTCACTGATGGTTCTCAATGTCAGCCTCAGCAGGAGCCCACCAGAGGGCGAAAGCAGGAGTTGTGCCAACCACTGGGAAAAGGGCAATCAGGCAGGGCACCACCTGGGCTGGAAGAGGGGAAGCTGCCTTGGCCTAGCTGTGGAGGATGAAAGATGGAGTGGCCAGGCCCTCCCTCCCACTAACCCCACCCTCCCATCCCTGTCTAGAGGGGCTGACTCAGCCTGTTCCCAGGCCTAGAACCTTCCCTTTGCTAGACCCTGGATCCTTTGTCTCTGTAGTCATGAGGCTGAAGGGGGTGGGGACAGTGTTGATAAAAGGCACTAGAGGCAGCTCCCACACCCTTCCTCGGAACTGTTGCCCACATGCAGCCCCGGACACAGCCCCTAGCCCAAACCCTACCCTTCTTCCTCGGAGGGGCCCCTCGAGACACTGGGCTGCGGGTGCCTGTCATTAAGATGGGCACAGGGTGGGAGGGCTTCCAGCGGACCCTGAAGGAAGTCGCCTACATCCTCCTCTGCTGCTGGTGTATCAAGGAACTGCTGGATTAATGGTAGCAGGGAACTGCCTCCTCTCCCCACCAGCACCATGGCTGGCATCGCTCAGGTGGGCAGGGTAGAGTAAACAGGAGGCATAGCTGCAGCTTCTGTGGCAGAGCTTGCCTTAGCTTCTCATTCTCTTCTTTAGCCCCCAGCCCAATTGCCATCAAGACTCCTGAAGCCAGCTGTGCTTGACCAAGGATGGGCCATAAACAATGAGTAAACAGTAAAGTGTGGATCCTGCTTTGAGCTGTGTCATCTAGCAGACCTGCCTCATCTCTGAGCCTCCTTCATTCCCAACCCCTGCCTCTGGTGGACCTCTGGTGGGCAGGAGCTTGGACTGCTCTGGCTAGGACCCCAGTAAGATTGTGGCAAGACCTGGCACTCCTCCAAGCTTGGCACAGTGAGCCCACCAGCTCAGATGGTTGATCTTACCATACCCTCATAGTACCAAGAATGGACTGCCCCCTAAGAAACCTGTTTGAGAATCACTGAATTATAAATATAATCCATAGGCCTTGAGGCCCAAGATTATAAGTGTCTAAAGGGGAATCAGAAAAAGTCAGCACTAGAACGGTCTGGGAGCAAGGGTGCAGACCAGGGAGGGAAGGAGCTTGTCCTGAATAGAACCAAGATTGAAAGCCAGGTTTTCTGACTCACTGGTTCCTGAGTGGGGAGGGTGGAAGACAGTTCAGGTTCCTCTCAATCTGTGGGTAAGGAGGGGACCCAGCTTGAGTAGGGTCTTCATCTGTGAGGCCAAGGGTGTGTGGAAACCCAGAGGACCCAGCCCTTTCCCAAATAGAAGACCTGGTCCAGGCAGCTTCCTGCCTCTGAGGATCTTGGGGAAAGCACTGCGCTGAGGCTAGTCCCCAGCTCATCAAGGAAGTAGGACCCCATGAGCTACAAGAGCTCCCAGCTCACATACAAAGTTACCAGAGAAAGACACCTGTGTGGCCACACAGGTCCCTCAGGCTTATCATGACACAGCCCTATCAGGACATAAACAGCTAGA
Task1_train_1588
Assess the clinical impact of this variant on gene FLAD1 (flavin adenine dinucleotide synthetase 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Myopathy with abnormal lipid metabolism
TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCCTGTAGTCCTAGTTACTCGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAATATATATATATATATGTATATATATATATACACACACACATACACAGGCCGGGCGTAGTGGCTTACACCTGTAATCCCTGCACTTTGGGAGGCTGAGGCAGGTGGATCGCCTGAGGTCAGGAGATCGAGACCAGCCTAACCAAAATGATGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCGGAGCGTGGTGGCAGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTATACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCCAAACAAACAAAAAAAAAATACAGTTATTCAGTTGTACTAGCCACATTTCAAATGACCACCATATTAGACAGTAGAGATACAGAACATTTCCATCATCACAGGAAGTTCTGGCCAGGCACAGTGGCTCACACCTGTAACCCCAGCACTCTGGGAGGCCGAGGTGGGCTGATCAATGCCTGTAGTCCCAGCTACTCAGGCTGAGGCGGGAAGATCGCTTGAGCCAGGGAAGTCGAGGCTGTAGTGAGCCATGATCATGCCAGTGCACTCCAGCCTGGGCAACAGTAAAGGCCCTGTCTAAAAAAAATAGGGCTGGGCACGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCACATCACGAGGTCAGGATTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAATCTGGGAAGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATAGGGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGCGGGCGGATCATGAAGTCAGGAGATGGAGACCATCCTGGCTACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACAGTGGTGGGCGCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAATAGACGGTTTCTCCCTGTCCTCAAGCTCCACCCTTGCACTAGAGGGTGGTTCAAGAATGGAAAGCAGAGAGTGGAGAAGATGAAGTCCTTCTCTTTCTCTTTGCATACATAGAGCAAGCTATACCAGAGAATCAGATAGCAAGCCCTCCCTCAGAGGCCAAGGGAGCAGAAGAGCCATGGATGGGCCCCTTCCCAGGACAGCAGGGGTAGAAGTGGGAAAGGTGAGCATTTGTGACTATTCTATTACTCTGACCTCCCAGGACTGGACCTACAGAGACATCTGGGATTTTCTGCGTCAGCTGTTTGTCCCATACTGTATCCTGTATGACCGAGGGTAAGGGTATTAGGGGAAGGGAATGGGTAAGGGAGTTTTTAGGGTGCTGGGATAGGGAGGGCCAATAGGATCGCCCACCCTACCACATGCTTGCCCTCCACCCTCCCTGCTCCAGATACACATCACTGGGGAGTCGGGAGAATACCGTGCGGAACCCGGCCCTGAAGTGCCTGAGCCCAGGAGGACACCCCACATACCGTCCAGCCTATCTACTGGAGAACGAAGAAGAGGAGCGGAACTCCCGCACATGACCTCCCACCCTAGGAGGGAGGGAAGGACACCGTCCTAGGGTATAACCTGGCAATAAACCGTGCCTCTCACTGTGCCTGTTGCTCTAGCTGTGTCTTCCTGCTCCAGAGGATGGGAGAAGCAGAAGTGGGTCAAATGCTGCCAGCTCTGACTGGCTGTGCTCACTCTAAGGGGCCCAGGGGCAGGGCAGAACAGGCTGGAAAGGAGCTCTCACTGATGGTTCTCAATGTCAGCCTCAGCAGGAGCCCACCAGAGGGCGAAAGCAGGAGTTGTGCCAACCACTGGGAAAAGGGCAATCAGGCAGGGCACCACCTGGGCTGGAAGAGGGGAAGCTGCCTTGGCCTAGCTGTGGAGGATGAAAGATGGAGTGGCCAGGCCCTCCCTCCCACTAACCCCACCCTCCCATCCCTGTCTAGAGGGGCTGACTCAGCCTGTTCCCAGGCCTAGAACCTTCCCTTTGCTAGACCCTGGATCCTTTGTCTCTGTAGTCATGAGGCTGAAGGGGGTGGGGACAGTGTTGATAAAAGGCACTAGAGGCAGCTCCCACACCCTTCCTCGGAACTGTTGCCCACATGCAGCCCCGGACACAGCCCCTAGCCCAAACCCTACCCTTCTTCCTCGGAGGGGCCCCTCGAGACACTGGGCTGCGGGTGCCTGTCATTAAGATGGGCACAGGGTGGGAGGGCTTCCAGCGGACCCTGAAGGAAGTCGCCTACATCCTCCTCTGCTGCTGGTGTATCAAGGAACTGCTGGATTAATGGTAGCAGGGAACTGCCTCCTCTCCCCACCAGCACCATGGCTGGCATCGCTCAGGTGGGCAGGGTAGAGTAAACAGGAGGCATAGCTGCAGCTTCTGTGGCAGAGCTTGCCTTAGCTTCTCATTCTCTTCTTTAGCCCCCAGCCCAATTGCCATCAAGACTCCTGAAGCCAGCTGTGCTTGACCAAGGATGGGCCATAAACAATGAGTAAACAGTAAAGTGTGGATCCTGCTTTGAGCTGTGTCATCTAGCAGACCTGCCTCATCTCTGAGCCTCCTTCATTCCCAACCCCTGCCTCTGGTGGACCTCTGGTGGGCAGGAGCTTGGACTGCTCTGGCTAGGACCCCAGTAAGATTGTGGCAAGACCTGGCACTCCTCCAAGCTTGGCACAGTGAGCCCACCAGCTCAGATGGTTGATCTTACCATACCCTCATAGTACCAAGAATGGACTGCCCCCTAAGAAACCTGTTTGAGAATCACTGAATTATAAATATAATCCATAGGCCTTGAGGCCCAAGATTATAAGTGTCTAAAGGGGAATCAGAAAAAGTCAGCACTAGAACGGTCTGGGAGCAAGGGTGCAGACCAGGGAGGGAAGGAGCTTGTCCTGAATAGAACCAAGATTGAAAGCCAGGTTTTCTGACTCACTGGTTCCTGAGTGGGGAGGGTGGAAGACAGTTCAGGTTCCTCTCAATCTGTGGGTAAGGAGGGGACCCAGCTTGAGTAGGGTCTTCATCTGTGAGGCCAAGGGTGTGTGGAAACCCAGAGGACCCAGCCCTTTCCCAAATAGAAGACCTGGTCCAGGCAGCTTCCTGCCTCTGAGGATCTTGGGGAAAGCACTGCGCTGAGGCTAGTCCCCAGCTCATCAAGGAAGTAGGACCCCATGAGCTACAAGAGCTCCCAGCTCACATACAAAGTTACCAGAGAAAGACACCTGTGTGGCCACACAGGTCCCTCAGGCTTATCATGACACAGCCCTATCAGGACATAAACAGCTAGA
TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCCTGTAGTCCTAGTTACTCGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAATATATATATATATATGTATATATATATATACACACACACATACACAGGCCGGGCGTAGTGGCTTACACCTGTAATCCCTGCACTTTGGGAGGCTGAGGCAGGTGGATCGCCTGAGGTCAGGAGATCGAGACCAGCCTAACCAAAATGATGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCGGAGCGTGGTGGCAGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTATACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCCAAACAAACAAAAAAAAAATACAGTTATTCAGTTGTACTAGCCACATTTCAAATGACCACCATATTAGACAGTAGAGATACAGAACATTTCCATCATCACAGGAAGTTCTGGCCAGGCACAGTGGCTCACACCTGTAACCCCAGCACTCTGGGAGGCCGAGGTGGGCTGATCAATGCCTGTAGTCCCAGCTACTCAGGCTGAGGCGGGAAGATCGCTTGAGCCAGGGAAGTCGAGGCTGTAGTGAGCCATGATCATGCCAGTGCACTCCAGCCTGGGCAACAGTAAAGGCCCTGTCTAAAAAAAATAGGGCTGGGCACGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCACATCACGAGGTCAGGATTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAATCTGGGAAGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATAGGGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGCGGGCGGATCATGAAGTCAGGAGATGGAGACCATCCTGGCTACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACAGTGGTGGGCGCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAATAGACGGTTTCTCCCTGTCCTCAAGCTCCACCCTTGCACTAGAGGGTGGTTCAAGAATGGAAAGCAGAGAGTGGAGAAGATGAAGTCCTTCTCTTTCTCTTTGCATACATAGAGCAAGCTATACCAGAGAATCAGATAGCAAGCCCTCCCTCAGAGGCCAAGGGAGCAGAAGAGCCATGGATGGGCCCCTTCCCAGGACAGCAGGGGTAGAAGTGGGAAAGGTGAGCATTTGTGACTATTCTATTACTCTGACCTCCCAGGACTGGACCTACAGAGACATCTGGGATTTTCTGTGTCAGCTGTTTGTCCCATACTGTATCCTGTATGACCGAGGGTAAGGGTATTAGGGGAAGGGAATGGGTAAGGGAGTTTTTAGGGTGCTGGGATAGGGAGGGCCAATAGGATCGCCCACCCTACCACATGCTTGCCCTCCACCCTCCCTGCTCCAGATACACATCACTGGGGAGTCGGGAGAATACCGTGCGGAACCCGGCCCTGAAGTGCCTGAGCCCAGGAGGACACCCCACATACCGTCCAGCCTATCTACTGGAGAACGAAGAAGAGGAGCGGAACTCCCGCACATGACCTCCCACCCTAGGAGGGAGGGAAGGACACCGTCCTAGGGTATAACCTGGCAATAAACCGTGCCTCTCACTGTGCCTGTTGCTCTAGCTGTGTCTTCCTGCTCCAGAGGATGGGAGAAGCAGAAGTGGGTCAAATGCTGCCAGCTCTGACTGGCTGTGCTCACTCTAAGGGGCCCAGGGGCAGGGCAGAACAGGCTGGAAAGGAGCTCTCACTGATGGTTCTCAATGTCAGCCTCAGCAGGAGCCCACCAGAGGGCGAAAGCAGGAGTTGTGCCAACCACTGGGAAAAGGGCAATCAGGCAGGGCACCACCTGGGCTGGAAGAGGGGAAGCTGCCTTGGCCTAGCTGTGGAGGATGAAAGATGGAGTGGCCAGGCCCTCCCTCCCACTAACCCCACCCTCCCATCCCTGTCTAGAGGGGCTGACTCAGCCTGTTCCCAGGCCTAGAACCTTCCCTTTGCTAGACCCTGGATCCTTTGTCTCTGTAGTCATGAGGCTGAAGGGGGTGGGGACAGTGTTGATAAAAGGCACTAGAGGCAGCTCCCACACCCTTCCTCGGAACTGTTGCCCACATGCAGCCCCGGACACAGCCCCTAGCCCAAACCCTACCCTTCTTCCTCGGAGGGGCCCCTCGAGACACTGGGCTGCGGGTGCCTGTCATTAAGATGGGCACAGGGTGGGAGGGCTTCCAGCGGACCCTGAAGGAAGTCGCCTACATCCTCCTCTGCTGCTGGTGTATCAAGGAACTGCTGGATTAATGGTAGCAGGGAACTGCCTCCTCTCCCCACCAGCACCATGGCTGGCATCGCTCAGGTGGGCAGGGTAGAGTAAACAGGAGGCATAGCTGCAGCTTCTGTGGCAGAGCTTGCCTTAGCTTCTCATTCTCTTCTTTAGCCCCCAGCCCAATTGCCATCAAGACTCCTGAAGCCAGCTGTGCTTGACCAAGGATGGGCCATAAACAATGAGTAAACAGTAAAGTGTGGATCCTGCTTTGAGCTGTGTCATCTAGCAGACCTGCCTCATCTCTGAGCCTCCTTCATTCCCAACCCCTGCCTCTGGTGGACCTCTGGTGGGCAGGAGCTTGGACTGCTCTGGCTAGGACCCCAGTAAGATTGTGGCAAGACCTGGCACTCCTCCAAGCTTGGCACAGTGAGCCCACCAGCTCAGATGGTTGATCTTACCATACCCTCATAGTACCAAGAATGGACTGCCCCCTAAGAAACCTGTTTGAGAATCACTGAATTATAAATATAATCCATAGGCCTTGAGGCCCAAGATTATAAGTGTCTAAAGGGGAATCAGAAAAAGTCAGCACTAGAACGGTCTGGGAGCAAGGGTGCAGACCAGGGAGGGAAGGAGCTTGTCCTGAATAGAACCAAGATTGAAAGCCAGGTTTTCTGACTCACTGGTTCCTGAGTGGGGAGGGTGGAAGACAGTTCAGGTTCCTCTCAATCTGTGGGTAAGGAGGGGACCCAGCTTGAGTAGGGTCTTCATCTGTGAGGCCAAGGGTGTGTGGAAACCCAGAGGACCCAGCCCTTTCCCAAATAGAAGACCTGGTCCAGGCAGCTTCCTGCCTCTGAGGATCTTGGGGAAAGCACTGCGCTGAGGCTAGTCCCCAGCTCATCAAGGAAGTAGGACCCCATGAGCTACAAGAGCTCCCAGCTCACATACAAAGTTACCAGAGAAAGACACCTGTGTGGCCACACAGGTCCCTCAGGCTTATCATGACACAGCCCTATCAGGACATAAACAGCTAGA
Task1_train_1589
Consider this mutation in DPM3 (dolichyl-phosphate mannosyltransferase subunit 3, regulatory) on Chromosome 1. Is this a benign change or a disease-causing variant?
Pathogenic; DPM3-congenital disorder of glycosylation
ATGTGCTTGGGCCAAGAGAGTCTTCCATTCTTTCCCACAGGCTAAGGTGATTCAAACTAAATCAACCCAATGTCTCTCCTACCCACTCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCTATGGGTTTCGACTCAGAGATCCCTATATCATGGTAAGCACAACTGGGATGGGGTGACAGGGGTGCAAGATGGAAAACTGGCTCCTCTCCTCATAGCAGTTCTTGTGATTTCAGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACAGGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAAAGAGACCTCCTTGTTTCAGCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGACCAAAGAAAAAGCTTTACTTAGATGATTGATTGGGGCCTAGGAGATGAAATCACTTTTTATTTTTTAGAGATTTTTTTTTTTAATTTTGGAGGTTGGGGTGCAATCTTTAGAATATGCCTTAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCAACCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGATGGCACATGCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGTGATATGAATATGCCTTATATGCTGATATGAATATGCCTTAAAATAAAGTGTTCCCCACCCCTGCCCACGATGGTTCATTCTCTACTCATAATTCTAAACCTGCCTGGTTTGGTGAAGGATAGATCCACAGTTATTCTCAGGTTGGTAGGGTAGGCTCAGAAAAGGTATCTCAAAGAACCAAAAGGTTGGAAAGACCCAGGAAGGCCTTAAAAATAACAAAACTTGGATGTTATGAAGAATGGAACTTAGGCTTCAAGAAAGTACTTCTGGCCGGGTAAGGTGGCTTATGTCTGTAATCACAGCACTTTGGGAGGCCCAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGAACAGCCTGAGCAACACAGCGAGACCCTGTCACTACAAAAAATTAAACATTAGCCTGGTGGCGTGGTGGCATATGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGAACTGTTTGAGCCTGGGAGGGTGAGGCTGCAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAGTAGTACGCCGGGCGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACGAGGTCAGGAGATCAGACCATCCTGGCCAACACGGTGAAACCCCGACTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCAAGGCTCCGTCTCAAAAAAAAAAAAAAAGAAGTACTTCCTACAGGGTTGAAAGGACCAGGAAAGTGAAATGTCATTTCCATCCTGAGAAATATTGAGAAGGGGTCTTTGCCTCCTTGGGAGCAAAAATGGGAACACCAGCAAGATGCAAAGATAAAGGCTGAGATGGCCTCAAGAAGGTGGTTCTTTCACATTCACTTCTCGACCGTTAGTACATAGAATCCCCAATACCCGTTTTCCATACTCAAACTAAACGAAGTTAGAAAATAAACTGGCTCTTTAATGGGAAATGGGAGGAAGGGCTGTCCGCACAGGAATGGGGTTAGGCTGTCAGAAGCGCAGCCCCCTGCGGGCTAAGTCGGCTCGGGCCTCCTGTATCTGGCTCTGCAGCTCGCGTGCGGCGTCCTCGCAGTCATGAAAAGTGGCCACACGATAGCCCACAGTGCCCAGGGCATAGCAGCCGGCGGACACCAGCAAGTAGGCGGGCAGTGGCCACAGGACTTCCTGGCAGGACAAGGGCAGCTCCAGGCCCAAGGCTCCCGTGGTCAGGGCCACCCAGGTGGAGCCCAGGATCGCTAGTCCCCAAAGCCACTGCGCTAATTTCGTCATGGTCACTGCGAGAGAAGGAAGCAATGCTCCCCTGAGGAGCAGAAAGGAAAAGCGGACCAAACTCAACCGAAGCCCGCCCACGGAGAGCATTAAAACCAGCCCTGGCCAGAGGGGAATCGCCGATCCCAGAGGTCCGAACTTGAGTGCCCACAAAAGGTGGAAGGGCCCCTTCCACCTTGCTACCCCCTCTATATTTGAGACCCACTCCCCATCTCTCGCCCTCCCCATTCAGCCTTCAACCTACACTTACCTCTACCCCACGTCTCCCCTTCCCCGCGCGGCCCGGATGTTGGCGTCCGGAAGTCCTCCCTGGTTCACGTTCCGCTTCCGCGCGGCCTTCTGGGAGTTGTAGTTCACATGGCGGCGCCTGGTGTACTCCTGGCCAGCGCCTCAATCTAGGCGGGGGTACAGTGGGCTGTGCTCCGCAAACGGGGAGCAGGCCGGGTCTGGAGAGGCCTCGGCGCTGCTTTCCCACCTTGGGCTACGCTCCAGGCTGGCGTGGGGCTTGAGGACATCCTTAAATGTTGCAACAAGATGGGAATATAATACCATTCCCCTTAAACTCAATTCTCCAGCGCTGAAATCCATTCCTTCATTCACTAGTTCATTCATTCGAAGATTTCTTTCTTTCCATTCTTGACAGGGTCTCTCTATAGTGCCTAGGCGGGACAGAACTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGCTCTGTTGCCCATGCTGGAGTACAGTGGCTCGATCTCAGCTCACTGCAACCTCTGTCTCCCGAGCAGCTGGGATTACAGGCGCGCGCCACCACGCCGGGCTAATTTTTTTATTTTTAGCAGAGAACGGGGATTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGACTGGCCCACCTCAGCCTTCCAAAGTGCTAGGATTACAGGCATGAGCCACAGCGCCCGGCCAGAACATTTCTTGATTACCATGATAGACTTTGGAGATACAGAGATGTCAAGAGACTCGACCCCTTTCAGGTGGAGGGGGAAAGCAGGAGTCAGTGAAGCAGTTGCATTGACAACTAACCATGAAGGCTTGAGATTATTGTTAGAACAGAGGTAGTCATATTTTTACAAGGACAACAACCAATATAACTTGGAGCCAGAGGAAGAAGGGCTCCAGGAGTCTGGGTTTCAAAAAAAAAGAAAAGAAAAGAAAGACCAGAAGAATTACCTGAAGTGGTGAAGGCATTGAAAGAAAGAGTATAATTCTTTAGAACAGTTTTGGGGATGAATTTATTATGTATAGAGAGAAAGAGAGAGAGAGAACAAAGTAAGAGAAAAGGTTAGGCAATTATCAACTTCAGAGGAAACAAAGAGTTATATAAGAAAGGAAAGACAATTGATAAGCCTGTCTTATAAAGACCACATCTGTAGTTTGACAGTTAGGTTTATTAACTTGCCACAACAGAGAGATCACACACTAGAAGAACTGTGGGGCAACTCATTAAAAAGGAAGAAATATGGTCATTCAGATGATATGGTTTGGCTGTGTCCCCACCCAAATTTCAAGTTGATGTGTATCTCCCAGAATTCCCACGTGCGAGGGACCTAAGGGGAGGTAATTGAATCACGGGGGCCAGACTTTCCCGTGCTATTTTCATGATAGTGAATAAGTCTCACAAGATCTGATGAGTTCATCAGGGGTTTCTGCTTTTGCTTCTTCCTCATTTTTCTCTTGCCACCGCCATGTAAGAAGTGCCTTTGTCTCCCGCCATGATTCTGAGGCCTCCCCAGCAAT
ATGTGCTTGGGCCAAGAGAGTCTTCCATTCTTTCCCACAGGCTAAGGTGATTCAAACTAAATCAACCCAATGTCTCTCCTACCCACTCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCTATGGGTTTCGACTCAGAGATCCCTATATCATGGTAAGCACAACTGGGATGGGGTGACAGGGGTGCAAGATGGAAAACTGGCTCCTCTCCTCATAGCAGTTCTTGTGATTTCAGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACAGGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAAAGAGACCTCCTTGTTTCAGCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGACCAAAGAAAAAGCTTTACTTAGATGATTGATTGGGGCCTAGGAGATGAAATCACTTTTTATTTTTTAGAGATTTTTTTTTTTAATTTTGGAGGTTGGGGTGCAATCTTTAGAATATGCCTTAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCAACCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGATGGCACATGCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGTGATATGAATATGCCTTATATGCTGATATGAATATGCCTTAAAATAAAGTGTTCCCCACCCCTGCCCACGATGGTTCATTCTCTACTCATAATTCTAAACCTGCCTGGTTTGGTGAAGGATAGATCCACAGTTATTCTCAGGTTGGTAGGGTAGGCTCAGAAAAGGTATCTCAAAGAACCAAAAGGTTGGAAAGACCCAGGAAGGCCTTAAAAATAACAAAACTTGGATGTTATGAAGAATGGAACTTAGGCTTCAAGAAAGTACTTCTGGCCGGGTAAGGTGGCTTATGTCTGTAATCACAGCACTTTGGGAGGCCCAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGAACAGCCTGAGCAACACAGCGAGACCCTGTCACTACAAAAAATTAAACATTAGCCTGGTGGCGTGGTGGCATATGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGAACTGTTTGAGCCTGGGAGGGTGAGGCTGCAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAGTAGTACGCCGGGCGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACGAGGTCAGGAGATCAGACCATCCTGGCCAACACGGTGAAACCCCGACTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCAAGGCTCCGTCTCAAAAAAAAAAAAAAAGAAGTACTTCCTACAGGGTTGAAAGGACCAGGAAAGTGAAATGTCATTTCCATCCTGAGAAATATTGAGAAGGGGTCTTTGCCTCCTTGGGAGCAAAAATGGGAACACCAGCAAGATGCAAAGATAAAGGCTGAGATGGCCTCAAGAAGGTGGTTCTTTCACATTCACTTCTCGACCGTTAGTACATAGAATCCCCAATACCCGTTTTCCATACTCAAACTAAACGAAGTTAGAAAATAAACTGGCTCTTTAATGGGAAATGGGAGGAAGGGCTGTCCGCACAGGAATGGGGTTAGGCTGTCAGAAGCGCAGCCCCCTGCGGGCTGAGTCGGCTCGGGCCTCCTGTATCTGGCTCTGCAGCTCGCGTGCGGCGTCCTCGCAGTCATGAAAAGTGGCCACACGATAGCCCACAGTGCCCAGGGCATAGCAGCCGGCGGACACCAGCAAGTAGGCGGGCAGTGGCCACAGGACTTCCTGGCAGGACAAGGGCAGCTCCAGGCCCAAGGCTCCCGTGGTCAGGGCCACCCAGGTGGAGCCCAGGATCGCTAGTCCCCAAAGCCACTGCGCTAATTTCGTCATGGTCACTGCGAGAGAAGGAAGCAATGCTCCCCTGAGGAGCAGAAAGGAAAAGCGGACCAAACTCAACCGAAGCCCGCCCACGGAGAGCATTAAAACCAGCCCTGGCCAGAGGGGAATCGCCGATCCCAGAGGTCCGAACTTGAGTGCCCACAAAAGGTGGAAGGGCCCCTTCCACCTTGCTACCCCCTCTATATTTGAGACCCACTCCCCATCTCTCGCCCTCCCCATTCAGCCTTCAACCTACACTTACCTCTACCCCACGTCTCCCCTTCCCCGCGCGGCCCGGATGTTGGCGTCCGGAAGTCCTCCCTGGTTCACGTTCCGCTTCCGCGCGGCCTTCTGGGAGTTGTAGTTCACATGGCGGCGCCTGGTGTACTCCTGGCCAGCGCCTCAATCTAGGCGGGGGTACAGTGGGCTGTGCTCCGCAAACGGGGAGCAGGCCGGGTCTGGAGAGGCCTCGGCGCTGCTTTCCCACCTTGGGCTACGCTCCAGGCTGGCGTGGGGCTTGAGGACATCCTTAAATGTTGCAACAAGATGGGAATATAATACCATTCCCCTTAAACTCAATTCTCCAGCGCTGAAATCCATTCCTTCATTCACTAGTTCATTCATTCGAAGATTTCTTTCTTTCCATTCTTGACAGGGTCTCTCTATAGTGCCTAGGCGGGACAGAACTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGCTCTGTTGCCCATGCTGGAGTACAGTGGCTCGATCTCAGCTCACTGCAACCTCTGTCTCCCGAGCAGCTGGGATTACAGGCGCGCGCCACCACGCCGGGCTAATTTTTTTATTTTTAGCAGAGAACGGGGATTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGACTGGCCCACCTCAGCCTTCCAAAGTGCTAGGATTACAGGCATGAGCCACAGCGCCCGGCCAGAACATTTCTTGATTACCATGATAGACTTTGGAGATACAGAGATGTCAAGAGACTCGACCCCTTTCAGGTGGAGGGGGAAAGCAGGAGTCAGTGAAGCAGTTGCATTGACAACTAACCATGAAGGCTTGAGATTATTGTTAGAACAGAGGTAGTCATATTTTTACAAGGACAACAACCAATATAACTTGGAGCCAGAGGAAGAAGGGCTCCAGGAGTCTGGGTTTCAAAAAAAAAGAAAAGAAAAGAAAGACCAGAAGAATTACCTGAAGTGGTGAAGGCATTGAAAGAAAGAGTATAATTCTTTAGAACAGTTTTGGGGATGAATTTATTATGTATAGAGAGAAAGAGAGAGAGAGAACAAAGTAAGAGAAAAGGTTAGGCAATTATCAACTTCAGAGGAAACAAAGAGTTATATAAGAAAGGAAAGACAATTGATAAGCCTGTCTTATAAAGACCACATCTGTAGTTTGACAGTTAGGTTTATTAACTTGCCACAACAGAGAGATCACACACTAGAAGAACTGTGGGGCAACTCATTAAAAAGGAAGAAATATGGTCATTCAGATGATATGGTTTGGCTGTGTCCCCACCCAAATTTCAAGTTGATGTGTATCTCCCAGAATTCCCACGTGCGAGGGACCTAAGGGGAGGTAATTGAATCACGGGGGCCAGACTTTCCCGTGCTATTTTCATGATAGTGAATAAGTCTCACAAGATCTGATGAGTTCATCAGGGGTTTCTGCTTTTGCTTCTTCCTCATTTTTCTCTTGCCACCGCCATGTAAGAAGTGCCTTTGTCTCCCGCCATGATTCTGAGGCCTCCCCAGCAAT
Task1_train_1590
Chromosome 1 houses a mutation in gene DPM3 (dolichyl-phosphate mannosyltransferase subunit 3, regulatory). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; DPM3-congenital disorder of glycosylation
CTCCTCATAGCAGTTCTTGTGATTTCAGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACAGGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAAAGAGACCTCCTTGTTTCAGCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGACCAAAGAAAAAGCTTTACTTAGATGATTGATTGGGGCCTAGGAGATGAAATCACTTTTTATTTTTTAGAGATTTTTTTTTTTAATTTTGGAGGTTGGGGTGCAATCTTTAGAATATGCCTTAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCAACCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGATGGCACATGCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGTGATATGAATATGCCTTATATGCTGATATGAATATGCCTTAAAATAAAGTGTTCCCCACCCCTGCCCACGATGGTTCATTCTCTACTCATAATTCTAAACCTGCCTGGTTTGGTGAAGGATAGATCCACAGTTATTCTCAGGTTGGTAGGGTAGGCTCAGAAAAGGTATCTCAAAGAACCAAAAGGTTGGAAAGACCCAGGAAGGCCTTAAAAATAACAAAACTTGGATGTTATGAAGAATGGAACTTAGGCTTCAAGAAAGTACTTCTGGCCGGGTAAGGTGGCTTATGTCTGTAATCACAGCACTTTGGGAGGCCCAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGAACAGCCTGAGCAACACAGCGAGACCCTGTCACTACAAAAAATTAAACATTAGCCTGGTGGCGTGGTGGCATATGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGAACTGTTTGAGCCTGGGAGGGTGAGGCTGCAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAGTAGTACGCCGGGCGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACGAGGTCAGGAGATCAGACCATCCTGGCCAACACGGTGAAACCCCGACTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCAAGGCTCCGTCTCAAAAAAAAAAAAAAAGAAGTACTTCCTACAGGGTTGAAAGGACCAGGAAAGTGAAATGTCATTTCCATCCTGAGAAATATTGAGAAGGGGTCTTTGCCTCCTTGGGAGCAAAAATGGGAACACCAGCAAGATGCAAAGATAAAGGCTGAGATGGCCTCAAGAAGGTGGTTCTTTCACATTCACTTCTCGACCGTTAGTACATAGAATCCCCAATACCCGTTTTCCATACTCAAACTAAACGAAGTTAGAAAATAAACTGGCTCTTTAATGGGAAATGGGAGGAAGGGCTGTCCGCACAGGAATGGGGTTAGGCTGTCAGAAGCGCAGCCCCCTGCGGGCTAAGTCGGCTCGGGCCTCCTGTATCTGGCTCTGCAGCTCGCGTGCGGCGTCCTCGCAGTCATGAAAAGTGGCCACACGATAGCCCACAGTGCCCAGGGCATAGCAGCCGGCGGACACCAGCAAGTAGGCGGGCAGTGGCCACAGGACTTCCTGGCAGGACAAGGGCAGCTCCAGGCCCAAGGCTCCCGTGGTCAGGGCCACCCAGGTGGAGCCCAGGATCGCTAGTCCCCAAAGCCACTGCGCTAATTTCGTCATGGTCACTGCGAGAGAAGGAAGCAATGCTCCCCTGAGGAGCAGAAAGGAAAAGCGGACCAAACTCAACCGAAGCCCGCCCACGGAGAGCATTAAAACCAGCCCTGGCCAGAGGGGAATCGCCGATCCCAGAGGTCCGAACTTGAGTGCCCACAAAAGGTGGAAGGGCCCCTTCCACCTTGCTACCCCCTCTATATTTGAGACCCACTCCCCATCTCTCGCCCTCCCCATTCAGCCTTCAACCTACACTTACCTCTACCCCACGTCTCCCCTTCCCCGCGCGGCCCGGATGTTGGCGTCCGGAAGTCCTCCCTGGTTCACGTTCCGCTTCCGCGCGGCCTTCTGGGAGTTGTAGTTCACATGGCGGCGCCTGGTGTACTCCTGGCCAGCGCCTCAATCTAGGCGGGGGTACAGTGGGCTGTGCTCCGCAAACGGGGAGCAGGCCGGGTCTGGAGAGGCCTCGGCGCTGCTTTCCCACCTTGGGCTACGCTCCAGGCTGGCGTGGGGCTTGAGGACATCCTTAAATGTTGCAACAAGATGGGAATATAATACCATTCCCCTTAAACTCAATTCTCCAGCGCTGAAATCCATTCCTTCATTCACTAGTTCATTCATTCGAAGATTTCTTTCTTTCCATTCTTGACAGGGTCTCTCTATAGTGCCTAGGCGGGACAGAACTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGCTCTGTTGCCCATGCTGGAGTACAGTGGCTCGATCTCAGCTCACTGCAACCTCTGTCTCCCGAGCAGCTGGGATTACAGGCGCGCGCCACCACGCCGGGCTAATTTTTTTATTTTTAGCAGAGAACGGGGATTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGACTGGCCCACCTCAGCCTTCCAAAGTGCTAGGATTACAGGCATGAGCCACAGCGCCCGGCCAGAACATTTCTTGATTACCATGATAGACTTTGGAGATACAGAGATGTCAAGAGACTCGACCCCTTTCAGGTGGAGGGGGAAAGCAGGAGTCAGTGAAGCAGTTGCATTGACAACTAACCATGAAGGCTTGAGATTATTGTTAGAACAGAGGTAGTCATATTTTTACAAGGACAACAACCAATATAACTTGGAGCCAGAGGAAGAAGGGCTCCAGGAGTCTGGGTTTCAAAAAAAAAGAAAAGAAAAGAAAGACCAGAAGAATTACCTGAAGTGGTGAAGGCATTGAAAGAAAGAGTATAATTCTTTAGAACAGTTTTGGGGATGAATTTATTATGTATAGAGAGAAAGAGAGAGAGAGAACAAAGTAAGAGAAAAGGTTAGGCAATTATCAACTTCAGAGGAAACAAAGAGTTATATAAGAAAGGAAAGACAATTGATAAGCCTGTCTTATAAAGACCACATCTGTAGTTTGACAGTTAGGTTTATTAACTTGCCACAACAGAGAGATCACACACTAGAAGAACTGTGGGGCAACTCATTAAAAAGGAAGAAATATGGTCATTCAGATGATATGGTTTGGCTGTGTCCCCACCCAAATTTCAAGTTGATGTGTATCTCCCAGAATTCCCACGTGCGAGGGACCTAAGGGGAGGTAATTGAATCACGGGGGCCAGACTTTCCCGTGCTATTTTCATGATAGTGAATAAGTCTCACAAGATCTGATGAGTTCATCAGGGGTTTCTGCTTTTGCTTCTTCCTCATTTTTCTCTTGCCACCGCCATGTAAGAAGTGCCTTTGTCTCCCGCCATGATTCTGAGGCCTCCCCAGCAATGTGGAACTGTAAGTCCAATTAAACCTCTTTTTGTTTGCAGTTTCGGGTATGTCTTTATCAGTAATGTGAAAATGAACTAATACAACAGGATATGGGAAAGGCTTGACTTTAAAATTTATATTTTAAAATTTATTTACTTATTTATTTAGAGTTGAAGTCTCGGTATGTTGCCCAGGCGAAGCTCAAACTTCTGGGCTCAAGTGATCCTCCTGC
CTCCTCATAGCAGTTCTTGTGATTTCAGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACAGGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAAAGAGACCTCCTTGTTTCAGCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGACCAAAGAAAAAGCTTTACTTAGATGATTGATTGGGGCCTAGGAGATGAAATCACTTTTTATTTTTTAGAGATTTTTTTTTTTAATTTTGGAGGTTGGGGTGCAATCTTTAGAATATGCCTTAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCAACCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGATGGCACATGCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGTGATATGAATATGCCTTATATGCTGATATGAATATGCCTTAAAATAAAGTGTTCCCCACCCCTGCCCACGATGGTTCATTCTCTACTCATAATTCTAAACCTGCCTGGTTTGGTGAAGGATAGATCCACAGTTATTCTCAGGTTGGTAGGGTAGGCTCAGAAAAGGTATCTCAAAGAACCAAAAGGTTGGAAAGACCCAGGAAGGCCTTAAAAATAACAAAACTTGGATGTTATGAAGAATGGAACTTAGGCTTCAAGAAAGTACTTCTGGCCGGGTAAGGTGGCTTATGTCTGTAATCACAGCACTTTGGGAGGCCCAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGAACAGCCTGAGCAACACAGCGAGACCCTGTCACTACAAAAAATTAAACATTAGCCTGGTGGCGTGGTGGCATATGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGAACTGTTTGAGCCTGGGAGGGTGAGGCTGCAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAGTAGTACGCCGGGCGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACGAGGTCAGGAGATCAGACCATCCTGGCCAACACGGTGAAACCCCGACTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCAAGGCTCCGTCTCAAAAAAAAAAAAAAAGAAGTACTTCCTACAGGGTTGAAAGGACCAGGAAAGTGAAATGTCATTTCCATCCTGAGAAATATTGAGAAGGGGTCTTTGCCTCCTTGGGAGCAAAAATGGGAACACCAGCAAGATGCAAAGATAAAGGCTGAGATGGCCTCAAGAAGGTGGTTCTTTCACATTCACTTCTCGACCGTTAGTACATAGAATCCCCAATACCCGTTTTCCATACTCAAACTAAACGAAGTTAGAAAATAAACTGGCTCTTTAATGGGAAATGGGAGGAAGGGCTGTCCGCACAGGAATGGGGTTAGGCTGTCAGAAGCGCAGCCCCCTGCGGGCTAAGTCGGCTCGGGCCTCCTGTATCTGGCTCTGCAGCTCGCGTGCGGCGTCCTCGCAGTCATGAAAAGTGGCCACACGATAGCCCACAGTGCCCAGGGCATAGCAGCCGGCGGACACCAGCAAGTAGGCGGGCAGTGGCCACAGGACTTCCTGGCAGGACAAGGGCAGCTCCAGGCCCAAGGCTCCCGTGGTCAGGGCCACCCAGGTGGAGCCCGGGATCGCTAGTCCCCAAAGCCACTGCGCTAATTTCGTCATGGTCACTGCGAGAGAAGGAAGCAATGCTCCCCTGAGGAGCAGAAAGGAAAAGCGGACCAAACTCAACCGAAGCCCGCCCACGGAGAGCATTAAAACCAGCCCTGGCCAGAGGGGAATCGCCGATCCCAGAGGTCCGAACTTGAGTGCCCACAAAAGGTGGAAGGGCCCCTTCCACCTTGCTACCCCCTCTATATTTGAGACCCACTCCCCATCTCTCGCCCTCCCCATTCAGCCTTCAACCTACACTTACCTCTACCCCACGTCTCCCCTTCCCCGCGCGGCCCGGATGTTGGCGTCCGGAAGTCCTCCCTGGTTCACGTTCCGCTTCCGCGCGGCCTTCTGGGAGTTGTAGTTCACATGGCGGCGCCTGGTGTACTCCTGGCCAGCGCCTCAATCTAGGCGGGGGTACAGTGGGCTGTGCTCCGCAAACGGGGAGCAGGCCGGGTCTGGAGAGGCCTCGGCGCTGCTTTCCCACCTTGGGCTACGCTCCAGGCTGGCGTGGGGCTTGAGGACATCCTTAAATGTTGCAACAAGATGGGAATATAATACCATTCCCCTTAAACTCAATTCTCCAGCGCTGAAATCCATTCCTTCATTCACTAGTTCATTCATTCGAAGATTTCTTTCTTTCCATTCTTGACAGGGTCTCTCTATAGTGCCTAGGCGGGACAGAACTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGCTCTGTTGCCCATGCTGGAGTACAGTGGCTCGATCTCAGCTCACTGCAACCTCTGTCTCCCGAGCAGCTGGGATTACAGGCGCGCGCCACCACGCCGGGCTAATTTTTTTATTTTTAGCAGAGAACGGGGATTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGACTGGCCCACCTCAGCCTTCCAAAGTGCTAGGATTACAGGCATGAGCCACAGCGCCCGGCCAGAACATTTCTTGATTACCATGATAGACTTTGGAGATACAGAGATGTCAAGAGACTCGACCCCTTTCAGGTGGAGGGGGAAAGCAGGAGTCAGTGAAGCAGTTGCATTGACAACTAACCATGAAGGCTTGAGATTATTGTTAGAACAGAGGTAGTCATATTTTTACAAGGACAACAACCAATATAACTTGGAGCCAGAGGAAGAAGGGCTCCAGGAGTCTGGGTTTCAAAAAAAAAGAAAAGAAAAGAAAGACCAGAAGAATTACCTGAAGTGGTGAAGGCATTGAAAGAAAGAGTATAATTCTTTAGAACAGTTTTGGGGATGAATTTATTATGTATAGAGAGAAAGAGAGAGAGAGAACAAAGTAAGAGAAAAGGTTAGGCAATTATCAACTTCAGAGGAAACAAAGAGTTATATAAGAAAGGAAAGACAATTGATAAGCCTGTCTTATAAAGACCACATCTGTAGTTTGACAGTTAGGTTTATTAACTTGCCACAACAGAGAGATCACACACTAGAAGAACTGTGGGGCAACTCATTAAAAAGGAAGAAATATGGTCATTCAGATGATATGGTTTGGCTGTGTCCCCACCCAAATTTCAAGTTGATGTGTATCTCCCAGAATTCCCACGTGCGAGGGACCTAAGGGGAGGTAATTGAATCACGGGGGCCAGACTTTCCCGTGCTATTTTCATGATAGTGAATAAGTCTCACAAGATCTGATGAGTTCATCAGGGGTTTCTGCTTTTGCTTCTTCCTCATTTTTCTCTTGCCACCGCCATGTAAGAAGTGCCTTTGTCTCCCGCCATGATTCTGAGGCCTCCCCAGCAATGTGGAACTGTAAGTCCAATTAAACCTCTTTTTGTTTGCAGTTTCGGGTATGTCTTTATCAGTAATGTGAAAATGAACTAATACAACAGGATATGGGAAAGGCTTGACTTTAAAATTTATATTTTAAAATTTATTTACTTATTTATTTAGAGTTGAAGTCTCGGTATGTTGCCCAGGCGAAGCTCAAACTTCTGGGCTCAAGTGATCCTCCTGC
Task1_train_1591
With a mutation on Chromosome 1 in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; not specified
AGGTACATACTTTTTGGATAGACACCAAGAACTACGTAGAAGTGACCCGGAAGTGGTATGCAGAGGCTATGCCCTTTCCCCTCAACTTCTTCCTGCCTGGCCGCATGCAGCGGCAGTACATGGAACGGCTACAGCTGCTGACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTC
AGGTACATACTTTTTGGATAGACACCAAGAACTACGTAGAAGTGACCCGGAAGTGGTATGCAGAGGCTATGCCCTTTCCCCTCAACTTCTTCCTGCCTGGCCGCATGCAGCGGCAGTACATGGAACGGCTACAGCTGCTGACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCTCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTC
Task1_train_1592
Here’s a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Gaucher disease
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
Task1_train_1593
A change on Chromosome 1 affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Gaucher disease type I
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
Task1_train_1594
This mutation occurs in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Parkinson disease, late-onset
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
Task1_train_1595
Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
Task1_train_1596
The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Gaucher disease type I
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
Task1_train_1597
An alteration has been detected in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Gaucher disease type II
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
Task1_train_1598
A variant affecting Chromosome 1, within the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Gaucher disease type III
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
Task1_train_1599
Here’s a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT