Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_3800
The gene GGCX (gamma-glutamyl carboxylase) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
GCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTCTTATCCCCATTTATGCCTACTTCATAGTGACTGCCCTGGGTTCAATTTAGCTCCTGCTCACACCACCCTCTCCCACTCCCAAACAATGCCTCTGGCTAGTCCCTTCCTGCAAAACTGTGGTTCCTGTTTCCTCCCAGGCTACAGGTACTGACCAATGCTGAAAAGCTGGGAATTCATGCAGTGGAAGTAGGACACAAAGAACAGGCCAATGGATCTTGAGACATCAAAAAAGAGCAGGAAACCAGCTGAGAGGTCAAGCAGCAGCCCACCCCAGTGCACGACCAGCAGGCTAGTCAGCTCCTCAGACAACAGCAGTCTGCAAACACATGGAGAAAGTTCAAGCACCAGCCCACTGGAGAACACATCAAAGCACATTCACAGCACGAATGTGCCTTGGCTACTCCAGTGGCTGGGTAGATGCCTAAGGTACATAATCCACCCATGAAGACACTCCTCTAGGTTGTTTGTTGTTGTTGTTGTTGTTG
GCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGTGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTCTTATCCCCATTTATGCCTACTTCATAGTGACTGCCCTGGGTTCAATTTAGCTCCTGCTCACACCACCCTCTCCCACTCCCAAACAATGCCTCTGGCTAGTCCCTTCCTGCAAAACTGTGGTTCCTGTTTCCTCCCAGGCTACAGGTACTGACCAATGCTGAAAAGCTGGGAATTCATGCAGTGGAAGTAGGACACAAAGAACAGGCCAATGGATCTTGAGACATCAAAAAAGAGCAGGAAACCAGCTGAGAGGTCAAGCAGCAGCCCACCCCAGTGCACGACCAGCAGGCTAGTCAGCTCCTCAGACAACAGCAGTCTGCAAACACATGGAGAAAGTTCAAGCACCAGCCCACTGGAGAACACATCAAAGCACATTCACAGCACGAATGTGCCTTGGCTACTCCAGTGGCTGGGTAGATGCCTAAGGTACATAATCCACCCATGAAGACACTCCTCTAGGTTGTTTGTTGTTGTTGTTGTTGTTG
Task1_train_3801
This alteration occurs within gene GGCX (gamma-glutamyl carboxylase) located on Chromosome 2. Is it associated with a disease or is it a benign variant?
Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
CCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTCTTATCCCCATTTATGCCTACTTCATAGTGACTGCCCTGGGTTCAATTTAGCTCCTGCTCACACCACCCTCTCCCACTCCCAAACAATGCCTCTGGCTAGTCCCTTCCTGCAAAACTGTGGTTCCTGTTTCCTCCCAGGCTACAGGTACTGACCAATGCTGAAAAGCTGGGAATTCATGCAGTGGAAGTAGGACACAAAGAACAGGCCAATGGATCTTGAGACATCAAAAAAGAGCAGGAAACCAGCTGAGAGGTCAAGCAGCAGCCCACCCCAGTGCACGACCAGCAGGCTAGTCAGCTCCTCAGACAACAGCAGTCTGCAAACACATGGAGAAAGTTCAAGCACCAGCCCACTGGAGAACACATCAAAGCACATTCACAGCACGAATGTGCCTTGGCTACTCCAGTGGCTGGGTAGATGCCTAAGGTACATAATCCACCCATGAAGACACTCCTCTAGGTTGTTTGTTGTTGTTGTTGTTGTTGT
CCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCAGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTCTTATCCCCATTTATGCCTACTTCATAGTGACTGCCCTGGGTTCAATTTAGCTCCTGCTCACACCACCCTCTCCCACTCCCAAACAATGCCTCTGGCTAGTCCCTTCCTGCAAAACTGTGGTTCCTGTTTCCTCCCAGGCTACAGGTACTGACCAATGCTGAAAAGCTGGGAATTCATGCAGTGGAAGTAGGACACAAAGAACAGGCCAATGGATCTTGAGACATCAAAAAAGAGCAGGAAACCAGCTGAGAGGTCAAGCAGCAGCCCACCCCAGTGCACGACCAGCAGGCTAGTCAGCTCCTCAGACAACAGCAGTCTGCAAACACATGGAGAAAGTTCAAGCACCAGCCCACTGGAGAACACATCAAAGCACATTCACAGCACGAATGTGCCTTGGCTACTCCAGTGGCTGGGTAGATGCCTAAGGTACATAATCCACCCATGAAGACACTCCTCTAGGTTGTTTGTTGTTGTTGTTGTTGTTGT
Task1_train_3802
This variant lies on Chromosome 2 and affects the gene GGCX (gamma-glutamyl carboxylase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Vitamin K-dependent clotting factors, combined deficiency of, type 1
TGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTCTTATCCCCATTTATGCCTACTTCATAGTGACTGCCCTGGGTTCAATTTAGCTCCTGCTCACACCACCCTCTCCCACTCCCAAACAATGCCTCTGGCTAGTCCCTTCCTGCAAAACTGTGGTTCCTGTTTCCTCCCAGGCTACAGGTACTGACCAATGCTGAAAAGCTGGGAATTCATGCAGTGGAAGTAGGACACAAAGAACAGGCCAATGGATCTTGAGACATCAAAAAAGAGCAGGAAACCAGCTGAGAGGTCAAGCAGCAGCCCACCCCAGTGCACGACCAGCAGGCTAGTCAGCTCCTCAGACAACAGCAGTCTGCAAACACATGGAGAAAGTTCAAGCACCAGCCCACTGGAGAACACATCAAAGCACATTCACAGCACGAATGTGCCTTGGCTACTCCAGTGGCTGGGTAGATGCCTAAGGTACATAATCCACCCATGAAGACACTCCTCTAGGTTGTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGAAACGAAGTTTCACTCTGTCGCCTAGGCTGGAAGGCAATGGCATGATCATGGTGCACTGTAGCCTCAAACTCCTGGGCTCAAGCAATCCTCCTGTCTCAGCCTCCGAAGTAGCTGGAACCACAGGCACGTGCCACCACGCCTAGCTGTTTTTTTAAAAAATTTTTTTGTAGAGACAGTGTCTTATATTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCCACCCCAGCATCCCAAAGTGCCGGGATTACAGGCATGAGCCACCATGCCCAGCCCCCTCTACATTTTCACACACTTTAGGTGTTCAATGTTTTCTAACATATCCTATGTAATAAGCAAGGGCAGATCTCCTAGGACAAAATTTGACTGAGATGTGTGTGTGTTGTGGAAGGGACGTTCCCCACGGAGGTCATGAGTGAGAGGACACTTTAAAAGGTGAATGCTTGGCTAACATCATAATGAAGTCAAACTTCAGGAACTGGAAAATAACAGGGAAGAAGAAAGAGAATAAAGTAAAACAAGAGGAAAGAAGAAATGGGAAGAAGACAAATCAGAAAGGTGACCCTTTGTTTTGTGGAAGTGATAATAATGGTTTTGTCA
TGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACCGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTCTTATCCCCATTTATGCCTACTTCATAGTGACTGCCCTGGGTTCAATTTAGCTCCTGCTCACACCACCCTCTCCCACTCCCAAACAATGCCTCTGGCTAGTCCCTTCCTGCAAAACTGTGGTTCCTGTTTCCTCCCAGGCTACAGGTACTGACCAATGCTGAAAAGCTGGGAATTCATGCAGTGGAAGTAGGACACAAAGAACAGGCCAATGGATCTTGAGACATCAAAAAAGAGCAGGAAACCAGCTGAGAGGTCAAGCAGCAGCCCACCCCAGTGCACGACCAGCAGGCTAGTCAGCTCCTCAGACAACAGCAGTCTGCAAACACATGGAGAAAGTTCAAGCACCAGCCCACTGGAGAACACATCAAAGCACATTCACAGCACGAATGTGCCTTGGCTACTCCAGTGGCTGGGTAGATGCCTAAGGTACATAATCCACCCATGAAGACACTCCTCTAGGTTGTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGAAACGAAGTTTCACTCTGTCGCCTAGGCTGGAAGGCAATGGCATGATCATGGTGCACTGTAGCCTCAAACTCCTGGGCTCAAGCAATCCTCCTGTCTCAGCCTCCGAAGTAGCTGGAACCACAGGCACGTGCCACCACGCCTAGCTGTTTTTTTAAAAAATTTTTTTGTAGAGACAGTGTCTTATATTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCCACCCCAGCATCCCAAAGTGCCGGGATTACAGGCATGAGCCACCATGCCCAGCCCCCTCTACATTTTCACACACTTTAGGTGTTCAATGTTTTCTAACATATCCTATGTAATAAGCAAGGGCAGATCTCCTAGGACAAAATTTGACTGAGATGTGTGTGTGTTGTGGAAGGGACGTTCCCCACGGAGGTCATGAGTGAGAGGACACTTTAAAAGGTGAATGCTTGGCTAACATCATAATGAAGTCAAACTTCAGGAACTGGAAAATAACAGGGAAGAAGAAAGAGAATAAAGTAAAACAAGAGGAAAGAAGAAATGGGAAGAAGACAAATCAGAAAGGTGACCCTTTGTTTTGTGGAAGTGATAATAATGGTTTTGTCA
Task1_train_3803
Gene GGCX (gamma-glutamyl carboxylase) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
TCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTCTTATCCCCATTTATGCCTACTTCATAGTGACTGCCCTGGGTTCAATTTAGCTCCTGCTCACACCACCCTCTCCCACTCCCAAACAATGCCTCTGGCTAGTCCCTTCCTGCAAAACTGTGGTTCCTGTTTCCTCCCAGGCTACAGGTACTGACCAATGCTGAAAAGCTGGGAATTCATGCAGTGGAAGTAGGACACAAAGAACAGGCCAATGGATCTTGAGACATCAAAAAAGAGCAGGAAACCAGCTGAGAGGTCAAGCAGCAGCCCACCCCAGTGCACGACCAGCAGGCTAGTCAGCTCCTCAGACAACAGCAGTCTGCAAACACATGGAGAAAGTTCAAGCACCAGCCCACTGGAGAACACATCAAAGCACATTCACAGCACGAATGTGCCTTGGCTACTCCAGTGGCTGGGTAGATGCCTAAGGTACATAATCCACCCATGAAGACACTCCTCTAGGTTGTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGAAACGAAGTTTCACTCTGTCGCCTAGGCTGGAAGGCAATGGCATGATCATGGTGCACTGTAGCCTCAAACTCCTGGGCTCAAGCAATCCTCCTGTCTCAGCCTCCGAAGTAGCTGGAACCACAGGCACGTGCCACCACGCCTAGCTGTTTTTTTAAAAAATTTTTTTGTAGAGACAGTGTCTTATATTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCCACCCCAGCATCCCAAAGTGCCGGGATTACAGGCATGAGCCACCATGCCCAGCCCCCTCTACATTTTCACACACTTTAGGTGTTCAATGTTTTCTAACATATCCTATGTAATAAGCAAGGGCAGATCTCCTAGGACAAAATTTGACTGAGATGTGTGTGTGTTGTGGAAGGGACGTTCCCCACGGAGGTCATGAGTGAGAGGACACTTTAAAAGGTGAATGCTTGGCTAACATCATAATGAAGTCAAACTTCAGGAACTGGAAAATAACAGGGAAGAAGAAAGAGAATAAAGTAAAACAAGAGGAAAGAAGAAATGGGAAGAAGACAAATCAGAAAGGTGACCCTTTGTTTTGTGGAAGTGATAATAATGGTTTTGTCAGAGCCTGAACAGTGAGTGCCCATCTTCTCAGTACATCAGCTGCAGGGCTCTGATGGGAGGCTAGAGTGGCAAGGCAAGGACACAGGCACCATCCAAGGCAGCTGCTGAGGGCACTGGCTCACTCACCAAGTCAGCCAGTTCCGGCTCTTTCCTTTCCTTTTTAAATTTCTTTTCCTTTCTTGCCTATCTATACCATATATCTCCCAAGAGCAGCTAGGGCTCAATCTTTTGATACCACTGACTCTGCTTCTGCTGAATAGGGAAATGAGTGGACAAAGGAAGGCATGTGGCAAATTCAGGCAAAGTAGGAACAGGTGCCATTACTGAGAGAGATGAGTCACCTGCTCTGTACCCATGCCTCAAAGAGGCCTCCACCATGACTGCCACTCACTTGAAGGGACTGAAGAGCCAGTGCCGGGACAAATATTCCATGGAATAGCCTTCAA
TCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGGACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTCTTATCCCCATTTATGCCTACTTCATAGTGACTGCCCTGGGTTCAATTTAGCTCCTGCTCACACCACCCTCTCCCACTCCCAAACAATGCCTCTGGCTAGTCCCTTCCTGCAAAACTGTGGTTCCTGTTTCCTCCCAGGCTACAGGTACTGACCAATGCTGAAAAGCTGGGAATTCATGCAGTGGAAGTAGGACACAAAGAACAGGCCAATGGATCTTGAGACATCAAAAAAGAGCAGGAAACCAGCTGAGAGGTCAAGCAGCAGCCCACCCCAGTGCACGACCAGCAGGCTAGTCAGCTCCTCAGACAACAGCAGTCTGCAAACACATGGAGAAAGTTCAAGCACCAGCCCACTGGAGAACACATCAAAGCACATTCACAGCACGAATGTGCCTTGGCTACTCCAGTGGCTGGGTAGATGCCTAAGGTACATAATCCACCCATGAAGACACTCCTCTAGGTTGTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGAAACGAAGTTTCACTCTGTCGCCTAGGCTGGAAGGCAATGGCATGATCATGGTGCACTGTAGCCTCAAACTCCTGGGCTCAAGCAATCCTCCTGTCTCAGCCTCCGAAGTAGCTGGAACCACAGGCACGTGCCACCACGCCTAGCTGTTTTTTTAAAAAATTTTTTTGTAGAGACAGTGTCTTATATTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCCACCCCAGCATCCCAAAGTGCCGGGATTACAGGCATGAGCCACCATGCCCAGCCCCCTCTACATTTTCACACACTTTAGGTGTTCAATGTTTTCTAACATATCCTATGTAATAAGCAAGGGCAGATCTCCTAGGACAAAATTTGACTGAGATGTGTGTGTGTTGTGGAAGGGACGTTCCCCACGGAGGTCATGAGTGAGAGGACACTTTAAAAGGTGAATGCTTGGCTAACATCATAATGAAGTCAAACTTCAGGAACTGGAAAATAACAGGGAAGAAGAAAGAGAATAAAGTAAAACAAGAGGAAAGAAGAAATGGGAAGAAGACAAATCAGAAAGGTGACCCTTTGTTTTGTGGAAGTGATAATAATGGTTTTGTCAGAGCCTGAACAGTGAGTGCCCATCTTCTCAGTACATCAGCTGCAGGGCTCTGATGGGAGGCTAGAGTGGCAAGGCAAGGACACAGGCACCATCCAAGGCAGCTGCTGAGGGCACTGGCTCACTCACCAAGTCAGCCAGTTCCGGCTCTTTCCTTTCCTTTTTAAATTTCTTTTCCTTTCTTGCCTATCTATACCATATATCTCCCAAGAGCAGCTAGGGCTCAATCTTTTGATACCACTGACTCTGCTTCTGCTGAATAGGGAAATGAGTGGACAAAGGAAGGCATGTGGCAAATTCAGGCAAAGTAGGAACAGGTGCCATTACTGAGAGAGATGAGTCACCTGCTCTGTACCCATGCCTCAAAGAGGCCTCCACCATGACTGCCACTCACTTGAAGGGACTGAAGAGCCAGTGCCGGGACAAATATTCCATGGAATAGCCTTCAA
Task1_train_3804
This variant affects gene GGCX (gamma-glutamyl carboxylase) located on Chromosome 2. Evaluate its biological effect and specify any disease association.
Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
AACAGCAAAAAGTTCAGTATTTCTTGTTAGCTCCCAGTTGAGTTTGTTCTAATGGATCAAATCAGGAAAAAAGGACTACAATACTAGAAAATTACTGAAAAAGGGGAGGAATTTGATGGAGTGTTTGAAAAGCTATGTATGTGTAAATAAATATGCGGTGTATTATCTTTAAAAAAAAATGAAAACCCTCAACAGCAGAGTAACACACAACATAAACTAACATTTCATAGACCTGGGTGCCAGGATCCAGTATAAGAGGGTTCCTGCTAACAGCTTGTATTCTGGAAGAGAACTGATTAGACCCAGGCTACTAACACCAGATGTACTCTGGGGAAGCAGAAGCAAAGCAAGTTTTCAAGAAGTAGAAGCTGGGAAAGGGGCAGCTTACACTGTGGTCAAGAGCACTGGACTCTGCAGTCATGAACACCTGGACTCACTTCTGTTTCTTAACTGCTAGCTGACCTTAGGCAAATTCTTCACTCGTCAATAATACTTAGCTTCTTTATCTTTAAAATGTGAACAGGCCAGGCTCAGTAGTTCATACCTATAATACCAACATTTTGGGAAGCTAAAGCGAGAGAATCTCTGGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGACTGCACCACTGCATTCTGGCCTCAGTGACAGAGCAAGACCCTGACTCCAAAAAACATAAAATGTGAACAGCACCATCGACCTTACAGGGTTTTAATGAGGAAAAACTCTAAATATTTAGTATAGTGCCTGCGATGTGGAAAACCCTGAATAAATGATAAGTGATTTTTTCAAAATGCATAAAGTCATAAAAATGGAACTTCTGACTAGCCTGAGCAACATAGTGAGATCCCATCTCTACAAAAAATTTTAAAAATTAGCTGAGTGTGGTGGCACACACCTGTTGTTCCAGCTACTCAGGAGGCTGAGATGGAAGGATCACCTAAACACAAGAAGGTTGAGGCTGCAGTGAGCTATGATCACGCCACTGCACTCTAGCCTGGGCGACACAGTGAGATGCCATCTCAACAAATATCCCCACAACGGAACTTTTCAGAGATATTCTATCAAAACTGCCTCTTAATTCTCTATGATCAGAGCTGGCCATTCTGAATGAGTTTCAAGTTTTACCAAAGGGGTTTTGTATGTGTGTATTAACAAATAGGCCGGACACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGACTGCTTGAGCCCAGAAGTTCAAGACCAGCCTGGGCAACAAAGCGAGACCCCATCTCTATTTAAAAATAAATAAATAAAAAGAAAAATAAATAAAACTTAATGACTGTTAATGAATTCAATGTTTGAGTTTTTTTCCCCATACTCATGTTATTGACACCTATTTTATTACTTTTCACTCAACATATAAAGAATCCTTAAGGTCAACTGCCCCACCACCTTATCTCCAAATCCCTTCTCCACCTCCCCTTAGAGACAGTCACCTAAGCCAGAAATGGGGAAGGGTTACCTCCTCCGAGAACAGCAATGCTGAGCAGCCCTGGTGGGCCCTCTTCTCCTGACATGATCTCTGCCTCACAGCAACTTCTACTTTTGGCTCTAACTCTGCCCTTCTGGACTCACACAGAGAAAGTCTGCTCCCTCTTCTACATAACCACCCTTAAAGTATCTGAAAACAGCCATGTCTGGCTTTAGTATTCTGTTTTTCTCTCTAAGAGGGTTACAAGAGGTGAATAAATCAAGGCACCTGGGGAGATAGGGAAAGACTGAAGGGGTGGGATGGAGCCATTTTGCTTTGTGTCATCCCAAGCGCTCCAACTAGTTGGCCCTTTCCCCTCCCAAATCCACCTAGATCAAAGTGACCTTGTAACCATACTTTGCAAACATGACTGAAAAATTCCAGAACCTCACTGGGCCCCTATCTCTGATAACCATCCTGACCCAGCCAACCCCTCCCCTTTGTCCCCCCTGACTCATACCAGTAGTGGTTTGCATCCATGAATGTTAGCTGAAAGGCCAACAACCCATACAGATAGGAGTGGTTGTTCCATGATGTCTTGTCCAGGAGAAACACATACCAGTATGGCAGCAGGAATAACACACAGCTTATCCGGTAGCACAGGCCCAGCATCATGCCCAGTGCCCCTGGGATTTGTAGGGAGAGGATTAAGAGGTCAAGAGATCACCACAGGCCCAGTTTCCCTGGACCAGGATATGGTTGGAATTAAGAAAAATCAAGCATTGTATAATCACATAAAACTAAATGAAAATTAAATGTTATTTTAATATTTTAAAAAGAATTATGGGATCACAGCTTAAGTGACACACAGGTCAACAGCATGAAATTGATCACAGCAGAAGTGAAATAAGGTGCCAAAGACTTTGACCATTCACCAGCATGCTTCTATTTCTGTGTTTCTGGCAGGCCAGTCAATATTTCCCACAGTTCCCCTCACCCAGAAACATGATGGTGTAGACAAGATACATCCAGTCAAGTGGCAGTGGGCGTAGGGCATCCAGCAAGGGGAAGCGGCACACATCCAGCCCATCAAGGTATTTCCGGTCCAGAGAGCTGAGCCCCCGCTCCTGGGGAATGTCTAGCACCATCAAGAACCCTAAGAAGGCAATAGGGGAGTTGGTCATTGGGCCTCAGCTAAGGAAGCAGTAGAATACAGTGGAACACAGTTGACAGTGTGCAGCTCCAGGGTCAGACTTCTTTTCTAATCTTGGCTCTGCCATTTATTCAGTATTAATTATTGAGTGCCTACTCTGCACAGTACTACATCTGTTGTGCCATCTAGAACAGCCCCTGCAGCTCGGTTAACCAATTCCCCATTTGTGAGAAGGGGAATACATCACAGGACTACAGAGAGGATTAAATTACAGAAATGCACAAAATGCTATAAAAACTGTTAGGGTCTTGACAGCTATAAAGATCCATCCTATTGAGCTTCAGAAAGTGCTCTGGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAGTTCGAAACCAGCCTGACCAACATGGAAAAACCCCGTCTCTACTTAAAATACAAAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAAGCTGAAGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGATCGAAACTCCGTCTCAAAAAAAGAAAGAAAGAAAGAAAGAAAGTGCTCTGGGAGTGCTTCTCAACCTTTTCTGCTTCCTGGCACACTCCAAAAACAGTTGCATTTCGTCAACACCCTGGGAATAAACAGAAGAGGCTACTCAGATCAGGAAGCCAGCTTGAGATAAAGCAGGGTTTCTCAACTTCAGGACTAGTCACATTTTGGGCTGGTTAATTATTTATTGAGGGGATTATCCAATGCACTACAGGACATTTAGGAGCACTCCCTGACCTCTATAGAGATGCCAGCAGCCACCTATTCTTCCTCCCCCAAGTTGTGACAACTAAAAATGTCTCTAAACATTGCCAAATGTCTCCCAGGGAGCAAAACTCCCTCCAGTTGAGAACTACTGGGCTAAGGGGACTAATATCTCTGCACATCTGTAAACCATTCCAAGCACACCATGCTGCGGCCTCAGTTAAGAAGCTCTTGATTAGGGAGTCACAGCCAAAAGGTATGGTCCCTGTGGCCCCCTGCTCTGTTTCTCTGAGTCTTCTGGGCAACTTCATGCCACAAGCAAAATGGGTCACTGCTGCCTCGCCTCTACATATCATATAGCATTTCTAGCTGGGTACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACACATACAAAAAAAATAAAAAATTAGCCGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGGAGGAGAATCGCTTTAACCCGGGTGGCGGAGGTTACAGTGAGCCGAGATA
AACAGCAAAAAGTTCAGTATTTCTTGTTAGCTCCCAGTTGAGTTTGTTCTAATGGATCAAATCAGGAAAAAAGGACTACAATACTAGAAAATTACTGAAAAAGGGGAGGAATTTGATGGAGTGTTTGAAAAGCTATGTATGTGTAAATAAATATGCGGTGTATTATCTTTAAAAAAAAATGAAAACCCTCAACAGCAGAGTAACACACAACATAAACTAACATTTCATAGACCTGGGTGCCAGGATCCAGTATAAGAGGGTTCCTGCTAACAGCTTGTATTCTGGAAGAGAACTGATTAGACCCAGGCTACTAACACCAGATGTACTCTGGGGAAGCAGAAGCAAAGCAAGTTTTCAAGAAGTAGAAGCTGGGAAAGGGGCAGCTTACACTGTGGTCAAGAGCACTGGACTCTGCAGTCATGAACACCTGGACTCACTTCTGTTTCTTAACTGCTAGCTGACCTTAGGCAAATTCTTCACTCGTCAATAATACTTAGCTTCTTTATCTTTAAAATGTGAACAGGCCAGGCTCAGTAGTTCATACCTATAATACCAACATTTTGGGAAGCTAAAGCGAGAGAATCTCTGGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGACTGCACCACTGCATTCTGGCCTCAGTGACAGAGCAAGACCCTGACTCCAAAAAACATAAAATGTGAACAGCACCATCGACCTTACAGGGTTTTAATGAGGAAAAACTCTAAATATTTAGTATAGTGCCTGCGATGTGGAAAACCCTGAATAAATGATAAGTGATTTTTTCAAAATGCATAAAGTCATAAAAATGGAACTTCTGACTAGCCTGAGCAACATAGTGAGATCCCATCTCTACAAAAAATTTTAAAAATTAGCTGAGTGTGGTGGCACACACCTGTTGTTCCAGCTACTCAGGAGGCTGAGATGGAAGGATCACCTAAACACAAGAAGGTTGAGGCTGCAGTGAGCTATGATCACGCCACTGCACTCTAGCCTGGGCGACACAGTGAGATGCCATCTCAACAAATATCCCCACAACGGAACTTTTCAGAGATATTCTATCAAAACTGCCTCTTAATTCTCTATGATCAGAGCTGGCCATTCTGAATGAGTTTCAAGTTTTACCAAAGGGGTTTTGTATGTGTGTATTAACAAATAGGCCGGACACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGACTGCTTGAGCCCAGAAGTTCAAGACCAGCCTGGGCAACAAAGCGAGACCCCATCTCTATTTAAAAATAAATAAATAAAAAGAAAAATAAATAAAACTTAATGACTGTTAATGAATTCAATGTTTGAGTTTTTTTCCCCATACTCATGTTATTGACACCTATTTTATTACTTTTCACTCAACATATAAAGAATCCTTAAGGTCAACTGCCCCACCACCTTATCTCCAAATCCCTTCTCCACCTCCCCTTAGAGACAGTCACCTAAGCCAGAAATGGGGAAGGGTTACCTCCTCCGAGAACAGCAATGCTGAGCAGCCCTGGTGGGCCCTCTTCTCCTGACATGATCTCTGCCTCACAGCAACTTCTACTTTTGGCTCTAACTCTGCCCTTCTGGACTCACACAGAGAAAGTCTGCTCCCTCTTCTACATAACCACCCTTAAAGTATCTGAAAACAGCCATGTCTGGCTTTAGTATTCTGTTTTTCTCTCTAAGAGGGTTACAAGAGGTGAATAAATCAAGGCACCTGGGGAGATAGGGAAAGACTGAAGGGGTGGGATGGAGCCATTTTGCTTTGTGTCATCCCAAGCGCTCCAACTAGTTGGCCCTTTCCCCTCCCAAATCCACCTAGATCAAAGTGACCTTGTAACCATACTTTGCAAACATGACTGAAAAATTCCAGAACCTCACTGGGCCCCTATCTCTGATAACCATCCTGACCCAGCCAACCCCTCCCCTTTGTCCCCCCTGACTCATACCAGTAGTGGTTTGCATCCATGAATGTTAGCTGAAAGGCCAACAACCCATACAGATAGGAGTGGTTGTTCCGTGATGTCTTGTCCAGGAGAAACACATACCAGTATGGCAGCAGGAATAACACACAGCTTATCCGGTAGCACAGGCCCAGCATCATGCCCAGTGCCCCTGGGATTTGTAGGGAGAGGATTAAGAGGTCAAGAGATCACCACAGGCCCAGTTTCCCTGGACCAGGATATGGTTGGAATTAAGAAAAATCAAGCATTGTATAATCACATAAAACTAAATGAAAATTAAATGTTATTTTAATATTTTAAAAAGAATTATGGGATCACAGCTTAAGTGACACACAGGTCAACAGCATGAAATTGATCACAGCAGAAGTGAAATAAGGTGCCAAAGACTTTGACCATTCACCAGCATGCTTCTATTTCTGTGTTTCTGGCAGGCCAGTCAATATTTCCCACAGTTCCCCTCACCCAGAAACATGATGGTGTAGACAAGATACATCCAGTCAAGTGGCAGTGGGCGTAGGGCATCCAGCAAGGGGAAGCGGCACACATCCAGCCCATCAAGGTATTTCCGGTCCAGAGAGCTGAGCCCCCGCTCCTGGGGAATGTCTAGCACCATCAAGAACCCTAAGAAGGCAATAGGGGAGTTGGTCATTGGGCCTCAGCTAAGGAAGCAGTAGAATACAGTGGAACACAGTTGACAGTGTGCAGCTCCAGGGTCAGACTTCTTTTCTAATCTTGGCTCTGCCATTTATTCAGTATTAATTATTGAGTGCCTACTCTGCACAGTACTACATCTGTTGTGCCATCTAGAACAGCCCCTGCAGCTCGGTTAACCAATTCCCCATTTGTGAGAAGGGGAATACATCACAGGACTACAGAGAGGATTAAATTACAGAAATGCACAAAATGCTATAAAAACTGTTAGGGTCTTGACAGCTATAAAGATCCATCCTATTGAGCTTCAGAAAGTGCTCTGGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAGTTCGAAACCAGCCTGACCAACATGGAAAAACCCCGTCTCTACTTAAAATACAAAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAAGCTGAAGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGATCGAAACTCCGTCTCAAAAAAAGAAAGAAAGAAAGAAAGAAAGTGCTCTGGGAGTGCTTCTCAACCTTTTCTGCTTCCTGGCACACTCCAAAAACAGTTGCATTTCGTCAACACCCTGGGAATAAACAGAAGAGGCTACTCAGATCAGGAAGCCAGCTTGAGATAAAGCAGGGTTTCTCAACTTCAGGACTAGTCACATTTTGGGCTGGTTAATTATTTATTGAGGGGATTATCCAATGCACTACAGGACATTTAGGAGCACTCCCTGACCTCTATAGAGATGCCAGCAGCCACCTATTCTTCCTCCCCCAAGTTGTGACAACTAAAAATGTCTCTAAACATTGCCAAATGTCTCCCAGGGAGCAAAACTCCCTCCAGTTGAGAACTACTGGGCTAAGGGGACTAATATCTCTGCACATCTGTAAACCATTCCAAGCACACCATGCTGCGGCCTCAGTTAAGAAGCTCTTGATTAGGGAGTCACAGCCAAAAGGTATGGTCCCTGTGGCCCCCTGCTCTGTTTCTCTGAGTCTTCTGGGCAACTTCATGCCACAAGCAAAATGGGTCACTGCTGCCTCGCCTCTACATATCATATAGCATTTCTAGCTGGGTACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACACATACAAAAAAAATAAAAAATTAGCCGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGGAGGAGAATCGCTTTAACCCGGGTGGCGGAGGTTACAGTGAGCCGAGATA
Task1_train_3805
The gene GGCX (gamma-glutamyl carboxylase), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
GTAGTTCATACCTATAATACCAACATTTTGGGAAGCTAAAGCGAGAGAATCTCTGGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGACTGCACCACTGCATTCTGGCCTCAGTGACAGAGCAAGACCCTGACTCCAAAAAACATAAAATGTGAACAGCACCATCGACCTTACAGGGTTTTAATGAGGAAAAACTCTAAATATTTAGTATAGTGCCTGCGATGTGGAAAACCCTGAATAAATGATAAGTGATTTTTTCAAAATGCATAAAGTCATAAAAATGGAACTTCTGACTAGCCTGAGCAACATAGTGAGATCCCATCTCTACAAAAAATTTTAAAAATTAGCTGAGTGTGGTGGCACACACCTGTTGTTCCAGCTACTCAGGAGGCTGAGATGGAAGGATCACCTAAACACAAGAAGGTTGAGGCTGCAGTGAGCTATGATCACGCCACTGCACTCTAGCCTGGGCGACACAGTGAGATGCCATCTCAACAAATATCCCCACAACGGAACTTTTCAGAGATATTCTATCAAAACTGCCTCTTAATTCTCTATGATCAGAGCTGGCCATTCTGAATGAGTTTCAAGTTTTACCAAAGGGGTTTTGTATGTGTGTATTAACAAATAGGCCGGACACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGACTGCTTGAGCCCAGAAGTTCAAGACCAGCCTGGGCAACAAAGCGAGACCCCATCTCTATTTAAAAATAAATAAATAAAAAGAAAAATAAATAAAACTTAATGACTGTTAATGAATTCAATGTTTGAGTTTTTTTCCCCATACTCATGTTATTGACACCTATTTTATTACTTTTCACTCAACATATAAAGAATCCTTAAGGTCAACTGCCCCACCACCTTATCTCCAAATCCCTTCTCCACCTCCCCTTAGAGACAGTCACCTAAGCCAGAAATGGGGAAGGGTTACCTCCTCCGAGAACAGCAATGCTGAGCAGCCCTGGTGGGCCCTCTTCTCCTGACATGATCTCTGCCTCACAGCAACTTCTACTTTTGGCTCTAACTCTGCCCTTCTGGACTCACACAGAGAAAGTCTGCTCCCTCTTCTACATAACCACCCTTAAAGTATCTGAAAACAGCCATGTCTGGCTTTAGTATTCTGTTTTTCTCTCTAAGAGGGTTACAAGAGGTGAATAAATCAAGGCACCTGGGGAGATAGGGAAAGACTGAAGGGGTGGGATGGAGCCATTTTGCTTTGTGTCATCCCAAGCGCTCCAACTAGTTGGCCCTTTCCCCTCCCAAATCCACCTAGATCAAAGTGACCTTGTAACCATACTTTGCAAACATGACTGAAAAATTCCAGAACCTCACTGGGCCCCTATCTCTGATAACCATCCTGACCCAGCCAACCCCTCCCCTTTGTCCCCCCTGACTCATACCAGTAGTGGTTTGCATCCATGAATGTTAGCTGAAAGGCCAACAACCCATACAGATAGGAGTGGTTGTTCCATGATGTCTTGTCCAGGAGAAACACATACCAGTATGGCAGCAGGAATAACACACAGCTTATCCGGTAGCACAGGCCCAGCATCATGCCCAGTGCCCCTGGGATTTGTAGGGAGAGGATTAAGAGGTCAAGAGATCACCACAGGCCCAGTTTCCCTGGACCAGGATATGGTTGGAATTAAGAAAAATCAAGCATTGTATAATCACATAAAACTAAATGAAAATTAAATGTTATTTTAATATTTTAAAAAGAATTATGGGATCACAGCTTAAGTGACACACAGGTCAACAGCATGAAATTGATCACAGCAGAAGTGAAATAAGGTGCCAAAGACTTTGACCATTCACCAGCATGCTTCTATTTCTGTGTTTCTGGCAGGCCAGTCAATATTTCCCACAGTTCCCCTCACCCAGAAACATGATGGTGTAGACAAGATACATCCAGTCAAGTGGCAGTGGGCGTAGGGCATCCAGCAAGGGGAAGCGGCACACATCCAGCCCATCAAGGTATTTCCGGTCCAGAGAGCTGAGCCCCCGCTCCTGGGGAATGTCTAGCACCATCAAGAACCCTAAGAAGGCAATAGGGGAGTTGGTCATTGGGCCTCAGCTAAGGAAGCAGTAGAATACAGTGGAACACAGTTGACAGTGTGCAGCTCCAGGGTCAGACTTCTTTTCTAATCTTGGCTCTGCCATTTATTCAGTATTAATTATTGAGTGCCTACTCTGCACAGTACTACATCTGTTGTGCCATCTAGAACAGCCCCTGCAGCTCGGTTAACCAATTCCCCATTTGTGAGAAGGGGAATACATCACAGGACTACAGAGAGGATTAAATTACAGAAATGCACAAAATGCTATAAAAACTGTTAGGGTCTTGACAGCTATAAAGATCCATCCTATTGAGCTTCAGAAAGTGCTCTGGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAGTTCGAAACCAGCCTGACCAACATGGAAAAACCCCGTCTCTACTTAAAATACAAAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAAGCTGAAGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGATCGAAACTCCGTCTCAAAAAAAGAAAGAAAGAAAGAAAGAAAGTGCTCTGGGAGTGCTTCTCAACCTTTTCTGCTTCCTGGCACACTCCAAAAACAGTTGCATTTCGTCAACACCCTGGGAATAAACAGAAGAGGCTACTCAGATCAGGAAGCCAGCTTGAGATAAAGCAGGGTTTCTCAACTTCAGGACTAGTCACATTTTGGGCTGGTTAATTATTTATTGAGGGGATTATCCAATGCACTACAGGACATTTAGGAGCACTCCCTGACCTCTATAGAGATGCCAGCAGCCACCTATTCTTCCTCCCCCAAGTTGTGACAACTAAAAATGTCTCTAAACATTGCCAAATGTCTCCCAGGGAGCAAAACTCCCTCCAGTTGAGAACTACTGGGCTAAGGGGACTAATATCTCTGCACATCTGTAAACCATTCCAAGCACACCATGCTGCGGCCTCAGTTAAGAAGCTCTTGATTAGGGAGTCACAGCCAAAAGGTATGGTCCCTGTGGCCCCCTGCTCTGTTTCTCTGAGTCTTCTGGGCAACTTCATGCCACAAGCAAAATGGGTCACTGCTGCCTCGCCTCTACATATCATATAGCATTTCTAGCTGGGTACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACACATACAAAAAAAATAAAAAATTAGCCGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGGAGGAGAATCGCTTTAACCCGGGTGGCGGAGGTTACAGTGAGCCGAGATAGCGCCATTGCACTCCAGCTTGGGCAACAAGAGCGAAAGTCCGTCTAAGGAAAAAAAAAAAAGCATTTCTGGCCACCAAGTAAATCCTAACTGTAGGAGACAAAGCAGGTTTAATCCTAAACTTCGCAAAGACCTCTTCTTTTATACCAATGTCTTCAGCTCTGAGGAAAAGGGAGCTAAGTCTACTTGCAACCAAAAAATAGAGATTGTCATTCTCCACTCTCAACCAAATTGCTCCCACCCATAAACTGGACTCACCAAAAAGAAAACGAAAGACAGCTAAGCTTGCAGGGTCCGTTGGTCGATTCAGCAGGGTCACCAGCCTCCGCCAACTGGACAAATCTGTCCACTCAAAACCCAAGAGTTTCCCTATTCGGCTGTCCTGCCTGGGCCCTGAGATCAGTTCAGCCTTGTCTTTCTGTACTTTATCTGCAATCAATAAATGGAGAAAATATGTGTGCGGGGGTGGGCTCCACCTCAAATCAAAGAAATCACTGCACCAACAGCTCAGAGCTTCCGCCCACCCGGGTCGGC
GTAGTTCATACCTATAATACCAACATTTTGGGAAGCTAAAGCGAGAGAATCTCTGGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGACTGCACCACTGCATTCTGGCCTCAGTGACAGAGCAAGACCCTGACTCCAAAAAACATAAAATGTGAACAGCACCATCGACCTTACAGGGTTTTAATGAGGAAAAACTCTAAATATTTAGTATAGTGCCTGCGATGTGGAAAACCCTGAATAAATGATAAGTGATTTTTTCAAAATGCATAAAGTCATAAAAATGGAACTTCTGACTAGCCTGAGCAACATAGTGAGATCCCATCTCTACAAAAAATTTTAAAAATTAGCTGAGTGTGGTGGCACACACCTGTTGTTCCAGCTACTCAGGAGGCTGAGATGGAAGGATCACCTAAACACAAGAAGGTTGAGGCTGCAGTGAGCTATGATCACGCCACTGCACTCTAGCCTGGGCGACACAGTGAGATGCCATCTCAACAAATATCCCCACAACGGAACTTTTCAGAGATATTCTATCAAAACTGCCTCTTAATTCTCTATGATCAGAGCTGGCCATTCTGAATGAGTTTCAAGTTTTACCAAAGGGGTTTTGTATGTGTGTATTAACAAATAGGCCGGACACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGACTGCTTGAGCCCAGAAGTTCAAGACCAGCCTGGGCAACAAAGCGAGACCCCATCTCTATTTAAAAATAAATAAATAAAAAGAAAAATAAATAAAACTTAATGACTGTTAATGAATTCAATGTTTGAGTTTTTTTCCCCATACTCATGTTATTGACACCTATTTTATTACTTTTCACTCAACATATAAAGAATCCTTAAGGTCAACTGCCCCACCACCTTATCTCCAAATCCCTTCTCCACCTCCCCTTAGAGACAGTCACCTAAGCCAGAAATGGGGAAGGGTTACCTCCTCCGAGAACAGCAATGCTGAGCAGCCCTGGTGGGCCCTCTTCTCCTGACATGATCTCTGCCTCACAGCAACTTCTACTTTTGGCTCTAACTCTGCCCTTCTGGACTCACACAGAGAAAGTCTGCTCCCTCTTCTACATAACCACCCTTAAAGTATCTGAAAACAGCCATGTCTGGCTTTAGTATTCTGTTTTTCTCTCTAAGAGGGTTACAAGAGGTGAATAAATCAAGGCACCTGGGGAGATAGGGAAAGACTGAAGGGGTGGGATGGAGCCATTTTGCTTTGTGTCATCCCAAGCGCTCCAACTAGTTGGCCCTTTCCCCTCCCAAATCCACCTAGATCAAAGTGACCTTGTAACCATACTTTGCAAACATGACTGAAAAATTCCAGAACCTCACTGGGCCCCTATCTCTGATAACCATCCTGACCCAGCCAACCCCTCCCCTTTGTCCCCCCTGACTCATACCAGTAGTGGTTTGCATCCATGAATGTTAGCTGAAAGGCCAACAACCCATACAGATAGGAGTGGTTGTTCCATGATGTCTTGTCCAGGAGAAACACATACCAGTATGGCAGCAGGAATAACACACAGCTTATCCGGTAGCACAGGCCCAGCATCATGCCCAGTGCCCCTGGGATTTGTAGGGAGAGGATTAAGAGGTCAAGAGATCACCACAGGCCCAGTTTCCCTGGACCAGGATATGGTTGGAATTAAGAAAAATCAAGCATTGTATAATCACATAAAACTAAATGAAAATTAAATGTTATTTTAATATTTTAAAAAGAATTATGGGATCACAGCTTAAGTGACACACAGGTCAACAGCATGAAATTGATCACAGCAGAAGTGAAATAAGGTGCCAAAGACTTTGACCATTCACCAGCATGCTTCTATTTCTGTGTTTCTGGCAGGCCAGTCAATATTTCCCACAGTTCCCCTCACCCAGAAACATGATGGTGTAGACAAGATACATCCAGTCAAGTGGCAGTGGGCGTAGGGCATCCAGCAAGGGGAAGCGGCACACATCCAGCCCATCAAGGTATTTCCGGTCCAGAGAGCTGAGCCCCCACTCCTGGGGAATGTCTAGCACCATCAAGAACCCTAAGAAGGCAATAGGGGAGTTGGTCATTGGGCCTCAGCTAAGGAAGCAGTAGAATACAGTGGAACACAGTTGACAGTGTGCAGCTCCAGGGTCAGACTTCTTTTCTAATCTTGGCTCTGCCATTTATTCAGTATTAATTATTGAGTGCCTACTCTGCACAGTACTACATCTGTTGTGCCATCTAGAACAGCCCCTGCAGCTCGGTTAACCAATTCCCCATTTGTGAGAAGGGGAATACATCACAGGACTACAGAGAGGATTAAATTACAGAAATGCACAAAATGCTATAAAAACTGTTAGGGTCTTGACAGCTATAAAGATCCATCCTATTGAGCTTCAGAAAGTGCTCTGGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAGTTCGAAACCAGCCTGACCAACATGGAAAAACCCCGTCTCTACTTAAAATACAAAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAAGCTGAAGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGATCGAAACTCCGTCTCAAAAAAAGAAAGAAAGAAAGAAAGAAAGTGCTCTGGGAGTGCTTCTCAACCTTTTCTGCTTCCTGGCACACTCCAAAAACAGTTGCATTTCGTCAACACCCTGGGAATAAACAGAAGAGGCTACTCAGATCAGGAAGCCAGCTTGAGATAAAGCAGGGTTTCTCAACTTCAGGACTAGTCACATTTTGGGCTGGTTAATTATTTATTGAGGGGATTATCCAATGCACTACAGGACATTTAGGAGCACTCCCTGACCTCTATAGAGATGCCAGCAGCCACCTATTCTTCCTCCCCCAAGTTGTGACAACTAAAAATGTCTCTAAACATTGCCAAATGTCTCCCAGGGAGCAAAACTCCCTCCAGTTGAGAACTACTGGGCTAAGGGGACTAATATCTCTGCACATCTGTAAACCATTCCAAGCACACCATGCTGCGGCCTCAGTTAAGAAGCTCTTGATTAGGGAGTCACAGCCAAAAGGTATGGTCCCTGTGGCCCCCTGCTCTGTTTCTCTGAGTCTTCTGGGCAACTTCATGCCACAAGCAAAATGGGTCACTGCTGCCTCGCCTCTACATATCATATAGCATTTCTAGCTGGGTACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACACATACAAAAAAAATAAAAAATTAGCCGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGGAGGAGAATCGCTTTAACCCGGGTGGCGGAGGTTACAGTGAGCCGAGATAGCGCCATTGCACTCCAGCTTGGGCAACAAGAGCGAAAGTCCGTCTAAGGAAAAAAAAAAAAGCATTTCTGGCCACCAAGTAAATCCTAACTGTAGGAGACAAAGCAGGTTTAATCCTAAACTTCGCAAAGACCTCTTCTTTTATACCAATGTCTTCAGCTCTGAGGAAAAGGGAGCTAAGTCTACTTGCAACCAAAAAATAGAGATTGTCATTCTCCACTCTCAACCAAATTGCTCCCACCCATAAACTGGACTCACCAAAAAGAAAACGAAAGACAGCTAAGCTTGCAGGGTCCGTTGGTCGATTCAGCAGGGTCACCAGCCTCCGCCAACTGGACAAATCTGTCCACTCAAAACCCAAGAGTTTCCCTATTCGGCTGTCCTGCCTGGGCCCTGAGATCAGTTCAGCCTTGTCTTTCTGTACTTTATCTGCAATCAATAAATGGAGAAAATATGTGTGCGGGGGTGGGCTCCACCTCAAATCAAAGAAATCACTGCACCAACAGCTCAGAGCTTCCGCCCACCCGGGTCGGC
Task1_train_3806
This alteration in SFTPB (surfactant protein B) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Hereditary pulmonary alveolar proteinosis
AGATGTTCACTCCAGAACACCCACTTTGTACCCCCACCCCACCAGCACACACTGGCCAGGGAACACAGCCCCATCCTATAATGGACATCCAGCCGCACTCCTCAGGCCATCCCTCCCTTCCCATCCCCCTTTTCCATGCTCTCATGATTTTTTACACTGAAACAGAGAGGGGTGCCTCCCAGTCCCTGGCCCGTGCACCTGGGACCACCTTGGACCCAGGGGAGTGAGGCCTCTGAGGATCACGGGCCCAAAGGGTGGGGGCTCTGGGAGCCAAGGGAAGTCCTAGGACCAACTGGGAGGGGTGGGTGTACCTGGCAGGTGGTGTGGGCATCCCAGCCCCTGGGCACCAGGGTCAGCAGCTGGGGCGTGTGCTGCTCCACAAATTGCTTGCACTGAGGAAGGAGACACACAGCTGTGGAGGGTCCCTTTGCAGGACTCTCCTGTCGTGTGGTCCTGGCCTCTCCACATCTCTGGATCACTCTAGGGCTCCCTCCCGACTCCTCCATCAGCCCTCACGGAACACCTCTGGCTGCAGTTGAAACCCTTAACAAACTGGAGCCAGCTGAAATGGAGGACTTCCATCAGAAAAGCAGGCGACACTGGAGACGGAGGACTCAGGCAGAGGGGTGGAATCTCAGCCACCACCCTCCCCTCCCTCCACCTCCATTTCAGTTCTAGAAGGAAACTTAACGTTCATCTGGTCCTTGAGACCAGATGTGATGGGCAGTCGGGAGGCTTGGGAGTTGCTGAGCAGGGAGCACAGTGTGGACAGCTGCCTCCTGGGAAGAGCATCAGCTGGCTTTCCTCAGGACAGGATCTCGCTTTAAGAAGGGAATTTCCTGTCCGGGTGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTCAGGTCAGGGGTTCGAGACCAGCCTGACCAATATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCGGGCCTGGTAGCACATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCCTGAACCCGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGGAATTTCCTGTCATTGACTGAGTATTGGCAAGGGCCCTAGGACCTTCAAGTCCAGCCCTCTCCTTTTGCCAATGGGTTTGTCCTGAGTGAGTCACACCTTGAGGAGTGTGGGGGCAGTAAAGGGATCAGGACCCTGGAGAGAAGGCTAGTCCCTTTCCTGGCTTGAACTGGCCCTAGCATTACTCATCTCCTGGTAGATAACCAGGCCTCTGAAGGCTTGCCTGGTGCTCACTCAGCCCGTGAAGAGGGCCTGCTGGTCCTCTGGAGCCCACAGCCCTTTGTCCAGAGGCGACTCCTAACCTTTAGCAGGCTCTGCCCTAACTTACAGTCCCACCATTGTCTGCCCCACATCCTGTCTGCCTGTCTGTGCTCCATTCTGGCCCATCCTAGGTGTCTCTGGCTGCAAAGCCTTTCCTGGGCTCAGCCTTCTGCCTTGAACGGGCCCTGACCATGAGTCCCCATGTGCCCAGCCCATACCTTTTCCCTGTCCAGCCAGGAGCCAACACAGGCCTGGAGCATTGCCTGTGGTATGGCCTGCTCGCTGCTGTTCCCGGCCTGGGTGGTCACGGACATGCAGAGGTGGCACTCAGAGTCTCGCGGCAGCCATTCTCCTGTCGGCGACCCTGGAGATGTGAGCATTAGGGGGAAAGCAGGCAAGGCCACCCTACAGAGGTGTTTGGTTTCTGTCCTCCTTGGTGCATTGCAGTGGGACCACAGAGGGAGAGGGTCATGCAGTGGCAGGGTAGGGGGAGGAGGAGAGCAGGCATTGGGCTAAGGAGTGGGCAGTGGGCTCACTTGGGCCAGCGCTGTCATCCATGGAGCACCGGAGGACGAGGCGGCAGACCAGCTGGGGCAGCATGCGGCCCAGCAGCGTGTCGAGCAGGATGACGGAGTAGCGCTCAGCCAGGCACTGGCAGATGCCGCCCGCCACCAGAGGTACCACGCGGCACACCTGGGCCACTGCCACAGCTAGCGCACCCTGGGGCGGGGGCGGAGAGAGGCCAGCATGGGACCTTCACTTGGCAAGCCTCCACTCTCTGCCCAGCACCCAGCTGGGCACTTCCTACGCATTCCCTCATTCTCTTCTAGAAGGGAGGGCAAGGCTATTCACAAATAAGGACACTGGGGATCAGAGAGTCCAGGGGATGCAGGGGACTCACACAGGGTCACTGAGTGTAGGAGCCAGCTTCAGACCTACGTCTGGCCCCAAAGGCTCTGGCCCACAGCTAGTGACTCTCAGACTGACATGGTGGACCTGACCTTCCCCCAATGCTTGGGATTCAGCTGCTTGCCTGACTCTCCTCTCCTGCACTTCACACAGGCATCTTGAACTCAACATGGCCAGGAGGGAGCTCTCTGTTTTTTTGCTCAAACCTGTTTTCTTCTTTAGTCTCCCCATCTCAGCTGCTGGCATTACAGAGGGCTGGTTGCTCTGGCCAGTGTGTAAAAGTCACTTTGGAGTCCTCCCTGGTCCTCACGCTCCAGGCCCATCCATGCCCAATAGCAGTGGGCCCACCTCCCAAATGCATCCCCAGGCCAGCCCTCAGCTCCGTCCCTGTCCCATCACCTCTCACTGCAATCTCTGCAGTGATCTTTCCTTCTTTCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTAGAGTACAGTGGCGTGATGTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGTCACATCTGGCTAATTTTTGTATTCTTAGTAGAGACGGGGTTTCGCCATGTTGCCCAAGCTGGTCTTGAACTCCTGGGCTCAAGTGAACCACCTGCCTCAGCAGGAACCTCACCTGCTGCCTTGTGCCCCTGGTGGCCCACGCAACCCTATCTGGGAAAGGCTGAGGGGGCAGGGCCTTTCCTCATTTGGGCCCCAATTTGGGCAAGGTAGCCCTGGGCTGGCGGGGCCATTGGACAATAGCCACTGCAGGTCTGGAAGACTCCAAGTTGGACTCAGGCAAGGATGGGGAATCTATCTGTGGAAATTCCCCTCTTGAAAGATCAAAGCAACCTTTCTACAGAGACCTCTGGGGATCTTTCTCCATCAGATGGTGAGCTGCTGGAGGACAAAGCTGCGTCTTGTCCGTTTTTGTACTTTGGCTCCTGGCGTGGCACCTCCATACAGTGGGGGCTTAATGTTTGTTGCATGAACTGTAGGCCTGGCACCTACCAGGCCTGAGCCTGAGCCCCAGGGTCCCCTGGGTGGGGGCAATGCACAAGCGGCTCTCTCCCCTCCTAACTTCTGGCAGCCAGCTGGGTCCTGACGGGGGTGTGAGTTGGGAGAGAGGTGGGAGCTGCAGGGAGCTACAGGTATGCGTGTGCTCCTGGGCTCTGTGAGGCCCTGGATGCCTCACCTTGGGAATCATGGCTTGGATCCGCTTGATCAGAGCCCTGCAGAGCCAGCAATAGGGGAGAGGAATGGGGAATTGCTGCTCGGAGAGATCCTGGGGAAAGAATCAGGTGGAGGCCAGGCTGGGTGCTGGGAGAAGAGTCCTCCAGGCTCTCCTCCCCTCTCTCTTCCTCCCTTTCTCTCCCTCCTCCCTTAGGCCCTGCCTGGAGCTTCCTATCACCTTCCCGGCTCTGCCTCTCCCAGGGCCCAGTGCCCATGGGCTTCGGAGGTGGCTCTAGCCCTCTGGATCTCCACTTTACTGGCTGTGGGGGCCTCCCTCACCTGTGTGTGAGGCCCAGGCCTCGCCTGGAGGGCCCCGGGCAGCACAGGGAGGACGAGCTTGTCCAGCAGAGGGTCTGGCAGAGGGTCCCGCAGAGGTTTGGGCAGGGGGTCTGACATCCCTGGCTCCTGCTCTGGCTCTGGCTGCCGGGATTTGCACAGGCCCAGGTGCATACAGATGCCGTTTGAGTCCTGGGGCACAGCACAGGGT
AGATGTTCACTCCAGAACACCCACTTTGTACCCCCACCCCACCAGCACACACTGGCCAGGGAACACAGCCCCATCCTATAATGGACATCCAGCCGCACTCCTCAGGCCATCCCTCCCTTCCCATCCCCCTTTTCCATGCTCTCATGATTTTTTACACTGAAACAGAGAGGGGTGCCTCCCAGTCCCTGGCCCGTGCACCTGGGACCACCTTGGACCCAGGGGAGTGAGGCCTCTGAGGATCACGGGCCCAAAGGGTGGGGGCTCTGGGAGCCAAGGGAAGTCCTAGGACCAACTGGGAGGGGTGGGTGTACCTGGCAGGTGGTGTGGGCATCCCAGCCCCTGGGCACCAGGGTCAGCAGCTGGGGCGTGTGCTGCTCCACAAATTGCTTGCACTGAGGAAGGAGACACACAGCTGTGGAGGGTCCCTTTGCAGGACTCTCCTGTCGTGTGGTCCTGGCCTCTCCACATCTCTGGATCACTCTAGGGCTCCCTCCCGACTCCTCCATCAGCCCTCACGGAACACCTCTGGCTGCAGTTGAAACCCTTAACAAACTGGAGCCAGCTGAAATGGAGGACTTCCATCAGAAAAGCAGGCGACACTGGAGACGGAGGACTCAGGCAGAGGGGTGGAATCTCAGCCACCACCCTCCCCTCCCTCCACCTCCATTTCAGTTCTAGAAGGAAACTTAACGTTCATCTGGTCCTTGAGACCAGATGTGATGGGCAGTCGGGAGGCTTGGGAGTTGCTGAGCAGGGAGCACAGTGTGGACAGCTGCCTCCTGGGAAGAGCATCAGCTGGCTTTCCTCAGGACAGGATCTCGCTTTAAGAAGGGAATTTCCTGTCCGGGTGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTCAGGTCAGGGGTTCGAGACCAGCCTGACCAATATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCGGGCCTGGTAGCACATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCCTGAACCCGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGGAATTTCCTGTCATTGACTGAGTATTGGCAAGGGCCCTAGGACCTTCAAGTCCAGCCCTCTCCTTTTGCCAATGGGTTTGTCCTGAGTGAGTCACACCTTGAGGAGTGTGGGGGCAGTAAAGGGATCAGGACCCTGGAGAGAAGGCTAGTCCCTTTCCTGGCTTGAACTGGCCCTAGCATTACTCATCTCCTGGTAGATAACCAGGCCTCTGAAGGCTTGCCTGGTGCTCACTCAGCCCGTGAAGAGGGCCTGCTGGTCCTCTGGAGCCCACAGCCCTTTGTCCAGAGGCGACTCCTAACCTTTAGCAGGCTCTGCCCTAACTTACAGTCCCACCATTGTCTGCCCCACATCCTGTCTGCCTGTCTGTGCTCCATTCTGGCCCATCCTAGGTGTCTCTGGCTGCAAAGCCTTTCCTGGGCTCAGCCTTCTGCCTTGAACGGGCCCTGACCATGAGTCCCCATGTGCCCAGCCCATACCTTTTCCCTGTCCAGCCAGGAGCCAACACAGGCCTGGAGCATTGCCTGTGGTATGGCCTGCTCGCTGCTGTTCCCGGCCTGGGTGGTCACGGACATGCAGAGGTGGCACTCAGAGTCTCGCGGCAGCCATTCTCCTGTCGGCGACCCTGGAGATGTGAGCATTAGGGGGAAAGCAGGCAAGGCCACCCTACAGAGGTGTTTGGTTTCTGTCCTCCTTGGTGCATTGCAGTGGGACCACAGAGGGAGAGGGTCATGCAGTGGCAGGGTAGGGGGAGGAGGAGAGCAGGCATTGGGCTAAGGAGTGGGCAGTGGGCTCACTTGGGCCAGCGCTGTCATCCATGGAGCACCGGAGGACGAGGCGGCAGACCAGCTGGGGCAGCATGCGGCCCAGCAGCGTGTCGAGCAGGATGACGGAGTAGCACTCAGCCAGGCACTGGCAGATGCCGCCCGCCACCAGAGGTACCACGCGGCACACCTGGGCCACTGCCACAGCTAGCGCACCCTGGGGCGGGGGCGGAGAGAGGCCAGCATGGGACCTTCACTTGGCAAGCCTCCACTCTCTGCCCAGCACCCAGCTGGGCACTTCCTACGCATTCCCTCATTCTCTTCTAGAAGGGAGGGCAAGGCTATTCACAAATAAGGACACTGGGGATCAGAGAGTCCAGGGGATGCAGGGGACTCACACAGGGTCACTGAGTGTAGGAGCCAGCTTCAGACCTACGTCTGGCCCCAAAGGCTCTGGCCCACAGCTAGTGACTCTCAGACTGACATGGTGGACCTGACCTTCCCCCAATGCTTGGGATTCAGCTGCTTGCCTGACTCTCCTCTCCTGCACTTCACACAGGCATCTTGAACTCAACATGGCCAGGAGGGAGCTCTCTGTTTTTTTGCTCAAACCTGTTTTCTTCTTTAGTCTCCCCATCTCAGCTGCTGGCATTACAGAGGGCTGGTTGCTCTGGCCAGTGTGTAAAAGTCACTTTGGAGTCCTCCCTGGTCCTCACGCTCCAGGCCCATCCATGCCCAATAGCAGTGGGCCCACCTCCCAAATGCATCCCCAGGCCAGCCCTCAGCTCCGTCCCTGTCCCATCACCTCTCACTGCAATCTCTGCAGTGATCTTTCCTTCTTTCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTAGAGTACAGTGGCGTGATGTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGTCACATCTGGCTAATTTTTGTATTCTTAGTAGAGACGGGGTTTCGCCATGTTGCCCAAGCTGGTCTTGAACTCCTGGGCTCAAGTGAACCACCTGCCTCAGCAGGAACCTCACCTGCTGCCTTGTGCCCCTGGTGGCCCACGCAACCCTATCTGGGAAAGGCTGAGGGGGCAGGGCCTTTCCTCATTTGGGCCCCAATTTGGGCAAGGTAGCCCTGGGCTGGCGGGGCCATTGGACAATAGCCACTGCAGGTCTGGAAGACTCCAAGTTGGACTCAGGCAAGGATGGGGAATCTATCTGTGGAAATTCCCCTCTTGAAAGATCAAAGCAACCTTTCTACAGAGACCTCTGGGGATCTTTCTCCATCAGATGGTGAGCTGCTGGAGGACAAAGCTGCGTCTTGTCCGTTTTTGTACTTTGGCTCCTGGCGTGGCACCTCCATACAGTGGGGGCTTAATGTTTGTTGCATGAACTGTAGGCCTGGCACCTACCAGGCCTGAGCCTGAGCCCCAGGGTCCCCTGGGTGGGGGCAATGCACAAGCGGCTCTCTCCCCTCCTAACTTCTGGCAGCCAGCTGGGTCCTGACGGGGGTGTGAGTTGGGAGAGAGGTGGGAGCTGCAGGGAGCTACAGGTATGCGTGTGCTCCTGGGCTCTGTGAGGCCCTGGATGCCTCACCTTGGGAATCATGGCTTGGATCCGCTTGATCAGAGCCCTGCAGAGCCAGCAATAGGGGAGAGGAATGGGGAATTGCTGCTCGGAGAGATCCTGGGGAAAGAATCAGGTGGAGGCCAGGCTGGGTGCTGGGAGAAGAGTCCTCCAGGCTCTCCTCCCCTCTCTCTTCCTCCCTTTCTCTCCCTCCTCCCTTAGGCCCTGCCTGGAGCTTCCTATCACCTTCCCGGCTCTGCCTCTCCCAGGGCCCAGTGCCCATGGGCTTCGGAGGTGGCTCTAGCCCTCTGGATCTCCACTTTACTGGCTGTGGGGGCCTCCCTCACCTGTGTGTGAGGCCCAGGCCTCGCCTGGAGGGCCCCGGGCAGCACAGGGAGGACGAGCTTGTCCAGCAGAGGGTCTGGCAGAGGGTCCCGCAGAGGTTTGGGCAGGGGGTCTGACATCCCTGGCTCCTGCTCTGGCTCTGGCTGCCGGGATTTGCACAGGCCCAGGTGCATACAGATGCCGTTTGAGTCCTGGGGCACAGCACAGGGT
Task1_train_3807
Chromosome 2 houses a mutation in gene SFTPB (surfactant protein B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; not provided
CTGGCAGAGGGTCCCGCAGAGGTTTGGGCAGGGGGTCTGACATCCCTGGCTCCTGCTCTGGCTCTGGCTGCCGGGATTTGCACAGGCCCAGGTGCATACAGATGCCGTTTGAGTCCTGGGGCACAGCACAGGGTGGGAGTGTTAGGGTCTGGGAGGGAAGCCCACCCCTATTCAGGCCGGCCCAAGGGCTCAGGGACCACTGGAATGGGAGGAAGCAGGCCTAGTGGGGGTGCTGTGGTTTAGAACTCTATGTGGGGGGACAAAAGGCAAAGATAGGGCTGTGTGGGGACTTTAGGGCAGGTGGCCGGGATTGTGTGTGAATGAGCATGAGCATATATGTGAGAATGAATAAGTGTGTAAGCATGTGTGTGAGAGTGAGGGTGTAAGGGTGTGTGAGCGTACAGGCCCACCGTGTGCACCTGAACCTGGGGGCCCATGGTCGGGTGCATGGCTGAAGGGCACGTAGTTTCCTAGGCCCTTTGTGGACAGGGTGTGTGTGTGTGTGTGTGTGGCCAGCTGGGGTGCTGTGTGTGTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTGGCTGGGGTACTGTGTGGGTATGTGTCTGGATGGAGTGCTGTGTGTGTGTGTGTTTCCAGCTGGCTGGGGTACTGTGTGTGTGTATGTGTCTGGATAGGGTGCTGTGTGTGTGTGTGTCCGGCCAGCTGGGGTACTGTGTGTGTGTGTGTCCGGCCAGCTGGGGTGTTGTGTGTGTGTGTGTGTGTGTGTCCGGCTGGCTGGGGTGCTGTGTGTTTGTGTCTGGCCGGCTTGGGTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTGGCTGGGGTGCTGTGTGTGTGGCTCCCCATGGGTGGGCACAGGGGCCTGCGTGGGGAGGCAGGCAGGAGGTGAGCTTGCAGCCCTCACAGTCTGGTTCTGGAAGTAGTCGATGACCAGGGGGAAGTAGTCGTCAAGCACTTGGTTGCACTGGGGCATGAGCAGCTTCAAGGGGAGGACGTTGCACTCCTGCTCCAGGAACTTCCTCATCGTGTCCTGGGAGGCCAGAGGGGGCCGTCAGCTGGGCCTCTCTGAGGTCTACCCCGCCCAAGTCCCTGGACACAAGGCCCCACCAGGGCAGACTGACCCCTAATCCCCCAGGGTGCTGGAGTTCACGAGTGCCAAGGAGTTAAGTAGTTGGGCACATGTAGGGGCCCTTCCCCTCAGGGAAGACCATCTCTGGCTGTGCTATTGAGCTCAGGGCCATGACCTGCTCCCAGCCAGGAGGAGCTGGGACTTCCCAGGCACCCAGGCCTCCTCCTCAGCCTGGAAATGGCCCCTTTAGGGGGCTCAGCTCTTCCCTGCTCTGTCCCTCATCTCTTGGGCCCCAACCTTCATCCAGGATCTGGGCATCATTACCTGGAAAATGGCCTCCTTGGCCATCTTGTTAAGGATGTGGACGATGTCCTCACACTCTTGGCATAGGTCATCCTGGGGAGGGAGGGGCCCCAAGGTGGAGGACACATGAGTGGGGGAGGCTCCCAGCTCCAATGGGGAGGTTCTCTTAGGAAGAGGCCAACAGAGCACTCCAAGGCACATGCAGCTGCCCACCAGCCCAACTTGTCCCATCTCATCCATATCAATTTATCCCATCCATCTCTTCTATTCATCCATCCCAATCCATCCATCTTTATTCTGTGTCATCCCATCCCATCCCATCCCATCCCATCCATCTTTATTCTATGTCATCCTATCCTATCCCTTCCCCTCCCATCCATCCCATCCCATCCCATTCATCCGACTCCATCTATTCTATGTCATCGTATCCCATCGCATCCATCCCATTCCATTTTATCCTATCTCATTTCATCTCATCCCATTTCATCTCATCCATCCCCTATGGGGGCTCCACTCTCCTCCTGCCCATCCAGAGCCCACCCAGCACCCTTCATTTCAGACCCCCAGTTGCCATGCATCCTTGGTGGTACTCACGGCTCCCACATGTCCCCAGACTTCCTGTAGGCAATGCCCTAGGGCTCTGCACTGCAATGCTTGCTCCAGGCTTTGGCACCAGAACTCAGGGCCCTGGGCACAGGCCAAGGATGAGGTGGTCCAGGCAGCTGTGGTTTGGGGCCAGAGCAACCTTAATCAGGATCCAGGCTACACACCTGGCATCATGATTTCACCCACCCTCTAGACCCAGTTTTGCTGGGAGTGTGAGGCCATTAAACATGTGGACGTCAGACAGCTCTGGGTTCCACCTGCTCCTGGACCCGCCAGCTGTGTGACCTTGGATAAGCTCTGAACCCTCTCTGAACCCCAGCTGCCTTGTCTTTAAAATGAGGACAGACTTGGGTTAATGCCTAGCACAAAGCAGTGCTCAGTGAGTGGTGGAGCTGCCTAGGAGAGGGGAGGCTGGGGGAGACTCACCAGTGCCTGGGCCACAGAGCGTGGGCAGCAGCAGCAGCAGCCACTGCAGCAGGTGTGACTCAGCCATGGCACCTCTGCAGCCTGGGTACCCTGCTTGGTGCATGGCCCCTTATAGCTGGGCGGGGCGTGGGGGCTCTGTAGGAGTGGCAGCGACCTCAGTGTTTGTCTTTGCTCTGAAGAGCCCTCCAGGTGCTTGATCCCACCTTTTCCCAGCAGGAACACTCCTGCCTGCCTTACCACCTGTCCTGGCTGATGGCCTGTTCCTGCCTCCTTTGCCCCCTGCCCAGACTCCCATGTTCCTGGACTTGTGGCTTCCTCCAACCAGGGGCTCTCAAGCCTCCATACCTGGTCCCACCTCTCCAGGCCGTGGGAGGGAGGTTGAGGAGGGTGGAGGGCATCTGGTTGGGGGCAGCCTGGGTGTTCCCCTCCCATCCCCTCCCTGGGCCTCCCAGGCCCCCTCTACTCTTGAGCAATGCTCTTGAGAGCTTCCTGCCTGGCTCTTAACCCAGGGCAAGCCCTGGAAGGGCAGACCCAGGACACTCTCACCACCTCCTTACCTTTTCCCCTGGAAAAATCTTCTGGTTCTATGGACACATGGTTTGCATTAGTCAGAAGAGCATTTACACAAAACAGAAAACAAAATACCCTGAGTCAGAGACAAGATTTCTGTGGCCCTGGAGTGGCTCCCAGACAGCCCTATACAGGAGGTGCTGCCCATGGCCCCTGGGGACCCCTCCAGGGTAGGGGCTGGGGCATAGCTGCGATGGTTCAGCAGAAAGAAACTGTCCTCTGCAGCTGCAGGGGCTCTCAGGCAGGGCCCCCACTGGCAGAGCACACTGGAGAAAAAGCTCACAGGCTGAGGGAGACAGAGGATATCTTGAGTGGAAGAAAGAGAGCATTAGCACATTGCCACCACCCCAGCCATTGTGATCAATTTATCTGATCTCTGCAGGAGCCCTCTCCCTAGTGGAGGCTCACAGGCCTCTATACTCGGGAAGCACTACAGTGCTTTTGTGGGTGGACGGGCAGGAATTAGTACCATGATGAAAAGAGATGGGGCTGGGTGTGGTGGCTCACTCCTGTAATCCTGGCACTTTGGGAGGCCGAGGAGGGAGGATCCTTTGAGCCCTGGAGTTTGAGACCAGCCTGGCCAATATAGTAAGACTCCATAACTACAAAAAAATTAAAAAATTAACCTTGTGTGGTGGTGCATGTCTCTGGTCCCAGCTACTCAGAAAGCTGGGGCAGGAGGATCGCTTGAGCCCACCAGGTCGCGGCTGCAGTGAGCCATGATTGCACCGCTGCACTCTGGAATGGGAGTGTGAGGCCATTAAACATGTGGCCATTAAACATGTGACTGAGCTGAGGGTGTCCTGGCTCCTGGTCCCTGGGATGGGCAGTCTCCTGACACCATGTTGGCCAGGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATTAGATACAAGGTGGCTAATGCCACACTCAAGGTTACCCAAGGATTTATGTAGTTTCTGTTGGCCTCAAGTCCTTGTCAGTACAACAAACACAGCTGCCATCATGGGAGTCCACCAAGACTGTGTAAAAATGAGTAACCAAAGACTGGGAACTGAGTGACCTTGGTAGAACCTCAGGAAGGTGGAACTGAAACGTGCTT
CTGGCAGAGGGTCCCGCAGAGGTTTGGGCAGGGGGTCTGACATCCCTGGCTCCTGCTCTGGCTCTGGCTGCCGGGATTTGCACAGGCCCAGGTGCATACAGATGCCGTTTGAGTCCTGGGGCACAGCACAGGGTGGGAGTGTTAGGGTCTGGGAGGGAAGCCCACCCCTATTCAGGCCGGCCCAAGGGCTCAGGGACCACTGGAATGGGAGGAAGCAGGCCTAGTGGGGGTGCTGTGGTTTAGAACTCTATGTGGGGGGACAAAAGGCAAAGATAGGGCTGTGTGGGGACTTTAGGGCAGGTGGCCGGGATTGTGTGTGAATGAGCATGAGCATATATGTGAGAATGAATAAGTGTGTAAGCATGTGTGTGAGAGTGAGGGTGTAAGGGTGTGTGAGCGTACAGGCCCACCGTGTGCACCTGAACCTGGGGGCCCATGGTCGGGTGCATGGCTGAAGGGCACGTAGTTTCCTAGGCCCTTTGTGGACAGGGTGTGTGTGTGTGTGTGTGTGGCCAGCTGGGGTGCTGTGTGTGTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTGGCTGGGGTACTGTGTGGGTATGTGTCTGGATGGAGTGCTGTGTGTGTGTGTGTTTCCAGCTGGCTGGGGTACTGTGTGTGTGTATGTGTCTGGATAGGGTGCTGTGTGTGTGTGTGTCCGGCCAGCTGGGGTACTGTGTGTGTGTGTGTCCGGCCAGCTGGGGTGTTGTGTGTGTGTGTGTGTGTGTGTCCGGCTGGCTGGGGTGCTGTGTGTTTGTGTCTGGCCGGCTTGGGTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTGGCTGGGGTGCTGTGTGTGTGGCTCCCCATGGGTGGGCACAGGGGCCTGCGTGGGGAGGCAGGCAGGAGGTGAGCTTGCAGCCCTCACAGTCTGGTTCTGGAAGTAGTCGATGACCAGGGGGAAGTAGTCGTCAAGCACTTGGTTGCACTGGGGCATGAGCAGCTTCAAGGGGAGGACGTTGCACTCCTGCTCCAGGAACTTCCTCATCGTGTCCTGGGAGGCCAGAGGGGGCCGTCAGCTGGGCCTCTCTGAGGTCTACCCCGCCCAAGTCCCTGGACACAAGGCCCCACCAGGGCAGACTGACCCCTAATCCCCCAGGGTGCTGGAGTTCACGAGTGCCAAGGAGTTAAGTAGTTGGGCACATGTAGGGGCCCTTCCCCTCAGGGAAGACCATCTCTGGCTGTGCTATTGAGCTCAGGGCCATGACCTGCTCCCAGCCAGGAGGAGCTGGGACTTCCCAGGCACCCAGGCCTCCTCCTCAGCCTGGAAATGGCCCCTTTAGGGGGCTCAGCTCTTCCCTGCTCTGTCCCTCATCTCTTGGGCCCCAACCTTCATCCAGGATCTGGGCATCATTACCTGGAAAATGGCCTCCTTGGCCATCTTGTTAAGGATGTGGACGATGTCCTCACACTCTTGGCATAGGTCATCCTGGGGAGGGAGGGGCCCCAAGGTGGAGGACACATGAGTGGGGGAGGCTCCCAGCTCCAATGGGGAGGTTCTCTTAGGAAGAGGCCAACAGAGCACTCCAAGGCACATGCAGCTGCCCACCAGCCCAACTTGTCCCATCTCATCCATATCAATTTATCCCATCCATCTCTTCTATTCATCCATCCCAATCCATCCATCTTTATTCTGTGTCATCCCATCCCATCCCATCCCATCCCATCCATCTTTATTCTATGTCATCCTATCCTATCCCTTCCCCTCCCATCCATCCCATCCCATCCCATTCATCCGACTCCATCTATTCTATGTCATCGTATCCCATCGCATCCATCCCATTCCATTTTATCCTATCTCATTTCATCTCATCCCATTTCATCTCATCCATCCCCTATGGGGGCTCCACTCTCCTCCTGCCCATCCAGAGCCCACCCAGCACCCTTCATTTCAGACCCCCAGTTGCCATGCATCCTTGGTGGTACTCACGGCTCCCACATGTCCCCAGACTTCCTGTAGGCAATGCCCTAGGGCTCTGTACTGCAATGCTTGCTCCAGGCTTTGGCACCAGAACTCAGGGCCCTGGGCACAGGCCAAGGATGAGGTGGTCCAGGCAGCTGTGGTTTGGGGCCAGAGCAACCTTAATCAGGATCCAGGCTACACACCTGGCATCATGATTTCACCCACCCTCTAGACCCAGTTTTGCTGGGAGTGTGAGGCCATTAAACATGTGGACGTCAGACAGCTCTGGGTTCCACCTGCTCCTGGACCCGCCAGCTGTGTGACCTTGGATAAGCTCTGAACCCTCTCTGAACCCCAGCTGCCTTGTCTTTAAAATGAGGACAGACTTGGGTTAATGCCTAGCACAAAGCAGTGCTCAGTGAGTGGTGGAGCTGCCTAGGAGAGGGGAGGCTGGGGGAGACTCACCAGTGCCTGGGCCACAGAGCGTGGGCAGCAGCAGCAGCAGCCACTGCAGCAGGTGTGACTCAGCCATGGCACCTCTGCAGCCTGGGTACCCTGCTTGGTGCATGGCCCCTTATAGCTGGGCGGGGCGTGGGGGCTCTGTAGGAGTGGCAGCGACCTCAGTGTTTGTCTTTGCTCTGAAGAGCCCTCCAGGTGCTTGATCCCACCTTTTCCCAGCAGGAACACTCCTGCCTGCCTTACCACCTGTCCTGGCTGATGGCCTGTTCCTGCCTCCTTTGCCCCCTGCCCAGACTCCCATGTTCCTGGACTTGTGGCTTCCTCCAACCAGGGGCTCTCAAGCCTCCATACCTGGTCCCACCTCTCCAGGCCGTGGGAGGGAGGTTGAGGAGGGTGGAGGGCATCTGGTTGGGGGCAGCCTGGGTGTTCCCCTCCCATCCCCTCCCTGGGCCTCCCAGGCCCCCTCTACTCTTGAGCAATGCTCTTGAGAGCTTCCTGCCTGGCTCTTAACCCAGGGCAAGCCCTGGAAGGGCAGACCCAGGACACTCTCACCACCTCCTTACCTTTTCCCCTGGAAAAATCTTCTGGTTCTATGGACACATGGTTTGCATTAGTCAGAAGAGCATTTACACAAAACAGAAAACAAAATACCCTGAGTCAGAGACAAGATTTCTGTGGCCCTGGAGTGGCTCCCAGACAGCCCTATACAGGAGGTGCTGCCCATGGCCCCTGGGGACCCCTCCAGGGTAGGGGCTGGGGCATAGCTGCGATGGTTCAGCAGAAAGAAACTGTCCTCTGCAGCTGCAGGGGCTCTCAGGCAGGGCCCCCACTGGCAGAGCACACTGGAGAAAAAGCTCACAGGCTGAGGGAGACAGAGGATATCTTGAGTGGAAGAAAGAGAGCATTAGCACATTGCCACCACCCCAGCCATTGTGATCAATTTATCTGATCTCTGCAGGAGCCCTCTCCCTAGTGGAGGCTCACAGGCCTCTATACTCGGGAAGCACTACAGTGCTTTTGTGGGTGGACGGGCAGGAATTAGTACCATGATGAAAAGAGATGGGGCTGGGTGTGGTGGCTCACTCCTGTAATCCTGGCACTTTGGGAGGCCGAGGAGGGAGGATCCTTTGAGCCCTGGAGTTTGAGACCAGCCTGGCCAATATAGTAAGACTCCATAACTACAAAAAAATTAAAAAATTAACCTTGTGTGGTGGTGCATGTCTCTGGTCCCAGCTACTCAGAAAGCTGGGGCAGGAGGATCGCTTGAGCCCACCAGGTCGCGGCTGCAGTGAGCCATGATTGCACCGCTGCACTCTGGAATGGGAGTGTGAGGCCATTAAACATGTGGCCATTAAACATGTGACTGAGCTGAGGGTGTCCTGGCTCCTGGTCCCTGGGATGGGCAGTCTCCTGACACCATGTTGGCCAGGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATTAGATACAAGGTGGCTAATGCCACACTCAAGGTTACCCAAGGATTTATGTAGTTTCTGTTGGCCTCAAGTCCTTGTCAGTACAACAAACACAGCTGCCATCATGGGAGTCCACCAAGACTGTGTAAAAATGAGTAACCAAAGACTGGGAACTGAGTGACCTTGGTAGAACCTCAGGAAGGTGGAACTGAAACGTGCTT
Task1_train_3808
Given this variant in gene ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; GM3 synthase deficiency
ATGTGCAAGAACCACTGGAAGAGGGCCAGGTGCAGTGGCTCATGTTTGTAATCCCAGCACTTTTGGAGGCTGAGGCGGGTGGATCTCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAACTGGGCGTGGTGGCAGGCGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGATGCGGAGGCTGCAGAGAGCCAAGACTGCACCACTGCACTCCAGCCCTCTAGCCTGGACAACAGAATGAGACTCCATCCCCAAAAAAAAGAATTGCTGAGGGGTTTCTACAAAGAGAGTGATCATCATTTGAAAGACAACACATAAGTATGCATTCCGCTCTGCGTGTTTAAAAATAAAAGGCTATAATTACAACTAAGTAAGACTCCTTCACTTTTTACTAAGGCAGATTTAATAGAAGTATTAGTGCTTACCAGGGTTTCCTTTTTTACCATTGCTTGAAGCCAGTTGAAATCAACACTCTTAAATAAAACAGCAACAAATAAGTCATTGGAATAATATTCAAGGTCAGACAGTGGTGCGCCCTCTGGATAAGTCATCCTTATAGTAGTTTTATTTCCAACATGTTCTGAATATCCCTCAACTGGTGCACTGTTTAACCTATTTAAATAAAAAGGACAAAGACACACTGACAAAGCAGGCCATCAACCATCTCTGTACACCAGGCAGTATCCATGTCATGTCCTCCACGTCTTCTTATGACTAAGAATGAGTGCATGGTTTGCAGCCTCATCTCCCCTCCCAGCTCTGTCTTTCTAGGATTTCGAGGAATGCAGCCTTTAGTACTTGAGCGAACACTTGTATCTAATCCCTGAATGTCAAGCAATTTCATCTAGCCCTAATATTTTTACTCAATCTAAGCATATTACATTTGGGACTTTCTCTGGGTGCCAGTAAAATATCCTCAGAAATTTTCCATTGTGCTCAGATGTTAGTTCTTGCCAGAATTTCAAAAAAGGAATCAGAAGGGAAAATCTAGTCCACCATGCCTGGCTGACTTTTTGATTTTCTGTAGAGACAAGCTGTCTCTATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCTGGCCAGAAAACAATTTTTAAACAGTGAAACCAAAAAAGAATCTAGGATGACTGCCTATTGGCTATCATGGTGAGTCTGAACTTCTCTGTGTGCCTTCCATGTCCCAGCCAGCACTGCCTTCCAGGACTCACTGGCCCCAAGCCCCTTCTCCAGAAGCCAGGCCCCTCATTGACTCAAGTCTCTTGCTGTGTCCTCTTCTTGCCCCTGTCTGGGAGTTGTGGTCCTTTGCTGTTTTACTTGAATCTACCCACCTTCCAAATCTCACTTCCTCTGACAAGGTTCTGCCACTTACTGTAGCCAGCAGCATGCTCCTCCAACTTAGGGTCAGTATGACAGTTTGGAGCATCCAACCATTTTGTGTTTTTGTTTCAACTTCTCAAACGTTAAGTCCCTTGTGGGCAGGGACTGTGAAGAGCTTCCTGTGTCCCTCACTGTTCCTGGAGCCACACTGACCAAGAGCAGTGCACTGAGTTCTAGAGGAGAAAGGTTGGTTTTAAAAGCGATGTACCCCAGTCTGGGCAATTCGGAGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCCACGCGTGGTGTGTGCCTGGGGTCCCAGCTACTGGGGAGGCTGTGGTGGGAGGATCTCCTGAGCCTGGGAAGTTGAGGCTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGACAACAGGAGTGAGACCCTGCCTCAAAAAATAAAATAAAATAAAAACAATAAAAATAAGTAAACAAACAAACAAAAAAAACCAATGTACCTTATCACAACATCGAACTGGTTCAGGGTGTGGCCCAGTTCTAATCCGTGCAGTATTCCTCCGCTTCCAATAACCACACAGCGCCGACAGGTCTTGGCTTTCAAGTGTTCAGGGAGGTCGTGCTCTGGCAAGAGTTCCAAGAGGGTCTGGACTTTACTGGAGAACTTCCGGAACCCAAAAGGAGGATCGTACTTGGACTCAGCTTCACTGTCTTTGGGGGCCTTCTGCACAAAAGGGAGTAAGTCCACGCTATACCTGTGCTCAAATAACAGCGCCATTGATGTCTTGGCAAACTTGGGACGACATTCCTTCTGCAAGACTTGCTGAGCATATTTCTGAGCTCTCTGGAATGAAATCACACCAATCTGGGTTTTAAAAACTCTCCTGCATTAAAAATATACTCTTCTAGATGACAATTTGTCCTATGATGTCTGATGTAGCTCCCGTGTTGATTACTGTCTTTTAACACAGAATATTTGCTTTTTAGAGTTAAGTTTGGCTCAGAAACTTGAAGAAACAACCTGGGAGAATCACATGACAAGGAGATAAACACAGCAGGGTATTCATTTCATTGCACAGGCAAAGCAAGAAGGACTCCCGCCTCCCACCCCCAGCCTAACACTGTTCAAATACATTTGGGGTGAAAATGTACTTCGGGGTGTCTAAGACTTCATGTTTCATAAAATTCTGATACATGCTACAACATAGTTAAACTTTGAGGACATTATGCTAAGTGAAGCCAGTCACAAAGAGACAAATACTGTATGACCTGACTTATATGAGGTATCTAAAGTAGTCAAATTCATAAAAACATGGTTACCAGGGTTGAAGAGAGGGAGAAAAGGGGAGTTGTTTAATAGGTACAGCGTTTCGGTTTTGCAAGATGAAAACATTCTAGAAATTTGTTTCACAAGAGTTTAAATATACTTAATGCTGCCAAATGGTACATTTAAAAATAATTATGATGGTAAATTTTATGTTTTTTTTAACCACGATTAAAAAAAAGGTTTCATATATCAGGTTCTCATCTAGCAGGATGACAAACAGGCTTATTTATCAGTTGAGATACAGAATGTCACAGTCTAGAATGCAAATTACCTGAAAGAATCAGGGAATGTCCCCTTAACACAGAAATTGCATTGGTTTCAAAGCATTTTCCCAGCCTGCATTTCCATATGCATTTTAATGTTTTGCCTCAGCCAGGAGCTGCGTGAATGCAACAAAACTCAGAGGAAAGGCGGGCATGGCGGGTCACACCTATAATCTCAGCACTTTGGGAGGCCAAGGTGAGAGGGTTGCTTGAGCCCAGGAGTTCGAGGCTAGCCTGGGCAACATGGTGAGACCCCACCTATACAAAAAATTTTTTAAAAAATGGGTCAGGAGTGGTGGTGTGCCCCTGTGGCCCCAGCTACATGGGAGGCTGAGGCATGAGTATCGAGTGATCCTCAACCTGGAAGGTTGACACTGTAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACCCTGTCTCTAAAACAAAAACAAGAACAAAAACATGACCATCCTGGCTAATACGGTGAAACTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCACGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGTGCCACTATACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAACAAAAAAACAAACAAAAAACCCCCCAAAAAACAAAAACGCAACCTTGGAGGAATATGGTATGCGTGTCCATTCACCCCAGTCTTCCTCTTGGCTCAGCTGGACAAATGCTGACTCAGAACCCCTGTCAGGTAGTTCTTCCTATCTTTGTGCTTTTTTATCCTTGTCTCCATATTTAGCAGCCTTGGAATTGGCCCTGCATTACTCCTCCTATTCACTACCTTCTCACAGGCAGAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAATCCTATATTTACTGGGATATTTATTAGGAATTCAACATATCTTTTCAACTTTGTCAGTATCATTATGAGGATTATTACTGGGGTATAGGTTTAAA
ATGTGCAAGAACCACTGGAAGAGGGCCAGGTGCAGTGGCTCATGTTTGTAATCCCAGCACTTTTGGAGGCTGAGGCGGGTGGATCTCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAACTGGGCGTGGTGGCAGGCGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGATGCGGAGGCTGCAGAGAGCCAAGACTGCACCACTGCACTCCAGCCCTCTAGCCTGGACAACAGAATGAGACTCCATCCCCAAAAAAAAGAATTGCTGAGGGGTTTCTACAAAGAGAGTGATCATCATTTGAAAGACAACACATAAGTATGCATTCCGCTCTGCGTGTTTAAAAATAAAAGGCTATAATTACAACTAAGTAAGACTCCTTCACTTTTTACTAAGGCAGATTTAATAGAAGTATTAGTGCTTACCAGGGTTTCCTTTTTTACCATTGCTTGAAGCCAGTTGAAATCAACACTCTTAAATAAAACAGCAACAAATAAGTCATTGGAATAATATTCAAGGTCAGACAGTGGTGCGCCCTCTGGATAAGTCATCCTTATAGTAGTTTTATTTCCAACATGTTCTGAATATCCCTCAACTGGTGCACTGTTTAACCTATTTAAATAAAAAGGACAAAGACACACTGACAAAGCAGGCCATCAACCATCTCTGTACACCAGGCAGTATCCATGTCATGTCCTCCACGTCTTCTTATGACTAAGAATGAGTGCATGGTTTGCAGCCTCATCTCCCCTCCCAGCTCTGTCTTTCTAGGATTTCGAGGAATGCAGCCTTTAGTACTTGAGCGAACACTTGTATCTAATCCCTGAATGTCAAGCAATTTCATCTAGCCCTAATATTTTTACTCAATCTAAGCATATTACATTTGGGACTTTCTCTGGGTGCCAGTAAAATATCCTCAGAAATTTTCCATTGTGCTCAGATGTTAGTTCTTGCCAGAATTTCAAAAAAGGAATCAGAAGGGAAAATCTAGTCCACCATGCCTGGCTGACTTTTTGATTTTCTGTAGAGACAAGCTGTCTCTATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCTGGCCAGAAAACAATTTTTAAACAGTGAAACCAAAAAAGAATCTAGGATGACTGCCTATTGGCTATCATGGTGAGTCTGAACTTCTCTGTGTGCCTTCCATGTCCCAGCCAGCACTGCCTTCCAGGACTCACTGGCCCCAAGCCCCTTCTCCAGAAGCCAGGCCCCTCATTGACTCAAGTCTCTTGCTGTGTCCTCTTCTTGCCCCTGTCTGGGAGTTGTGGTCCTTTGCTGTTTTACTTGAATCTACCCACCTTCCAAATCTCACTTCCTCTGACAAGGTTCTGCCACTTACTGTAGCCAGCAGCATGCTCCTCCAACTTAGGGTCAGTATGACAGTTTGGAGCATCCAACCATTTTGTGTTTTTGTTTCAACTTCTCAAACGTTAAGTCCCTTGTGGGCAGGGACTGTGAAGAGCTTCCTGTGTCCCTCACTGTTCCTGGAGCCACACTGACCAAGAGCAGTGCACTGAGTTCTAGAGGAGAAAGGTTGGTTTTAAAAGCGATGTACCCCAGTCTGGGCAATTCGGAGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCCACGCGTGGTGTGTGCCTGGGGTCCCAGCTACTGGGGAGGCTGTGGTGGGAGGATCTCCTGAGCCTGGGAAGTTGAGGCTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGACAACAGGAGTGAGACCCTGCCTCAAAAAATAAAATAAAATAAAAACAATAAAAATAAGTAAACAAACAAACAAAAAAAACCAATGTACCTTATCACAACATCGAACTGGTTCAGGGTGTGGCCCAGTTCTAATCCGTGCAGTATTCCTCCGCTTCCAATAACCACAGAGCGCCGACAGGTCTTGGCTTTCAAGTGTTCAGGGAGGTCGTGCTCTGGCAAGAGTTCCAAGAGGGTCTGGACTTTACTGGAGAACTTCCGGAACCCAAAAGGAGGATCGTACTTGGACTCAGCTTCACTGTCTTTGGGGGCCTTCTGCACAAAAGGGAGTAAGTCCACGCTATACCTGTGCTCAAATAACAGCGCCATTGATGTCTTGGCAAACTTGGGACGACATTCCTTCTGCAAGACTTGCTGAGCATATTTCTGAGCTCTCTGGAATGAAATCACACCAATCTGGGTTTTAAAAACTCTCCTGCATTAAAAATATACTCTTCTAGATGACAATTTGTCCTATGATGTCTGATGTAGCTCCCGTGTTGATTACTGTCTTTTAACACAGAATATTTGCTTTTTAGAGTTAAGTTTGGCTCAGAAACTTGAAGAAACAACCTGGGAGAATCACATGACAAGGAGATAAACACAGCAGGGTATTCATTTCATTGCACAGGCAAAGCAAGAAGGACTCCCGCCTCCCACCCCCAGCCTAACACTGTTCAAATACATTTGGGGTGAAAATGTACTTCGGGGTGTCTAAGACTTCATGTTTCATAAAATTCTGATACATGCTACAACATAGTTAAACTTTGAGGACATTATGCTAAGTGAAGCCAGTCACAAAGAGACAAATACTGTATGACCTGACTTATATGAGGTATCTAAAGTAGTCAAATTCATAAAAACATGGTTACCAGGGTTGAAGAGAGGGAGAAAAGGGGAGTTGTTTAATAGGTACAGCGTTTCGGTTTTGCAAGATGAAAACATTCTAGAAATTTGTTTCACAAGAGTTTAAATATACTTAATGCTGCCAAATGGTACATTTAAAAATAATTATGATGGTAAATTTTATGTTTTTTTTAACCACGATTAAAAAAAAGGTTTCATATATCAGGTTCTCATCTAGCAGGATGACAAACAGGCTTATTTATCAGTTGAGATACAGAATGTCACAGTCTAGAATGCAAATTACCTGAAAGAATCAGGGAATGTCCCCTTAACACAGAAATTGCATTGGTTTCAAAGCATTTTCCCAGCCTGCATTTCCATATGCATTTTAATGTTTTGCCTCAGCCAGGAGCTGCGTGAATGCAACAAAACTCAGAGGAAAGGCGGGCATGGCGGGTCACACCTATAATCTCAGCACTTTGGGAGGCCAAGGTGAGAGGGTTGCTTGAGCCCAGGAGTTCGAGGCTAGCCTGGGCAACATGGTGAGACCCCACCTATACAAAAAATTTTTTAAAAAATGGGTCAGGAGTGGTGGTGTGCCCCTGTGGCCCCAGCTACATGGGAGGCTGAGGCATGAGTATCGAGTGATCCTCAACCTGGAAGGTTGACACTGTAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACCCTGTCTCTAAAACAAAAACAAGAACAAAAACATGACCATCCTGGCTAATACGGTGAAACTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCACGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGTGCCACTATACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAACAAAAAAACAAACAAAAAACCCCCCAAAAAACAAAAACGCAACCTTGGAGGAATATGGTATGCGTGTCCATTCACCCCAGTCTTCCTCTTGGCTCAGCTGGACAAATGCTGACTCAGAACCCCTGTCAGGTAGTTCTTCCTATCTTTGTGCTTTTTTATCCTTGTCTCCATATTTAGCAGCCTTGGAATTGGCCCTGCATTACTCCTCCTATTCACTACCTTCTCACAGGCAGAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAATCCTATATTTACTGGGATATTTATTAGGAATTCAACATATCTTTTCAACTTTGTCAGTATCATTATGAGGATTATTACTGGGGTATAGGTTTAAA
Task1_train_3809
This variant lies on Chromosome 2 and affects the gene LOC126806264, POLR1A (MED14-independent group 3 enhancer GRCh37_chr2:86296595-86297794| RNA polymerase I subunit A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Acrofacial dysostosis Cincinnati type
AGCCCACTGCAGGACACAATGTAAGCATGAAGTCTCCTATGGCTTTGCACCGTATTCAATCAAAATCAAGCACAGCACATTCAAGGTCACTGGTCTGAGGACTTCAGAGCACCTCAACTCCCCACATAGCTAATGCCTCAGGTCACTCTGCCAGCAAAAAACCATCTGCTGCTCCCCGGTAGTGTCCCCTCTGGTGAAATATGACTCGGCTGCTATAGAGTCAGAGACCCACACAGTTCTGGCAGCCACTTCCTGTCACCTGCCTTCCCTTAGTCCCAGCCTTGGCTGTCGAGTGGGGCTAAGAACACGCACAGCCAAGCACATGGGCGGGGGGGGGGGGCGGGTGTCGTCCAAAGCTGCTGGGTTCAAGTCTTGGCCTCATTGCTGGCTGACATATTACTCACTTGGTGTTTCCTTGTCTGAAAATCACACCAACCTCATAAGGAAGGGAATGTCTGCAAACTGCTTACAGCAGTGCCTAAGGCCTGTGACCCACTTAATAAATGGCAGCTTTTACTGCCACCACCACAGAGCCACATTATTATTTAAATGAAAACATAAAAAGCCACTTTTCAAATTAGCAAATGTATTTTTTTTAATTTCCAAGTAATCTGGGTAGGCCCTTCACCACTTCTTCCTACATTTAGTCCCTTTGCTAATCCACAGCCAACAAAGGTGGGCAGAGAAGGGAAAGGCCAACTCAAACAACCGGGACCCTTGTGAAGCCACAGTGGTGCATCTGGTGGGAAAAGGGTCCGGGATGCCGGGCTCCTGGCCACCTGCCTGATTCCTTCGTGGCAGACGGCTGATGGGAATAGAGAAGCTCCAAGGAGCAGAGGATGCTGATTGACACTAGGCATCTCTGAGCAGCCCCTGGCACTCCCTGTGCACAGAGGTCTCCATCTCTGTGGTAGCACAAACCCTAGGAAGATCCAGGAACTCCTTGTCCTTCCTGCTGCTTCTCAGCTGAGTGTCCTTGGACAAGTTACACGAATCCTTCAAGTGTAAAATGTGGACATGAATAGCACCTACCTCCAAGGACTGTGGGGAGGGTGAAATGAGGAGCCTCTAAAGTGCTCTCTGCACAGTGTATGGCACTGAAAAAGTACTTGGGAAATGGGAGCCTTGGTTTGACGTTACGATTATTCTTCATACTCCACCACAATCCAAATGAATGATGTATAACTATGAATCATTGTGGCGCAAATGGCTTATAATTTAGGAGGACTCAGACCTTTGGGTGGGTGGTGAGGGTGAAGGAGGCACTGGAACACACTCTGTCTTCTTTCCTGCAGCCTGCCTCTTTCCCCGCTCTGTCCCTCCCATGAGCACATGCTAACTCAGGCCCCTGCCACTCCTGGCCAAGAGTCAGCTGCTAAGGAGACGGGGGAGGAAGTTCTATCCTTCCCTCGTGTCCCTCTGGACAGCTGTGACCACAAGGGGTTGCCCTTGAGGAGTGAACTTGGAGAAAGAAGGAAAGGATTCAAAGGGGACAGAAGATGCCTTCACGGGCTGCTGCGGGATCTCTTCTGGGCCCTTGGGGTTAGGCTGCTTCTTAAAACTCATGTTTGTCAGAACAAAGGATCAAAGTCATCAGTGGACCATGAGAACCATTACAGTGTTGGGATGCTAATGCTAGCCGGGGGCTACTAAGTTGCAGAATCCAAATTTAAGTGCTGAACACAAGACCTATCACACAGTTATTAAGGTTGGCTTTCTGGGATGGCTATCACAATTTCTGTCCTGATTTACATTTTACAACGCAGCAAAACAGAAACATTTCCCAGCCTCTAAGCCACTAGATGGGCTAAAAGCCCCACCTGGGAGAAACCAGGACCCTCCATTCCAGGCGCCCCTGTCCTGGAGCTGCCCAATGACCCCAGGGGCTGGCAGGGCCCAACTTAAAAGTGCTAAGTCATGCTGACGATGACCACGGAACAGCCTCAAGGCCAGACCTACCTTGGGAACAAGGTACTGCTGATCAGTGCAGGCCAGGACGTAGGCCTCGGCCCGGCCCAGCTCACTCTGGGGGAAATGGGCATTCATCTCGTCTCCATCAAAGTCGGCATTATAGGCCTTGCAGTTGGCATAGTGGAGCCGCAGCACTTTCTCTTCAGGCAGGATGCGGGCACGGTGGGCCTGGATGGAGGGTCTGTGCAGTGTGGGCTGTCGGTTCAGTAGCAGAATGTCCCCATTCTTCACATGCCGGCACACCTGGGAACAGAGTGGACAGGTGGGTGATCAGTGCAAACGTCAGTATCACCACGGCTCTTTCCAAGTGCTCACCTCAGCTTGACCAAGGTGTGGCTTTTGTCTCACGTTCTAGTTAACTAAATGCAAGGGGAATTTTTCATCTGGAGCAAAACCCTGGAAATCTCTGAGAAATACGTCCTAGGCCCTTCTGGTCCTGGCCCTTTACAACCCTGATCCTGGCTCTAGGCTCAGAAGTATAAGGAACAAATAAGACCACAGGTCTTTGTCTTCTTCAGAGATGCATAGCCGTCCCAGGTTTCTGGATTACTCTGAAAACTAATCCAAAGAAAGAAATGGATACAACTCCTGAAGATATAACCATAACAAAATGAAGACATAACCATAAAACCACTGGGTTTGAAAGGCATTGGCAGACTTTCGAATCCCCCCCCCGCCGTGATCACATGTGAGTACATTATTCTAAACAGAAATTCTACATTTCACAAAAAGTTTGCCCAGCTTCATATAGCAGAGCCAGAAAAGGGTTCTTAGTTAGTTCAATGCCCTCAGAGAACACTTTATTGCACTTCAAAAATTAAGAGCTGTAAATTGTCATAGTCTTTTGGGAACAGAGTTTGAAAATAGCAATTAAAACACTTAAAACACATTTTCTGTTGGCTCTTCAAGAAAAAAAAAAGCACCCACACAAGGTTAGATGAGTATGTATGTTTGTGTAGCAGCATTTACAGCGGCAAAAACTAGAAATAACCTGACTGCCCCATAGAAGGGGCAATAGTGTATCCACACTATGGAATATTATGCAGTGATGAACAAGGATAAGGTAAATGTATACAAGGCCTAAAGTGATAGCAATAATGTATTACAGCAAAGAAAAAAAAAACCCAGGTGGCATGTGACATGATGAAAAAAAAAAACAATTTAAAAACCAACCCAGCTTCTCTCTCTCTCCGTGTGCATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTATGGGAAAGGGGTGGTTGGATCCTCACTAGGCTGTACTATTTTTCTGAGACAGGGTCTCTCTCTGTTGCCAGGCTGGAGTATAGTGGTACAATCATGGCTCACTGCAGCTTCAACCTTCTAGCCTCAAACGATCTTCCCGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACCACACTCAGCTACTTTCCTACATCTTAGCATCGTTCTTCCTATAATGAGTATGTGATGCTTCTGTAAATTTTAAAAAAGGTCTTCACTTATTTTTAAAGAAAGAAATATTGAACAAGTGCTATGCTCATTGCTAGAGGGAAAACAGAAAATACAATTTAAAGATAAGAATTTAAAAATCACAAGTAATTGTACCCCTCTAAGATAACCACTGCTCATACTTTTCCCCCCTTATAAATATCTGGCTGGTCATGTCCTTCTGACAGACATCTCTCTCACAAAGCTGACTTTCCTGTACCGCCTATTAAGACACTTACCACCCTTATCTTTAATTATATTAACTACTGGGCCTCCTAAACACTGAACATAAAGTGACACCTTAAAAGACAAATGTATGAAGGTAACTGCCACCCCATGCATCCTGAAGGGCTCCTCTAAGTAGTACAAAGGAATTATGAAGACTTGGTGAAATCTCTGCCACCCCAAATCTCCTCTAAATCACAACAGATAGCAGGCAGGAGAAAACAACAAATTATTGGAAGTCTAGTTTCTTCTTATGTTGCCCACATTTATGAAACTGCATTAGAAAGTTCATTAAAGAGAGAGGCTAGAAGTAATTAAGAGATACTCCCCAAAACTCTCTCCCCGATTCCTGTTCAGTGAGGTTAAAAGTTTTCTCTCTCTAGCTCAGAGAAGCAGGGAGCAAAACCCT
AGCCCACTGCAGGACACAATGTAAGCATGAAGTCTCCTATGGCTTTGCACCGTATTCAATCAAAATCAAGCACAGCACATTCAAGGTCACTGGTCTGAGGACTTCAGAGCACCTCAACTCCCCACATAGCTAATGCCTCAGGTCACTCTGCCAGCAAAAAACCATCTGCTGCTCCCCGGTAGTGTCCCCTCTGGTGAAATATGACTCGGCTGCTATAGAGTCAGAGACCCACACAGTTCTGGCAGCCACTTCCTGTCACCTGCCTTCCCTTAGTCCCAGCCTTGGCTGTCGAGTGGGGCTAAGAACACGCACAGCCAAGCACATGGGCGGGGGGGGGGGGCGGGTGTCGTCCAAAGCTGCTGGGTTCAAGTCTTGGCCTCATTGCTGGCTGACATATTACTCACTTGGTGTTTCCTTGTCTGAAAATCACACCAACCTCATAAGGAAGGGAATGTCTGCAAACTGCTTACAGCAGTGCCTAAGGCCTGTGACCCACTTAATAAATGGCAGCTTTTACTGCCACCACCACAGAGCCACATTATTATTTAAATGAAAACATAAAAAGCCACTTTTCAAATTAGCAAATGTATTTTTTTTAATTTCCAAGTAATCTGGGTAGGCCCTTCACCACTTCTTCCTACATTTAGTCCCTTTGCTAATCCACAGCCAACAAAGGTGGGCAGAGAAGGGAAAGGCCAACTCAAACAACCGGGACCCTTGTGAAGCCACAGTGGTGCATCTGGTGGGAAAAGGGTCCGGGATGCCGGGCTCCTGGCCACCTGCCTGATTCCTTCGTGGCAGACGGCTGATGGGAATAGAGAAGCTCCAAGGAGCAGAGGATGCTGATTGACACTAGGCATCTCTGAGCAGCCCCTGGCACTCCCTGTGCACAGAGGTCTCCATCTCTGTGGTAGCACAAACCCTAGGAAGATCCAGGAACTCCTTGTCCTTCCTGCTGCTTCTCAGCTGAGTGTCCTTGGACAAGTTACACGAATCCTTCAAGTGTAAAATGTGGACATGAATAGCACCTACCTCCAAGGACTGTGGGGAGGGTGAAATGAGGAGCCTCTAAAGTGCTCTCTGCACAGTGTATGGCACTGAAAAAGTACTTGGGAAATGGGAGCCTTGGTTTGACGTTACGATTATTCTTCATACTCCACCACAATCCAAATGAATGATGTATAACTATGAATCATTGTGGCGCAAATGGCTTATAATTTAGGAGGACTCAGACCTTTGGGTGGGTGGTGAGGGTGAAGGAGGCACTGGAACACACTCTGTCTTCTTTCCTGCAGCCTGCCTCTTTCCCCGCTCTGTCCCTCCCATGAGCACATGCTAACTCAGGCCCCTGCCACTCCTGGCCAAGAGTCAGCTGCTAAGGAGACGGGGGAGGAAGTTCTATCCTTCCCTCGTGTCCCTCTGGACAGCTGTGACCACAAGGGGTTGCCCTTGAGGAGTGAACTTGGAGAAAGAAGGAAAGGATTCAAAGGGGACAGAAGATGCCTTCACGGGCTGCTGCGGGATCTCTTCTGGGCCCTTGGGGTTAGGCTGCTTCTTAAAACTCATGTTTGTCAGAACAAAGGATCAAAGTCATCAGTGGACCATGAGAACCATTACAGTGTTGGGATGCTAATGCTAGCCGGGGGCTACTAAGTTGCAGAATCCAAATTTAAGTGCTGAACACAAGACCTATCACACAGTTATTAAGGTTGGCTTTCTGGGATGGCTATCACAATTTCTGTCCTGATTTACATTTTACAACGCAGCAAAACAGAAACATTTCCCAGCCTCTAAGCCACTAGATGGGCTAAAAGCCCCACCTGGGAGAAACCAGGACCCTCCATTCCAGGCGCCCCTGTCCTGGAGCTGCCCAATGACCCCAGGGGCTGGCAGGGCCCAACTTAAAAGTGCTAAGTCATGCTGACGATGACCACGGAACAGCCTCAAGGCCAGACCTACCTTGGGAACAAGGTACTGCTGATCAGTGCAGGCCAGGACGTAGGCCTCGGCCCGGCCCAGCTCACTCTGGGGGAAATGGGCATTCATCTGGTCTCCATCAAAGTCGGCATTATAGGCCTTGCAGTTGGCATAGTGGAGCCGCAGCACTTTCTCTTCAGGCAGGATGCGGGCACGGTGGGCCTGGATGGAGGGTCTGTGCAGTGTGGGCTGTCGGTTCAGTAGCAGAATGTCCCCATTCTTCACATGCCGGCACACCTGGGAACAGAGTGGACAGGTGGGTGATCAGTGCAAACGTCAGTATCACCACGGCTCTTTCCAAGTGCTCACCTCAGCTTGACCAAGGTGTGGCTTTTGTCTCACGTTCTAGTTAACTAAATGCAAGGGGAATTTTTCATCTGGAGCAAAACCCTGGAAATCTCTGAGAAATACGTCCTAGGCCCTTCTGGTCCTGGCCCTTTACAACCCTGATCCTGGCTCTAGGCTCAGAAGTATAAGGAACAAATAAGACCACAGGTCTTTGTCTTCTTCAGAGATGCATAGCCGTCCCAGGTTTCTGGATTACTCTGAAAACTAATCCAAAGAAAGAAATGGATACAACTCCTGAAGATATAACCATAACAAAATGAAGACATAACCATAAAACCACTGGGTTTGAAAGGCATTGGCAGACTTTCGAATCCCCCCCCCGCCGTGATCACATGTGAGTACATTATTCTAAACAGAAATTCTACATTTCACAAAAAGTTTGCCCAGCTTCATATAGCAGAGCCAGAAAAGGGTTCTTAGTTAGTTCAATGCCCTCAGAGAACACTTTATTGCACTTCAAAAATTAAGAGCTGTAAATTGTCATAGTCTTTTGGGAACAGAGTTTGAAAATAGCAATTAAAACACTTAAAACACATTTTCTGTTGGCTCTTCAAGAAAAAAAAAAGCACCCACACAAGGTTAGATGAGTATGTATGTTTGTGTAGCAGCATTTACAGCGGCAAAAACTAGAAATAACCTGACTGCCCCATAGAAGGGGCAATAGTGTATCCACACTATGGAATATTATGCAGTGATGAACAAGGATAAGGTAAATGTATACAAGGCCTAAAGTGATAGCAATAATGTATTACAGCAAAGAAAAAAAAAACCCAGGTGGCATGTGACATGATGAAAAAAAAAAACAATTTAAAAACCAACCCAGCTTCTCTCTCTCTCCGTGTGCATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTATGGGAAAGGGGTGGTTGGATCCTCACTAGGCTGTACTATTTTTCTGAGACAGGGTCTCTCTCTGTTGCCAGGCTGGAGTATAGTGGTACAATCATGGCTCACTGCAGCTTCAACCTTCTAGCCTCAAACGATCTTCCCGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACCACACTCAGCTACTTTCCTACATCTTAGCATCGTTCTTCCTATAATGAGTATGTGATGCTTCTGTAAATTTTAAAAAAGGTCTTCACTTATTTTTAAAGAAAGAAATATTGAACAAGTGCTATGCTCATTGCTAGAGGGAAAACAGAAAATACAATTTAAAGATAAGAATTTAAAAATCACAAGTAATTGTACCCCTCTAAGATAACCACTGCTCATACTTTTCCCCCCTTATAAATATCTGGCTGGTCATGTCCTTCTGACAGACATCTCTCTCACAAAGCTGACTTTCCTGTACCGCCTATTAAGACACTTACCACCCTTATCTTTAATTATATTAACTACTGGGCCTCCTAAACACTGAACATAAAGTGACACCTTAAAAGACAAATGTATGAAGGTAACTGCCACCCCATGCATCCTGAAGGGCTCCTCTAAGTAGTACAAAGGAATTATGAAGACTTGGTGAAATCTCTGCCACCCCAAATCTCCTCTAAATCACAACAGATAGCAGGCAGGAGAAAACAACAAATTATTGGAAGTCTAGTTTCTTCTTATGTTGCCCACATTTATGAAACTGCATTAGAAAGTTCATTAAAGAGAGAGGCTAGAAGTAATTAAGAGATACTCCCCAAAACTCTCTCCCCGATTCCTGTTCAGTGAGGTTAAAAGTTTTCTCTCTCTAGCTCAGAGAAGCAGGGAGCAAAACCCT
Task1_train_3810
Given this variant in gene REEP1 (receptor accessory protein 1) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Hereditary spastic paraplegia 31
ATTTAATTCTAAAATCAAATATCACCCCATTTGTATATCGATGGGAGGGATTACAAAGCTGAAAGAAATGAGTATTACTGGATAAGGGAGATTGTTTTACACATATTCAAATAAAATCAGAAATTAGAAGTCATCCAGTGTCATGCAACAAGGTAAAGGTGAGATGGAAAACAGGATTGAGGTCTTCTTCAGGGACCAAAGCCAAGTACAATATTGGTTTAGTTCAAATTTGGATTAACTTTGGTGTATTATTTTTGTTTGTTTGGGAGTGTTTTGTTGTTGTCATTGTTTTAAGAAAATGGCTGTTTGTCGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGTATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCCTCTAAAAATACAAAATGAGTCAGGCATGGTGGCACGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATTGCTGGAGCCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCCGCGCCCCCCACCCCCCAAAAAAAGGCTGTTTTTCATGACAGCTGCTCATTTCAGAGTTCGGTAAGACAATGACATTTGGCCTTAGTCAAGTTCTGTGCATTAGTGTATTTCCATTGCTTTGAGGTGTGCAAGTGGGTCAGCAACCTCCTGCTGGATTCCCTGTGGAAGGCTTCCCCAGGAAGTCATAGCAGCAGGCCCTCTAACTGTGACCTGCCTGTCCCCCACCACCACCCCTTTGGAAGTGATTCTTGGCAACTCTTAAGAGTCAGTCACCTTCACTTCAATGGAAGTTACATTGGCAGCTTCAGGGGAAGCCCAGCATTTGGGGAAAGGGAAGTAAGACGAGTAGGGATTTGATAACCAGGTCAAGACAGGGATCCGTTCCTCAAAATCCACCCTTCTGAGACAGGAAGTGCTGCGGTCCGAGTTCCTAAAGAGATTTTCCGAAACTTGTACAGTAGCCTGCTCATCCAACGGATATGTTTCCCAAAGCCTTCCCCTTTCTAGTCCAAGGAATTCAACTTTCAGAAACAATAGACATTAATCTGTCAAGCCACCTATAATGCTCCTATTTTAGTTAAGAAACCCCACTACACAATCAGCTTAGTAAGTAATACAGTTAACGAATGATACAATGTTGGAATCGTTTGACTTAATAATCCTGCTCTTGGGAATTAATTCTAAGACAATTAAAGGAAGCAACTAAACTCCAGGAATGGTAGTGCTCACTGCAGAACTATCTATATCAGGAAAAGGTAGAGATAATCTAAATATCTAGCAGTAAGGGAACATCATCATGGGTATTACGAAGACCAAGTAGAAATGGATTTGTGTGCAAACACATTTAAAATCTCAGGATACAAACATTTTATTTAAGTTTTTAAATCATTTTTTTAAAAAAATTCTACATAAAATTTTAATCTTTCTTTCTTTTTTTAAGAGATGGGGACTCTCTAGGTTGCCCAGGCTGGCTTTGAACTTCTGGGCTCAAGTGATTCTCCCACCTTATACCCCTGAGTAGCTGGAATTACAGGCATGCACCACCACACCTGGCTTCCAGGTAAGATTTAAAATAGTCTATGTAAAAATCATGTCTATAAAAGGACAGGGGCTAAGCATGACAAAAGGAAGGAAATTCACTTTGCGTGGTTAAATTGAGTGAATTTTTTCTTTCTTTTGTTTCAATTTATGGAAATGTTTTCCAGTAAATAATGACAAATAACATCTTTTAGAGAACTTCACCACTATTTCTAAACACGTCTCAGAAATACACTTAAAAAAAACGATTAGGAGGAATGACTTGCTGGAGGCAAATGAGAGCCAAATGAGAAGTCTCCTGCAATAAGATCATCCCTTTTTATTTATTACTTATTTTCTCACTTGCTAGAAAGAATGAAAGACATGGCAGCATATATTACCTTTTCTTTTGAAGATAGCGTGGGATGTACAAACTTCCTGTACAGGAGGCTGGAGCCTTTTGTGTAGGGAGACAGCAGCCAGGCTACAAATGCTATTTTTAGTTCATAATAGAATGGAAACCTGGAGAGAGAGATGAAAACACAAGTTCTGTTAGGTTCTCAGCAACACTGCCCTTTTGAAGGATGAGACCCGGTGGGTGGCAAGGACGCCTCTCCTGCTTGCATGTGGCTGCAAGTTTCCCAGATTCCTCTGTCCTCCACCTATGAAGGTGAGGGCACACACTTGCACACACACAGTACAACCCCAACGCCTCTCTTTGAAAACCAGTTCGTGTTTTCTTTTGTTGCCAAAGCAAACCAGGAACACAGGTTCTCTCCAGCAATCACCCCCGTGGCCCTGCCTGGCACAGGCTGGAGCTTCCTGCTGGGCTGTGCTCATTTAGATTGGAGCTAGGGTTCTGGCCACAGCCTACAGGCTCAGAGGATCTCTTCTACGCTGTACACCCAGTCACTCACTCTTCACTCACATCCAAGAAGGGACAAACACCAGGGGGAATTACAGCAGGGAAGAGTTGACAAAAAAATCTCTAGACTGAGAATGAAAGCCTCTCTTTCTTGGCTGCCTTCTTGGCCCAAACAGAGGCAGGGACAAGAGCCCAGCTCTTGGCAGGAAGGAGAATGCTACTCACCCTACTCAAGTCAATGGCAGGCAAACAGATTTTGATCTTCTTAGTGCCAAGAAACAGAAGAGTCCACGGTGCAGATAGCACATAATTCTGGAGTTTGCAGTCCTGCATACCCTCAAGCCTGTTCATTTATTTGTCCCCCCACAGGCAGGCACCCAGTCCCTGTACGTGCCAGCTTGTACTGAGCACCAGGTATAAGGAGGTACAGGGAGGCAACGGTGAGCAAAGAAGACCTGATTCCTGCCCTCATGGAGCTTCTGGTCCACTGGGAACACAGACAAGATTCTGGCATCCTTGGAACTAAGGGTCCAGTCAGGGAAACAGAGATTTATAAAATAATCACAAATAATATAGAACAGAAACCTGAGACAAGTGCCATAGTGCTAGCCCACGTGGTGCCTTTGAATGTATTAGAAGAAAACTGGCCTCTTCAACTGGAAGCAGTTCTGTGGCCACATACCACAGAGCTTGGTCTGAATTTCAGCCCCATTCACCTGCTTGGCCAGATATCTTGTGCTGTGAACAACCCGAGCAACCATATTTGGCAGTCCAGAGGTGTAGTAACCATGTGTTTATGGTTTATTTTTGATTTTCTGTATTCTGATGTACTTTGGGGCCTTGCTTACTCTGGAGGAACTGCCCCTCCCACAAGGTGAGCCAATTGCTAGAGATAGTAAAGAACTCACTGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGAAGAGGTGGGTGGATCACAAGGTCAGGGGTTCGAGACCAGCCTGACCAATATGGTGAAACTCCGTCTCTACTAAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATTGCTCGAACCCAGGAGTTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCGACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAAAAAAAGAACTTCACCTGCAACACACCTTTCATATGCAAACCAACCAATCCATGGGCCCAGGCTCCAGCCACTGCCTCTGATGGACTCTCACATTCCAGGCCACCATCCACCTGCCCCAATCATCCCAGGGCCAGGGCTAGACAACCAGAGATAGCCCCATATACCCCAGAGCCTACTGAGATTATTCAAACCAGCCAAGCCCAAGCCTGCCCACCCTGCTTTGCCCTTTCCTTCCTTTAATGTGGAACATGTTAAAGGCCCTCACCCCAGTTTCTCCCTCTTCTCCTGACGGACCCTGAGTGGCCCCCAACATGGCTCTGCATGGTGTGCTGTGCCTCTGTTTCTAGGAATCTGTGAGCAAAGAAACTTCTCCCTTCGTGACAATTATTTCCATGTCTATGTCTTACCCACACTCGCTTAAAA
ATTTAATTCTAAAATCAAATATCACCCCATTTGTATATCGATGGGAGGGATTACAAAGCTGAAAGAAATGAGTATTACTGGATAAGGGAGATTGTTTTACACATATTCAAATAAAATCAGAAATTAGAAGTCATCCAGTGTCATGCAACAAGGTAAAGGTGAGATGGAAAACAGGATTGAGGTCTTCTTCAGGGACCAAAGCCAAGTACAATATTGGTTTAGTTCAAATTTGGATTAACTTTGGTGTATTATTTTTGTTTGTTTGGGAGTGTTTTGTTGTTGTCATTGTTTTAAGAAAATGGCTGTTTGTCGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGTATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCCTCTAAAAATACAAAATGAGTCAGGCATGGTGGCACGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATTGCTGGAGCCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCCGCGCCCCCCACCCCCCAAAAAAAGGCTGTTTTTCATGACAGCTGCTCATTTCAGAGTTCGGTAAGACAATGACATTTGGCCTTAGTCAAGTTCTGTGCATTAGTGTATTTCCATTGCTTTGAGGTGTGCAAGTGGGTCAGCAACCTCCTGCTGGATTCCCTGTGGAAGGCTTCCCCAGGAAGTCATAGCAGCAGGCCCTCTAACTGTGACCTGCCTGTCCCCCACCACCACCCCTTTGGAAGTGATTCTTGGCAACTCTTAAGAGTCAGTCACCTTCACTTCAATGGAAGTTACATTGGCAGCTTCAGGGGAAGCCCAGCATTTGGGGAAAGGGAAGTAAGACGAGTAGGGATTTGATAACCAGGTCAAGACAGGGATCCGTTCCTCAAAATCCACCCTTCTGAGACAGGAAGTGCTGCGGTCCGAGTTCCTAAAGAGATTTTCCGAAACTTGTACAGTAGCCTGCTCATCCAACGGATATGTTTCCCAAAGCCTTCCCCTTTCTAGTCCAAGGAATTCAACTTTCAGAAACAATAGACATTAATCTGTCAAGCCACCTATAATGCTCCTATTTTAGTTAAGAAACCCCACTACACAATCAGCTTAGTAAGTAATACAGTTAACGAATGATACAATGTTGGAATCGTTTGACTTAATAATCCTGCTCTTGGGAATTAATTCTAAGACAATTAAAGGAAGCAACTAAACTCCAGGAATGGTAGTGCTCACTGCAGAACTATCTATATCAGGAAAAGGTAGAGATAATCTAAATATCTAGCAGTAAGGGAACATCATCATGGGTATTACGAAGACCAAGTAGAAATGGATTTGTGTGCAAACACATTTAAAATCTCAGGATACAAACATTTTATTTAAGTTTTTAAATCATTTTTTTAAAAAAATTCTACATAAAATTTTAATCTTTCTTTCTTTTTTTAAGAGATGGGGACTCTCTAGGTTGCCCAGGCTGGCTTTGAACTTCTGGGCTCAAGTGATTCTCCCACCTTATACCCCTGAGTAGCTGGAATTACAGGCATGCACCACCACACCTGGCTTCCAGGTAAGATTTAAAATAGTCTATGTAAAAATCATGTCTATAAAAGGACAGGGGCTAAGCATGACAAAAGGAAGGAAATTCACTTTGCGTGGTTAAATTGAGTGAATTTTTTCTTTCTTTTGTTTCAATTTATGGAAATGTTTTCCAGTAAATAATGACAAATAACATCTTTTAGAGAACTTCACCACTATTTCTAAACACGTCTCAGAAATACACTTAAAAAAAACGATTAGGAGGAATGACTTGCTGGAGGCAAATGAGAGCCAAATGAGAAGTCTCCTGCAATAAGATCATCCCTTTTTATTTATTACTTATTTTCTCACTTGCTAGAAAGAATGAAAGACATGGCAGCATATATTACCTTTTCTTTTGAAGATAGCGTGGGATGTACAAACTTCCTGTACCGGAGGCTGGAGCCTTTTGTGTAGGGAGACAGCAGCCAGGCTACAAATGCTATTTTTAGTTCATAATAGAATGGAAACCTGGAGAGAGAGATGAAAACACAAGTTCTGTTAGGTTCTCAGCAACACTGCCCTTTTGAAGGATGAGACCCGGTGGGTGGCAAGGACGCCTCTCCTGCTTGCATGTGGCTGCAAGTTTCCCAGATTCCTCTGTCCTCCACCTATGAAGGTGAGGGCACACACTTGCACACACACAGTACAACCCCAACGCCTCTCTTTGAAAACCAGTTCGTGTTTTCTTTTGTTGCCAAAGCAAACCAGGAACACAGGTTCTCTCCAGCAATCACCCCCGTGGCCCTGCCTGGCACAGGCTGGAGCTTCCTGCTGGGCTGTGCTCATTTAGATTGGAGCTAGGGTTCTGGCCACAGCCTACAGGCTCAGAGGATCTCTTCTACGCTGTACACCCAGTCACTCACTCTTCACTCACATCCAAGAAGGGACAAACACCAGGGGGAATTACAGCAGGGAAGAGTTGACAAAAAAATCTCTAGACTGAGAATGAAAGCCTCTCTTTCTTGGCTGCCTTCTTGGCCCAAACAGAGGCAGGGACAAGAGCCCAGCTCTTGGCAGGAAGGAGAATGCTACTCACCCTACTCAAGTCAATGGCAGGCAAACAGATTTTGATCTTCTTAGTGCCAAGAAACAGAAGAGTCCACGGTGCAGATAGCACATAATTCTGGAGTTTGCAGTCCTGCATACCCTCAAGCCTGTTCATTTATTTGTCCCCCCACAGGCAGGCACCCAGTCCCTGTACGTGCCAGCTTGTACTGAGCACCAGGTATAAGGAGGTACAGGGAGGCAACGGTGAGCAAAGAAGACCTGATTCCTGCCCTCATGGAGCTTCTGGTCCACTGGGAACACAGACAAGATTCTGGCATCCTTGGAACTAAGGGTCCAGTCAGGGAAACAGAGATTTATAAAATAATCACAAATAATATAGAACAGAAACCTGAGACAAGTGCCATAGTGCTAGCCCACGTGGTGCCTTTGAATGTATTAGAAGAAAACTGGCCTCTTCAACTGGAAGCAGTTCTGTGGCCACATACCACAGAGCTTGGTCTGAATTTCAGCCCCATTCACCTGCTTGGCCAGATATCTTGTGCTGTGAACAACCCGAGCAACCATATTTGGCAGTCCAGAGGTGTAGTAACCATGTGTTTATGGTTTATTTTTGATTTTCTGTATTCTGATGTACTTTGGGGCCTTGCTTACTCTGGAGGAACTGCCCCTCCCACAAGGTGAGCCAATTGCTAGAGATAGTAAAGAACTCACTGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGAAGAGGTGGGTGGATCACAAGGTCAGGGGTTCGAGACCAGCCTGACCAATATGGTGAAACTCCGTCTCTACTAAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATTGCTCGAACCCAGGAGTTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCGACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAAAAAAAGAACTTCACCTGCAACACACCTTTCATATGCAAACCAACCAATCCATGGGCCCAGGCTCCAGCCACTGCCTCTGATGGACTCTCACATTCCAGGCCACCATCCACCTGCCCCAATCATCCCAGGGCCAGGGCTAGACAACCAGAGATAGCCCCATATACCCCAGAGCCTACTGAGATTATTCAAACCAGCCAAGCCCAAGCCTGCCCACCCTGCTTTGCCCTTTCCTTCCTTTAATGTGGAACATGTTAAAGGCCCTCACCCCAGTTTCTCCCTCTTCTCCTGACGGACCCTGAGTGGCCCCCAACATGGCTCTGCATGGTGTGCTGTGCCTCTGTTTCTAGGAATCTGTGAGCAAAGAAACTTCTCCCTTCGTGACAATTATTTCCATGTCTATGTCTTACCCACACTCGCTTAAAA
Task1_train_3811
A change on Chromosome 2 affects gene REEP1 (receptor accessory protein 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Hereditary spastic paraplegia 31
ATGTTTATGTGTATGCATATCTAAAAGCACAGCACTTGATTCTCTACCTTGTCTATGATGCAAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCCACTATTGTCTTGCGACCCTGACACATCCCCCTCTCGGAGAAACACCCACGAATGATCAATAAATACTAAGGGAACTCAGAAGCTGGCGGGATCCTCCATATGCCGAACGCTGGTTCCCTGGGTCCCCCTATTTTTTTCTCTATACTTTGTCTCTGTGTCTTTTTCTTTTCCAAGTCTCTCGTTCCACCTAACGAGAAACACCCACAGGTGTGGAGAGGCAACCCACCCCTTCATTTCCTGATGCAGCTCTGTACAAAATGGCCTGACTTCCAGGGCCAGCCTCAAGGTCTCGGGGAGACAAGGGATGGCTCAGCAGAGAGCTCTGTCCCACTTAAGGAGACTCAGCTTCATCCAGAGTCTGCTGCACTACCTGTGCACAGTGCAGGGTGCGAAGGCACAAGCATATTGAATTAGGAAATCCATACTCCTTCACTACAGCTTGAGGCTACAATGGCTGGGACATCTACTTCTCTCAGTGGAGGTGAAAGCTATGTTGTGGGGAAAAGTACATGCTAAGATAATTAAGGCCATTGACTCAAAACAGGATTCAGAGAGTGCTATTCAGGTCTATTCCTTGGCCTAGGACGTCCCAGAGGGTAATTTCATACTGATCCTTTTTGGGTAAGAACCTGTTTTCTCCAAAGTGGAAATATCTTGATTACTTTCTCTGATCACACTTCACCATGGTTAAAACATTCGTACAACACAGCAAATGCAAAACCAACCCCATGATCCCAAGTCGTAGAAATAACCCTCGTTAACTATATTTTCCACACTACTTTTAATACACATTCACATGTGCACACACTCAACTCTTTAAATACAAACAGAAATCGATATATTATTTACAGCTTCTTTCGCCTAAGAAGGCACAATACAGCAATACAAAGATCTAGCTTGTTTTTTAATTGCTTCATTGCTGGAAATAGCTGCATTGCTGATAAGAGAAAAATATGGGTATCAACTTAAATGCCCATCAAAAGGGGATGACAAATAAATTATGCTCCATCTATGCCATGAAATATTATGTAGCCATTAAAAATTAGGTAGATGTATTTATGCTCATATAAAAGTATTTCCAAAATAAATTTAATAAGCAAAGTGAGAACTCTCATGTATACTATAATACTGCTTTTAAAAAAAAGAAGTGTGTGTAAAATGTGTGTATACACACACACATATATTAGTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGATGCGATCTTGGCTTACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTATTTTTTTGTATTTTTTTTTAGCAGAGATGGGGTTTCGCCATGTTAGCCAGGCTGGTCTCAAAATCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTAGGCCATATATTAGTTTTTTAAGAGGATACACAACTGTGAGTAGTGATTATGTTGACCATGAATTGAGTGAGAAGGAAACTCAGTTTTTCCTGTGCATTTTTGTGCATTGTTTCTTTTGTTCCTTTACTTTTTTAACGTACGAATGCTTCTTTACCAACTCCATTAATTGAGGATGTGTATCTGTCCTGTCCATGACTATATCCCCAGGGCTTAGAATAATAACTGCTCTTTATAAGGTCATTCAATAAATATTTACTTGAAGAACAACTTTGTGGACTAATCTATTAAAAATGCTCCAGTTAACATCCCTGCTCTTGCGTCTCTGGCCTGAGGTGAGGTTTGAGGCTGGGTTCAGCCCTTTCCCACCTCCCCCTGAGTGACACTAAGCAAAATTGTCCTTAGAAACATCCCAACTCCTGGAGTACTTACCAACAAAGGAAGATGTCTGTGAATGTCTCTGCTGTGGTGAAAAGTGCAAATATAATCCAGTACATCATCCATTTGACCTGTTGAAACAGAAAGCAACACAGCTGGTAGAAAAGGTCCAGGAAAAACACTGCCCAACACCAGGAAGAACAGGCCCCGGCGGCAGATACGGAGGCACGTCCAGGTGGTGCAGCCTGCATTTGTAGCCTTCTCCCTATCCTTCCCCAGCTTATGTCCAGTTCTGCTCCAGATCTTGAAGCTGGAAGCAAATGGGCTGTTCCACAACTGACTCAGGCTGAAGGTCATATGGCCCTAAAGTGAGCCGGGGAGACCTGCGGACCAAGAGTGACCCAGGATTCAATCAGGTCATTTTTCAGAACATCAGGGGAGAAAATGCTCTAGGCCTCTACACAAACACACCCTGGAATGAAGTGTAACTGGGCCACACTCTCTGGGATGGCATGGTAGTAATCTAGGAATTCTGATCTTCCTTTTATCTCTCCCATGTGACCATCCTTTTCAATTTCTACTGCCTTTCTCCCCTAAGGCCTTTGTCCCCTCTCTCTTGAACTACTCCTACTTCCCTTGTTTCCTGACTTTCCCCTCAGCAACCCATCCTAATACCAAGCCACCCCTGTACTATTCTCCCAAAAGTATAAACTCATCAGACTATCACCCCATTTAAAATATCCCAGCCTGCAGAATCAAGTCCAGATTCCTTAGTCTACTCCTTCTGGCTTCTGGCAAAAGTGAGGTAGCTTATATTGAACTAAGGCTCCTACTAATAATGATAATAAACACCAAACAAAATATTTCAAAACAACTGTTTGAAGGCCCTGGAGAGCAATATAAAAAGCAGACAGAGACTGGAAGGGGTTCAAGCTTTGGAGCACGGGAACCACACTGGGTTAGTACAAGTCAGTGCGGCTGAGGACAGTCCTCACTCTGCACATCATGGGGCAGAGAGAACTCAATCTCAAATCCAGAGTCTTATTTGTCCAAAGAAAAGGAGAATGCAGTTTGAGACTGCCAGAGATGCTGGAAGTGGACAGAGAAAAATCTCAGAATTAGGGAAGCCATAAAGGGGCACCCCAAAAATCTACATATAAATTCTCTTCAAAAACTTGGCAGGTCCCTGAAATGCACAGAAGCAGGTAAGACTCCAAGCGAAGAAGTCTGTATAATAATATAGATATAAATACATATAGATATAAATGTAGATATAAACAGCTGGAAAGCTGAAAAGCTCAGAGTTGAGCAGAGATTTAGCTTCTGCCCACTGTTGGGGAAACAAAGTTTGGAATTCAAGTCATGCAAAGTTAGAGGGGTTTGGTAAGCATTTGGAATTTCCAGTGAAACACCTGGAAGACCACATCTTAGCAATAAAAATTACATCCTAACACTAAGAGATTAACTCTATGACTAAGAGCAAAATTTAAATATACCTGCCCAAACAAAACGTATCTAGCTGCCACAGGGTCAAGGTGATCTGCCTGAATTTAACTGCCTGCTAGAACAACACTCAACATTCTTCACAAGAAGGCAAAAAAAAATCTACAACCTAAGTCTATCAATGGATGACTGAATAAAGAAAATGGGGTGTATATACATACATATATATATATGCACAATGGAATACTACCCAACCATAATAAAAAATCATGTCTTTTGCAGCAATATAGATGGAACTGGAGTCCATTATCATAAGTAGAATAACTCAGAAACAGAAAGCCAAATACTGCATGTTCTCACTTATAAATAGGAGCTAAATAATGTGTACACATGGACATAGAGAGTGGAATAATAGACTTTGGAGACTTGAAAAGGTGGGAAGGTAGGAGGGGATGAGGGATGAGAAACTACCGAATGGGTACAATTTAGACTACTTGGGTGATGGTTACACTAAAAGCCCAGACTTCATCACTATGTAATATATCCACGTAACAAACCTGCACTTGTACCCCCTAAAGCTATAAACACAAAAAAATAAGAAAAATGTATAAAATATCTGTGGTTTCCACAATGAATCACACACAAGGTTCTGTATACAATAAAATACTACACGTG
ATGTTTATGTGTATGCATATCTAAAAGCACAGCACTTGATTCTCTACCTTGTCTATGATGCAAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCCACTATTGTCTTGCGACCCTGACACATCCCCCTCTCGGAGAAACACCCACGAATGATCAATAAATACTAAGGGAACTCAGAAGCTGGCGGGATCCTCCATATGCCGAACGCTGGTTCCCTGGGTCCCCCTATTTTTTTCTCTATACTTTGTCTCTGTGTCTTTTTCTTTTCCAAGTCTCTCGTTCCACCTAACGAGAAACACCCACAGGTGTGGAGAGGCAACCCACCCCTTCATTTCCTGATGCAGCTCTGTACAAAATGGCCTGACTTCCAGGGCCAGCCTCAAGGTCTCGGGGAGACAAGGGATGGCTCAGCAGAGAGCTCTGTCCCACTTAAGGAGACTCAGCTTCATCCAGAGTCTGCTGCACTACCTGTGCACAGTGCAGGGTGCGAAGGCACAAGCATATTGAATTAGGAAATCCATACTCCTTCACTACAGCTTGAGGCTACAATGGCTGGGACATCTACTTCTCTCAGTGGAGGTGAAAGCTATGTTGTGGGGAAAAGTACATGCTAAGATAATTAAGGCCATTGACTCAAAACAGGATTCAGAGAGTGCTATTCAGGTCTATTCCTTGGCCTAGGACGTCCCAGAGGGTAATTTCATACTGATCCTTTTTGGGTAAGAACCTGTTTTCTCCAAAGTGGAAATATCTTGATTACTTTCTCTGATCACACTTCACCATGGTTAAAACATTCGTACAACACAGCAAATGCAAAACCAACCCCATGATCCCAAGTCGTAGAAATAACCCTCGTTAACTATATTTTCCACACTACTTTTAATACACATTCACATGTGCACACACTCAACTCTTTAAATACAAACAGAAATCGATATATTATTTACAGCTTCTTTCGCCTAAGAAGGCACAATACAGCAATACAAAGATCTAGCTTGTTTTTTAATTGCTTCATTGCTGGAAATAGCTGCATTGCTGATAAGAGAAAAATATGGGTATCAACTTAAATGCCCATCAAAAGGGGATGACAAATAAATTATGCTCCATCTATGCCATGAAATATTATGTAGCCATTAAAAATTAGGTAGATGTATTTATGCTCATATAAAAGTATTTCCAAAATAAATTTAATAAGCAAAGTGAGAACTCTCATGTATACTATAATACTGCTTTTAAAAAAAAGAAGTGTGTGTAAAATGTGTGTATACACACACACATATATTAGTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGATGCGATCTTGGCTTACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTATTTTTTTGTATTTTTTTTTAGCAGAGATGGGGTTTCGCCATGTTAGCCAGGCTGGTCTCAAAATCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTAGGCCATATATTAGTTTTTTAAGAGGATACACAACTGTGAGTAGTGATTATGTTGACCATGAATTGAGTGAGAAGGAAACTCAGTTTTTCCTGTGCATTTTTGTGCATTGTTTCTTTTGTTCCTTTACTTTTTTAACGTACGAATGCTTCTTTACCAACTCCATTAATTGAGGATGTGTATCTGTCCTGTCCATGACTATATCCCCAGGGCTTAGAATAATAACTGCTCTTTATAAGGTCATTCAATAAATATTTACTTGAAGAACAACTTTGTGGACTAATCTATTAAAAATGCTCCAGTTAACATCCCTGCTCTTGCGTCTCTGGCCTGAGGTGAGGTTTGAGGCTGGGTTCAGCCCTTTCCCACCTCCCCCTGAGTGACACTAAGCAAAATTGTCCTTAGAAACATCCCAACTCCTGGAGTACTTACCAACAAAGGAAGATGTGTGTGAATGTCTCTGCTGTGGTGAAAAGTGCAAATATAATCCAGTACATCATCCATTTGACCTGTTGAAACAGAAAGCAACACAGCTGGTAGAAAAGGTCCAGGAAAAACACTGCCCAACACCAGGAAGAACAGGCCCCGGCGGCAGATACGGAGGCACGTCCAGGTGGTGCAGCCTGCATTTGTAGCCTTCTCCCTATCCTTCCCCAGCTTATGTCCAGTTCTGCTCCAGATCTTGAAGCTGGAAGCAAATGGGCTGTTCCACAACTGACTCAGGCTGAAGGTCATATGGCCCTAAAGTGAGCCGGGGAGACCTGCGGACCAAGAGTGACCCAGGATTCAATCAGGTCATTTTTCAGAACATCAGGGGAGAAAATGCTCTAGGCCTCTACACAAACACACCCTGGAATGAAGTGTAACTGGGCCACACTCTCTGGGATGGCATGGTAGTAATCTAGGAATTCTGATCTTCCTTTTATCTCTCCCATGTGACCATCCTTTTCAATTTCTACTGCCTTTCTCCCCTAAGGCCTTTGTCCCCTCTCTCTTGAACTACTCCTACTTCCCTTGTTTCCTGACTTTCCCCTCAGCAACCCATCCTAATACCAAGCCACCCCTGTACTATTCTCCCAAAAGTATAAACTCATCAGACTATCACCCCATTTAAAATATCCCAGCCTGCAGAATCAAGTCCAGATTCCTTAGTCTACTCCTTCTGGCTTCTGGCAAAAGTGAGGTAGCTTATATTGAACTAAGGCTCCTACTAATAATGATAATAAACACCAAACAAAATATTTCAAAACAACTGTTTGAAGGCCCTGGAGAGCAATATAAAAAGCAGACAGAGACTGGAAGGGGTTCAAGCTTTGGAGCACGGGAACCACACTGGGTTAGTACAAGTCAGTGCGGCTGAGGACAGTCCTCACTCTGCACATCATGGGGCAGAGAGAACTCAATCTCAAATCCAGAGTCTTATTTGTCCAAAGAAAAGGAGAATGCAGTTTGAGACTGCCAGAGATGCTGGAAGTGGACAGAGAAAAATCTCAGAATTAGGGAAGCCATAAAGGGGCACCCCAAAAATCTACATATAAATTCTCTTCAAAAACTTGGCAGGTCCCTGAAATGCACAGAAGCAGGTAAGACTCCAAGCGAAGAAGTCTGTATAATAATATAGATATAAATACATATAGATATAAATGTAGATATAAACAGCTGGAAAGCTGAAAAGCTCAGAGTTGAGCAGAGATTTAGCTTCTGCCCACTGTTGGGGAAACAAAGTTTGGAATTCAAGTCATGCAAAGTTAGAGGGGTTTGGTAAGCATTTGGAATTTCCAGTGAAACACCTGGAAGACCACATCTTAGCAATAAAAATTACATCCTAACACTAAGAGATTAACTCTATGACTAAGAGCAAAATTTAAATATACCTGCCCAAACAAAACGTATCTAGCTGCCACAGGGTCAAGGTGATCTGCCTGAATTTAACTGCCTGCTAGAACAACACTCAACATTCTTCACAAGAAGGCAAAAAAAAATCTACAACCTAAGTCTATCAATGGATGACTGAATAAAGAAAATGGGGTGTATATACATACATATATATATATGCACAATGGAATACTACCCAACCATAATAAAAAATCATGTCTTTTGCAGCAATATAGATGGAACTGGAGTCCATTATCATAAGTAGAATAACTCAGAAACAGAAAGCCAAATACTGCATGTTCTCACTTATAAATAGGAGCTAAATAATGTGTACACATGGACATAGAGAGTGGAATAATAGACTTTGGAGACTTGAAAAGGTGGGAAGGTAGGAGGGGATGAGGGATGAGAAACTACCGAATGGGTACAATTTAGACTACTTGGGTGATGGTTACACTAAAAGCCCAGACTTCATCACTATGTAATATATCCACGTAACAAACCTGCACTTGTACCCCCTAAAGCTATAAACACAAAAAAATAAGAAAAATGTATAAAATATCTGTGGTTTCCACAATGAATCACACACAAGGTTCTGTATACAATAAAATACTACACGTG
Task1_train_3812
This variant affects the gene REEP1 (receptor accessory protein 1) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Hereditary spastic paraplegia 31
TCTACCTTGTCTATGATGCAAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCCACTATTGTCTTGCGACCCTGACACATCCCCCTCTCGGAGAAACACCCACGAATGATCAATAAATACTAAGGGAACTCAGAAGCTGGCGGGATCCTCCATATGCCGAACGCTGGTTCCCTGGGTCCCCCTATTTTTTTCTCTATACTTTGTCTCTGTGTCTTTTTCTTTTCCAAGTCTCTCGTTCCACCTAACGAGAAACACCCACAGGTGTGGAGAGGCAACCCACCCCTTCATTTCCTGATGCAGCTCTGTACAAAATGGCCTGACTTCCAGGGCCAGCCTCAAGGTCTCGGGGAGACAAGGGATGGCTCAGCAGAGAGCTCTGTCCCACTTAAGGAGACTCAGCTTCATCCAGAGTCTGCTGCACTACCTGTGCACAGTGCAGGGTGCGAAGGCACAAGCATATTGAATTAGGAAATCCATACTCCTTCACTACAGCTTGAGGCTACAATGGCTGGGACATCTACTTCTCTCAGTGGAGGTGAAAGCTATGTTGTGGGGAAAAGTACATGCTAAGATAATTAAGGCCATTGACTCAAAACAGGATTCAGAGAGTGCTATTCAGGTCTATTCCTTGGCCTAGGACGTCCCAGAGGGTAATTTCATACTGATCCTTTTTGGGTAAGAACCTGTTTTCTCCAAAGTGGAAATATCTTGATTACTTTCTCTGATCACACTTCACCATGGTTAAAACATTCGTACAACACAGCAAATGCAAAACCAACCCCATGATCCCAAGTCGTAGAAATAACCCTCGTTAACTATATTTTCCACACTACTTTTAATACACATTCACATGTGCACACACTCAACTCTTTAAATACAAACAGAAATCGATATATTATTTACAGCTTCTTTCGCCTAAGAAGGCACAATACAGCAATACAAAGATCTAGCTTGTTTTTTAATTGCTTCATTGCTGGAAATAGCTGCATTGCTGATAAGAGAAAAATATGGGTATCAACTTAAATGCCCATCAAAAGGGGATGACAAATAAATTATGCTCCATCTATGCCATGAAATATTATGTAGCCATTAAAAATTAGGTAGATGTATTTATGCTCATATAAAAGTATTTCCAAAATAAATTTAATAAGCAAAGTGAGAACTCTCATGTATACTATAATACTGCTTTTAAAAAAAAGAAGTGTGTGTAAAATGTGTGTATACACACACACATATATTAGTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGATGCGATCTTGGCTTACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTATTTTTTTGTATTTTTTTTTAGCAGAGATGGGGTTTCGCCATGTTAGCCAGGCTGGTCTCAAAATCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTAGGCCATATATTAGTTTTTTAAGAGGATACACAACTGTGAGTAGTGATTATGTTGACCATGAATTGAGTGAGAAGGAAACTCAGTTTTTCCTGTGCATTTTTGTGCATTGTTTCTTTTGTTCCTTTACTTTTTTAACGTACGAATGCTTCTTTACCAACTCCATTAATTGAGGATGTGTATCTGTCCTGTCCATGACTATATCCCCAGGGCTTAGAATAATAACTGCTCTTTATAAGGTCATTCAATAAATATTTACTTGAAGAACAACTTTGTGGACTAATCTATTAAAAATGCTCCAGTTAACATCCCTGCTCTTGCGTCTCTGGCCTGAGGTGAGGTTTGAGGCTGGGTTCAGCCCTTTCCCACCTCCCCCTGAGTGACACTAAGCAAAATTGTCCTTAGAAACATCCCAACTCCTGGAGTACTTACCAACAAAGGAAGATGTCTGTGAATGTCTCTGCTGTGGTGAAAAGTGCAAATATAATCCAGTACATCATCCATTTGACCTGTTGAAACAGAAAGCAACACAGCTGGTAGAAAAGGTCCAGGAAAAACACTGCCCAACACCAGGAAGAACAGGCCCCGGCGGCAGATACGGAGGCACGTCCAGGTGGTGCAGCCTGCATTTGTAGCCTTCTCCCTATCCTTCCCCAGCTTATGTCCAGTTCTGCTCCAGATCTTGAAGCTGGAAGCAAATGGGCTGTTCCACAACTGACTCAGGCTGAAGGTCATATGGCCCTAAAGTGAGCCGGGGAGACCTGCGGACCAAGAGTGACCCAGGATTCAATCAGGTCATTTTTCAGAACATCAGGGGAGAAAATGCTCTAGGCCTCTACACAAACACACCCTGGAATGAAGTGTAACTGGGCCACACTCTCTGGGATGGCATGGTAGTAATCTAGGAATTCTGATCTTCCTTTTATCTCTCCCATGTGACCATCCTTTTCAATTTCTACTGCCTTTCTCCCCTAAGGCCTTTGTCCCCTCTCTCTTGAACTACTCCTACTTCCCTTGTTTCCTGACTTTCCCCTCAGCAACCCATCCTAATACCAAGCCACCCCTGTACTATTCTCCCAAAAGTATAAACTCATCAGACTATCACCCCATTTAAAATATCCCAGCCTGCAGAATCAAGTCCAGATTCCTTAGTCTACTCCTTCTGGCTTCTGGCAAAAGTGAGGTAGCTTATATTGAACTAAGGCTCCTACTAATAATGATAATAAACACCAAACAAAATATTTCAAAACAACTGTTTGAAGGCCCTGGAGAGCAATATAAAAAGCAGACAGAGACTGGAAGGGGTTCAAGCTTTGGAGCACGGGAACCACACTGGGTTAGTACAAGTCAGTGCGGCTGAGGACAGTCCTCACTCTGCACATCATGGGGCAGAGAGAACTCAATCTCAAATCCAGAGTCTTATTTGTCCAAAGAAAAGGAGAATGCAGTTTGAGACTGCCAGAGATGCTGGAAGTGGACAGAGAAAAATCTCAGAATTAGGGAAGCCATAAAGGGGCACCCCAAAAATCTACATATAAATTCTCTTCAAAAACTTGGCAGGTCCCTGAAATGCACAGAAGCAGGTAAGACTCCAAGCGAAGAAGTCTGTATAATAATATAGATATAAATACATATAGATATAAATGTAGATATAAACAGCTGGAAAGCTGAAAAGCTCAGAGTTGAGCAGAGATTTAGCTTCTGCCCACTGTTGGGGAAACAAAGTTTGGAATTCAAGTCATGCAAAGTTAGAGGGGTTTGGTAAGCATTTGGAATTTCCAGTGAAACACCTGGAAGACCACATCTTAGCAATAAAAATTACATCCTAACACTAAGAGATTAACTCTATGACTAAGAGCAAAATTTAAATATACCTGCCCAAACAAAACGTATCTAGCTGCCACAGGGTCAAGGTGATCTGCCTGAATTTAACTGCCTGCTAGAACAACACTCAACATTCTTCACAAGAAGGCAAAAAAAAATCTACAACCTAAGTCTATCAATGGATGACTGAATAAAGAAAATGGGGTGTATATACATACATATATATATATGCACAATGGAATACTACCCAACCATAATAAAAAATCATGTCTTTTGCAGCAATATAGATGGAACTGGAGTCCATTATCATAAGTAGAATAACTCAGAAACAGAAAGCCAAATACTGCATGTTCTCACTTATAAATAGGAGCTAAATAATGTGTACACATGGACATAGAGAGTGGAATAATAGACTTTGGAGACTTGAAAAGGTGGGAAGGTAGGAGGGGATGAGGGATGAGAAACTACCGAATGGGTACAATTTAGACTACTTGGGTGATGGTTACACTAAAAGCCCAGACTTCATCACTATGTAATATATCCACGTAACAAACCTGCACTTGTACCCCCTAAAGCTATAAACACAAAAAAATAAGAAAAATGTATAAAATATCTGTGGTTTCCACAATGAATCACACACAAGGTTCTGTATACAATAAAATACTACACGTGAGGGAATAGGAAAATATAATCCATGGTTAGGAGAAAAATTGG
TCTACCTTGTCTATGATGCAAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCCACTATTGTCTTGCGACCCTGACACATCCCCCTCTCGGAGAAACACCCACGAATGATCAATAAATACTAAGGGAACTCAGAAGCTGGCGGGATCCTCCATATGCCGAACGCTGGTTCCCTGGGTCCCCCTATTTTTTTCTCTATACTTTGTCTCTGTGTCTTTTTCTTTTCCAAGTCTCTCGTTCCACCTAACGAGAAACACCCACAGGTGTGGAGAGGCAACCCACCCCTTCATTTCCTGATGCAGCTCTGTACAAAATGGCCTGACTTCCAGGGCCAGCCTCAAGGTCTCGGGGAGACAAGGGATGGCTCAGCAGAGAGCTCTGTCCCACTTAAGGAGACTCAGCTTCATCCAGAGTCTGCTGCACTACCTGTGCACAGTGCAGGGTGCGAAGGCACAAGCATATTGAATTAGGAAATCCATACTCCTTCACTACAGCTTGAGGCTACAATGGCTGGGACATCTACTTCTCTCAGTGGAGGTGAAAGCTATGTTGTGGGGAAAAGTACATGCTAAGATAATTAAGGCCATTGACTCAAAACAGGATTCAGAGAGTGCTATTCAGGTCTATTCCTTGGCCTAGGACGTCCCAGAGGGTAATTTCATACTGATCCTTTTTGGGTAAGAACCTGTTTTCTCCAAAGTGGAAATATCTTGATTACTTTCTCTGATCACACTTCACCATGGTTAAAACATTCGTACAACACAGCAAATGCAAAACCAACCCCATGATCCCAAGTCGTAGAAATAACCCTCGTTAACTATATTTTCCACACTACTTTTAATACACATTCACATGTGCACACACTCAACTCTTTAAATACAAACAGAAATCGATATATTATTTACAGCTTCTTTCGCCTAAGAAGGCACAATACAGCAATACAAAGATCTAGCTTGTTTTTTAATTGCTTCATTGCTGGAAATAGCTGCATTGCTGATAAGAGAAAAATATGGGTATCAACTTAAATGCCCATCAAAAGGGGATGACAAATAAATTATGCTCCATCTATGCCATGAAATATTATGTAGCCATTAAAAATTAGGTAGATGTATTTATGCTCATATAAAAGTATTTCCAAAATAAATTTAATAAGCAAAGTGAGAACTCTCATGTATACTATAATACTGCTTTTAAAAAAAAGAAGTGTGTGTAAAATGTGTGTATACACACACACATATATTAGTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGATGCGATCTTGGCTTACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTATTTTTTTGTATTTTTTTTTAGCAGAGATGGGGTTTCGCCATGTTAGCCAGGCTGGTCTCAAAATCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTAGGCCATATATTAGTTTTTTAAGAGGATACACAACTGTGAGTAGTGATTATGTTGACCATGAATTGAGTGAGAAGGAAACTCAGTTTTTCCTGTGCATTTTTGTGCATTGTTTCTTTTGTTCCTTTACTTTTTTAACGTACGAATGCTTCTTTACCAACTCCATTAATTGAGGATGTGTATCTGTCCTGTCCATGACTATATCCCCAGGGCTTAGAATAATAACTGCTCTTTATAAGGTCATTCAATAAATATTTACTTGAAGAACAACTTTGTGGACTAATCTATTAAAAATGCTCCAGTTAACATCCCTGCTCTTGCGTCTCTGGCCTGAGGTGAGGTTTGAGGCTGGGTTCAGCCCTTTCCCACCTCCCCCTGAGTGACACTAAGCAAAATTGTCCTTAGAAACATCCCAACTCCTGGAGTACTTACCAACAAAGGAAGATGTCTGTGAATGTCTCTGCTGTGGTGAAAAGTGCAAATATAATCCGGTACATCATCCATTTGACCTGTTGAAACAGAAAGCAACACAGCTGGTAGAAAAGGTCCAGGAAAAACACTGCCCAACACCAGGAAGAACAGGCCCCGGCGGCAGATACGGAGGCACGTCCAGGTGGTGCAGCCTGCATTTGTAGCCTTCTCCCTATCCTTCCCCAGCTTATGTCCAGTTCTGCTCCAGATCTTGAAGCTGGAAGCAAATGGGCTGTTCCACAACTGACTCAGGCTGAAGGTCATATGGCCCTAAAGTGAGCCGGGGAGACCTGCGGACCAAGAGTGACCCAGGATTCAATCAGGTCATTTTTCAGAACATCAGGGGAGAAAATGCTCTAGGCCTCTACACAAACACACCCTGGAATGAAGTGTAACTGGGCCACACTCTCTGGGATGGCATGGTAGTAATCTAGGAATTCTGATCTTCCTTTTATCTCTCCCATGTGACCATCCTTTTCAATTTCTACTGCCTTTCTCCCCTAAGGCCTTTGTCCCCTCTCTCTTGAACTACTCCTACTTCCCTTGTTTCCTGACTTTCCCCTCAGCAACCCATCCTAATACCAAGCCACCCCTGTACTATTCTCCCAAAAGTATAAACTCATCAGACTATCACCCCATTTAAAATATCCCAGCCTGCAGAATCAAGTCCAGATTCCTTAGTCTACTCCTTCTGGCTTCTGGCAAAAGTGAGGTAGCTTATATTGAACTAAGGCTCCTACTAATAATGATAATAAACACCAAACAAAATATTTCAAAACAACTGTTTGAAGGCCCTGGAGAGCAATATAAAAAGCAGACAGAGACTGGAAGGGGTTCAAGCTTTGGAGCACGGGAACCACACTGGGTTAGTACAAGTCAGTGCGGCTGAGGACAGTCCTCACTCTGCACATCATGGGGCAGAGAGAACTCAATCTCAAATCCAGAGTCTTATTTGTCCAAAGAAAAGGAGAATGCAGTTTGAGACTGCCAGAGATGCTGGAAGTGGACAGAGAAAAATCTCAGAATTAGGGAAGCCATAAAGGGGCACCCCAAAAATCTACATATAAATTCTCTTCAAAAACTTGGCAGGTCCCTGAAATGCACAGAAGCAGGTAAGACTCCAAGCGAAGAAGTCTGTATAATAATATAGATATAAATACATATAGATATAAATGTAGATATAAACAGCTGGAAAGCTGAAAAGCTCAGAGTTGAGCAGAGATTTAGCTTCTGCCCACTGTTGGGGAAACAAAGTTTGGAATTCAAGTCATGCAAAGTTAGAGGGGTTTGGTAAGCATTTGGAATTTCCAGTGAAACACCTGGAAGACCACATCTTAGCAATAAAAATTACATCCTAACACTAAGAGATTAACTCTATGACTAAGAGCAAAATTTAAATATACCTGCCCAAACAAAACGTATCTAGCTGCCACAGGGTCAAGGTGATCTGCCTGAATTTAACTGCCTGCTAGAACAACACTCAACATTCTTCACAAGAAGGCAAAAAAAAATCTACAACCTAAGTCTATCAATGGATGACTGAATAAAGAAAATGGGGTGTATATACATACATATATATATATGCACAATGGAATACTACCCAACCATAATAAAAAATCATGTCTTTTGCAGCAATATAGATGGAACTGGAGTCCATTATCATAAGTAGAATAACTCAGAAACAGAAAGCCAAATACTGCATGTTCTCACTTATAAATAGGAGCTAAATAATGTGTACACATGGACATAGAGAGTGGAATAATAGACTTTGGAGACTTGAAAAGGTGGGAAGGTAGGAGGGGATGAGGGATGAGAAACTACCGAATGGGTACAATTTAGACTACTTGGGTGATGGTTACACTAAAAGCCCAGACTTCATCACTATGTAATATATCCACGTAACAAACCTGCACTTGTACCCCCTAAAGCTATAAACACAAAAAAATAAGAAAAATGTATAAAATATCTGTGGTTTCCACAATGAATCACACACAAGGTTCTGTATACAATAAAATACTACACGTGAGGGAATAGGAAAATATAATCCATGGTTAGGAGAAAAATTGG
Task1_train_3813
An alteration has been detected in REEP1 (receptor accessory protein 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Spinal muscular atrophy, distal, autosomal recessive, 6
TCTACCTTGTCTATGATGCAAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCCACTATTGTCTTGCGACCCTGACACATCCCCCTCTCGGAGAAACACCCACGAATGATCAATAAATACTAAGGGAACTCAGAAGCTGGCGGGATCCTCCATATGCCGAACGCTGGTTCCCTGGGTCCCCCTATTTTTTTCTCTATACTTTGTCTCTGTGTCTTTTTCTTTTCCAAGTCTCTCGTTCCACCTAACGAGAAACACCCACAGGTGTGGAGAGGCAACCCACCCCTTCATTTCCTGATGCAGCTCTGTACAAAATGGCCTGACTTCCAGGGCCAGCCTCAAGGTCTCGGGGAGACAAGGGATGGCTCAGCAGAGAGCTCTGTCCCACTTAAGGAGACTCAGCTTCATCCAGAGTCTGCTGCACTACCTGTGCACAGTGCAGGGTGCGAAGGCACAAGCATATTGAATTAGGAAATCCATACTCCTTCACTACAGCTTGAGGCTACAATGGCTGGGACATCTACTTCTCTCAGTGGAGGTGAAAGCTATGTTGTGGGGAAAAGTACATGCTAAGATAATTAAGGCCATTGACTCAAAACAGGATTCAGAGAGTGCTATTCAGGTCTATTCCTTGGCCTAGGACGTCCCAGAGGGTAATTTCATACTGATCCTTTTTGGGTAAGAACCTGTTTTCTCCAAAGTGGAAATATCTTGATTACTTTCTCTGATCACACTTCACCATGGTTAAAACATTCGTACAACACAGCAAATGCAAAACCAACCCCATGATCCCAAGTCGTAGAAATAACCCTCGTTAACTATATTTTCCACACTACTTTTAATACACATTCACATGTGCACACACTCAACTCTTTAAATACAAACAGAAATCGATATATTATTTACAGCTTCTTTCGCCTAAGAAGGCACAATACAGCAATACAAAGATCTAGCTTGTTTTTTAATTGCTTCATTGCTGGAAATAGCTGCATTGCTGATAAGAGAAAAATATGGGTATCAACTTAAATGCCCATCAAAAGGGGATGACAAATAAATTATGCTCCATCTATGCCATGAAATATTATGTAGCCATTAAAAATTAGGTAGATGTATTTATGCTCATATAAAAGTATTTCCAAAATAAATTTAATAAGCAAAGTGAGAACTCTCATGTATACTATAATACTGCTTTTAAAAAAAAGAAGTGTGTGTAAAATGTGTGTATACACACACACATATATTAGTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGATGCGATCTTGGCTTACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTATTTTTTTGTATTTTTTTTTAGCAGAGATGGGGTTTCGCCATGTTAGCCAGGCTGGTCTCAAAATCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTAGGCCATATATTAGTTTTTTAAGAGGATACACAACTGTGAGTAGTGATTATGTTGACCATGAATTGAGTGAGAAGGAAACTCAGTTTTTCCTGTGCATTTTTGTGCATTGTTTCTTTTGTTCCTTTACTTTTTTAACGTACGAATGCTTCTTTACCAACTCCATTAATTGAGGATGTGTATCTGTCCTGTCCATGACTATATCCCCAGGGCTTAGAATAATAACTGCTCTTTATAAGGTCATTCAATAAATATTTACTTGAAGAACAACTTTGTGGACTAATCTATTAAAAATGCTCCAGTTAACATCCCTGCTCTTGCGTCTCTGGCCTGAGGTGAGGTTTGAGGCTGGGTTCAGCCCTTTCCCACCTCCCCCTGAGTGACACTAAGCAAAATTGTCCTTAGAAACATCCCAACTCCTGGAGTACTTACCAACAAAGGAAGATGTCTGTGAATGTCTCTGCTGTGGTGAAAAGTGCAAATATAATCCAGTACATCATCCATTTGACCTGTTGAAACAGAAAGCAACACAGCTGGTAGAAAAGGTCCAGGAAAAACACTGCCCAACACCAGGAAGAACAGGCCCCGGCGGCAGATACGGAGGCACGTCCAGGTGGTGCAGCCTGCATTTGTAGCCTTCTCCCTATCCTTCCCCAGCTTATGTCCAGTTCTGCTCCAGATCTTGAAGCTGGAAGCAAATGGGCTGTTCCACAACTGACTCAGGCTGAAGGTCATATGGCCCTAAAGTGAGCCGGGGAGACCTGCGGACCAAGAGTGACCCAGGATTCAATCAGGTCATTTTTCAGAACATCAGGGGAGAAAATGCTCTAGGCCTCTACACAAACACACCCTGGAATGAAGTGTAACTGGGCCACACTCTCTGGGATGGCATGGTAGTAATCTAGGAATTCTGATCTTCCTTTTATCTCTCCCATGTGACCATCCTTTTCAATTTCTACTGCCTTTCTCCCCTAAGGCCTTTGTCCCCTCTCTCTTGAACTACTCCTACTTCCCTTGTTTCCTGACTTTCCCCTCAGCAACCCATCCTAATACCAAGCCACCCCTGTACTATTCTCCCAAAAGTATAAACTCATCAGACTATCACCCCATTTAAAATATCCCAGCCTGCAGAATCAAGTCCAGATTCCTTAGTCTACTCCTTCTGGCTTCTGGCAAAAGTGAGGTAGCTTATATTGAACTAAGGCTCCTACTAATAATGATAATAAACACCAAACAAAATATTTCAAAACAACTGTTTGAAGGCCCTGGAGAGCAATATAAAAAGCAGACAGAGACTGGAAGGGGTTCAAGCTTTGGAGCACGGGAACCACACTGGGTTAGTACAAGTCAGTGCGGCTGAGGACAGTCCTCACTCTGCACATCATGGGGCAGAGAGAACTCAATCTCAAATCCAGAGTCTTATTTGTCCAAAGAAAAGGAGAATGCAGTTTGAGACTGCCAGAGATGCTGGAAGTGGACAGAGAAAAATCTCAGAATTAGGGAAGCCATAAAGGGGCACCCCAAAAATCTACATATAAATTCTCTTCAAAAACTTGGCAGGTCCCTGAAATGCACAGAAGCAGGTAAGACTCCAAGCGAAGAAGTCTGTATAATAATATAGATATAAATACATATAGATATAAATGTAGATATAAACAGCTGGAAAGCTGAAAAGCTCAGAGTTGAGCAGAGATTTAGCTTCTGCCCACTGTTGGGGAAACAAAGTTTGGAATTCAAGTCATGCAAAGTTAGAGGGGTTTGGTAAGCATTTGGAATTTCCAGTGAAACACCTGGAAGACCACATCTTAGCAATAAAAATTACATCCTAACACTAAGAGATTAACTCTATGACTAAGAGCAAAATTTAAATATACCTGCCCAAACAAAACGTATCTAGCTGCCACAGGGTCAAGGTGATCTGCCTGAATTTAACTGCCTGCTAGAACAACACTCAACATTCTTCACAAGAAGGCAAAAAAAAATCTACAACCTAAGTCTATCAATGGATGACTGAATAAAGAAAATGGGGTGTATATACATACATATATATATATGCACAATGGAATACTACCCAACCATAATAAAAAATCATGTCTTTTGCAGCAATATAGATGGAACTGGAGTCCATTATCATAAGTAGAATAACTCAGAAACAGAAAGCCAAATACTGCATGTTCTCACTTATAAATAGGAGCTAAATAATGTGTACACATGGACATAGAGAGTGGAATAATAGACTTTGGAGACTTGAAAAGGTGGGAAGGTAGGAGGGGATGAGGGATGAGAAACTACCGAATGGGTACAATTTAGACTACTTGGGTGATGGTTACACTAAAAGCCCAGACTTCATCACTATGTAATATATCCACGTAACAAACCTGCACTTGTACCCCCTAAAGCTATAAACACAAAAAAATAAGAAAAATGTATAAAATATCTGTGGTTTCCACAATGAATCACACACAAGGTTCTGTATACAATAAAATACTACACGTGAGGGAATAGGAAAATATAATCCATGGTTAGGAGAAAAATTGG
TCTACCTTGTCTATGATGCAAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCCACTATTGTCTTGCGACCCTGACACATCCCCCTCTCGGAGAAACACCCACGAATGATCAATAAATACTAAGGGAACTCAGAAGCTGGCGGGATCCTCCATATGCCGAACGCTGGTTCCCTGGGTCCCCCTATTTTTTTCTCTATACTTTGTCTCTGTGTCTTTTTCTTTTCCAAGTCTCTCGTTCCACCTAACGAGAAACACCCACAGGTGTGGAGAGGCAACCCACCCCTTCATTTCCTGATGCAGCTCTGTACAAAATGGCCTGACTTCCAGGGCCAGCCTCAAGGTCTCGGGGAGACAAGGGATGGCTCAGCAGAGAGCTCTGTCCCACTTAAGGAGACTCAGCTTCATCCAGAGTCTGCTGCACTACCTGTGCACAGTGCAGGGTGCGAAGGCACAAGCATATTGAATTAGGAAATCCATACTCCTTCACTACAGCTTGAGGCTACAATGGCTGGGACATCTACTTCTCTCAGTGGAGGTGAAAGCTATGTTGTGGGGAAAAGTACATGCTAAGATAATTAAGGCCATTGACTCAAAACAGGATTCAGAGAGTGCTATTCAGGTCTATTCCTTGGCCTAGGACGTCCCAGAGGGTAATTTCATACTGATCCTTTTTGGGTAAGAACCTGTTTTCTCCAAAGTGGAAATATCTTGATTACTTTCTCTGATCACACTTCACCATGGTTAAAACATTCGTACAACACAGCAAATGCAAAACCAACCCCATGATCCCAAGTCGTAGAAATAACCCTCGTTAACTATATTTTCCACACTACTTTTAATACACATTCACATGTGCACACACTCAACTCTTTAAATACAAACAGAAATCGATATATTATTTACAGCTTCTTTCGCCTAAGAAGGCACAATACAGCAATACAAAGATCTAGCTTGTTTTTTAATTGCTTCATTGCTGGAAATAGCTGCATTGCTGATAAGAGAAAAATATGGGTATCAACTTAAATGCCCATCAAAAGGGGATGACAAATAAATTATGCTCCATCTATGCCATGAAATATTATGTAGCCATTAAAAATTAGGTAGATGTATTTATGCTCATATAAAAGTATTTCCAAAATAAATTTAATAAGCAAAGTGAGAACTCTCATGTATACTATAATACTGCTTTTAAAAAAAAGAAGTGTGTGTAAAATGTGTGTATACACACACACATATATTAGTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGATGCGATCTTGGCTTACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTATTTTTTTGTATTTTTTTTTAGCAGAGATGGGGTTTCGCCATGTTAGCCAGGCTGGTCTCAAAATCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTAGGCCATATATTAGTTTTTTAAGAGGATACACAACTGTGAGTAGTGATTATGTTGACCATGAATTGAGTGAGAAGGAAACTCAGTTTTTCCTGTGCATTTTTGTGCATTGTTTCTTTTGTTCCTTTACTTTTTTAACGTACGAATGCTTCTTTACCAACTCCATTAATTGAGGATGTGTATCTGTCCTGTCCATGACTATATCCCCAGGGCTTAGAATAATAACTGCTCTTTATAAGGTCATTCAATAAATATTTACTTGAAGAACAACTTTGTGGACTAATCTATTAAAAATGCTCCAGTTAACATCCCTGCTCTTGCGTCTCTGGCCTGAGGTGAGGTTTGAGGCTGGGTTCAGCCCTTTCCCACCTCCCCCTGAGTGACACTAAGCAAAATTGTCCTTAGAAACATCCCAACTCCTGGAGTACTTACCAACAAAGGAAGATGTCTGTGAATGTCTCTGCTGTGGTGAAAAGTGCAAATATAATCCGGTACATCATCCATTTGACCTGTTGAAACAGAAAGCAACACAGCTGGTAGAAAAGGTCCAGGAAAAACACTGCCCAACACCAGGAAGAACAGGCCCCGGCGGCAGATACGGAGGCACGTCCAGGTGGTGCAGCCTGCATTTGTAGCCTTCTCCCTATCCTTCCCCAGCTTATGTCCAGTTCTGCTCCAGATCTTGAAGCTGGAAGCAAATGGGCTGTTCCACAACTGACTCAGGCTGAAGGTCATATGGCCCTAAAGTGAGCCGGGGAGACCTGCGGACCAAGAGTGACCCAGGATTCAATCAGGTCATTTTTCAGAACATCAGGGGAGAAAATGCTCTAGGCCTCTACACAAACACACCCTGGAATGAAGTGTAACTGGGCCACACTCTCTGGGATGGCATGGTAGTAATCTAGGAATTCTGATCTTCCTTTTATCTCTCCCATGTGACCATCCTTTTCAATTTCTACTGCCTTTCTCCCCTAAGGCCTTTGTCCCCTCTCTCTTGAACTACTCCTACTTCCCTTGTTTCCTGACTTTCCCCTCAGCAACCCATCCTAATACCAAGCCACCCCTGTACTATTCTCCCAAAAGTATAAACTCATCAGACTATCACCCCATTTAAAATATCCCAGCCTGCAGAATCAAGTCCAGATTCCTTAGTCTACTCCTTCTGGCTTCTGGCAAAAGTGAGGTAGCTTATATTGAACTAAGGCTCCTACTAATAATGATAATAAACACCAAACAAAATATTTCAAAACAACTGTTTGAAGGCCCTGGAGAGCAATATAAAAAGCAGACAGAGACTGGAAGGGGTTCAAGCTTTGGAGCACGGGAACCACACTGGGTTAGTACAAGTCAGTGCGGCTGAGGACAGTCCTCACTCTGCACATCATGGGGCAGAGAGAACTCAATCTCAAATCCAGAGTCTTATTTGTCCAAAGAAAAGGAGAATGCAGTTTGAGACTGCCAGAGATGCTGGAAGTGGACAGAGAAAAATCTCAGAATTAGGGAAGCCATAAAGGGGCACCCCAAAAATCTACATATAAATTCTCTTCAAAAACTTGGCAGGTCCCTGAAATGCACAGAAGCAGGTAAGACTCCAAGCGAAGAAGTCTGTATAATAATATAGATATAAATACATATAGATATAAATGTAGATATAAACAGCTGGAAAGCTGAAAAGCTCAGAGTTGAGCAGAGATTTAGCTTCTGCCCACTGTTGGGGAAACAAAGTTTGGAATTCAAGTCATGCAAAGTTAGAGGGGTTTGGTAAGCATTTGGAATTTCCAGTGAAACACCTGGAAGACCACATCTTAGCAATAAAAATTACATCCTAACACTAAGAGATTAACTCTATGACTAAGAGCAAAATTTAAATATACCTGCCCAAACAAAACGTATCTAGCTGCCACAGGGTCAAGGTGATCTGCCTGAATTTAACTGCCTGCTAGAACAACACTCAACATTCTTCACAAGAAGGCAAAAAAAAATCTACAACCTAAGTCTATCAATGGATGACTGAATAAAGAAAATGGGGTGTATATACATACATATATATATATGCACAATGGAATACTACCCAACCATAATAAAAAATCATGTCTTTTGCAGCAATATAGATGGAACTGGAGTCCATTATCATAAGTAGAATAACTCAGAAACAGAAAGCCAAATACTGCATGTTCTCACTTATAAATAGGAGCTAAATAATGTGTACACATGGACATAGAGAGTGGAATAATAGACTTTGGAGACTTGAAAAGGTGGGAAGGTAGGAGGGGATGAGGGATGAGAAACTACCGAATGGGTACAATTTAGACTACTTGGGTGATGGTTACACTAAAAGCCCAGACTTCATCACTATGTAATATATCCACGTAACAAACCTGCACTTGTACCCCCTAAAGCTATAAACACAAAAAAATAAGAAAAATGTATAAAATATCTGTGGTTTCCACAATGAATCACACACAAGGTTCTGTATACAATAAAATACTACACGTGAGGGAATAGGAAAATATAATCCATGGTTAGGAGAAAAATTGG
Task1_train_3814
The gene REEP1 (receptor accessory protein 1), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Hereditary spastic paraplegia 31
AGGAGTGTGAGTGCAGAGAAAGGCAGTTCCCTCCTGATACTACTCGGCTTGTTTCTTCAGATTCCTTTTTTACCAAGAAACCTAATCTAAACTCTTGCACGTTCCCTACTGGGAAAAGCATGTGCTCAGCAGCCAACACAAACAGCTGCTCTGCTCATCAATTATGGTTTTCACTCTAAATTAATGAATTGCCATTCTAGTCATAAACCAGGCTTCTGTGAGTTTAGTCAGAGCAAAACAATTTACCAGGGTTTGATCTCTCTCAGAAGAGCTGACAGAGTTGTTTTCGCCCCTGCAAAGTGAAGGATTAGACCTTATACCACAGTGATCCTGGTAAGGCCTCCTTCTCTGGCACAGATTGCAGGCGGGAAAGGGTTGGGAGAGGGAGGGCTAGGAGAAGCTGCTTAATGCTTTGCCCTGTGCCAAGTCAATTGAGAATCAGGAGGTTCTGTGCTTGCAATTTAACAGCTATTTATAGCGTGCATTCTGAGATTCCCTCACATATACCACAGACCCAGTCTCCAGAAGAAAAATCGCTCCCCTCTGGAACTCCCTGCTTACGAACAGCAAGGTGCAAGCCCAGGCAAGTTGTTCTGGGAAAGTGGGAGATTGCGGGGTGGGGTGGGGGGTGAGTTCTGGTTGCAGTTGATCTAGAGATGGTTGGTTTCATCATAAAGACTTCTTGGGAAATCTGAGAAAAAAAATACTGACTTTCTAAGCCCACCTTGAATTGTTTCTTTACCTTCGCCAAACCTGCCAAGAGACATCTGAGTAAAAGAGGCAAAGGCATGGCTATTACCCACCCCACTGTTCAGATGAGGACACTTAGGCTCTCGGAAGTTTAAGCTACTTAGACCAGCACTGCATCATTCAAATGTCAGAGCCAGGACTTGACCAACCTCGGTCTTCTGATGCCAAAATCCACACCTTTTGCATTTTGAGTTTGTGTCCTGTGTGGGGAAGGACACCCTTCCCTCACCACCCACCCAGCAGGTCTTTCTCAGTCAGCGGTGGTCTAATGGTTCTCCTGCCTGAAGGTGCCCAACACATTCAGAACTGGTGACTAGGGCACCCAGATCATCCAACAGTAATTGAGATTATCCTCTGACCAGTAAGTCCTCCCAGATCCCCTTCCTATGTGCTCACCTTCTGCAATGTGCTACAGGAAACAGATATAGGGGCCGGGCACTGTGGCACGCCTATAATCCCCGCTTTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAACCCTGTCCCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAATCCAAGCTACTTGGGAGGCTGAGGCTGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGGTTGTGCCACTGCTCTCCAGCCCAGGCAACAGAGTGAGACTCCGGCTCAAAAAACAAAACTATGAAAACAGATATAGGATGATAAAAATCCTCTGCCTTCAGAAGGTTATAGAGCAACACAGCCTGAATTGTGGATTTGGAATGAAAGAAATGGAATGGGGGCAGAGCTGCAGAACCAGGAACCAAACCCAGGTCTGCCAGACTCTAAAACCTGTGCTCCTGCCTGCGATGCTGGACTTTTTCTCCATCACGGTGCTTTAAGGTCTACAGAGTGTTTTCCAGACAAATAAATCAAGGCTGAGAGAGGTGAAGTCACCTGTGGCTTGTGGCACAGCTGAGAAACCTCCAATTCCAGATGCCACAGCCTCTTGCCGTATCTCCCTGCTTTTCTCACCTCAACGCTCTAGGTCTAGGCAGGGGAAGGTCTAGACAGAAAAGAGGACTCCTGAGATGTCTCATGAGAACTGTGATGAAGGAACTCCTTTTCCCTGCTTCCAGTGCCCATAGCACGGAGGGCATCCCCTTCTCCCAACATTTCACACCTGACCTGACTCCAGCCAACCCGCTCGAAAATACACAGTGCTACTTACATATTCCTTAATGTCCTTTGATTTCACAGCCTTGTAGGAATAATACGCAGGGTAAAGGGTGCCAAATATAAGCCTGGAGGGAAGAGAGACAAAAATAAATACGATTTTTCATTTATCTTATTTAATGGAAAATGTCTGTCTTCAATGCCAAGAGCAACTCTCTAAGCTACAGAAAGTGCTGCTGTGGGGCTTGATTTATTTTTATGAATGCCCTGAAGGTGTTCTGCTCGTGGCTGGGGCATCCTTGGGCACCTCTATCTTCTGTTAAAGCCCACACCCACCTCCCTTCAACCTGTGGTCTGGCAACATGGAAGGGTGGTTGGGGGTCATGGAAGCCAAAAATGGGGATGTGAAGGCACCAAGACCCCTGAAATTAAAGGCTGCCTTTCCTCTCCTGCTGCTAACCCCCCTCTGAAGCTCTGTTAAGCCTGCAAACACCTCAGGCTTCTTTCTCCATCAAAACCTTTCCCCTCAAATTTCACTCCCCTTGGACTTGATCTCAGCATCCTGCAGCTAGAATAAACTCTTCACATTTCATATTGTAAATCCAATCAGGCCAAGCCCTCCTCCCACCAATACATCCCATCTTGCATTAGCCTGTTTCTCATTGCTCTTAAGATGAAGAAGCAAAAATACCAGCAATGTGACACTGTTTGGGCAGCAGCTCTCACTGATCTATGCTCAGGGCTGCGTTGGGTCACTAAATGATCTTGTGCTCAGCCCTGCCTCTCAGGACCTGAACGGCAGAGTTCCACCTGCCCTCATTCTCTCCACCATGCACTATCCCCCACCCAGAAAGCCTTTGCCTGTGCTGTTCTCTCCTTCTGGAGTCTTCCTTCCCCCTTCTTTATCTGGTTAATGCCTGTTCATCCATCATATCCCAGCTCCAATATGACTTCTTCCCTGGCCTCCCTAACTAGCTCAAACCTCCCCACTACACTCATAGCACAGTGTACCTATTATCAGGGTGTTCTTTTATTGTTGTTTGTGTAATGTTTTGATTGACAGCCCTCTTTCCACAGCACTGTAAGTGCCTTGAGGGCAGATAATGGATCTGTTTTGCTCAACACTGTGTTCCCAGAACCTACCCCATAGTAGGCCCTCAACAGGTATTTTTAAATAAATGAATCGAGCTGGAGGTTTAATCTTTTCACCTGACAGATGAGGTCACCCCAGGTGCCAACTTAAGGCCAAGCTGACTAGGTGCAGGAGTGGGCCTGGCCCAGGTACTATATGAGCTGACATCTCCTGTGACAACCCCACAGACGGAGCTTTCAGAGTCCCTGCAAAGAGCCAGCCTAGTTACAGAAGACACCACACTGAAGAAACCCAAAGCTGTAGTTCACTGGGTATTGAGAGAACTCCTAGTCCAGAAGCAATTTACCAAGCAGGGGTCAGCTTTACCATGAGCACTGTTGCCAGGGAACACCCTGACATTCCACAATCATCAGGTTTCCAGGGAAAACAAAGTTAACTGAACCAAGTCCGTTTCTGGCACTGAAAGGGAGAGGGCTGTTAACTCTTGACTCACACATACCTTGTGCGAAGTGCTTTAGAGCTTTATCCCACTTAGACTGCCTTGTCCAAGGGAACCCCTTTTACAGACAGGACTCCAATGCACGGAGCAGCCAGTCACTTACTTGTCTAAGGCCTCATGACCAGTGAAGGGTAAGGCAGGTGCTGGAGCCCAGCCAGGCCAGCCTCCTCCAAGCCTGGCTTCTTGCGATCACTGTGCACTACCTTGGGGAGCAGCCCACCCTCCAGGAAGGCTGAAATGACCTGTGTGAAGAGCAGGATGAGCCACTGGGGGGATGAGAGAGTAGTGGAAGGAAGGGGAAAAAGTAGGCCTGGGGGTGAGGGGGAAACATTTAAGAGAGGGTAGTGCCAAAGACAGCAGGCAGGCCAAGGGGGAGGTGGCTGGGGAAGCCTGCTGGGTTTGGTCATCGCCCCCTTGGTGAGGAAGGTCCCCACACTCCTCCACACTGCCTCCTTGCCTGCCCCCTCCTAAGCATTCTCAGGTATCCAGGAGCCTCACTTCCTCGGGGAGGCCTTTCCTGACCTGGTCACCCCCCCTGACGATTGGGCTCCTCTCCGTTT
AGGAGTGTGAGTGCAGAGAAAGGCAGTTCCCTCCTGATACTACTCGGCTTGTTTCTTCAGATTCCTTTTTTACCAAGAAACCTAATCTAAACTCTTGCACGTTCCCTACTGGGAAAAGCATGTGCTCAGCAGCCAACACAAACAGCTGCTCTGCTCATCAATTATGGTTTTCACTCTAAATTAATGAATTGCCATTCTAGTCATAAACCAGGCTTCTGTGAGTTTAGTCAGAGCAAAACAATTTACCAGGGTTTGATCTCTCTCAGAAGAGCTGACAGAGTTGTTTTCGCCCCTGCAAAGTGAAGGATTAGACCTTATACCACAGTGATCCTGGTAAGGCCTCCTTCTCTGGCACAGATTGCAGGCGGGAAAGGGTTGGGAGAGGGAGGGCTAGGAGAAGCTGCTTAATGCTTTGCCCTGTGCCAAGTCAATTGAGAATCAGGAGGTTCTGTGCTTGCAATTTAACAGCTATTTATAGCGTGCATTCTGAGATTCCCTCACATATACCACAGACCCAGTCTCCAGAAGAAAAATCGCTCCCCTCTGGAACTCCCTGCTTACGAACAGCAAGGTGCAAGCCCAGGCAAGTTGTTCTGGGAAAGTGGGAGATTGCGGGGTGGGGTGGGGGGTGAGTTCTGGTTGCAGTTGATCTAGAGATGGTTGGTTTCATCATAAAGACTTCTTGGGAAATCTGAGAAAAAAAATACTGACTTTCTAAGCCCACCTTGAATTGTTTCTTTACCTTCGCCAAACCTGCCAAGAGACATCTGAGTAAAAGAGGCAAAGGCATGGCTATTACCCACCCCACTGTTCAGATGAGGACACTTAGGCTCTCGGAAGTTTAAGCTACTTAGACCAGCACTGCATCATTCAAATGTCAGAGCCAGGACTTGACCAACCTCGGTCTTCTGATGCCAAAATCCACACCTTTTGCATTTTGAGTTTGTGTCCTGTGTGGGGAAGGACACCCTTCCCTCACCACCCACCCAGCAGGTCTTTCTCAGTCAGCGGTGGTCTAATGGTTCTCCTGCCTGAAGGTGCCCAACACATTCAGAACTGGTGACTAGGGCACCCAGATCATCCAACAGTAATTGAGATTATCCTCTGACCAGTAAGTCCTCCCAGATCCCCTTCCTATGTGCTCACCTTCTGCAATGTGCTACAGGAAACAGATATAGGGGCCGGGCACTGTGGCACGCCTATAATCCCCGCTTTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAACCCTGTCCCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAATCCAAGCTACTTGGGAGGCTGAGGCTGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGGTTGTGCCACTGCTCTCCAGCCCAGGCAACAGAGTGAGACTCCGGCTCAAAAAACAAAACTATGAAAACAGATATAGGATGATAAAAATCCTCTGCCTTCAGAAGGTTATAGAGCAACACAGCCTGAATTGTGGATTTGGAATGAAAGAAATGGAATGGGGGCAGAGCTGCAGAACCAGGAACCAAACCCAGGTCTGCCAGACTCTAAAACCTGTGCTCCTGCCTGCGATGCTGGACTTTTTCTCCATCACGGTGCTTTAAGGTCTACAGAGTGTTTTCCAGACAAATAAATCAAGGCTGAGAGAGGTGAAGTCACCTGTGGCTTGTGGCACAGCTGAGAAACCTCCAATTCCAGATGCCACAGCCTCTTGCCGTATCTCCCTGCTTTTCTCACCTCAACGCTCTAGGTCTAGGCAGGGGAAGGTCTAGACAGAAAAGAGGACTCCTGAGATGTCTCATGAGAACTGTGATGAAGGAACTCCTTTTCCCTGCTTCCAGTGCCCATAGCACGGAGGGCATCCCCTTCTCCCAACATTTCACACCTGACCTGACTCCAGCCAACCCGCTCGAAAATACACAGTGCTACTTACATATTCCTTAATGTCCTTTGATTTCACAGCCTTGTAGGAATAATACGCAAGGTAAAGGGTGCCAAATATAAGCCTGGAGGGAAGAGAGACAAAAATAAATACGATTTTTCATTTATCTTATTTAATGGAAAATGTCTGTCTTCAATGCCAAGAGCAACTCTCTAAGCTACAGAAAGTGCTGCTGTGGGGCTTGATTTATTTTTATGAATGCCCTGAAGGTGTTCTGCTCGTGGCTGGGGCATCCTTGGGCACCTCTATCTTCTGTTAAAGCCCACACCCACCTCCCTTCAACCTGTGGTCTGGCAACATGGAAGGGTGGTTGGGGGTCATGGAAGCCAAAAATGGGGATGTGAAGGCACCAAGACCCCTGAAATTAAAGGCTGCCTTTCCTCTCCTGCTGCTAACCCCCCTCTGAAGCTCTGTTAAGCCTGCAAACACCTCAGGCTTCTTTCTCCATCAAAACCTTTCCCCTCAAATTTCACTCCCCTTGGACTTGATCTCAGCATCCTGCAGCTAGAATAAACTCTTCACATTTCATATTGTAAATCCAATCAGGCCAAGCCCTCCTCCCACCAATACATCCCATCTTGCATTAGCCTGTTTCTCATTGCTCTTAAGATGAAGAAGCAAAAATACCAGCAATGTGACACTGTTTGGGCAGCAGCTCTCACTGATCTATGCTCAGGGCTGCGTTGGGTCACTAAATGATCTTGTGCTCAGCCCTGCCTCTCAGGACCTGAACGGCAGAGTTCCACCTGCCCTCATTCTCTCCACCATGCACTATCCCCCACCCAGAAAGCCTTTGCCTGTGCTGTTCTCTCCTTCTGGAGTCTTCCTTCCCCCTTCTTTATCTGGTTAATGCCTGTTCATCCATCATATCCCAGCTCCAATATGACTTCTTCCCTGGCCTCCCTAACTAGCTCAAACCTCCCCACTACACTCATAGCACAGTGTACCTATTATCAGGGTGTTCTTTTATTGTTGTTTGTGTAATGTTTTGATTGACAGCCCTCTTTCCACAGCACTGTAAGTGCCTTGAGGGCAGATAATGGATCTGTTTTGCTCAACACTGTGTTCCCAGAACCTACCCCATAGTAGGCCCTCAACAGGTATTTTTAAATAAATGAATCGAGCTGGAGGTTTAATCTTTTCACCTGACAGATGAGGTCACCCCAGGTGCCAACTTAAGGCCAAGCTGACTAGGTGCAGGAGTGGGCCTGGCCCAGGTACTATATGAGCTGACATCTCCTGTGACAACCCCACAGACGGAGCTTTCAGAGTCCCTGCAAAGAGCCAGCCTAGTTACAGAAGACACCACACTGAAGAAACCCAAAGCTGTAGTTCACTGGGTATTGAGAGAACTCCTAGTCCAGAAGCAATTTACCAAGCAGGGGTCAGCTTTACCATGAGCACTGTTGCCAGGGAACACCCTGACATTCCACAATCATCAGGTTTCCAGGGAAAACAAAGTTAACTGAACCAAGTCCGTTTCTGGCACTGAAAGGGAGAGGGCTGTTAACTCTTGACTCACACATACCTTGTGCGAAGTGCTTTAGAGCTTTATCCCACTTAGACTGCCTTGTCCAAGGGAACCCCTTTTACAGACAGGACTCCAATGCACGGAGCAGCCAGTCACTTACTTGTCTAAGGCCTCATGACCAGTGAAGGGTAAGGCAGGTGCTGGAGCCCAGCCAGGCCAGCCTCCTCCAAGCCTGGCTTCTTGCGATCACTGTGCACTACCTTGGGGAGCAGCCCACCCTCCAGGAAGGCTGAAATGACCTGTGTGAAGAGCAGGATGAGCCACTGGGGGGATGAGAGAGTAGTGGAAGGAAGGGGAAAAAGTAGGCCTGGGGGTGAGGGGGAAACATTTAAGAGAGGGTAGTGCCAAAGACAGCAGGCAGGCCAAGGGGGAGGTGGCTGGGGAAGCCTGCTGGGTTTGGTCATCGCCCCCTTGGTGAGGAAGGTCCCCACACTCCTCCACACTGCCTCCTTGCCTGCCCCCTCCTAAGCATTCTCAGGTATCCAGGAGCCTCACTTCCTCGGGGAGGCCTTTCCTGACCTGGTCACCCCCCCTGACGATTGGGCTCCTCTCCGTTT
Task1_train_3815
A variant affecting Chromosome 2, within the gene CD8A (CD8 subunit alpha), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Susceptibility to respiratory infections associated with CD8alpha chain mutation
CACAGGCCAGATGCCAGCCTTGGCCTCTCTTTGCTCAGGAACTGGCTGACTCCCTGCCCCAGGATTTCACGGCCATGACCTCTCTCTGGGAAAAGTTCCCACTATTTGCTGCTGGGGAAACCAGGACCCCACCCCAGGGCTGGCCAAGGTGAGCAGGCTGAGTTCAAAAGAGACTCACCGGGGACATTTGCAAACACGTCTTCGGTTCCCTGGATAAGGAAAAAGAAGGGAAAAAGTGAGTGCCCCTATCCATCAATAGTCCCCAAAGACAGTGTATTTTTTGTTGTTGCTGTTGTTGTTGCTGCTGTTTTTTGGTTTTACAAAAAATCATTTCAGAACGATCATGGGCTGAAATTGGATGAGGCAAATAGGGAATTGCCTCTACGAATTCTCCTTCCTTTCCCCTATTTCTTTGAGGATTATAACTCTTGAGAGCCGGGTAAGGGCTTCTTATCCATCCTTCGTCTCAAGCATCAATTAAAAAAAATTGCAACTACAGACGCGGGCGAAAGCGGGGAGCCTGCAGACCTGATCCGGCACCTCTCTTGCATGGGACCCAAAGCAGGGTGGGCGGTTCGCCGAAGAGGGCCAAGGACGAACCTCAAACTGATGGTGGTTTTGACTAACCCTCCTGGGCACTTGACTCGGCCACAGCGGCCCCCTCCCGGCGGGCGTTTGTCATGTGTCCAGACATGTGCGCGCGCGCTGCGGGCTTCGTCGACGGAACACACCCGCTGCAGCGGCTCTGGGAACGCGGCTTTGTCTCCCAAAACCTCTCCGAGAGCGCAAGGAGCGGGAAGGGCTTTCTCGCATTCTATCTCCCAGAAAGAAGTGCCTGTACCTGCGGGGCAGCTCGGGAGTCCCAGAAAACTCAACCCCAAGCTCCCCCCTCGCAAGGTCCGCCTGGAGCTAGCAGAGCCAAGGGCAGGAGCGGGGCCGACTCCTTCCCGCCGCGATTCCTCGGGACTTACTGTGGTTGCAGTAAAGGGTGATAACCAGTGACAGGAGAAGGACCCCACAAGTCCCGGCCAAGGGCGCCCAGATGTAGATATCACAGGCGAAGTCCAGCCCCCTCGTGTGCACTGACGACACCAAAGACGCCGACATTTAGGAGAGGGCCCGGGACCTCCCAACCGCCCCACCGTCCCGGGAACGTCTCTCCGCCTCAGATCTCGGTTTCCCACCACTTGGACAGCCCTTGACTCTACCTACAGTATCAGGGCTGTCCCTGGCATGGGCTCTCCCCGCGGTGCGTGCCGCCCCCGCCCCGGGCCCCCGCACGCCTCACCTGCGCCCCCCGCCGCTGGCCGGCACGCCTCTGGGCGCAGGGACAGGGGCTGCGACGCGATGGTGGGCGCCGGTGTTGGTGGTCGCGGCGCTGGCGTCGTGGTGGGCTTCGCTGCAAGAGCAACAGAGCGTGGTTGGGGGCCAGGCTGGGGTTATGGAGGCGCCCCAGCCCCGGCCTCGCGCACCTTTCCCCACGGGGACGCCTCCCCCCGGTTTTCCTGGGAGAAGGGATAGCAGAGGAGACAGGATGGGGACCCCGGGATGCGCGCGGACCCCTGTGCTCGGGCCTCGGCTCAGCCCAGCGCACCCGGCGCCCAGAGCCGGAGCGCAGGAGCCAGCTCCCCTGCACCTGGCCTCTCTCCCGGGCTGAACCAGCAACCCTGGAGCGCGGGTTGATTGCTGTCCGCATTTTACCCACGAGCAAACGGAGGCGCAGATAATTTAAGTCATTTGCCCAGAATCACACAAGAATCCGAACTCGAGTCCAGATCGGCCGGACGTAAAAAGCCATCCCCAGTCCCTACTCAGCCTCGCGTTAGCCTCAGTTTGCTGTGTCTGTGAAATGGGAACAGTATCTAAGTCGCTTCCAGGTGCGCTAAGAGGCTTGAAAGCAGGGCCCAGGTGTGGAAAACAGGTTGAGGTGAACCCCAAGCCCCACGCGGAGAGGTGCCGCAACCCGGCGCGCGGACCTGGCAGGAAGACCGGCACGAAGTGGCTGAAGTACATGATGGAGTTGCTCAGGGCCGAGCAGAAATAGTAGCCCTCGTTCTCTCGGCGGAAGTCGCTCAGGGTGAGGACGAAGGTGTCCCCCAACCTCTTGCCCGAGAACCGCTGGGTGTCCAGCCCCTCGGCCGCCTTGGGCTTGTTTTGGGAGAGGTATAGGAGGAAGGTGGGACTGGCGGCGGCGCCGCGCGGCTGGAAGAGCCACGAGCAGCCCGACGTCGGGTTGGACAGCAGCACCTGGCACTTCAGCTCCACTGTCTCGCCCAGGTTCCAGGTCCGATCCAGCGGCGACACCCGGAACTGGCTCGGCCTGGCGGCGTCTGCAGGCGGCAAGCAGCGAGGCTGAGCCCGCAGTCCCGCGCCCCCCGCCCCCCGCCCGCCCCATCCCCTGCCTTCCCGGGCGTCTCAAACTCACGGAGCAGCAAGGCCAGCGGCAGGAGCAAGGCGGTCACTGGTAAGGCCATGACGCGCTCCCCAGGACGCTGCTTGGCTCGAAGCTCGGGCGCGAGGGGAGGCGCGCGGGAGCCGGTGGGGCGCCGAGGGGGGAAAGTTGCGCCCTTCGGCCGGCCCGGAGCCTGATTTCGCATTTGGAGGATGTGATGTCACCCGAAGCCCCCGCCGAGGAGAGTCACCCTCCTTTTCGCGGTTGTCGCCTTCCAGCCCGGCGAGGAGGCTGGGGCCCGTGAATAGGGCCGTCGAGGCAGCCTGGCCAGGCAACTGGGGGCAGCTGAAAACTGCGGGTTTGGGGATGAGGAAAAGGGCTTGGAAATAGTCCTTGGAAATGGTTGTCTTGTGAGAGTGACAGAGTGGGTGAAGGGAGACCAAAGATTTCAAGAAGTGAGGGCGAGAGTAGGCAGCAAAGGAGGGGAGTGTCCCTTCCTTTGCCTTCACTAAAGGCGTCTCTTGTACTGTCACCTTGGGACTTTTTATTGGCAAAATGGGCACTGAGGGCTGAAAAGGAAGAGGAACTAGCGACCTGCCCGCTTCTGAGGAACTCGCTAGAGCAGCCCCAGTTTTCACCGAGGAAGGACCCTCTCCCTTCCCCCAGGAGATTTCCATGAGAGCGGCAGCAGCCGAAGCTTTGGGTGTCGGTGTCAGTGCGCTGCTGACCTCATTCTTCCGGCCTTTCATCCAGCGGCTAAACTCACCACACAGCCTCATCTCTTCTTGGAGCCATTGCAACAGCCTTCAATTCACACCAGTCTCTCTCCTGATCAGTCCTCCAGCCACGTTGTTATAAAAATTATTATTCTCACAAAGGGGATCTGACAGCGTCACTGCTGCAGCCTCCCATGGCCTGCATTGCTGGATGGAAATTCAACCCCCAGCTTGGTTGACCAGCCCTTGGGTGCTGGCTCCTCCCAGCCTCCGCACAGCCCCCTGCCCTGCCTTTCCCATACACCTGCAGCTGCAGCTTCACAGGCTTGAAGTCATTCAACCCCTGCGCTCTGTGCTTTCACGCCCTTGCACTTGCGGTCCCTCGGCCTGGAATGCTGGTCTGTTTAAGCCCTGGAGGCAGCTCCTGTGCTGTCTCATTTGGACCTCATTTCTTTCACCCCCAGCTCTGGGTGCTCTGCAGGGAGGTGTGGGTGATGTGGGTGAATGCTTGGGTAGAGGCGGTTTTCTCTTTTCTGTCCCTAACACATGTGTGTCCCCTTCCTTTTTGTTTCTTTAAAAAATAAAATAAAATAAAAAAGACTGGAGTCTCGCTGTTTTGCTCAGGCTGGCCTTGGGACTCCTGAGCTCCAGTGATCCTCCCACCCCAGCCCCCTGAGTAGCTGGGACTACAGGCTCATCTTTCCTTTTTGACTGTTGCTGTCCTGAAACCTTCCAGCTCCAGTGGCATGCCCTCTTCCCATTTCTTCAGGGTTTCTGAGTCTTTCCACTTTGAATCCCATAGTGGCTGCACCTCACATTGCTACTGCTTGATCCTAGAGACAAGACACCTGGCATTCTGTGTTCCATGTGTCTGCCCCACCCATTAGTTCTGCTGGGCGAGGACCATGCCGAGACTTCATGATGTGTCCTCCATCCCCAGAAACACAGCATGGGCTGAGCTGTGCTTGTTGAACTGCATTCTCCTTGT
CACAGGCCAGATGCCAGCCTTGGCCTCTCTTTGCTCAGGAACTGGCTGACTCCCTGCCCCAGGATTTCACGGCCATGACCTCTCTCTGGGAAAAGTTCCCACTATTTGCTGCTGGGGAAACCAGGACCCCACCCCAGGGCTGGCCAAGGTGAGCAGGCTGAGTTCAAAAGAGACTCACCGGGGACATTTGCAAACACGTCTTCGGTTCCCTGGATAAGGAAAAAGAAGGGAAAAAGTGAGTGCCCCTATCCATCAATAGTCCCCAAAGACAGTGTATTTTTTGTTGTTGCTGTTGTTGTTGCTGCTGTTTTTTGGTTTTACAAAAAATCATTTCAGAACGATCATGGGCTGAAATTGGATGAGGCAAATAGGGAATTGCCTCTACGAATTCTCCTTCCTTTCCCCTATTTCTTTGAGGATTATAACTCTTGAGAGCCGGGTAAGGGCTTCTTATCCATCCTTCGTCTCAAGCATCAATTAAAAAAAATTGCAACTACAGACGCGGGCGAAAGCGGGGAGCCTGCAGACCTGATCCGGCACCTCTCTTGCATGGGACCCAAAGCAGGGTGGGCGGTTCGCCGAAGAGGGCCAAGGACGAACCTCAAACTGATGGTGGTTTTGACTAACCCTCCTGGGCACTTGACTCGGCCACAGCGGCCCCCTCCCGGCGGGCGTTTGTCATGTGTCCAGACATGTGCGCGCGCGCTGCGGGCTTCGTCGACGGAACACACCCGCTGCAGCGGCTCTGGGAACGCGGCTTTGTCTCCCAAAACCTCTCCGAGAGCGCAAGGAGCGGGAAGGGCTTTCTCGCATTCTATCTCCCAGAAAGAAGTGCCTGTACCTGCGGGGCAGCTCGGGAGTCCCAGAAAACTCAACCCCAAGCTCCCCCCTCGCAAGGTCCGCCTGGAGCTAGCAGAGCCAAGGGCAGGAGCGGGGCCGACTCCTTCCCGCCGCGATTCCTCGGGACTTACTGTGGTTGCAGTAAAGGGTGATAACCAGTGACAGGAGAAGGACCCCACAAGTCCCGGCCAAGGGCGCCCAGATGTAGATATCACAGGCGAAGTCCAGCCCCCTCGTGTGCACTGACGACACCAAAGACGCCGACATTTAGGAGAGGGCCCGGGACCTCCCAACCGCCCCACCGTCCCGGGAACGTCTCTCCGCCTCAGATCTCGGTTTCCCACCACTTGGACAGCCCTTGACTCTACCTACAGTATCAGGGCTGTCCCTGGCATGGGCTCTCCCCGCGGTGCGTGCCGCCCCCGCCCCGGGCCCCCGCACGCCTCACCTGCGCCCCCCGCCGCTGGCCGGCACGCCTCTGGGCGCAGGGACAGGGGCTGCGACGCGATGGTGGGCGCCGGTGTTGGTGGTCGCGGCGCTGGCGTCGTGGTGGGCTTCGCTGCAAGAGCAACAGAGCGTGGTTGGGGGCCAGGCTGGGGTTATGGAGGCGCCCCAGCCCCGGCCTCGCGCACCTTTCCCCACGGGGACGCCTCCCCCCGGTTTTCCTGGGAGAAGGGATAGCAGAGGAGACAGGATGGGGACCCCGGGATGCGCGCGGACCCCTGTGCTCGGGCCTCGGCTCAGCCCAGCGCACCCGGCGCCCAGAGCCGGAGCGCAGGAGCCAGCTCCCCTGCACCTGGCCTCTCTCCCGGGCTGAACCAGCAACCCTGGAGCGCGGGTTGATTGCTGTCCGCATTTTACCCACGAGCAAACGGAGGCGCAGATAATTTAAGTCATTTGCCCAGAATCACACAAGAATCCGAACTCGAGTCCAGATCGGCCGGACGTAAAAAGCCATCCCCAGTCCCTACTCAGCCTCGCGTTAGCCTCAGTTTGCTGTGTCTGTGAAATGGGAACAGTATCTAAGTCGCTTCCAGGTGCGCTAAGAGGCTTGAAAGCAGGGCCCAGGTGTGGAAAACAGGTTGAGGTGAACCCCAAGCCCCACGCGGAGAGGTGCCGCAACCCGGCGCGCGGACCTGGCAGGAAGACCGGCACGAAGTGGCTGAAGTACATGATGGAGTTGCTCAGGGCCGAGCAGAAATAGTAGCTCTCGTTCTCTCGGCGGAAGTCGCTCAGGGTGAGGACGAAGGTGTCCCCCAACCTCTTGCCCGAGAACCGCTGGGTGTCCAGCCCCTCGGCCGCCTTGGGCTTGTTTTGGGAGAGGTATAGGAGGAAGGTGGGACTGGCGGCGGCGCCGCGCGGCTGGAAGAGCCACGAGCAGCCCGACGTCGGGTTGGACAGCAGCACCTGGCACTTCAGCTCCACTGTCTCGCCCAGGTTCCAGGTCCGATCCAGCGGCGACACCCGGAACTGGCTCGGCCTGGCGGCGTCTGCAGGCGGCAAGCAGCGAGGCTGAGCCCGCAGTCCCGCGCCCCCCGCCCCCCGCCCGCCCCATCCCCTGCCTTCCCGGGCGTCTCAAACTCACGGAGCAGCAAGGCCAGCGGCAGGAGCAAGGCGGTCACTGGTAAGGCCATGACGCGCTCCCCAGGACGCTGCTTGGCTCGAAGCTCGGGCGCGAGGGGAGGCGCGCGGGAGCCGGTGGGGCGCCGAGGGGGGAAAGTTGCGCCCTTCGGCCGGCCCGGAGCCTGATTTCGCATTTGGAGGATGTGATGTCACCCGAAGCCCCCGCCGAGGAGAGTCACCCTCCTTTTCGCGGTTGTCGCCTTCCAGCCCGGCGAGGAGGCTGGGGCCCGTGAATAGGGCCGTCGAGGCAGCCTGGCCAGGCAACTGGGGGCAGCTGAAAACTGCGGGTTTGGGGATGAGGAAAAGGGCTTGGAAATAGTCCTTGGAAATGGTTGTCTTGTGAGAGTGACAGAGTGGGTGAAGGGAGACCAAAGATTTCAAGAAGTGAGGGCGAGAGTAGGCAGCAAAGGAGGGGAGTGTCCCTTCCTTTGCCTTCACTAAAGGCGTCTCTTGTACTGTCACCTTGGGACTTTTTATTGGCAAAATGGGCACTGAGGGCTGAAAAGGAAGAGGAACTAGCGACCTGCCCGCTTCTGAGGAACTCGCTAGAGCAGCCCCAGTTTTCACCGAGGAAGGACCCTCTCCCTTCCCCCAGGAGATTTCCATGAGAGCGGCAGCAGCCGAAGCTTTGGGTGTCGGTGTCAGTGCGCTGCTGACCTCATTCTTCCGGCCTTTCATCCAGCGGCTAAACTCACCACACAGCCTCATCTCTTCTTGGAGCCATTGCAACAGCCTTCAATTCACACCAGTCTCTCTCCTGATCAGTCCTCCAGCCACGTTGTTATAAAAATTATTATTCTCACAAAGGGGATCTGACAGCGTCACTGCTGCAGCCTCCCATGGCCTGCATTGCTGGATGGAAATTCAACCCCCAGCTTGGTTGACCAGCCCTTGGGTGCTGGCTCCTCCCAGCCTCCGCACAGCCCCCTGCCCTGCCTTTCCCATACACCTGCAGCTGCAGCTTCACAGGCTTGAAGTCATTCAACCCCTGCGCTCTGTGCTTTCACGCCCTTGCACTTGCGGTCCCTCGGCCTGGAATGCTGGTCTGTTTAAGCCCTGGAGGCAGCTCCTGTGCTGTCTCATTTGGACCTCATTTCTTTCACCCCCAGCTCTGGGTGCTCTGCAGGGAGGTGTGGGTGATGTGGGTGAATGCTTGGGTAGAGGCGGTTTTCTCTTTTCTGTCCCTAACACATGTGTGTCCCCTTCCTTTTTGTTTCTTTAAAAAATAAAATAAAATAAAAAAGACTGGAGTCTCGCTGTTTTGCTCAGGCTGGCCTTGGGACTCCTGAGCTCCAGTGATCCTCCCACCCCAGCCCCCTGAGTAGCTGGGACTACAGGCTCATCTTTCCTTTTTGACTGTTGCTGTCCTGAAACCTTCCAGCTCCAGTGGCATGCCCTCTTCCCATTTCTTCAGGGTTTCTGAGTCTTTCCACTTTGAATCCCATAGTGGCTGCACCTCACATTGCTACTGCTTGATCCTAGAGACAAGACACCTGGCATTCTGTGTTCCATGTGTCTGCCCCACCCATTAGTTCTGCTGGGCGAGGACCATGCCGAGACTTCATGATGTGTCCTCCATCCCCAGAAACACAGCATGGGCTGAGCTGTGCTTGTTGAACTGCATTCTCCTTGT
Task1_train_3816
Given a variant located on Chromosome 2 and affecting FOXI3 (forkhead box I3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; not provided
AGGCTAACCATTACAAACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCTTGCAATCCTGGTATACAGTGATGACTAAAATAGACAAAGTGACCTAACATCCTGAAGTTTCACTTCCCTTACATGGAAAATGGGGGGTAGTAACAATACCCACCACCCAAGGTTTCTGAGAGGATTAAATGAATACATGACAAGTGCCGAGAACAGTGCCTGGCACACAAGGCTGCTTGTGCCATTTTATTGCCATTAGAATATACCATGTACCAGACAGAGGTGATTTGTGAGCTGCCTATGCATAGCTCAAGGATTTGTGGTGTTGCCTAGGACAGTATGATAAACAACCAAAAAAAAATCTTCAGAGGCAAATGACACAAAGTTGGAGGTTTCCTATAAAAATTCAGATATCTGGCTCTTCTATAAAAATCAGAATGCTGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGCGAAACCCTATCTCTACTAAAAATACAAAACATTAGCTGGATGTGGTGGCAGGCACCTGTAATCCCAGCTACCCGGAAGACTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGCACCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTGTCAAAAAAAACCAAAAAAACAAAATCAGAATGCTGCCAGAGGAGAGAAAGAACCAGCTGTTCCCAGCAGCCTTCTACTAGTCAGTCCCAACTACCCTCTACTGCTTCAGTTGCCAACTGATGTTAGTTTTCTCACCCAGTAACTTCGTTGGCTTGTGTTTTTTTAGCCATCTGTACACACTTGAGCTTGCAATCCTGGCATACAGTGATAAACAAAATAGACATGGTCCCCGCCCTCACGGGGCTCACAGGCTACCTATCACAGAAGACAGTGAAACGGATTTCTCTCTGGAGAGGCCCACATGCAGAGAAACCTGTAAAAGCTCGCTGGGTTGTAGCAAGAGTTATCTACTACACCCTCATTACTCCAAGTGTGGTCAAAGGACCACGAGATCACCCAGGAACTCGACAGAAACGCAGAACTCAGGTCCTACCCCAGACCTACTGACTTGGAATCTGCATTCTAATCAGCATGTGTGCACGCCTCAGGTGTGCATACTCAAGTCTGAGAGTCTGCTCTACACCTCGGAGCCCTCTCGGGGGTAGATGAGGCTGTTCACCATGCTAAAGTTGTGGAAAGGGCTGCTGAAGGGGCTGCTTTGCCCCCCGCTGGTGCTGGCAGGGAAAGGGCTGTAATAGGAAGATCTCTGGCCGGTGCTATTGCTGGTGCTATTGCTCAGTTGCAAGGTGTCTGCTGAGGCCTCTGAGATGGAGGTCGGGGAGAACACGCCGCTGGAGGGCAGCTGGGCCCCCTGGATCCCTAGGTGGCGGCTGCCAGGGAGAGCCCGCTGGGTACTCACACTGCTGCTGACACTCAAGGAGCTGAGGCTGCTGAAGAAAGTGTTGAGACAAGGGGTGGAGGTGAGCATGGGTCCTCCAGGAGATGAGGCAGTACTCTTGGTGCCCTCCGGAGGCTCTGGGGAGTGGGAAGGCCTCAGCAGAGTGGAGGGGCTCTCTTCTTCTGGCTTCCCACCCACTCCAGACCCCAATCCTGAGGAGAGCCCTTCTTCGGACTTTGATGTCCCAGCAGCCACTGTGGAGCCATTGCTGGCCTCAGAGCGGCGCTTTCGCTTCCGACGGAAGTTCCCATTGTCAAACATTTTCTCGCAGTTCGGATCAAGAGTCCAATAATTACCCTTTCCTGAGAAGATGAGAAAGACCAAGTTAGAGAAGGACCTATTCAATGCCTGTGTACTCAGCTTCATTTCTGGGAGGAGAGCAGACTCTCATTAGATGCTGACAAAGATGCTCAATTCACTCTAATATTCAAACCAATCCTCTTTCGGGGAAAATGTTACTCTTTGCTTCAGAGAAAAATCCAGAACAAAGATGTTCTGGCCACCTTTACCTCCTCCTGGTGGTGTCTACTACTTAAATCTGAAGACCTAATTCCATTTCTGAGACACTTATAATTAAATCATGTAACACCTTCACTAATTCTAGATCCAAATTGTATGACCTTGCAAAGTCATGGAATTCTGATGCTACTTAAAGTTGAGCGTTAGACTGGGCCAACATAGTGAGATCTCGTGTCTACAAAAAAAAAAAAAAATTGAGCCTCCGTTTCTTTATTTATAAAATAGAGATAAGGATAGTACTAATTTAGTGGATTGACTGTGAGGATTAACTATTTCAGCATAGTAGCTGGCACAGAGTAAGCAGTGCAAAAACAGCACTTAACAATTATTATTCGTTGAAAGTGCATAATTCCCCACCTCTGAGAAAAATGCCCCACCAGACAAAGGCAATTTCAAAATGACAAAAAAAATTATTACTGAGCAACTGTTTTAACCATGCATTGGATGGCATAAATTTTGAGTATGAGGAAGCTCCTGGAATCTACATCCCCTCCTCATTTTGGGCAGGACCTGCCCCTACAAATCCTGCAAATGTTTCACCCATTGGGTAAATAAATTTCAGACACCAGGGCCTCATTTTTCTGCATGTAATGCTAGTTTTGTTCTATTTGCCACAAGTGAGGTAGAAAAGATCTATCATCTTGGAGGATTTTATCTCCCAAAAGCTTTTTTCACTTCTGGCAAAAGAATCCGATGTTTTAAAGTACTGTAGAATGCTTATCTTGTGGTAAGTGCTTTACACGGATAACCTCAGCTACTCCTCACAGCTTTATGGCGATAGGCAATATAACTCCTTCCACTTTTCAGATAGGAGAACTGGGGTGCAGACTGGTTAGTAACTTGTCATATTCCTAAGTTAGCCATGATAGTCAGGATGTAAACAGGCTGGCTCCAGACTCAGCATTTAAAAAAAAAATTATTTATTTATTTATATTCTCTGAGACTGGGTCTCCCTCTGTCACCCAGGCTGGAGTACAGTGGCGTAACCTTGGTTCACTGCAGCCTTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAGAGTAGCTGGTATGACAGGAGTATACCACTATGAATGGCTAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTCTTAACTAACCACTGGGCTAAGCCGCCTCCACTTGAACCACGTTCTGCAAATAGTTATAGGGAAAAAAATTACATAACTAGAATTTCAATAATATCTCCACCTATCTGGATATGTATATTGTGCCACGTTGGTACCAACTTTTTTGATAAAAAACTAGCCATAGACCCCTGACCTTTTAGAGTGAAGTCTAGAGCAGTTTACACGACAATTTACATGATAATCTTGGGTGGTACAGAAGCCAAATCCAGAGGATGCATCTTCTAGAACTGCATACCCTGCCCAATACAGTAGCCACTAGCCACGCATTATTATTGGGCACTTGAAATATGGCTAGTCAAATTGAGATG
AGGCTAACCATTACAAACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCTTGCAATCCTGGTATACAGTGATGACTAAAATAGACAAAGTGACCTAACATCCTGAAGTTTCACTTCCCTTACATGGAAAATGGGGGGTAGTAACAATACCCACCACCCAAGGTTTCTGAGAGGATTAAATGAATACATGACAAGTGCCGAGAACAGTGCCTGGCACACAAGGCTGCTTGTGCCATTTTATTGCCATTAGAATATACCATGTACCAGACAGAGGTGATTTGTGAGCTGCCTATGCATAGCTCAAGGATTTGTGGTGTTGCCTAGGACAGTATGATAAACAACCAAAAAAAAATCTTCAGAGGCAAATGACACAAAGTTGGAGGTTTCCTATAAAAATTCAGATATCTGGCTCTTCTATAAAAATCAGAATGCTGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGCGAAACCCTATCTCTACTAAAAATACAAAACATTAGCTGGATGTGGTGGCAGGCACCTGTAATCCCAGCTACCCGGAAGACTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGCACCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTGTCAAAAAAAACCAAAAAAACAAAATCAGAATGCTGCCAGAGGAGAGAAAGAACCAGCTGTTCCCAGCAGCCTTCTACTAGTCAGTCCCAACTACCCTCTACTGCTTCAGTTGCCAACTGATGTTAGTTTTCTCACCCAGTAACTTCGTTGGCTTGTGTTTTTTTAGCCATCTGTACACACTTGAGCTTGCAATCCTGGCATACAGTGATAAACAAAATAGACATGGTCCCCGCCCTCACGGGGCTCACAGGCTACCTATCACAGAAGACAGTGAAACGGATTTCTCTCTGGAGAGGCCCACATGCAGAGAAACCTGTAAAAGCTCGCTGGGTTGTAGCAAGAGTTATCTACTACACCCTCATTACTCCAAGTGTGGTCAAAGGACCACGAGATCACCCAGGAACTCGACAGAAACGCAGAACTCAGGTCCTACCCCAGACCTACTGACTTGGAATCTGCATTCTAATCAGCATGTGTGCACGCCTCAGGTGTGCATACTCAAGTCTGAGAGTCTGCTCTACACCTCGGAGCCCTCTCGGGGGTAGATGAGGCTGTTCACCATGCTAAAGTTGTGGAAAGGGCTGCTGAAGGGGCTGCTTTGCCCCCCGCTGGTGCTGGCAGGGAAAGGGCTGTAATAGGAAGATCTCTGGCCGGTGCTATTGCTGGTGCTATTGCTCAGTTGCAAGGTGTCTGCTGAGGCCTCTGAGATGGAGGTCGGGGAGAACACGCCGCTGGAGGGCAGCTGGGCCCCCTGGATCCCTAGGTGGCGGCTGCCAGGGAGAGCCCGCTGGGTACTCACACTGCTGCTGACACTCAAGGAGCTGAGGCTGCTGAAGAAAGTGTTGAGACAAGGGGTGGAGGTGAGCATGGGTCCTCCAGGAGATGAGGCAGTACTCTTGGTGCCCTCCGGAGGCTCTGGGGAGTGGGAAGGCCTCAGCAGAGTGGAGGGGCTCTCTTCTTCTGGCTTCCCACCCACTCCAGACCCCAATCCTGAGGAGAGCCCTTCTTCGGACTTTGATGTCCCAGCAGCCACTGTGGAGCCATTGCTGGCCTCAGAGCGGCACTTTCGCTTCCGACGGAAGTTCCCATTGTCAAACATTTTCTCGCAGTTCGGATCAAGAGTCCAATAATTACCCTTTCCTGAGAAGATGAGAAAGACCAAGTTAGAGAAGGACCTATTCAATGCCTGTGTACTCAGCTTCATTTCTGGGAGGAGAGCAGACTCTCATTAGATGCTGACAAAGATGCTCAATTCACTCTAATATTCAAACCAATCCTCTTTCGGGGAAAATGTTACTCTTTGCTTCAGAGAAAAATCCAGAACAAAGATGTTCTGGCCACCTTTACCTCCTCCTGGTGGTGTCTACTACTTAAATCTGAAGACCTAATTCCATTTCTGAGACACTTATAATTAAATCATGTAACACCTTCACTAATTCTAGATCCAAATTGTATGACCTTGCAAAGTCATGGAATTCTGATGCTACTTAAAGTTGAGCGTTAGACTGGGCCAACATAGTGAGATCTCGTGTCTACAAAAAAAAAAAAAAATTGAGCCTCCGTTTCTTTATTTATAAAATAGAGATAAGGATAGTACTAATTTAGTGGATTGACTGTGAGGATTAACTATTTCAGCATAGTAGCTGGCACAGAGTAAGCAGTGCAAAAACAGCACTTAACAATTATTATTCGTTGAAAGTGCATAATTCCCCACCTCTGAGAAAAATGCCCCACCAGACAAAGGCAATTTCAAAATGACAAAAAAAATTATTACTGAGCAACTGTTTTAACCATGCATTGGATGGCATAAATTTTGAGTATGAGGAAGCTCCTGGAATCTACATCCCCTCCTCATTTTGGGCAGGACCTGCCCCTACAAATCCTGCAAATGTTTCACCCATTGGGTAAATAAATTTCAGACACCAGGGCCTCATTTTTCTGCATGTAATGCTAGTTTTGTTCTATTTGCCACAAGTGAGGTAGAAAAGATCTATCATCTTGGAGGATTTTATCTCCCAAAAGCTTTTTTCACTTCTGGCAAAAGAATCCGATGTTTTAAAGTACTGTAGAATGCTTATCTTGTGGTAAGTGCTTTACACGGATAACCTCAGCTACTCCTCACAGCTTTATGGCGATAGGCAATATAACTCCTTCCACTTTTCAGATAGGAGAACTGGGGTGCAGACTGGTTAGTAACTTGTCATATTCCTAAGTTAGCCATGATAGTCAGGATGTAAACAGGCTGGCTCCAGACTCAGCATTTAAAAAAAAAATTATTTATTTATTTATATTCTCTGAGACTGGGTCTCCCTCTGTCACCCAGGCTGGAGTACAGTGGCGTAACCTTGGTTCACTGCAGCCTTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAGAGTAGCTGGTATGACAGGAGTATACCACTATGAATGGCTAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTCTTAACTAACCACTGGGCTAAGCCGCCTCCACTTGAACCACGTTCTGCAAATAGTTATAGGGAAAAAAATTACATAACTAGAATTTCAATAATATCTCCACCTATCTGGATATGTATATTGTGCCACGTTGGTACCAACTTTTTTGATAAAAAACTAGCCATAGACCCCTGACCTTTTAGAGTGAAGTCTAGAGCAGTTTACACGACAATTTACATGATAATCTTGGGTGGTACAGAAGCCAAATCCAGAGGATGCATCTTCTAGAACTGCATACCCTGCCCAATACAGTAGCCACTAGCCACGCATTATTATTGGGCACTTGAAATATGGCTAGTCAAATTGAGATG
Task1_train_3817
The gene FOXI3 (forkhead box I3) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Craniofacial microsomia 2
ACAAACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCTTGCAATCCTGGTATACAGTGATGACTAAAATAGACAAAGTGACCTAACATCCTGAAGTTTCACTTCCCTTACATGGAAAATGGGGGGTAGTAACAATACCCACCACCCAAGGTTTCTGAGAGGATTAAATGAATACATGACAAGTGCCGAGAACAGTGCCTGGCACACAAGGCTGCTTGTGCCATTTTATTGCCATTAGAATATACCATGTACCAGACAGAGGTGATTTGTGAGCTGCCTATGCATAGCTCAAGGATTTGTGGTGTTGCCTAGGACAGTATGATAAACAACCAAAAAAAAATCTTCAGAGGCAAATGACACAAAGTTGGAGGTTTCCTATAAAAATTCAGATATCTGGCTCTTCTATAAAAATCAGAATGCTGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGCGAAACCCTATCTCTACTAAAAATACAAAACATTAGCTGGATGTGGTGGCAGGCACCTGTAATCCCAGCTACCCGGAAGACTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGCACCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTGTCAAAAAAAACCAAAAAAACAAAATCAGAATGCTGCCAGAGGAGAGAAAGAACCAGCTGTTCCCAGCAGCCTTCTACTAGTCAGTCCCAACTACCCTCTACTGCTTCAGTTGCCAACTGATGTTAGTTTTCTCACCCAGTAACTTCGTTGGCTTGTGTTTTTTTAGCCATCTGTACACACTTGAGCTTGCAATCCTGGCATACAGTGATAAACAAAATAGACATGGTCCCCGCCCTCACGGGGCTCACAGGCTACCTATCACAGAAGACAGTGAAACGGATTTCTCTCTGGAGAGGCCCACATGCAGAGAAACCTGTAAAAGCTCGCTGGGTTGTAGCAAGAGTTATCTACTACACCCTCATTACTCCAAGTGTGGTCAAAGGACCACGAGATCACCCAGGAACTCGACAGAAACGCAGAACTCAGGTCCTACCCCAGACCTACTGACTTGGAATCTGCATTCTAATCAGCATGTGTGCACGCCTCAGGTGTGCATACTCAAGTCTGAGAGTCTGCTCTACACCTCGGAGCCCTCTCGGGGGTAGATGAGGCTGTTCACCATGCTAAAGTTGTGGAAAGGGCTGCTGAAGGGGCTGCTTTGCCCCCCGCTGGTGCTGGCAGGGAAAGGGCTGTAATAGGAAGATCTCTGGCCGGTGCTATTGCTGGTGCTATTGCTCAGTTGCAAGGTGTCTGCTGAGGCCTCTGAGATGGAGGTCGGGGAGAACACGCCGCTGGAGGGCAGCTGGGCCCCCTGGATCCCTAGGTGGCGGCTGCCAGGGAGAGCCCGCTGGGTACTCACACTGCTGCTGACACTCAAGGAGCTGAGGCTGCTGAAGAAAGTGTTGAGACAAGGGGTGGAGGTGAGCATGGGTCCTCCAGGAGATGAGGCAGTACTCTTGGTGCCCTCCGGAGGCTCTGGGGAGTGGGAAGGCCTCAGCAGAGTGGAGGGGCTCTCTTCTTCTGGCTTCCCACCCACTCCAGACCCCAATCCTGAGGAGAGCCCTTCTTCGGACTTTGATGTCCCAGCAGCCACTGTGGAGCCATTGCTGGCCTCAGAGCGGCGCTTTCGCTTCCGACGGAAGTTCCCATTGTCAAACATTTTCTCGCAGTTCGGATCAAGAGTCCAATAATTACCCTTTCCTGAGAAGATGAGAAAGACCAAGTTAGAGAAGGACCTATTCAATGCCTGTGTACTCAGCTTCATTTCTGGGAGGAGAGCAGACTCTCATTAGATGCTGACAAAGATGCTCAATTCACTCTAATATTCAAACCAATCCTCTTTCGGGGAAAATGTTACTCTTTGCTTCAGAGAAAAATCCAGAACAAAGATGTTCTGGCCACCTTTACCTCCTCCTGGTGGTGTCTACTACTTAAATCTGAAGACCTAATTCCATTTCTGAGACACTTATAATTAAATCATGTAACACCTTCACTAATTCTAGATCCAAATTGTATGACCTTGCAAAGTCATGGAATTCTGATGCTACTTAAAGTTGAGCGTTAGACTGGGCCAACATAGTGAGATCTCGTGTCTACAAAAAAAAAAAAAAATTGAGCCTCCGTTTCTTTATTTATAAAATAGAGATAAGGATAGTACTAATTTAGTGGATTGACTGTGAGGATTAACTATTTCAGCATAGTAGCTGGCACAGAGTAAGCAGTGCAAAAACAGCACTTAACAATTATTATTCGTTGAAAGTGCATAATTCCCCACCTCTGAGAAAAATGCCCCACCAGACAAAGGCAATTTCAAAATGACAAAAAAAATTATTACTGAGCAACTGTTTTAACCATGCATTGGATGGCATAAATTTTGAGTATGAGGAAGCTCCTGGAATCTACATCCCCTCCTCATTTTGGGCAGGACCTGCCCCTACAAATCCTGCAAATGTTTCACCCATTGGGTAAATAAATTTCAGACACCAGGGCCTCATTTTTCTGCATGTAATGCTAGTTTTGTTCTATTTGCCACAAGTGAGGTAGAAAAGATCTATCATCTTGGAGGATTTTATCTCCCAAAAGCTTTTTTCACTTCTGGCAAAAGAATCCGATGTTTTAAAGTACTGTAGAATGCTTATCTTGTGGTAAGTGCTTTACACGGATAACCTCAGCTACTCCTCACAGCTTTATGGCGATAGGCAATATAACTCCTTCCACTTTTCAGATAGGAGAACTGGGGTGCAGACTGGTTAGTAACTTGTCATATTCCTAAGTTAGCCATGATAGTCAGGATGTAAACAGGCTGGCTCCAGACTCAGCATTTAAAAAAAAAATTATTTATTTATTTATATTCTCTGAGACTGGGTCTCCCTCTGTCACCCAGGCTGGAGTACAGTGGCGTAACCTTGGTTCACTGCAGCCTTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAGAGTAGCTGGTATGACAGGAGTATACCACTATGAATGGCTAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTCTTAACTAACCACTGGGCTAAGCCGCCTCCACTTGAACCACGTTCTGCAAATAGTTATAGGGAAAAAAATTACATAACTAGAATTTCAATAATATCTCCACCTATCTGGATATGTATATTGTGCCACGTTGGTACCAACTTTTTTGATAAAAAACTAGCCATAGACCCCTGACCTTTTAGAGTGAAGTCTAGAGCAGTTTACACGACAATTTACATGATAATCTTGGGTGGTACAGAAGCCAAATCCAGAGGATGCATCTTCTAGAACTGCATACCCTGCCCAATACAGTAGCCACTAGCCACGCATTATTATTGGGCACTTGAAATATGGCTAGTCAAATTGAGATGTAGTGTAAAATA
ACAAACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCTTGCAATCCTGGTATACAGTGATGACTAAAATAGACAAAGTGACCTAACATCCTGAAGTTTCACTTCCCTTACATGGAAAATGGGGGGTAGTAACAATACCCACCACCCAAGGTTTCTGAGAGGATTAAATGAATACATGACAAGTGCCGAGAACAGTGCCTGGCACACAAGGCTGCTTGTGCCATTTTATTGCCATTAGAATATACCATGTACCAGACAGAGGTGATTTGTGAGCTGCCTATGCATAGCTCAAGGATTTGTGGTGTTGCCTAGGACAGTATGATAAACAACCAAAAAAAAATCTTCAGAGGCAAATGACACAAAGTTGGAGGTTTCCTATAAAAATTCAGATATCTGGCTCTTCTATAAAAATCAGAATGCTGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGCGAAACCCTATCTCTACTAAAAATACAAAACATTAGCTGGATGTGGTGGCAGGCACCTGTAATCCCAGCTACCCGGAAGACTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGCACCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTGTCAAAAAAAACCAAAAAAACAAAATCAGAATGCTGCCAGAGGAGAGAAAGAACCAGCTGTTCCCAGCAGCCTTCTACTAGTCAGTCCCAACTACCCTCTACTGCTTCAGTTGCCAACTGATGTTAGTTTTCTCACCCAGTAACTTCGTTGGCTTGTGTTTTTTTAGCCATCTGTACACACTTGAGCTTGCAATCCTGGCATACAGTGATAAACAAAATAGACATGGTCCCCGCCCTCACGGGGCTCACAGGCTACCTATCACAGAAGACAGTGAAACGGATTTCTCTCTGGAGAGGCCCACATGCAGAGAAACCTGTAAAAGCTCGCTGGGTTGTAGCAAGAGTTATCTACTACACCCTCATTACTCCAAGTGTGGTCAAAGGACCACGAGATCACCCAGGAACTCGACAGAAACGCAGAACTCAGGTCCTACCCCAGACCTACTGACTTGGAATCTGCATTCTAATCAGCATGTGTGCACGCCTCAGGTGTGCATACTCAAGTCTGAGAGTCTGCTCTACACCTCGGAGCCCTCTCGGGGGTAGATGAGGCTGTTCACCATGCTAAAGTTGTGGAAAGGGCTGCTGAAGGGGCTGCTTTGCCCCCCGCTGGTGCTGGCAGGGAAAGGGCTGTAATAGGAAGATCTCTGGCCGGTGCTATTGCTGGTGCTATTGCTCAGTTGCAAGGTGTCTGCTGAGGCCTCTGAGATGGAGGTCGGGGAGAACACGCCGCTGGAGGGCAGCTGGGCCCCCTGGATCCCTAGGTGGCGGCTGCCAGGGAGAGCCCGCTGGGTACTCACACTGCTGCTGACACTCAAGGAGCTGAGGCTGCTGAAGAAAGTGTTGAGACAAGGGGTGGAGGTGAGCATGGGTCCTCCAGGAGATGAGGCAGTACTCTTGGTGCCCTCCGGAGGCTCTGGGGAGTGGGAAGGCCTCAGCAGAGTGGAGGGGCTCTCTTCTTCTGGCTTCCCACCCACTCCAGACCCCAATCCTGAGGAGAGCCCTTCTTCGGACTTTGATGTCCCAGCAGCCACTGTGGAGCCATTGCTGGCCTCAGAGCGGCGCTTTCGCTTCCAACGGAAGTTCCCATTGTCAAACATTTTCTCGCAGTTCGGATCAAGAGTCCAATAATTACCCTTTCCTGAGAAGATGAGAAAGACCAAGTTAGAGAAGGACCTATTCAATGCCTGTGTACTCAGCTTCATTTCTGGGAGGAGAGCAGACTCTCATTAGATGCTGACAAAGATGCTCAATTCACTCTAATATTCAAACCAATCCTCTTTCGGGGAAAATGTTACTCTTTGCTTCAGAGAAAAATCCAGAACAAAGATGTTCTGGCCACCTTTACCTCCTCCTGGTGGTGTCTACTACTTAAATCTGAAGACCTAATTCCATTTCTGAGACACTTATAATTAAATCATGTAACACCTTCACTAATTCTAGATCCAAATTGTATGACCTTGCAAAGTCATGGAATTCTGATGCTACTTAAAGTTGAGCGTTAGACTGGGCCAACATAGTGAGATCTCGTGTCTACAAAAAAAAAAAAAAATTGAGCCTCCGTTTCTTTATTTATAAAATAGAGATAAGGATAGTACTAATTTAGTGGATTGACTGTGAGGATTAACTATTTCAGCATAGTAGCTGGCACAGAGTAAGCAGTGCAAAAACAGCACTTAACAATTATTATTCGTTGAAAGTGCATAATTCCCCACCTCTGAGAAAAATGCCCCACCAGACAAAGGCAATTTCAAAATGACAAAAAAAATTATTACTGAGCAACTGTTTTAACCATGCATTGGATGGCATAAATTTTGAGTATGAGGAAGCTCCTGGAATCTACATCCCCTCCTCATTTTGGGCAGGACCTGCCCCTACAAATCCTGCAAATGTTTCACCCATTGGGTAAATAAATTTCAGACACCAGGGCCTCATTTTTCTGCATGTAATGCTAGTTTTGTTCTATTTGCCACAAGTGAGGTAGAAAAGATCTATCATCTTGGAGGATTTTATCTCCCAAAAGCTTTTTTCACTTCTGGCAAAAGAATCCGATGTTTTAAAGTACTGTAGAATGCTTATCTTGTGGTAAGTGCTTTACACGGATAACCTCAGCTACTCCTCACAGCTTTATGGCGATAGGCAATATAACTCCTTCCACTTTTCAGATAGGAGAACTGGGGTGCAGACTGGTTAGTAACTTGTCATATTCCTAAGTTAGCCATGATAGTCAGGATGTAAACAGGCTGGCTCCAGACTCAGCATTTAAAAAAAAAATTATTTATTTATTTATATTCTCTGAGACTGGGTCTCCCTCTGTCACCCAGGCTGGAGTACAGTGGCGTAACCTTGGTTCACTGCAGCCTTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAGAGTAGCTGGTATGACAGGAGTATACCACTATGAATGGCTAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTCTTAACTAACCACTGGGCTAAGCCGCCTCCACTTGAACCACGTTCTGCAAATAGTTATAGGGAAAAAAATTACATAACTAGAATTTCAATAATATCTCCACCTATCTGGATATGTATATTGTGCCACGTTGGTACCAACTTTTTTGATAAAAAACTAGCCATAGACCCCTGACCTTTTAGAGTGAAGTCTAGAGCAGTTTACACGACAATTTACATGATAATCTTGGGTGGTACAGAAGCCAAATCCAGAGGATGCATCTTCTAGAACTGCATACCCTGCCCAATACAGTAGCCACTAGCCACGCATTATTATTGGGCACTTGAAATATGGCTAGTCAAATTGAGATGTAGTGTAAAATA
Task1_train_3818
This genomic variant is located on Chromosome 2, within the FOXI3 (forkhead box I3) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Craniofacial microsomia 1
ACAAACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCTTGCAATCCTGGTATACAGTGATGACTAAAATAGACAAAGTGACCTAACATCCTGAAGTTTCACTTCCCTTACATGGAAAATGGGGGGTAGTAACAATACCCACCACCCAAGGTTTCTGAGAGGATTAAATGAATACATGACAAGTGCCGAGAACAGTGCCTGGCACACAAGGCTGCTTGTGCCATTTTATTGCCATTAGAATATACCATGTACCAGACAGAGGTGATTTGTGAGCTGCCTATGCATAGCTCAAGGATTTGTGGTGTTGCCTAGGACAGTATGATAAACAACCAAAAAAAAATCTTCAGAGGCAAATGACACAAAGTTGGAGGTTTCCTATAAAAATTCAGATATCTGGCTCTTCTATAAAAATCAGAATGCTGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGCGAAACCCTATCTCTACTAAAAATACAAAACATTAGCTGGATGTGGTGGCAGGCACCTGTAATCCCAGCTACCCGGAAGACTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGCACCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTGTCAAAAAAAACCAAAAAAACAAAATCAGAATGCTGCCAGAGGAGAGAAAGAACCAGCTGTTCCCAGCAGCCTTCTACTAGTCAGTCCCAACTACCCTCTACTGCTTCAGTTGCCAACTGATGTTAGTTTTCTCACCCAGTAACTTCGTTGGCTTGTGTTTTTTTAGCCATCTGTACACACTTGAGCTTGCAATCCTGGCATACAGTGATAAACAAAATAGACATGGTCCCCGCCCTCACGGGGCTCACAGGCTACCTATCACAGAAGACAGTGAAACGGATTTCTCTCTGGAGAGGCCCACATGCAGAGAAACCTGTAAAAGCTCGCTGGGTTGTAGCAAGAGTTATCTACTACACCCTCATTACTCCAAGTGTGGTCAAAGGACCACGAGATCACCCAGGAACTCGACAGAAACGCAGAACTCAGGTCCTACCCCAGACCTACTGACTTGGAATCTGCATTCTAATCAGCATGTGTGCACGCCTCAGGTGTGCATACTCAAGTCTGAGAGTCTGCTCTACACCTCGGAGCCCTCTCGGGGGTAGATGAGGCTGTTCACCATGCTAAAGTTGTGGAAAGGGCTGCTGAAGGGGCTGCTTTGCCCCCCGCTGGTGCTGGCAGGGAAAGGGCTGTAATAGGAAGATCTCTGGCCGGTGCTATTGCTGGTGCTATTGCTCAGTTGCAAGGTGTCTGCTGAGGCCTCTGAGATGGAGGTCGGGGAGAACACGCCGCTGGAGGGCAGCTGGGCCCCCTGGATCCCTAGGTGGCGGCTGCCAGGGAGAGCCCGCTGGGTACTCACACTGCTGCTGACACTCAAGGAGCTGAGGCTGCTGAAGAAAGTGTTGAGACAAGGGGTGGAGGTGAGCATGGGTCCTCCAGGAGATGAGGCAGTACTCTTGGTGCCCTCCGGAGGCTCTGGGGAGTGGGAAGGCCTCAGCAGAGTGGAGGGGCTCTCTTCTTCTGGCTTCCCACCCACTCCAGACCCCAATCCTGAGGAGAGCCCTTCTTCGGACTTTGATGTCCCAGCAGCCACTGTGGAGCCATTGCTGGCCTCAGAGCGGCGCTTTCGCTTCCGACGGAAGTTCCCATTGTCAAACATTTTCTCGCAGTTCGGATCAAGAGTCCAATAATTACCCTTTCCTGAGAAGATGAGAAAGACCAAGTTAGAGAAGGACCTATTCAATGCCTGTGTACTCAGCTTCATTTCTGGGAGGAGAGCAGACTCTCATTAGATGCTGACAAAGATGCTCAATTCACTCTAATATTCAAACCAATCCTCTTTCGGGGAAAATGTTACTCTTTGCTTCAGAGAAAAATCCAGAACAAAGATGTTCTGGCCACCTTTACCTCCTCCTGGTGGTGTCTACTACTTAAATCTGAAGACCTAATTCCATTTCTGAGACACTTATAATTAAATCATGTAACACCTTCACTAATTCTAGATCCAAATTGTATGACCTTGCAAAGTCATGGAATTCTGATGCTACTTAAAGTTGAGCGTTAGACTGGGCCAACATAGTGAGATCTCGTGTCTACAAAAAAAAAAAAAAATTGAGCCTCCGTTTCTTTATTTATAAAATAGAGATAAGGATAGTACTAATTTAGTGGATTGACTGTGAGGATTAACTATTTCAGCATAGTAGCTGGCACAGAGTAAGCAGTGCAAAAACAGCACTTAACAATTATTATTCGTTGAAAGTGCATAATTCCCCACCTCTGAGAAAAATGCCCCACCAGACAAAGGCAATTTCAAAATGACAAAAAAAATTATTACTGAGCAACTGTTTTAACCATGCATTGGATGGCATAAATTTTGAGTATGAGGAAGCTCCTGGAATCTACATCCCCTCCTCATTTTGGGCAGGACCTGCCCCTACAAATCCTGCAAATGTTTCACCCATTGGGTAAATAAATTTCAGACACCAGGGCCTCATTTTTCTGCATGTAATGCTAGTTTTGTTCTATTTGCCACAAGTGAGGTAGAAAAGATCTATCATCTTGGAGGATTTTATCTCCCAAAAGCTTTTTTCACTTCTGGCAAAAGAATCCGATGTTTTAAAGTACTGTAGAATGCTTATCTTGTGGTAAGTGCTTTACACGGATAACCTCAGCTACTCCTCACAGCTTTATGGCGATAGGCAATATAACTCCTTCCACTTTTCAGATAGGAGAACTGGGGTGCAGACTGGTTAGTAACTTGTCATATTCCTAAGTTAGCCATGATAGTCAGGATGTAAACAGGCTGGCTCCAGACTCAGCATTTAAAAAAAAAATTATTTATTTATTTATATTCTCTGAGACTGGGTCTCCCTCTGTCACCCAGGCTGGAGTACAGTGGCGTAACCTTGGTTCACTGCAGCCTTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAGAGTAGCTGGTATGACAGGAGTATACCACTATGAATGGCTAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTCTTAACTAACCACTGGGCTAAGCCGCCTCCACTTGAACCACGTTCTGCAAATAGTTATAGGGAAAAAAATTACATAACTAGAATTTCAATAATATCTCCACCTATCTGGATATGTATATTGTGCCACGTTGGTACCAACTTTTTTGATAAAAAACTAGCCATAGACCCCTGACCTTTTAGAGTGAAGTCTAGAGCAGTTTACACGACAATTTACATGATAATCTTGGGTGGTACAGAAGCCAAATCCAGAGGATGCATCTTCTAGAACTGCATACCCTGCCCAATACAGTAGCCACTAGCCACGCATTATTATTGGGCACTTGAAATATGGCTAGTCAAATTGAGATGTAGTGTAAAATA
ACAAACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCTTGCAATCCTGGTATACAGTGATGACTAAAATAGACAAAGTGACCTAACATCCTGAAGTTTCACTTCCCTTACATGGAAAATGGGGGGTAGTAACAATACCCACCACCCAAGGTTTCTGAGAGGATTAAATGAATACATGACAAGTGCCGAGAACAGTGCCTGGCACACAAGGCTGCTTGTGCCATTTTATTGCCATTAGAATATACCATGTACCAGACAGAGGTGATTTGTGAGCTGCCTATGCATAGCTCAAGGATTTGTGGTGTTGCCTAGGACAGTATGATAAACAACCAAAAAAAAATCTTCAGAGGCAAATGACACAAAGTTGGAGGTTTCCTATAAAAATTCAGATATCTGGCTCTTCTATAAAAATCAGAATGCTGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGCGAAACCCTATCTCTACTAAAAATACAAAACATTAGCTGGATGTGGTGGCAGGCACCTGTAATCCCAGCTACCCGGAAGACTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGCACCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTGTCAAAAAAAACCAAAAAAACAAAATCAGAATGCTGCCAGAGGAGAGAAAGAACCAGCTGTTCCCAGCAGCCTTCTACTAGTCAGTCCCAACTACCCTCTACTGCTTCAGTTGCCAACTGATGTTAGTTTTCTCACCCAGTAACTTCGTTGGCTTGTGTTTTTTTAGCCATCTGTACACACTTGAGCTTGCAATCCTGGCATACAGTGATAAACAAAATAGACATGGTCCCCGCCCTCACGGGGCTCACAGGCTACCTATCACAGAAGACAGTGAAACGGATTTCTCTCTGGAGAGGCCCACATGCAGAGAAACCTGTAAAAGCTCGCTGGGTTGTAGCAAGAGTTATCTACTACACCCTCATTACTCCAAGTGTGGTCAAAGGACCACGAGATCACCCAGGAACTCGACAGAAACGCAGAACTCAGGTCCTACCCCAGACCTACTGACTTGGAATCTGCATTCTAATCAGCATGTGTGCACGCCTCAGGTGTGCATACTCAAGTCTGAGAGTCTGCTCTACACCTCGGAGCCCTCTCGGGGGTAGATGAGGCTGTTCACCATGCTAAAGTTGTGGAAAGGGCTGCTGAAGGGGCTGCTTTGCCCCCCGCTGGTGCTGGCAGGGAAAGGGCTGTAATAGGAAGATCTCTGGCCGGTGCTATTGCTGGTGCTATTGCTCAGTTGCAAGGTGTCTGCTGAGGCCTCTGAGATGGAGGTCGGGGAGAACACGCCGCTGGAGGGCAGCTGGGCCCCCTGGATCCCTAGGTGGCGGCTGCCAGGGAGAGCCCGCTGGGTACTCACACTGCTGCTGACACTCAAGGAGCTGAGGCTGCTGAAGAAAGTGTTGAGACAAGGGGTGGAGGTGAGCATGGGTCCTCCAGGAGATGAGGCAGTACTCTTGGTGCCCTCCGGAGGCTCTGGGGAGTGGGAAGGCCTCAGCAGAGTGGAGGGGCTCTCTTCTTCTGGCTTCCCACCCACTCCAGACCCCAATCCTGAGGAGAGCCCTTCTTCGGACTTTGATGTCCCAGCAGCCACTGTGGAGCCATTGCTGGCCTCAGAGCGGCGCTTTCGCTTCCAACGGAAGTTCCCATTGTCAAACATTTTCTCGCAGTTCGGATCAAGAGTCCAATAATTACCCTTTCCTGAGAAGATGAGAAAGACCAAGTTAGAGAAGGACCTATTCAATGCCTGTGTACTCAGCTTCATTTCTGGGAGGAGAGCAGACTCTCATTAGATGCTGACAAAGATGCTCAATTCACTCTAATATTCAAACCAATCCTCTTTCGGGGAAAATGTTACTCTTTGCTTCAGAGAAAAATCCAGAACAAAGATGTTCTGGCCACCTTTACCTCCTCCTGGTGGTGTCTACTACTTAAATCTGAAGACCTAATTCCATTTCTGAGACACTTATAATTAAATCATGTAACACCTTCACTAATTCTAGATCCAAATTGTATGACCTTGCAAAGTCATGGAATTCTGATGCTACTTAAAGTTGAGCGTTAGACTGGGCCAACATAGTGAGATCTCGTGTCTACAAAAAAAAAAAAAAATTGAGCCTCCGTTTCTTTATTTATAAAATAGAGATAAGGATAGTACTAATTTAGTGGATTGACTGTGAGGATTAACTATTTCAGCATAGTAGCTGGCACAGAGTAAGCAGTGCAAAAACAGCACTTAACAATTATTATTCGTTGAAAGTGCATAATTCCCCACCTCTGAGAAAAATGCCCCACCAGACAAAGGCAATTTCAAAATGACAAAAAAAATTATTACTGAGCAACTGTTTTAACCATGCATTGGATGGCATAAATTTTGAGTATGAGGAAGCTCCTGGAATCTACATCCCCTCCTCATTTTGGGCAGGACCTGCCCCTACAAATCCTGCAAATGTTTCACCCATTGGGTAAATAAATTTCAGACACCAGGGCCTCATTTTTCTGCATGTAATGCTAGTTTTGTTCTATTTGCCACAAGTGAGGTAGAAAAGATCTATCATCTTGGAGGATTTTATCTCCCAAAAGCTTTTTTCACTTCTGGCAAAAGAATCCGATGTTTTAAAGTACTGTAGAATGCTTATCTTGTGGTAAGTGCTTTACACGGATAACCTCAGCTACTCCTCACAGCTTTATGGCGATAGGCAATATAACTCCTTCCACTTTTCAGATAGGAGAACTGGGGTGCAGACTGGTTAGTAACTTGTCATATTCCTAAGTTAGCCATGATAGTCAGGATGTAAACAGGCTGGCTCCAGACTCAGCATTTAAAAAAAAAATTATTTATTTATTTATATTCTCTGAGACTGGGTCTCCCTCTGTCACCCAGGCTGGAGTACAGTGGCGTAACCTTGGTTCACTGCAGCCTTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAGAGTAGCTGGTATGACAGGAGTATACCACTATGAATGGCTAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTCTTAACTAACCACTGGGCTAAGCCGCCTCCACTTGAACCACGTTCTGCAAATAGTTATAGGGAAAAAAATTACATAACTAGAATTTCAATAATATCTCCACCTATCTGGATATGTATATTGTGCCACGTTGGTACCAACTTTTTTGATAAAAAACTAGCCATAGACCCCTGACCTTTTAGAGTGAAGTCTAGAGCAGTTTACACGACAATTTACATGATAATCTTGGGTGGTACAGAAGCCAAATCCAGAGGATGCATCTTCTAGAACTGCATACCCTGCCCAATACAGTAGCCACTAGCCACGCATTATTATTGGGCACTTGAAATATGGCTAGTCAAATTGAGATGTAGTGTAAAATA
Task1_train_3819
This sequence change occurs on Chromosome 2, altering FOXI3 (forkhead box I3). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Craniofacial microsomia 2
ACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCTTGCAATCCTGGTATACAGTGATGACTAAAATAGACAAAGTGACCTAACATCCTGAAGTTTCACTTCCCTTACATGGAAAATGGGGGGTAGTAACAATACCCACCACCCAAGGTTTCTGAGAGGATTAAATGAATACATGACAAGTGCCGAGAACAGTGCCTGGCACACAAGGCTGCTTGTGCCATTTTATTGCCATTAGAATATACCATGTACCAGACAGAGGTGATTTGTGAGCTGCCTATGCATAGCTCAAGGATTTGTGGTGTTGCCTAGGACAGTATGATAAACAACCAAAAAAAAATCTTCAGAGGCAAATGACACAAAGTTGGAGGTTTCCTATAAAAATTCAGATATCTGGCTCTTCTATAAAAATCAGAATGCTGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGCGAAACCCTATCTCTACTAAAAATACAAAACATTAGCTGGATGTGGTGGCAGGCACCTGTAATCCCAGCTACCCGGAAGACTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGCACCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTGTCAAAAAAAACCAAAAAAACAAAATCAGAATGCTGCCAGAGGAGAGAAAGAACCAGCTGTTCCCAGCAGCCTTCTACTAGTCAGTCCCAACTACCCTCTACTGCTTCAGTTGCCAACTGATGTTAGTTTTCTCACCCAGTAACTTCGTTGGCTTGTGTTTTTTTAGCCATCTGTACACACTTGAGCTTGCAATCCTGGCATACAGTGATAAACAAAATAGACATGGTCCCCGCCCTCACGGGGCTCACAGGCTACCTATCACAGAAGACAGTGAAACGGATTTCTCTCTGGAGAGGCCCACATGCAGAGAAACCTGTAAAAGCTCGCTGGGTTGTAGCAAGAGTTATCTACTACACCCTCATTACTCCAAGTGTGGTCAAAGGACCACGAGATCACCCAGGAACTCGACAGAAACGCAGAACTCAGGTCCTACCCCAGACCTACTGACTTGGAATCTGCATTCTAATCAGCATGTGTGCACGCCTCAGGTGTGCATACTCAAGTCTGAGAGTCTGCTCTACACCTCGGAGCCCTCTCGGGGGTAGATGAGGCTGTTCACCATGCTAAAGTTGTGGAAAGGGCTGCTGAAGGGGCTGCTTTGCCCCCCGCTGGTGCTGGCAGGGAAAGGGCTGTAATAGGAAGATCTCTGGCCGGTGCTATTGCTGGTGCTATTGCTCAGTTGCAAGGTGTCTGCTGAGGCCTCTGAGATGGAGGTCGGGGAGAACACGCCGCTGGAGGGCAGCTGGGCCCCCTGGATCCCTAGGTGGCGGCTGCCAGGGAGAGCCCGCTGGGTACTCACACTGCTGCTGACACTCAAGGAGCTGAGGCTGCTGAAGAAAGTGTTGAGACAAGGGGTGGAGGTGAGCATGGGTCCTCCAGGAGATGAGGCAGTACTCTTGGTGCCCTCCGGAGGCTCTGGGGAGTGGGAAGGCCTCAGCAGAGTGGAGGGGCTCTCTTCTTCTGGCTTCCCACCCACTCCAGACCCCAATCCTGAGGAGAGCCCTTCTTCGGACTTTGATGTCCCAGCAGCCACTGTGGAGCCATTGCTGGCCTCAGAGCGGCGCTTTCGCTTCCGACGGAAGTTCCCATTGTCAAACATTTTCTCGCAGTTCGGATCAAGAGTCCAATAATTACCCTTTCCTGAGAAGATGAGAAAGACCAAGTTAGAGAAGGACCTATTCAATGCCTGTGTACTCAGCTTCATTTCTGGGAGGAGAGCAGACTCTCATTAGATGCTGACAAAGATGCTCAATTCACTCTAATATTCAAACCAATCCTCTTTCGGGGAAAATGTTACTCTTTGCTTCAGAGAAAAATCCAGAACAAAGATGTTCTGGCCACCTTTACCTCCTCCTGGTGGTGTCTACTACTTAAATCTGAAGACCTAATTCCATTTCTGAGACACTTATAATTAAATCATGTAACACCTTCACTAATTCTAGATCCAAATTGTATGACCTTGCAAAGTCATGGAATTCTGATGCTACTTAAAGTTGAGCGTTAGACTGGGCCAACATAGTGAGATCTCGTGTCTACAAAAAAAAAAAAAAATTGAGCCTCCGTTTCTTTATTTATAAAATAGAGATAAGGATAGTACTAATTTAGTGGATTGACTGTGAGGATTAACTATTTCAGCATAGTAGCTGGCACAGAGTAAGCAGTGCAAAAACAGCACTTAACAATTATTATTCGTTGAAAGTGCATAATTCCCCACCTCTGAGAAAAATGCCCCACCAGACAAAGGCAATTTCAAAATGACAAAAAAAATTATTACTGAGCAACTGTTTTAACCATGCATTGGATGGCATAAATTTTGAGTATGAGGAAGCTCCTGGAATCTACATCCCCTCCTCATTTTGGGCAGGACCTGCCCCTACAAATCCTGCAAATGTTTCACCCATTGGGTAAATAAATTTCAGACACCAGGGCCTCATTTTTCTGCATGTAATGCTAGTTTTGTTCTATTTGCCACAAGTGAGGTAGAAAAGATCTATCATCTTGGAGGATTTTATCTCCCAAAAGCTTTTTTCACTTCTGGCAAAAGAATCCGATGTTTTAAAGTACTGTAGAATGCTTATCTTGTGGTAAGTGCTTTACACGGATAACCTCAGCTACTCCTCACAGCTTTATGGCGATAGGCAATATAACTCCTTCCACTTTTCAGATAGGAGAACTGGGGTGCAGACTGGTTAGTAACTTGTCATATTCCTAAGTTAGCCATGATAGTCAGGATGTAAACAGGCTGGCTCCAGACTCAGCATTTAAAAAAAAAATTATTTATTTATTTATATTCTCTGAGACTGGGTCTCCCTCTGTCACCCAGGCTGGAGTACAGTGGCGTAACCTTGGTTCACTGCAGCCTTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAGAGTAGCTGGTATGACAGGAGTATACCACTATGAATGGCTAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTCTTAACTAACCACTGGGCTAAGCCGCCTCCACTTGAACCACGTTCTGCAAATAGTTATAGGGAAAAAAATTACATAACTAGAATTTCAATAATATCTCCACCTATCTGGATATGTATATTGTGCCACGTTGGTACCAACTTTTTTGATAAAAAACTAGCCATAGACCCCTGACCTTTTAGAGTGAAGTCTAGAGCAGTTTACACGACAATTTACATGATAATCTTGGGTGGTACAGAAGCCAAATCCAGAGGATGCATCTTCTAGAACTGCATACCCTGCCCAATACAGTAGCCACTAGCCACGCATTATTATTGGGCACTTGAAATATGGCTAGTCAAATTGAGATGTAGTGTAAAATACACA
ACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCTTGCAATCCTGGTATACAGTGATGACTAAAATAGACAAAGTGACCTAACATCCTGAAGTTTCACTTCCCTTACATGGAAAATGGGGGGTAGTAACAATACCCACCACCCAAGGTTTCTGAGAGGATTAAATGAATACATGACAAGTGCCGAGAACAGTGCCTGGCACACAAGGCTGCTTGTGCCATTTTATTGCCATTAGAATATACCATGTACCAGACAGAGGTGATTTGTGAGCTGCCTATGCATAGCTCAAGGATTTGTGGTGTTGCCTAGGACAGTATGATAAACAACCAAAAAAAAATCTTCAGAGGCAAATGACACAAAGTTGGAGGTTTCCTATAAAAATTCAGATATCTGGCTCTTCTATAAAAATCAGAATGCTGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGCGAAACCCTATCTCTACTAAAAATACAAAACATTAGCTGGATGTGGTGGCAGGCACCTGTAATCCCAGCTACCCGGAAGACTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGCACCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTGTCAAAAAAAACCAAAAAAACAAAATCAGAATGCTGCCAGAGGAGAGAAAGAACCAGCTGTTCCCAGCAGCCTTCTACTAGTCAGTCCCAACTACCCTCTACTGCTTCAGTTGCCAACTGATGTTAGTTTTCTCACCCAGTAACTTCGTTGGCTTGTGTTTTTTTAGCCATCTGTACACACTTGAGCTTGCAATCCTGGCATACAGTGATAAACAAAATAGACATGGTCCCCGCCCTCACGGGGCTCACAGGCTACCTATCACAGAAGACAGTGAAACGGATTTCTCTCTGGAGAGGCCCACATGCAGAGAAACCTGTAAAAGCTCGCTGGGTTGTAGCAAGAGTTATCTACTACACCCTCATTACTCCAAGTGTGGTCAAAGGACCACGAGATCACCCAGGAACTCGACAGAAACGCAGAACTCAGGTCCTACCCCAGACCTACTGACTTGGAATCTGCATTCTAATCAGCATGTGTGCACGCCTCAGGTGTGCATACTCAAGTCTGAGAGTCTGCTCTACACCTCGGAGCCCTCTCGGGGGTAGATGAGGCTGTTCACCATGCTAAAGTTGTGGAAAGGGCTGCTGAAGGGGCTGCTTTGCCCCCCGCTGGTGCTGGCAGGGAAAGGGCTGTAATAGGAAGATCTCTGGCCGGTGCTATTGCTGGTGCTATTGCTCAGTTGCAAGGTGTCTGCTGAGGCCTCTGAGATGGAGGTCGGGGAGAACACGCCGCTGGAGGGCAGCTGGGCCCCCTGGATCCCTAGGTGGCGGCTGCCAGGGAGAGCCCGCTGGGTACTCACACTGCTGCTGACACTCAAGGAGCTGAGGCTGCTGAAGAAAGTGTTGAGACAAGGGGTGGAGGTGAGCATGGGTCCTCCAGGAGATGAGGCAGTACTCTTGGTGCCCTCCGGAGGCTCTGGGGAGTGGGAAGGCCTCAGCAGAGTGGAGGGGCTCTCTTCTTCTGGCTTCCCACCCACTCCAGACCCCAATCCTGAGGAGAGCCCTTCTTCGGACTTTGATGTCCCAGCAGCCACTGTGGAGCCATTGCTGGCCTCAGAGCGGCGCTTTCGCTTCCGACGTAAGTTCCCATTGTCAAACATTTTCTCGCAGTTCGGATCAAGAGTCCAATAATTACCCTTTCCTGAGAAGATGAGAAAGACCAAGTTAGAGAAGGACCTATTCAATGCCTGTGTACTCAGCTTCATTTCTGGGAGGAGAGCAGACTCTCATTAGATGCTGACAAAGATGCTCAATTCACTCTAATATTCAAACCAATCCTCTTTCGGGGAAAATGTTACTCTTTGCTTCAGAGAAAAATCCAGAACAAAGATGTTCTGGCCACCTTTACCTCCTCCTGGTGGTGTCTACTACTTAAATCTGAAGACCTAATTCCATTTCTGAGACACTTATAATTAAATCATGTAACACCTTCACTAATTCTAGATCCAAATTGTATGACCTTGCAAAGTCATGGAATTCTGATGCTACTTAAAGTTGAGCGTTAGACTGGGCCAACATAGTGAGATCTCGTGTCTACAAAAAAAAAAAAAAATTGAGCCTCCGTTTCTTTATTTATAAAATAGAGATAAGGATAGTACTAATTTAGTGGATTGACTGTGAGGATTAACTATTTCAGCATAGTAGCTGGCACAGAGTAAGCAGTGCAAAAACAGCACTTAACAATTATTATTCGTTGAAAGTGCATAATTCCCCACCTCTGAGAAAAATGCCCCACCAGACAAAGGCAATTTCAAAATGACAAAAAAAATTATTACTGAGCAACTGTTTTAACCATGCATTGGATGGCATAAATTTTGAGTATGAGGAAGCTCCTGGAATCTACATCCCCTCCTCATTTTGGGCAGGACCTGCCCCTACAAATCCTGCAAATGTTTCACCCATTGGGTAAATAAATTTCAGACACCAGGGCCTCATTTTTCTGCATGTAATGCTAGTTTTGTTCTATTTGCCACAAGTGAGGTAGAAAAGATCTATCATCTTGGAGGATTTTATCTCCCAAAAGCTTTTTTCACTTCTGGCAAAAGAATCCGATGTTTTAAAGTACTGTAGAATGCTTATCTTGTGGTAAGTGCTTTACACGGATAACCTCAGCTACTCCTCACAGCTTTATGGCGATAGGCAATATAACTCCTTCCACTTTTCAGATAGGAGAACTGGGGTGCAGACTGGTTAGTAACTTGTCATATTCCTAAGTTAGCCATGATAGTCAGGATGTAAACAGGCTGGCTCCAGACTCAGCATTTAAAAAAAAAATTATTTATTTATTTATATTCTCTGAGACTGGGTCTCCCTCTGTCACCCAGGCTGGAGTACAGTGGCGTAACCTTGGTTCACTGCAGCCTTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAGAGTAGCTGGTATGACAGGAGTATACCACTATGAATGGCTAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTCTTAACTAACCACTGGGCTAAGCCGCCTCCACTTGAACCACGTTCTGCAAATAGTTATAGGGAAAAAAATTACATAACTAGAATTTCAATAATATCTCCACCTATCTGGATATGTATATTGTGCCACGTTGGTACCAACTTTTTTGATAAAAAACTAGCCATAGACCCCTGACCTTTTAGAGTGAAGTCTAGAGCAGTTTACACGACAATTTACATGATAATCTTGGGTGGTACAGAAGCCAAATCCAGAGGATGCATCTTCTAGAACTGCATACCCTGCCCAATACAGTAGCCACTAGCCACGCATTATTATTGGGCACTTGAAATATGGCTAGTCAAATTGAGATGTAGTGTAAAATACACA
Task1_train_3820
A variant affecting Chromosome 2, within the gene FOXI3 (forkhead box I3), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Craniofacial microsomia
ACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCTTGCAATCCTGGTATACAGTGATGACTAAAATAGACAAAGTGACCTAACATCCTGAAGTTTCACTTCCCTTACATGGAAAATGGGGGGTAGTAACAATACCCACCACCCAAGGTTTCTGAGAGGATTAAATGAATACATGACAAGTGCCGAGAACAGTGCCTGGCACACAAGGCTGCTTGTGCCATTTTATTGCCATTAGAATATACCATGTACCAGACAGAGGTGATTTGTGAGCTGCCTATGCATAGCTCAAGGATTTGTGGTGTTGCCTAGGACAGTATGATAAACAACCAAAAAAAAATCTTCAGAGGCAAATGACACAAAGTTGGAGGTTTCCTATAAAAATTCAGATATCTGGCTCTTCTATAAAAATCAGAATGCTGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGCGAAACCCTATCTCTACTAAAAATACAAAACATTAGCTGGATGTGGTGGCAGGCACCTGTAATCCCAGCTACCCGGAAGACTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGCACCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTGTCAAAAAAAACCAAAAAAACAAAATCAGAATGCTGCCAGAGGAGAGAAAGAACCAGCTGTTCCCAGCAGCCTTCTACTAGTCAGTCCCAACTACCCTCTACTGCTTCAGTTGCCAACTGATGTTAGTTTTCTCACCCAGTAACTTCGTTGGCTTGTGTTTTTTTAGCCATCTGTACACACTTGAGCTTGCAATCCTGGCATACAGTGATAAACAAAATAGACATGGTCCCCGCCCTCACGGGGCTCACAGGCTACCTATCACAGAAGACAGTGAAACGGATTTCTCTCTGGAGAGGCCCACATGCAGAGAAACCTGTAAAAGCTCGCTGGGTTGTAGCAAGAGTTATCTACTACACCCTCATTACTCCAAGTGTGGTCAAAGGACCACGAGATCACCCAGGAACTCGACAGAAACGCAGAACTCAGGTCCTACCCCAGACCTACTGACTTGGAATCTGCATTCTAATCAGCATGTGTGCACGCCTCAGGTGTGCATACTCAAGTCTGAGAGTCTGCTCTACACCTCGGAGCCCTCTCGGGGGTAGATGAGGCTGTTCACCATGCTAAAGTTGTGGAAAGGGCTGCTGAAGGGGCTGCTTTGCCCCCCGCTGGTGCTGGCAGGGAAAGGGCTGTAATAGGAAGATCTCTGGCCGGTGCTATTGCTGGTGCTATTGCTCAGTTGCAAGGTGTCTGCTGAGGCCTCTGAGATGGAGGTCGGGGAGAACACGCCGCTGGAGGGCAGCTGGGCCCCCTGGATCCCTAGGTGGCGGCTGCCAGGGAGAGCCCGCTGGGTACTCACACTGCTGCTGACACTCAAGGAGCTGAGGCTGCTGAAGAAAGTGTTGAGACAAGGGGTGGAGGTGAGCATGGGTCCTCCAGGAGATGAGGCAGTACTCTTGGTGCCCTCCGGAGGCTCTGGGGAGTGGGAAGGCCTCAGCAGAGTGGAGGGGCTCTCTTCTTCTGGCTTCCCACCCACTCCAGACCCCAATCCTGAGGAGAGCCCTTCTTCGGACTTTGATGTCCCAGCAGCCACTGTGGAGCCATTGCTGGCCTCAGAGCGGCGCTTTCGCTTCCGACGGAAGTTCCCATTGTCAAACATTTTCTCGCAGTTCGGATCAAGAGTCCAATAATTACCCTTTCCTGAGAAGATGAGAAAGACCAAGTTAGAGAAGGACCTATTCAATGCCTGTGTACTCAGCTTCATTTCTGGGAGGAGAGCAGACTCTCATTAGATGCTGACAAAGATGCTCAATTCACTCTAATATTCAAACCAATCCTCTTTCGGGGAAAATGTTACTCTTTGCTTCAGAGAAAAATCCAGAACAAAGATGTTCTGGCCACCTTTACCTCCTCCTGGTGGTGTCTACTACTTAAATCTGAAGACCTAATTCCATTTCTGAGACACTTATAATTAAATCATGTAACACCTTCACTAATTCTAGATCCAAATTGTATGACCTTGCAAAGTCATGGAATTCTGATGCTACTTAAAGTTGAGCGTTAGACTGGGCCAACATAGTGAGATCTCGTGTCTACAAAAAAAAAAAAAAATTGAGCCTCCGTTTCTTTATTTATAAAATAGAGATAAGGATAGTACTAATTTAGTGGATTGACTGTGAGGATTAACTATTTCAGCATAGTAGCTGGCACAGAGTAAGCAGTGCAAAAACAGCACTTAACAATTATTATTCGTTGAAAGTGCATAATTCCCCACCTCTGAGAAAAATGCCCCACCAGACAAAGGCAATTTCAAAATGACAAAAAAAATTATTACTGAGCAACTGTTTTAACCATGCATTGGATGGCATAAATTTTGAGTATGAGGAAGCTCCTGGAATCTACATCCCCTCCTCATTTTGGGCAGGACCTGCCCCTACAAATCCTGCAAATGTTTCACCCATTGGGTAAATAAATTTCAGACACCAGGGCCTCATTTTTCTGCATGTAATGCTAGTTTTGTTCTATTTGCCACAAGTGAGGTAGAAAAGATCTATCATCTTGGAGGATTTTATCTCCCAAAAGCTTTTTTCACTTCTGGCAAAAGAATCCGATGTTTTAAAGTACTGTAGAATGCTTATCTTGTGGTAAGTGCTTTACACGGATAACCTCAGCTACTCCTCACAGCTTTATGGCGATAGGCAATATAACTCCTTCCACTTTTCAGATAGGAGAACTGGGGTGCAGACTGGTTAGTAACTTGTCATATTCCTAAGTTAGCCATGATAGTCAGGATGTAAACAGGCTGGCTCCAGACTCAGCATTTAAAAAAAAAATTATTTATTTATTTATATTCTCTGAGACTGGGTCTCCCTCTGTCACCCAGGCTGGAGTACAGTGGCGTAACCTTGGTTCACTGCAGCCTTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAGAGTAGCTGGTATGACAGGAGTATACCACTATGAATGGCTAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTCTTAACTAACCACTGGGCTAAGCCGCCTCCACTTGAACCACGTTCTGCAAATAGTTATAGGGAAAAAAATTACATAACTAGAATTTCAATAATATCTCCACCTATCTGGATATGTATATTGTGCCACGTTGGTACCAACTTTTTTGATAAAAAACTAGCCATAGACCCCTGACCTTTTAGAGTGAAGTCTAGAGCAGTTTACACGACAATTTACATGATAATCTTGGGTGGTACAGAAGCCAAATCCAGAGGATGCATCTTCTAGAACTGCATACCCTGCCCAATACAGTAGCCACTAGCCACGCATTATTATTGGGCACTTGAAATATGGCTAGTCAAATTGAGATGTAGTGTAAAATACACA
ACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCTTGCAATCCTGGTATACAGTGATGACTAAAATAGACAAAGTGACCTAACATCCTGAAGTTTCACTTCCCTTACATGGAAAATGGGGGGTAGTAACAATACCCACCACCCAAGGTTTCTGAGAGGATTAAATGAATACATGACAAGTGCCGAGAACAGTGCCTGGCACACAAGGCTGCTTGTGCCATTTTATTGCCATTAGAATATACCATGTACCAGACAGAGGTGATTTGTGAGCTGCCTATGCATAGCTCAAGGATTTGTGGTGTTGCCTAGGACAGTATGATAAACAACCAAAAAAAAATCTTCAGAGGCAAATGACACAAAGTTGGAGGTTTCCTATAAAAATTCAGATATCTGGCTCTTCTATAAAAATCAGAATGCTGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGCGAAACCCTATCTCTACTAAAAATACAAAACATTAGCTGGATGTGGTGGCAGGCACCTGTAATCCCAGCTACCCGGAAGACTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGCACCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTGTCAAAAAAAACCAAAAAAACAAAATCAGAATGCTGCCAGAGGAGAGAAAGAACCAGCTGTTCCCAGCAGCCTTCTACTAGTCAGTCCCAACTACCCTCTACTGCTTCAGTTGCCAACTGATGTTAGTTTTCTCACCCAGTAACTTCGTTGGCTTGTGTTTTTTTAGCCATCTGTACACACTTGAGCTTGCAATCCTGGCATACAGTGATAAACAAAATAGACATGGTCCCCGCCCTCACGGGGCTCACAGGCTACCTATCACAGAAGACAGTGAAACGGATTTCTCTCTGGAGAGGCCCACATGCAGAGAAACCTGTAAAAGCTCGCTGGGTTGTAGCAAGAGTTATCTACTACACCCTCATTACTCCAAGTGTGGTCAAAGGACCACGAGATCACCCAGGAACTCGACAGAAACGCAGAACTCAGGTCCTACCCCAGACCTACTGACTTGGAATCTGCATTCTAATCAGCATGTGTGCACGCCTCAGGTGTGCATACTCAAGTCTGAGAGTCTGCTCTACACCTCGGAGCCCTCTCGGGGGTAGATGAGGCTGTTCACCATGCTAAAGTTGTGGAAAGGGCTGCTGAAGGGGCTGCTTTGCCCCCCGCTGGTGCTGGCAGGGAAAGGGCTGTAATAGGAAGATCTCTGGCCGGTGCTATTGCTGGTGCTATTGCTCAGTTGCAAGGTGTCTGCTGAGGCCTCTGAGATGGAGGTCGGGGAGAACACGCCGCTGGAGGGCAGCTGGGCCCCCTGGATCCCTAGGTGGCGGCTGCCAGGGAGAGCCCGCTGGGTACTCACACTGCTGCTGACACTCAAGGAGCTGAGGCTGCTGAAGAAAGTGTTGAGACAAGGGGTGGAGGTGAGCATGGGTCCTCCAGGAGATGAGGCAGTACTCTTGGTGCCCTCCGGAGGCTCTGGGGAGTGGGAAGGCCTCAGCAGAGTGGAGGGGCTCTCTTCTTCTGGCTTCCCACCCACTCCAGACCCCAATCCTGAGGAGAGCCCTTCTTCGGACTTTGATGTCCCAGCAGCCACTGTGGAGCCATTGCTGGCCTCAGAGCGGCGCTTTCGCTTCCGACGTAAGTTCCCATTGTCAAACATTTTCTCGCAGTTCGGATCAAGAGTCCAATAATTACCCTTTCCTGAGAAGATGAGAAAGACCAAGTTAGAGAAGGACCTATTCAATGCCTGTGTACTCAGCTTCATTTCTGGGAGGAGAGCAGACTCTCATTAGATGCTGACAAAGATGCTCAATTCACTCTAATATTCAAACCAATCCTCTTTCGGGGAAAATGTTACTCTTTGCTTCAGAGAAAAATCCAGAACAAAGATGTTCTGGCCACCTTTACCTCCTCCTGGTGGTGTCTACTACTTAAATCTGAAGACCTAATTCCATTTCTGAGACACTTATAATTAAATCATGTAACACCTTCACTAATTCTAGATCCAAATTGTATGACCTTGCAAAGTCATGGAATTCTGATGCTACTTAAAGTTGAGCGTTAGACTGGGCCAACATAGTGAGATCTCGTGTCTACAAAAAAAAAAAAAAATTGAGCCTCCGTTTCTTTATTTATAAAATAGAGATAAGGATAGTACTAATTTAGTGGATTGACTGTGAGGATTAACTATTTCAGCATAGTAGCTGGCACAGAGTAAGCAGTGCAAAAACAGCACTTAACAATTATTATTCGTTGAAAGTGCATAATTCCCCACCTCTGAGAAAAATGCCCCACCAGACAAAGGCAATTTCAAAATGACAAAAAAAATTATTACTGAGCAACTGTTTTAACCATGCATTGGATGGCATAAATTTTGAGTATGAGGAAGCTCCTGGAATCTACATCCCCTCCTCATTTTGGGCAGGACCTGCCCCTACAAATCCTGCAAATGTTTCACCCATTGGGTAAATAAATTTCAGACACCAGGGCCTCATTTTTCTGCATGTAATGCTAGTTTTGTTCTATTTGCCACAAGTGAGGTAGAAAAGATCTATCATCTTGGAGGATTTTATCTCCCAAAAGCTTTTTTCACTTCTGGCAAAAGAATCCGATGTTTTAAAGTACTGTAGAATGCTTATCTTGTGGTAAGTGCTTTACACGGATAACCTCAGCTACTCCTCACAGCTTTATGGCGATAGGCAATATAACTCCTTCCACTTTTCAGATAGGAGAACTGGGGTGCAGACTGGTTAGTAACTTGTCATATTCCTAAGTTAGCCATGATAGTCAGGATGTAAACAGGCTGGCTCCAGACTCAGCATTTAAAAAAAAAATTATTTATTTATTTATATTCTCTGAGACTGGGTCTCCCTCTGTCACCCAGGCTGGAGTACAGTGGCGTAACCTTGGTTCACTGCAGCCTTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAGAGTAGCTGGTATGACAGGAGTATACCACTATGAATGGCTAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTCTTAACTAACCACTGGGCTAAGCCGCCTCCACTTGAACCACGTTCTGCAAATAGTTATAGGGAAAAAAATTACATAACTAGAATTTCAATAATATCTCCACCTATCTGGATATGTATATTGTGCCACGTTGGTACCAACTTTTTTGATAAAAAACTAGCCATAGACCCCTGACCTTTTAGAGTGAAGTCTAGAGCAGTTTACACGACAATTTACATGATAATCTTGGGTGGTACAGAAGCCAAATCCAGAGGATGCATCTTCTAGAACTGCATACCCTGCCCAATACAGTAGCCACTAGCCACGCATTATTATTGGGCACTTGAAATATGGCTAGTCAAATTGAGATGTAGTGTAAAATACACA
Task1_train_3821
A variant on Chromosome 2 in gene FOXI3 (forkhead box I3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Craniofacial microsomia 2
TAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCTTGCAATCCTGGTATACAGTGATGACTAAAATAGACAAAGTGACCTAACATCCTGAAGTTTCACTTCCCTTACATGGAAAATGGGGGGTAGTAACAATACCCACCACCCAAGGTTTCTGAGAGGATTAAATGAATACATGACAAGTGCCGAGAACAGTGCCTGGCACACAAGGCTGCTTGTGCCATTTTATTGCCATTAGAATATACCATGTACCAGACAGAGGTGATTTGTGAGCTGCCTATGCATAGCTCAAGGATTTGTGGTGTTGCCTAGGACAGTATGATAAACAACCAAAAAAAAATCTTCAGAGGCAAATGACACAAAGTTGGAGGTTTCCTATAAAAATTCAGATATCTGGCTCTTCTATAAAAATCAGAATGCTGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGCGAAACCCTATCTCTACTAAAAATACAAAACATTAGCTGGATGTGGTGGCAGGCACCTGTAATCCCAGCTACCCGGAAGACTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGCACCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTGTCAAAAAAAACCAAAAAAACAAAATCAGAATGCTGCCAGAGGAGAGAAAGAACCAGCTGTTCCCAGCAGCCTTCTACTAGTCAGTCCCAACTACCCTCTACTGCTTCAGTTGCCAACTGATGTTAGTTTTCTCACCCAGTAACTTCGTTGGCTTGTGTTTTTTTAGCCATCTGTACACACTTGAGCTTGCAATCCTGGCATACAGTGATAAACAAAATAGACATGGTCCCCGCCCTCACGGGGCTCACAGGCTACCTATCACAGAAGACAGTGAAACGGATTTCTCTCTGGAGAGGCCCACATGCAGAGAAACCTGTAAAAGCTCGCTGGGTTGTAGCAAGAGTTATCTACTACACCCTCATTACTCCAAGTGTGGTCAAAGGACCACGAGATCACCCAGGAACTCGACAGAAACGCAGAACTCAGGTCCTACCCCAGACCTACTGACTTGGAATCTGCATTCTAATCAGCATGTGTGCACGCCTCAGGTGTGCATACTCAAGTCTGAGAGTCTGCTCTACACCTCGGAGCCCTCTCGGGGGTAGATGAGGCTGTTCACCATGCTAAAGTTGTGGAAAGGGCTGCTGAAGGGGCTGCTTTGCCCCCCGCTGGTGCTGGCAGGGAAAGGGCTGTAATAGGAAGATCTCTGGCCGGTGCTATTGCTGGTGCTATTGCTCAGTTGCAAGGTGTCTGCTGAGGCCTCTGAGATGGAGGTCGGGGAGAACACGCCGCTGGAGGGCAGCTGGGCCCCCTGGATCCCTAGGTGGCGGCTGCCAGGGAGAGCCCGCTGGGTACTCACACTGCTGCTGACACTCAAGGAGCTGAGGCTGCTGAAGAAAGTGTTGAGACAAGGGGTGGAGGTGAGCATGGGTCCTCCAGGAGATGAGGCAGTACTCTTGGTGCCCTCCGGAGGCTCTGGGGAGTGGGAAGGCCTCAGCAGAGTGGAGGGGCTCTCTTCTTCTGGCTTCCCACCCACTCCAGACCCCAATCCTGAGGAGAGCCCTTCTTCGGACTTTGATGTCCCAGCAGCCACTGTGGAGCCATTGCTGGCCTCAGAGCGGCGCTTTCGCTTCCGACGGAAGTTCCCATTGTCAAACATTTTCTCGCAGTTCGGATCAAGAGTCCAATAATTACCCTTTCCTGAGAAGATGAGAAAGACCAAGTTAGAGAAGGACCTATTCAATGCCTGTGTACTCAGCTTCATTTCTGGGAGGAGAGCAGACTCTCATTAGATGCTGACAAAGATGCTCAATTCACTCTAATATTCAAACCAATCCTCTTTCGGGGAAAATGTTACTCTTTGCTTCAGAGAAAAATCCAGAACAAAGATGTTCTGGCCACCTTTACCTCCTCCTGGTGGTGTCTACTACTTAAATCTGAAGACCTAATTCCATTTCTGAGACACTTATAATTAAATCATGTAACACCTTCACTAATTCTAGATCCAAATTGTATGACCTTGCAAAGTCATGGAATTCTGATGCTACTTAAAGTTGAGCGTTAGACTGGGCCAACATAGTGAGATCTCGTGTCTACAAAAAAAAAAAAAAATTGAGCCTCCGTTTCTTTATTTATAAAATAGAGATAAGGATAGTACTAATTTAGTGGATTGACTGTGAGGATTAACTATTTCAGCATAGTAGCTGGCACAGAGTAAGCAGTGCAAAAACAGCACTTAACAATTATTATTCGTTGAAAGTGCATAATTCCCCACCTCTGAGAAAAATGCCCCACCAGACAAAGGCAATTTCAAAATGACAAAAAAAATTATTACTGAGCAACTGTTTTAACCATGCATTGGATGGCATAAATTTTGAGTATGAGGAAGCTCCTGGAATCTACATCCCCTCCTCATTTTGGGCAGGACCTGCCCCTACAAATCCTGCAAATGTTTCACCCATTGGGTAAATAAATTTCAGACACCAGGGCCTCATTTTTCTGCATGTAATGCTAGTTTTGTTCTATTTGCCACAAGTGAGGTAGAAAAGATCTATCATCTTGGAGGATTTTATCTCCCAAAAGCTTTTTTCACTTCTGGCAAAAGAATCCGATGTTTTAAAGTACTGTAGAATGCTTATCTTGTGGTAAGTGCTTTACACGGATAACCTCAGCTACTCCTCACAGCTTTATGGCGATAGGCAATATAACTCCTTCCACTTTTCAGATAGGAGAACTGGGGTGCAGACTGGTTAGTAACTTGTCATATTCCTAAGTTAGCCATGATAGTCAGGATGTAAACAGGCTGGCTCCAGACTCAGCATTTAAAAAAAAAATTATTTATTTATTTATATTCTCTGAGACTGGGTCTCCCTCTGTCACCCAGGCTGGAGTACAGTGGCGTAACCTTGGTTCACTGCAGCCTTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAGAGTAGCTGGTATGACAGGAGTATACCACTATGAATGGCTAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTCTTAACTAACCACTGGGCTAAGCCGCCTCCACTTGAACCACGTTCTGCAAATAGTTATAGGGAAAAAAATTACATAACTAGAATTTCAATAATATCTCCACCTATCTGGATATGTATATTGTGCCACGTTGGTACCAACTTTTTTGATAAAAAACTAGCCATAGACCCCTGACCTTTTAGAGTGAAGTCTAGAGCAGTTTACACGACAATTTACATGATAATCTTGGGTGGTACAGAAGCCAAATCCAGAGGATGCATCTTCTAGAACTGCATACCCTGCCCAATACAGTAGCCACTAGCCACGCATTATTATTGGGCACTTGAAATATGGCTAGTCAAATTGAGATGTAGTGTAAAATACACAAG
TAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCTTGCAATCCTGGTATACAGTGATGACTAAAATAGACAAAGTGACCTAACATCCTGAAGTTTCACTTCCCTTACATGGAAAATGGGGGGTAGTAACAATACCCACCACCCAAGGTTTCTGAGAGGATTAAATGAATACATGACAAGTGCCGAGAACAGTGCCTGGCACACAAGGCTGCTTGTGCCATTTTATTGCCATTAGAATATACCATGTACCAGACAGAGGTGATTTGTGAGCTGCCTATGCATAGCTCAAGGATTTGTGGTGTTGCCTAGGACAGTATGATAAACAACCAAAAAAAAATCTTCAGAGGCAAATGACACAAAGTTGGAGGTTTCCTATAAAAATTCAGATATCTGGCTCTTCTATAAAAATCAGAATGCTGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGCGAAACCCTATCTCTACTAAAAATACAAAACATTAGCTGGATGTGGTGGCAGGCACCTGTAATCCCAGCTACCCGGAAGACTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGCACCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTGTCAAAAAAAACCAAAAAAACAAAATCAGAATGCTGCCAGAGGAGAGAAAGAACCAGCTGTTCCCAGCAGCCTTCTACTAGTCAGTCCCAACTACCCTCTACTGCTTCAGTTGCCAACTGATGTTAGTTTTCTCACCCAGTAACTTCGTTGGCTTGTGTTTTTTTAGCCATCTGTACACACTTGAGCTTGCAATCCTGGCATACAGTGATAAACAAAATAGACATGGTCCCCGCCCTCACGGGGCTCACAGGCTACCTATCACAGAAGACAGTGAAACGGATTTCTCTCTGGAGAGGCCCACATGCAGAGAAACCTGTAAAAGCTCGCTGGGTTGTAGCAAGAGTTATCTACTACACCCTCATTACTCCAAGTGTGGTCAAAGGACCACGAGATCACCCAGGAACTCGACAGAAACGCAGAACTCAGGTCCTACCCCAGACCTACTGACTTGGAATCTGCATTCTAATCAGCATGTGTGCACGCCTCAGGTGTGCATACTCAAGTCTGAGAGTCTGCTCTACACCTCGGAGCCCTCTCGGGGGTAGATGAGGCTGTTCACCATGCTAAAGTTGTGGAAAGGGCTGCTGAAGGGGCTGCTTTGCCCCCCGCTGGTGCTGGCAGGGAAAGGGCTGTAATAGGAAGATCTCTGGCCGGTGCTATTGCTGGTGCTATTGCTCAGTTGCAAGGTGTCTGCTGAGGCCTCTGAGATGGAGGTCGGGGAGAACACGCCGCTGGAGGGCAGCTGGGCCCCCTGGATCCCTAGGTGGCGGCTGCCAGGGAGAGCCCGCTGGGTACTCACACTGCTGCTGACACTCAAGGAGCTGAGGCTGCTGAAGAAAGTGTTGAGACAAGGGGTGGAGGTGAGCATGGGTCCTCCAGGAGATGAGGCAGTACTCTTGGTGCCCTCCGGAGGCTCTGGGGAGTGGGAAGGCCTCAGCAGAGTGGAGGGGCTCTCTTCTTCTGGCTTCCCACCCACTCCAGACCCCAATCCTGAGGAGAGCCCTTCTTCGGACTTTGATGTCCCAGCAGCCACTGTGGAGCCATTGCTGGCCTCAGAGCGGCGCTTTCGCTTCCGACGGACGTTCCCATTGTCAAACATTTTCTCGCAGTTCGGATCAAGAGTCCAATAATTACCCTTTCCTGAGAAGATGAGAAAGACCAAGTTAGAGAAGGACCTATTCAATGCCTGTGTACTCAGCTTCATTTCTGGGAGGAGAGCAGACTCTCATTAGATGCTGACAAAGATGCTCAATTCACTCTAATATTCAAACCAATCCTCTTTCGGGGAAAATGTTACTCTTTGCTTCAGAGAAAAATCCAGAACAAAGATGTTCTGGCCACCTTTACCTCCTCCTGGTGGTGTCTACTACTTAAATCTGAAGACCTAATTCCATTTCTGAGACACTTATAATTAAATCATGTAACACCTTCACTAATTCTAGATCCAAATTGTATGACCTTGCAAAGTCATGGAATTCTGATGCTACTTAAAGTTGAGCGTTAGACTGGGCCAACATAGTGAGATCTCGTGTCTACAAAAAAAAAAAAAAATTGAGCCTCCGTTTCTTTATTTATAAAATAGAGATAAGGATAGTACTAATTTAGTGGATTGACTGTGAGGATTAACTATTTCAGCATAGTAGCTGGCACAGAGTAAGCAGTGCAAAAACAGCACTTAACAATTATTATTCGTTGAAAGTGCATAATTCCCCACCTCTGAGAAAAATGCCCCACCAGACAAAGGCAATTTCAAAATGACAAAAAAAATTATTACTGAGCAACTGTTTTAACCATGCATTGGATGGCATAAATTTTGAGTATGAGGAAGCTCCTGGAATCTACATCCCCTCCTCATTTTGGGCAGGACCTGCCCCTACAAATCCTGCAAATGTTTCACCCATTGGGTAAATAAATTTCAGACACCAGGGCCTCATTTTTCTGCATGTAATGCTAGTTTTGTTCTATTTGCCACAAGTGAGGTAGAAAAGATCTATCATCTTGGAGGATTTTATCTCCCAAAAGCTTTTTTCACTTCTGGCAAAAGAATCCGATGTTTTAAAGTACTGTAGAATGCTTATCTTGTGGTAAGTGCTTTACACGGATAACCTCAGCTACTCCTCACAGCTTTATGGCGATAGGCAATATAACTCCTTCCACTTTTCAGATAGGAGAACTGGGGTGCAGACTGGTTAGTAACTTGTCATATTCCTAAGTTAGCCATGATAGTCAGGATGTAAACAGGCTGGCTCCAGACTCAGCATTTAAAAAAAAAATTATTTATTTATTTATATTCTCTGAGACTGGGTCTCCCTCTGTCACCCAGGCTGGAGTACAGTGGCGTAACCTTGGTTCACTGCAGCCTTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAGAGTAGCTGGTATGACAGGAGTATACCACTATGAATGGCTAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTCTTAACTAACCACTGGGCTAAGCCGCCTCCACTTGAACCACGTTCTGCAAATAGTTATAGGGAAAAAAATTACATAACTAGAATTTCAATAATATCTCCACCTATCTGGATATGTATATTGTGCCACGTTGGTACCAACTTTTTTGATAAAAAACTAGCCATAGACCCCTGACCTTTTAGAGTGAAGTCTAGAGCAGTTTACACGACAATTTACATGATAATCTTGGGTGGTACAGAAGCCAAATCCAGAGGATGCATCTTCTAGAACTGCATACCCTGCCCAATACAGTAGCCACTAGCCACGCATTATTATTGGGCACTTGAAATATGGCTAGTCAAATTGAGATGTAGTGTAAAATACACAAG
Task1_train_3822
Mutation context: Chromosome 2, Gene FOXI3 (forkhead box I3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Craniofacial microsomia
TAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCTTGCAATCCTGGTATACAGTGATGACTAAAATAGACAAAGTGACCTAACATCCTGAAGTTTCACTTCCCTTACATGGAAAATGGGGGGTAGTAACAATACCCACCACCCAAGGTTTCTGAGAGGATTAAATGAATACATGACAAGTGCCGAGAACAGTGCCTGGCACACAAGGCTGCTTGTGCCATTTTATTGCCATTAGAATATACCATGTACCAGACAGAGGTGATTTGTGAGCTGCCTATGCATAGCTCAAGGATTTGTGGTGTTGCCTAGGACAGTATGATAAACAACCAAAAAAAAATCTTCAGAGGCAAATGACACAAAGTTGGAGGTTTCCTATAAAAATTCAGATATCTGGCTCTTCTATAAAAATCAGAATGCTGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGCGAAACCCTATCTCTACTAAAAATACAAAACATTAGCTGGATGTGGTGGCAGGCACCTGTAATCCCAGCTACCCGGAAGACTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGCACCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTGTCAAAAAAAACCAAAAAAACAAAATCAGAATGCTGCCAGAGGAGAGAAAGAACCAGCTGTTCCCAGCAGCCTTCTACTAGTCAGTCCCAACTACCCTCTACTGCTTCAGTTGCCAACTGATGTTAGTTTTCTCACCCAGTAACTTCGTTGGCTTGTGTTTTTTTAGCCATCTGTACACACTTGAGCTTGCAATCCTGGCATACAGTGATAAACAAAATAGACATGGTCCCCGCCCTCACGGGGCTCACAGGCTACCTATCACAGAAGACAGTGAAACGGATTTCTCTCTGGAGAGGCCCACATGCAGAGAAACCTGTAAAAGCTCGCTGGGTTGTAGCAAGAGTTATCTACTACACCCTCATTACTCCAAGTGTGGTCAAAGGACCACGAGATCACCCAGGAACTCGACAGAAACGCAGAACTCAGGTCCTACCCCAGACCTACTGACTTGGAATCTGCATTCTAATCAGCATGTGTGCACGCCTCAGGTGTGCATACTCAAGTCTGAGAGTCTGCTCTACACCTCGGAGCCCTCTCGGGGGTAGATGAGGCTGTTCACCATGCTAAAGTTGTGGAAAGGGCTGCTGAAGGGGCTGCTTTGCCCCCCGCTGGTGCTGGCAGGGAAAGGGCTGTAATAGGAAGATCTCTGGCCGGTGCTATTGCTGGTGCTATTGCTCAGTTGCAAGGTGTCTGCTGAGGCCTCTGAGATGGAGGTCGGGGAGAACACGCCGCTGGAGGGCAGCTGGGCCCCCTGGATCCCTAGGTGGCGGCTGCCAGGGAGAGCCCGCTGGGTACTCACACTGCTGCTGACACTCAAGGAGCTGAGGCTGCTGAAGAAAGTGTTGAGACAAGGGGTGGAGGTGAGCATGGGTCCTCCAGGAGATGAGGCAGTACTCTTGGTGCCCTCCGGAGGCTCTGGGGAGTGGGAAGGCCTCAGCAGAGTGGAGGGGCTCTCTTCTTCTGGCTTCCCACCCACTCCAGACCCCAATCCTGAGGAGAGCCCTTCTTCGGACTTTGATGTCCCAGCAGCCACTGTGGAGCCATTGCTGGCCTCAGAGCGGCGCTTTCGCTTCCGACGGAAGTTCCCATTGTCAAACATTTTCTCGCAGTTCGGATCAAGAGTCCAATAATTACCCTTTCCTGAGAAGATGAGAAAGACCAAGTTAGAGAAGGACCTATTCAATGCCTGTGTACTCAGCTTCATTTCTGGGAGGAGAGCAGACTCTCATTAGATGCTGACAAAGATGCTCAATTCACTCTAATATTCAAACCAATCCTCTTTCGGGGAAAATGTTACTCTTTGCTTCAGAGAAAAATCCAGAACAAAGATGTTCTGGCCACCTTTACCTCCTCCTGGTGGTGTCTACTACTTAAATCTGAAGACCTAATTCCATTTCTGAGACACTTATAATTAAATCATGTAACACCTTCACTAATTCTAGATCCAAATTGTATGACCTTGCAAAGTCATGGAATTCTGATGCTACTTAAAGTTGAGCGTTAGACTGGGCCAACATAGTGAGATCTCGTGTCTACAAAAAAAAAAAAAAATTGAGCCTCCGTTTCTTTATTTATAAAATAGAGATAAGGATAGTACTAATTTAGTGGATTGACTGTGAGGATTAACTATTTCAGCATAGTAGCTGGCACAGAGTAAGCAGTGCAAAAACAGCACTTAACAATTATTATTCGTTGAAAGTGCATAATTCCCCACCTCTGAGAAAAATGCCCCACCAGACAAAGGCAATTTCAAAATGACAAAAAAAATTATTACTGAGCAACTGTTTTAACCATGCATTGGATGGCATAAATTTTGAGTATGAGGAAGCTCCTGGAATCTACATCCCCTCCTCATTTTGGGCAGGACCTGCCCCTACAAATCCTGCAAATGTTTCACCCATTGGGTAAATAAATTTCAGACACCAGGGCCTCATTTTTCTGCATGTAATGCTAGTTTTGTTCTATTTGCCACAAGTGAGGTAGAAAAGATCTATCATCTTGGAGGATTTTATCTCCCAAAAGCTTTTTTCACTTCTGGCAAAAGAATCCGATGTTTTAAAGTACTGTAGAATGCTTATCTTGTGGTAAGTGCTTTACACGGATAACCTCAGCTACTCCTCACAGCTTTATGGCGATAGGCAATATAACTCCTTCCACTTTTCAGATAGGAGAACTGGGGTGCAGACTGGTTAGTAACTTGTCATATTCCTAAGTTAGCCATGATAGTCAGGATGTAAACAGGCTGGCTCCAGACTCAGCATTTAAAAAAAAAATTATTTATTTATTTATATTCTCTGAGACTGGGTCTCCCTCTGTCACCCAGGCTGGAGTACAGTGGCGTAACCTTGGTTCACTGCAGCCTTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAGAGTAGCTGGTATGACAGGAGTATACCACTATGAATGGCTAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTCTTAACTAACCACTGGGCTAAGCCGCCTCCACTTGAACCACGTTCTGCAAATAGTTATAGGGAAAAAAATTACATAACTAGAATTTCAATAATATCTCCACCTATCTGGATATGTATATTGTGCCACGTTGGTACCAACTTTTTTGATAAAAAACTAGCCATAGACCCCTGACCTTTTAGAGTGAAGTCTAGAGCAGTTTACACGACAATTTACATGATAATCTTGGGTGGTACAGAAGCCAAATCCAGAGGATGCATCTTCTAGAACTGCATACCCTGCCCAATACAGTAGCCACTAGCCACGCATTATTATTGGGCACTTGAAATATGGCTAGTCAAATTGAGATGTAGTGTAAAATACACAAG
TAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCTTGCAATCCTGGTATACAGTGATGACTAAAATAGACAAAGTGACCTAACATCCTGAAGTTTCACTTCCCTTACATGGAAAATGGGGGGTAGTAACAATACCCACCACCCAAGGTTTCTGAGAGGATTAAATGAATACATGACAAGTGCCGAGAACAGTGCCTGGCACACAAGGCTGCTTGTGCCATTTTATTGCCATTAGAATATACCATGTACCAGACAGAGGTGATTTGTGAGCTGCCTATGCATAGCTCAAGGATTTGTGGTGTTGCCTAGGACAGTATGATAAACAACCAAAAAAAAATCTTCAGAGGCAAATGACACAAAGTTGGAGGTTTCCTATAAAAATTCAGATATCTGGCTCTTCTATAAAAATCAGAATGCTGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGCGAAACCCTATCTCTACTAAAAATACAAAACATTAGCTGGATGTGGTGGCAGGCACCTGTAATCCCAGCTACCCGGAAGACTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGCACCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTGTCAAAAAAAACCAAAAAAACAAAATCAGAATGCTGCCAGAGGAGAGAAAGAACCAGCTGTTCCCAGCAGCCTTCTACTAGTCAGTCCCAACTACCCTCTACTGCTTCAGTTGCCAACTGATGTTAGTTTTCTCACCCAGTAACTTCGTTGGCTTGTGTTTTTTTAGCCATCTGTACACACTTGAGCTTGCAATCCTGGCATACAGTGATAAACAAAATAGACATGGTCCCCGCCCTCACGGGGCTCACAGGCTACCTATCACAGAAGACAGTGAAACGGATTTCTCTCTGGAGAGGCCCACATGCAGAGAAACCTGTAAAAGCTCGCTGGGTTGTAGCAAGAGTTATCTACTACACCCTCATTACTCCAAGTGTGGTCAAAGGACCACGAGATCACCCAGGAACTCGACAGAAACGCAGAACTCAGGTCCTACCCCAGACCTACTGACTTGGAATCTGCATTCTAATCAGCATGTGTGCACGCCTCAGGTGTGCATACTCAAGTCTGAGAGTCTGCTCTACACCTCGGAGCCCTCTCGGGGGTAGATGAGGCTGTTCACCATGCTAAAGTTGTGGAAAGGGCTGCTGAAGGGGCTGCTTTGCCCCCCGCTGGTGCTGGCAGGGAAAGGGCTGTAATAGGAAGATCTCTGGCCGGTGCTATTGCTGGTGCTATTGCTCAGTTGCAAGGTGTCTGCTGAGGCCTCTGAGATGGAGGTCGGGGAGAACACGCCGCTGGAGGGCAGCTGGGCCCCCTGGATCCCTAGGTGGCGGCTGCCAGGGAGAGCCCGCTGGGTACTCACACTGCTGCTGACACTCAAGGAGCTGAGGCTGCTGAAGAAAGTGTTGAGACAAGGGGTGGAGGTGAGCATGGGTCCTCCAGGAGATGAGGCAGTACTCTTGGTGCCCTCCGGAGGCTCTGGGGAGTGGGAAGGCCTCAGCAGAGTGGAGGGGCTCTCTTCTTCTGGCTTCCCACCCACTCCAGACCCCAATCCTGAGGAGAGCCCTTCTTCGGACTTTGATGTCCCAGCAGCCACTGTGGAGCCATTGCTGGCCTCAGAGCGGCGCTTTCGCTTCCGACGGACGTTCCCATTGTCAAACATTTTCTCGCAGTTCGGATCAAGAGTCCAATAATTACCCTTTCCTGAGAAGATGAGAAAGACCAAGTTAGAGAAGGACCTATTCAATGCCTGTGTACTCAGCTTCATTTCTGGGAGGAGAGCAGACTCTCATTAGATGCTGACAAAGATGCTCAATTCACTCTAATATTCAAACCAATCCTCTTTCGGGGAAAATGTTACTCTTTGCTTCAGAGAAAAATCCAGAACAAAGATGTTCTGGCCACCTTTACCTCCTCCTGGTGGTGTCTACTACTTAAATCTGAAGACCTAATTCCATTTCTGAGACACTTATAATTAAATCATGTAACACCTTCACTAATTCTAGATCCAAATTGTATGACCTTGCAAAGTCATGGAATTCTGATGCTACTTAAAGTTGAGCGTTAGACTGGGCCAACATAGTGAGATCTCGTGTCTACAAAAAAAAAAAAAAATTGAGCCTCCGTTTCTTTATTTATAAAATAGAGATAAGGATAGTACTAATTTAGTGGATTGACTGTGAGGATTAACTATTTCAGCATAGTAGCTGGCACAGAGTAAGCAGTGCAAAAACAGCACTTAACAATTATTATTCGTTGAAAGTGCATAATTCCCCACCTCTGAGAAAAATGCCCCACCAGACAAAGGCAATTTCAAAATGACAAAAAAAATTATTACTGAGCAACTGTTTTAACCATGCATTGGATGGCATAAATTTTGAGTATGAGGAAGCTCCTGGAATCTACATCCCCTCCTCATTTTGGGCAGGACCTGCCCCTACAAATCCTGCAAATGTTTCACCCATTGGGTAAATAAATTTCAGACACCAGGGCCTCATTTTTCTGCATGTAATGCTAGTTTTGTTCTATTTGCCACAAGTGAGGTAGAAAAGATCTATCATCTTGGAGGATTTTATCTCCCAAAAGCTTTTTTCACTTCTGGCAAAAGAATCCGATGTTTTAAAGTACTGTAGAATGCTTATCTTGTGGTAAGTGCTTTACACGGATAACCTCAGCTACTCCTCACAGCTTTATGGCGATAGGCAATATAACTCCTTCCACTTTTCAGATAGGAGAACTGGGGTGCAGACTGGTTAGTAACTTGTCATATTCCTAAGTTAGCCATGATAGTCAGGATGTAAACAGGCTGGCTCCAGACTCAGCATTTAAAAAAAAAATTATTTATTTATTTATATTCTCTGAGACTGGGTCTCCCTCTGTCACCCAGGCTGGAGTACAGTGGCGTAACCTTGGTTCACTGCAGCCTTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAGAGTAGCTGGTATGACAGGAGTATACCACTATGAATGGCTAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTCTTAACTAACCACTGGGCTAAGCCGCCTCCACTTGAACCACGTTCTGCAAATAGTTATAGGGAAAAAAATTACATAACTAGAATTTCAATAATATCTCCACCTATCTGGATATGTATATTGTGCCACGTTGGTACCAACTTTTTTGATAAAAAACTAGCCATAGACCCCTGACCTTTTAGAGTGAAGTCTAGAGCAGTTTACACGACAATTTACATGATAATCTTGGGTGGTACAGAAGCCAAATCCAGAGGATGCATCTTCTAGAACTGCATACCCTGCCCAATACAGTAGCCACTAGCCACGCATTATTATTGGGCACTTGAAATATGGCTAGTCAAATTGAGATGTAGTGTAAAATACACAAG
Task1_train_3823
The variant affects gene EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; not provided
TCTACTTGCCGAACTCTCACAATTTAAAATTCAGTTCAAATATGACTTCATTTATGATGTCCTCCTAGATCATCACAAACAGATTTAGTGATTTGGTTCATGGCTTTCTTCTTACATGCTTGTTTTACCCAGTAGTATCTTTCCCATAGACTTTAAGCTTCTCCAGGATAGGAGCAGTCTTTTTATTTCTCCCAAAGCCTGAAATATTGTCCTGCACACAGCTGTTCCGAATAAATGTTTAATGAACAGTGAATAACTTCAGTAGTAGACTACCTCATGGGAGTTGTTGGATCCTTTATTCTTTCTCTCACTGCCTGCTGGTGTTGACAGTCACTGATATATTAGTATTTTTATTAGCAAAGGTATTAAAGTAGCCTTTAGCATTTGTTAATCACCTAGTAAATTTTGCTTTGTTTATGAAATTGACTGTTTTTACCTGTTCCCCACCATCCTGAAGCAGCTGGTTTGACAGAAAGGTAGAATGGCCTTTTAAGACTCCATTACACTGCCAGGTAGGTACCTTGCAGGGCTGGGCCAGGGTTCTCCAGAAAGCTGGATATGCTCTGAATCAGTGTCTAATATATTATAGCATGGTTTCTCCCATAGCCAGTATTTACAGGTCCAGGGATCAAGGGATGGAAATGCGAGTGGCATCACCCACCATTACCACCTAGTGATCCACTGGCAACATTTTTGCTTCCTGTTCCTGTGACCTTATGTTCGGCAGGCCTAGAGGTCTTTGTCTAAGGGAGAGGAACACTTCCACCAGGAGATACAACAGCAACTTTGAACTCCTCATGCCTTCCAATCAACAAAGAAGACAGCTACTGTGCTGGCTGGATGACTAATCCTGACTACTAAGGGGAAATTGGATTGCTGTTTCACAGTGGAGGTGTAAGAAAGAGTAGGTCTGAAATACATGAGATCCCTTAGGGATCTCTTTGTATAATCATGCCTTGTGATTAAGGTCAATGGAAAACTACAACAATCCAATCCAGGCAGAACTACCAATCTCCCAGACCCTTCAGGACTGTGGATTTGGGTCACCCTACCAGATATAGAATTACAACCGGCTGAGGTGTTGTTCTCCAATGGGAAAGGGAATATGGGATGGATAGAGGAGGAAGGTACTTATAACTACCAGCTGTGACCACATGACAGGTATCAAAAATGAGAACTGTAATTGTCACAAGTATTTCCTTAATTTGTTGTGAATATGCTTGTGCATCTATATCTATATAGAAGTATATATATAAAGATATATGCCTATGTATAAGATATATATGCACATCTTGTCATTTCTGTTTCCTTGGAGGGCCCCAATATACATATTTATCTATTATTTTCAATCTTTTCTGCCATAAAATCATTACCCTAGATATTAAGCAGTATAGTTCCACGTCTTTTCCTTGTCCCCATATCACTAAAGTGATAAGAAGTATGCTATCAAGACAAAGAGAAAAATAGGTATAATCCATGTAATATGAAAAATAAACCATAACACCATTTCCAGTTATCACAATGCATCAAAGGTGACATTTTATACTTGAGAGATTGCTAATAGCTTCTTTACTTTTATTTAAACTGCCTACTTTTAGCTAATCCATCTCCCCCTTCTGCTTTTAAAAACTATCTGTTCTATTAGTGTTTTTTTCCCTATATTTCTACTTCCTATTACAGATAGAACAATAATGAAAATAAATGAGGATTCCGAAACGTGGAGACTCATATCACACTCTTATAAACCTAATTATTATCTGGTACTATAAATGCTAATCCTAGTACATAGTAGACCCTAAATAACTAAGTTACTTGAATAAGAACTTAATTTGGTAGCTGAAATTCTAAATTCCTATAACACTCTATTTTTATCTTTCTTAGGGTATATACCACTTTTAATACATTTAAGTTACCTGAATTTATTTATTTATTGAGGGTTAAGCCTATGTTTTATTTTTCTAGATATCCACACATTAAAAAAAAAGTTAAACAAGATCTTAGGTCATTTCTTCTTTGATTCAGATGGTTGTATTTTATAAGACTCTTACCGTGATATATATCCAGAGTTTTTTATGTCATTCCAGCTACTGTCATTGGCTTCACCACTTACAGAATCATATTTATTTTCAGTTTGACACTGAGTTTCAGACTCCTTCCTTTGCTGATAAGGTGAAAAACAAAATCACTACCAGTACAAAGCTGAACTGAAGTTAGCTAACAATTTTAGGTTATAAAATAAACAACACTGAAAAATACATAAGTAGCATCAAGAAAAATAAAAGCATTATGAAAACAAAGTGCAGCATTTTGCTTTATTATAAAAGAAAAAAAGTTTATCTTCCCACTGCTATCCCTCCAGTCTTTGAGGGGATTTTGTTTCTTTATAATGTGGGTATGTCATATGTACAGCATGATACATAACTAGATAGAAAGACAATGCACACATGTAAGCATAAACACAAACTCCTGGGCAAGACTAGAGTGATTTCTTTTGACAAAATAAGGTAGGGAAAAAAAGCAAACAAACAAAAAACCCAGTAACAATAACAACAACAACAAAAAGACTAGAGAGATTTCCTTCCTAACCAGTTTCATAGATTGCATTAAAATGCTTTTAAGAACAGGAAATTAAATCAGGCAATGCCTCTTTACCAACATCTCCTAAAAGATGTTTTAGAGGATGTTAATAATTATCATGGTCAAATTGGGGCACTGTGGGTCACCTGTTTAGTCACTGATTCTTTCAACAAATCTTTACTGAGCTCCAATTATGTGCCAAGCACTGTGTAAGGGGCTGAGGAGATGGTGGTAAACAGTGTAGACTGGTTCTTGTCCTTAAGAATGTACAGTCTAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGAAAGCTGAGGTGGGCAGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGACCAACATAATGAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGTATATGCCAATAGTCCCAGCTACTCGGGAGGCTGAAGAACAAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCATTCCAGCTTGGGTGACAGAGTGAGATGAGTGAGACCCTGTCTCTGAAAAAAAAAAAAAAAAAAAAAGAATGTACAGTCTAGAGGTAGAGAGAGAAATTAGGAATTACCTATTAAATATTTTAGTAAATACTCTAGTAAGAGGAGTACAGAGTGTAGACATAGGCAGGAAATCTAACTCAGAAATAAGAGGTTAAAGAAGACTTCCCAGGGGACGTGGCAACTAATTTCAAACTAAAAGATATTACCCAGGAGTTAATTATTTGAGAGGGAAGGGAGAGGAGGTAAGGAACAAGGTTCCAAGGCGAGGTTAGAGGGATGAGCACCACCAGGCTAAGCGAGAGCACGGTCTACAGGAAGGACTGAAAGCAGCTCAGCCTAGTGGCTGAGCACGGTGGAGGGGAGGAAGGGATTAGGGTACCAGTGAAGGATGGGTCACGTGCAGGCAGGGTACGAATCATTCAGAACCTTGCATGTTTTAAGAAGGTTGGACTTGAGCCTAACAATGGGGAGGAGGGTCAGGTATTAGAGGTTTTTAAGCCCAGAAATGCAGCTAGAGTTAGGGTGTGGAGAATGGACTGGAGATAGCCTGAGGACTAGGGGCACAGAGGCCAGTTAGAAGTTATTTCAGTGATTCAGGAGAGGTGTGATGATGGTATTTGTGCTGTGGAAATGAAAACTGACACATAGAGAAGAAGAAAAATGTGAAGATATCTAGGAGGAAGGATTCGACAGAACTTGGTGACTGATAAGGGAGAGCAAAATGATTTCATGGCTTTCGTGACTGCATACGGCAGTACGTTTCTTTGAGAGAGAAAAATGCTAGAACAGGCTGGGGAGGGGAGGGGAATGGGAGGGGAAATGAGGACAGTCTGAGATATGGCTCATTTGAAGTGCCTGTGTAGCACTTACTAGATAGCTGTTCCAGAGAAACAGATTTGGGAACCATTAGTATATAAGAAGATTGGAGCTGGGAAAGTAGGGAAGACCATCTAAGG
TCTACTTGCCGAACTCTCACAATTTAAAATTCAGTTCAAATATGACTTCATTTATGATGTCCTCCTAGATCATCACAAACAGATTTAGTGATTTGGTTCATGGCTTTCTTCTTACATGCTTGTTTTACCCAGTAGTATCTTTCCCATAGACTTTAAGCTTCTCCAGGATAGGAGCAGTCTTTTTATTTCTCCCAAAGCCTGAAATATTGTCCTGCACACAGCTGTTCCGAATAAATGTTTAATGAACAGTGAATAACTTCAGTAGTAGACTACCTCATGGGAGTTGTTGGATCCTTTATTCTTTCTCTCACTGCCTGCTGGTGTTGACAGTCACTGATATATTAGTATTTTTATTAGCAAAGGTATTAAAGTAGCCTTTAGCATTTGTTAATCACCTAGTAAATTTTGCTTTGTTTATGAAATTGACTGTTTTTACCTGTTCCCCACCATCCTGAAGCAGCTGGTTTGACAGAAAGGTAGAATGGCCTTTTAAGACTCCATTACACTGCCAGGTAGGTACCTTGCAGGGCTGGGCCAGGGTTCTCCAGAAAGCTGGATATGCTCTGAATCAGTGTCTAATATATTATAGCATGGTTTCTCCCATAGCCAGTATTTACAGGTCCAGGGATCAAGGGATGGAAATGCGAGTGGCATCACCCACCATTACCACCTAGTGATCCACTGGCAACATTTTTGCTTCCTGTTCCTGTGACCTTATGTTCGGCAGGCCTAGAGGTCTTTGTCTAAGGGAGAGGAACACTTCCACCAGGAGATACAACAGCAACTTTGAACTCCTCATGCCTTCCAATCAACAAAGAAGACAGCTACTGTGCTGGCTGGATGACTAATCCTGACTACTAAGGGGAAATTGGATTGCTGTTTCACAGTGGAGGTGTAAGAAAGAGTAGGTCTGAAATACATGAGATCCCTTAGGGATCTCTTTGTATAATCATGCCTTGTGATTAAGGTCAATGGAAAACTACAACAATCCAATCCAGGCAGAACTACCAATCTCCCAGACCCTTCAGGACTGTGGATTTGGGTCACCCTACCAGATATAGAATTACAACCGGCTGAGGTGTTGTTCTCCAATGGGAAAGGGAATATGGGATGGATAGAGGAGGAAGGTACTTATAACTACCAGCTGTGACCACATGACAGGTATCAAAAATGAGAACTGTAATTGTCACAAGTATTTCCTTAATTTGTTGTGAATATGCTTGTGCATCTATATCTATATAGAAGTATATATATAAAGATATATGCCTATGTATAAGATATATATGCACATCTTGTCATTTCTGTTTCCTTGGAGGGCCCCAATATACATATTTATCTATTATTTTCAATCTTTTCTGCCATAAAATCATTACCCTAGATATTAAGCAGTATAGTTCCACGTCTTTTCCTTGTCCCCATATCACTAAAGTGATAAGAAGTATGCTATCAAGACAAAGAGAAAAATAGGTATAATCCATGTAATATGAAAAATAAACCATAACACCATTTCCAGTTATCACAATGCATCAAAGGTGACATTTTATACTTGAGAGATTGCTAATAGCTTCTTTACTTTTATTTAAACTGCCTACTTTTAGCTAATCCATCTCCCCCTTCTGCTTTTAAAAACTATCTGTTCTATTAGTGTTTTTTTCCCTATATTTCTACTTCCTATTACAGATAGAACAATAATGAAAATAAATGAGGATTCCGAAACGTGGAGACTCATATCACACTCTTATAAACCTAATTATTATCTGGTACTATAAATGCTAATCCTAGTACATAGTAGACCCTAAATAACTAAGTTACTTGAATAAGAACTTAATTTGGTAGCTGAAATTCTAAATTCCTATAACACTCTATTTTTATCTTTCTTAGGGTATATACCACTTTTAATACATTTAAGTTACCTGAATTTATTTATTTATTGAGGGTTAAGCCTATGTTTTATTTTTCTAGATATCCACACATTAAAAAAAAAGTTAAACAAGATCTTAGGTCATTTCTTCTTTGATTCAGATGGTTGTATTTTATAAGACTCTTACTGTGATATATATCCAGAGTTTTTTATGTCATTCCAGCTACTGTCATTGGCTTCACCACTTACAGAATCATATTTATTTTCAGTTTGACACTGAGTTTCAGACTCCTTCCTTTGCTGATAAGGTGAAAAACAAAATCACTACCAGTACAAAGCTGAACTGAAGTTAGCTAACAATTTTAGGTTATAAAATAAACAACACTGAAAAATACATAAGTAGCATCAAGAAAAATAAAAGCATTATGAAAACAAAGTGCAGCATTTTGCTTTATTATAAAAGAAAAAAAGTTTATCTTCCCACTGCTATCCCTCCAGTCTTTGAGGGGATTTTGTTTCTTTATAATGTGGGTATGTCATATGTACAGCATGATACATAACTAGATAGAAAGACAATGCACACATGTAAGCATAAACACAAACTCCTGGGCAAGACTAGAGTGATTTCTTTTGACAAAATAAGGTAGGGAAAAAAAGCAAACAAACAAAAAACCCAGTAACAATAACAACAACAACAAAAAGACTAGAGAGATTTCCTTCCTAACCAGTTTCATAGATTGCATTAAAATGCTTTTAAGAACAGGAAATTAAATCAGGCAATGCCTCTTTACCAACATCTCCTAAAAGATGTTTTAGAGGATGTTAATAATTATCATGGTCAAATTGGGGCACTGTGGGTCACCTGTTTAGTCACTGATTCTTTCAACAAATCTTTACTGAGCTCCAATTATGTGCCAAGCACTGTGTAAGGGGCTGAGGAGATGGTGGTAAACAGTGTAGACTGGTTCTTGTCCTTAAGAATGTACAGTCTAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGAAAGCTGAGGTGGGCAGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGACCAACATAATGAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGTATATGCCAATAGTCCCAGCTACTCGGGAGGCTGAAGAACAAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCATTCCAGCTTGGGTGACAGAGTGAGATGAGTGAGACCCTGTCTCTGAAAAAAAAAAAAAAAAAAAAAGAATGTACAGTCTAGAGGTAGAGAGAGAAATTAGGAATTACCTATTAAATATTTTAGTAAATACTCTAGTAAGAGGAGTACAGAGTGTAGACATAGGCAGGAAATCTAACTCAGAAATAAGAGGTTAAAGAAGACTTCCCAGGGGACGTGGCAACTAATTTCAAACTAAAAGATATTACCCAGGAGTTAATTATTTGAGAGGGAAGGGAGAGGAGGTAAGGAACAAGGTTCCAAGGCGAGGTTAGAGGGATGAGCACCACCAGGCTAAGCGAGAGCACGGTCTACAGGAAGGACTGAAAGCAGCTCAGCCTAGTGGCTGAGCACGGTGGAGGGGAGGAAGGGATTAGGGTACCAGTGAAGGATGGGTCACGTGCAGGCAGGGTACGAATCATTCAGAACCTTGCATGTTTTAAGAAGGTTGGACTTGAGCCTAACAATGGGGAGGAGGGTCAGGTATTAGAGGTTTTTAAGCCCAGAAATGCAGCTAGAGTTAGGGTGTGGAGAATGGACTGGAGATAGCCTGAGGACTAGGGGCACAGAGGCCAGTTAGAAGTTATTTCAGTGATTCAGGAGAGGTGTGATGATGGTATTTGTGCTGTGGAAATGAAAACTGACACATAGAGAAGAAGAAAAATGTGAAGATATCTAGGAGGAAGGATTCGACAGAACTTGGTGACTGATAAGGGAGAGCAAAATGATTTCATGGCTTTCGTGACTGCATACGGCAGTACGTTTCTTTGAGAGAGAAAAATGCTAGAACAGGCTGGGGAGGGGAGGGGAATGGGAGGGGAAATGAGGACAGTCTGAGATATGGCTCATTTGAAGTGCCTGTGTAGCACTTACTAGATAGCTGTTCCAGAGAAACAGATTTGGGAACCATTAGTATATAAGAAGATTGGAGCTGGGAAAGTAGGGAAGACCATCTAAGG
Task1_train_3824
Gene RPIA (ribose 5-phosphate isomerase A) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Deficiency of ribose-5-phosphate isomerase
TTTGTGCCATTGGTCACTCACACAGACTAACTCTGGGACAATGGGAAGGGATGATCCAAAGGGATGAATGTCAGGAGGTGAGGATTATTGGGGCCCTCTTTGAGGCCACTTTCCAATGTTTTTGTAGTCTCAGATCTGAAGTTAGGATGGTTTCTCTAATACTACTTTTACTTTTTTAAACTTTAAAGTTCAGGGGTACATGTGCAGGTTTGTTATGTAGGTAAACATGTCATGGGGGTTTGCTGTACAGATTATTTTGTCACCCAGGTGTTAAGCCTAGTACCCATTAGTTATTTTCCCTGATCGTCTCCTTCCTCCCACCCTCCACCCTCTATCCTTCAGTCAGCCCCAGTGTGTATTGTTGCCCTCTGTTAGCTCCCACTTACAAGTGAGAACATGTGGTATTTGGTTTTCTGTTCCTGCGCTAGTTTGCTAAGGATAATGGCCTCTGGCTCCATCCATGTTCCTGAAAAGGACGTGATCTCTCTCTCTTTTTGTTTTTAACGGCTGCATAGTTCTGATAGTACTTTTGGAGAAATCTAAGAATTAAGAAATAATCTAGCAATACTATTTTTGCTGTTTTCCTTTTCAGCATATATTTCTCTTTGATAAGTTCAAAATCATAAGGTTTTTTTTGAACTTGCTTATTCAGCCAGCATTTTATTTTAGCTTTTTATTATGGCAAATTTCAAAGTTCAGAAAGGAGAGAGAACAATAAAATGAACTTCCATGTACTCAGCATCCAGTTTCAATAATTATCAGTTCACAGCCAATCCTATTTCATCCATACCTAAATATCCCCCTGAATCTTGTTATTTAGAAACAAATTCCAGGCATAATATCATTTCATTGTATATATTTCATATGTCTCTCTGGAAAATGGGGAGTCTTTTAAACACCACAACAATACTAAAAAGAGCAATAATTTCTAATAACATCAATAATTTTTAATAACATCAAATCTGGGGTTCAAAGTTTTTTTATTGTCTTATCCTTTAAAAGTATATTTTTTAGTTTGTTTGAATCAGGATCCAACATTACAATTTTCAAGATCTTTACGTTTTAGCCTTAGAGTCTTACGATTTTAGATTAGAAGGTTGGCCTCGGTCATTTCATCTGTCCCTACCTTTTTATAGATGAGAAAAATTGCCAAGGGTCACAGGGCTGGCTCATTTAAGATTAGAACCTGGACCTTCTGATTCTTAATCTCAGGTGCTTTTTGTTTTTAGCAGAAAACGTTGTGAAGGCTTGTCTTTACAAAAAAGTTTTCCATCCTTTGGTTTCTGTGCATTATAAGCAATGACATGAACATAAACTCACATCACTGGGACTTGGGCATTCAAACATGAAGGTTTGAGGTATCTTTATTCCAGCTACGAATCCTGCTCAGAGCCAAAATTTGATGGCTGTAACCACTGTTCTCCCTTTTGTCACCTTTTTAAGAAGGTTAGCTCTGAAGCTTGACTATAACGTCAGTGGTGCTGACTTTCTCACAAACATCCTAAATCTCTCCCAGTCTAGTGTGCTAAATTTGCTGACTTCCTCCCTTAGTCTTTCTGAATTCTGGCATTTTTAAGTGTATATATTCTTTTCCTCATATTTACTTAACAGTGTGGGCTGGAAACCACTCCGTGTCCATTCATAATGATCTTCCTCAGTCTGTTTTTATACCATTGGATTGTTTTAAAACCTTTGTAGTAAGTTGTGGATTTGGTTCTATGTTAGGAATTTTTTGTCGCACTTGTTTTGCCAGAAGCTTTAGGATGCCGTGGCATTCTCTTTCATCACAAGTCACTGACGAGGAGCTCTTAGCTTCGCATTGGAACAGGGTCTTTGCTGTGCTGTTTGCCTTTTCCCAGCTCCCAGGTTGAATCAGCAGTTAGTTTTGCCATTCATGGGGCTAGATCTCCTACCTCATGGTGGGCCATGCTGGGCTTTGGGAGAGAGCCTGGGTAGGACTTGGGACACTTAAATCCAGAAGAATTCTGAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTTTATGGCTGTCACTTGTTCATGGGCTCCAGATATCTTGTAAAATCTAGGGAAGATGTCAGTTAGTTGTACCAAGTTTTCTCCTGGGACCTTGAGTATTAATTTTGGCTGAGGTCACAAGTGCCGAGGTGGTTCCTTTCCACCACATTCCTTGTGGTTTAACCGCAAGGGCTCAGTGTGAATGTAGTGAAGGGAAGTGGGCAAGCCCAGGGCTATATCCAGGGCTTCCTGAGGTCTTTGTGCAGAGGTATAAGAGTGAGCCAGCTCATGGAGCTTGCCACTAAGTGGAAATAAGGAAGAATCATCTGAGGCAGCCATGGACATTTGAAAATATTAAAACTAAGCAGAACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACATGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGTTGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGACGACATGATTGTATATCTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCGTAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTA
TTTGTGCCATTGGTCACTCACACAGACTAACTCTGGGACAATGGGAAGGGATGATCCAAAGGGATGAATGTCAGGAGGTGAGGATTATTGGGGCCCTCTTTGAGGCCACTTTCCAATGTTTTTGTAGTCTCAGATCTGAAGTTAGGATGGTTTCTCTAATACTACTTTTACTTTTTTAAACTTTAAAGTTCAGGGGTACATGTGCAGGTTTGTTATGTAGGTAAACATGTCATGGGGGTTTGCTGTACAGATTATTTTGTCACCCAGGTGTTAAGCCTAGTACCCATTAGTTATTTTCCCTGATCGTCTCCTTCCTCCCACCCTCCACCCTCTATCCTTCAGTCAGCCCCAGTGTGTATTGTTGCCCTCTGTTAGCTCCCACTTACAAGTGAGAACATGTGGTATTTGGTTTTCTGTTCCTGCGCTAGTTTGCTAAGGATAATGGCCTCTGGCTCCATCCATGTTCCTGAAAAGGACGTGATCTCTCTCTCTTTTTGTTTTTAACGGCTGCATAGTTCTGATAGTACTTTTGGAGAAATCTAAGAATTAAGAAATAATCTAGCAATACTATTTTTGCTGTTTTCCTTTTCAGCATATATTTCTCTTTGATAAGTTCAAAATCATAAGGTTTTTTTTGAACTTGCTTATTCAGCCAGCATTTTATTTTAGCTTTTTATTATGGCAAATTTCAAAGTTCAGAAAGGAGAGAGAACAATAAAATGAACTTCCATGTACTCAGCATCCAGTTTCAATAATTATCAGTTCACAGCCAATCCTATTTCATCCATACCTAAATATCCCCCTGAATCTTGTTATTTAGAAACAAATTCCAGGCATAATATCATTTCATTGTATATATTTCATATGTCTCTCTGGAAAATGGGGAGTCTTTTAAACACCACAACAATACTAAAAAGAGCAATAATTTCTAATAACATCAATAATTTTTAATAACATCAAATCTGGGGTTCAAAGTTTTTTTATTGTCTTATCCTTTAAAAGTATATTTTTTAGTTTGTTTGAATCAGGATCCAACATTACAATTTTCAAGATCTTTACGTTTTAGCCTTAGAGTCTTACGATTTTAGATTAGAAGGTTGGCCTCGGTCATTTCATCTGTCCCTACCTTTTTATAGATGAGAAAAATTGCCAAGGGTCACAGGGCTGGCTCATTTAAGATTAGAACCTGGACCTTCTGATTCTTAATCTCAGGTGCTTTTTGTTTTTAGCAGAAAACGTTGTGAAGGCTTGTCTTTACAAAAAAGTTTTCCATCCTTTGGTTTCTGTGCATTATAAGCAATGACATGAACATAAACTCACATCACTGGGACTTGGGCATTCAAACATGAAGGTTTGAGGTATCTTTATTCCAGCTACGAATCCTGCTCAGAGCCAAAATTTGATGGCTGTAACCACTGTTCTCCCTTTTGTCACCTTTTTAAGAAGGTTAGCTCTGAAGCTTGACTATAACGTCAGTGGTGCTGACTTTCTCACAAACATCCTAAATCTCTCCCAGTCTAGTGTGCTAAATTTGCTGACTTCCTCCCTTAGTCTTTCTGAATTCTGGCATTTTTAAGTGTATATATTCTTTTCCTCATATTTACTTAACAGTGTGGGCTGGAAACCACTCCGTGTCCATTCATAATGATCTTCCTCAGTCTGTTTTTATACCATTGGATTGTTTTAAAACCTTTGTAGTAAGTTGTGGATTTGGTTCTATGTTAGGAATTTTTTGTCGCACTTGTTTTGCCAGAAGCTTTAGGATGCCGTGGCATTCTCTTTCATCACAAGTCACTGACGAGGAGCTCTTAGCTTCGCATTGGAACAGGGTCTTTGCTGTGCTGTTTGCCTTTTCCCAGCTCCCAGGTTGAATCAGCAGTTAGTTTTGCCATTCATGGGGCTAGATCTCCTACCTCATGGTGGGCCATGCTGGGCTTTGGGAGAGAGCCTGGGTAGGACTTGGGACACTTAAATCCAGAAGAATTCTGAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGTCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTTTATGGCTGTCACTTGTTCATGGGCTCCAGATATCTTGTAAAATCTAGGGAAGATGTCAGTTAGTTGTACCAAGTTTTCTCCTGGGACCTTGAGTATTAATTTTGGCTGAGGTCACAAGTGCCGAGGTGGTTCCTTTCCACCACATTCCTTGTGGTTTAACCGCAAGGGCTCAGTGTGAATGTAGTGAAGGGAAGTGGGCAAGCCCAGGGCTATATCCAGGGCTTCCTGAGGTCTTTGTGCAGAGGTATAAGAGTGAGCCAGCTCATGGAGCTTGCCACTAAGTGGAAATAAGGAAGAATCATCTGAGGCAGCCATGGACATTTGAAAATATTAAAACTAAGCAGAACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACATGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGTTGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGACGACATGATTGTATATCTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCGTAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTA
Task1_train_3825
With a mutation on Chromosome 2 in gene RPIA (ribose 5-phosphate isomerase A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; not provided
GTGGTTTTTGTATCTTTACCTTTCCCCCAATACAGATCGACCTTGCCATCGATGGTGCTGATGAAGTAGATGCTGATCTCAATCTCATCAAGGGTGGCGGGTGAGTGTTGTGGGGGCTTCTGTGCTAAAGAGTATCTGCCAGTTAATCCTTAGCAAAGCAAGATGGATACAGAATAAACAAATTGCCACTGTGACATATGCAAGTTTGTCTTTCTCCTAGGATATTGATAGCATATGGCCTTAGACCCAACTCAGCATTTCTGGTCATTAGCAGCAATTTACTGACAAGGAACCTGGGCCTCTTTAGTGAGATCATTCATCGTAATGGATTCTCTGTGGATTTGTGTTCTTTTGTTGATTCAGACTTTAAAAACTTAAGGCCAAATCAAAATAATACTGGGCTAGATTGTTAGGTCTGTGGGCACCAGTGTGTGACTTTTGCTTTAAAGCTGTGCTTACTTCTGTGAGCAGTTAGGGATATTATTTGTTCCTTTGGAAAACATTAATTGGGTATTTCTTAAGTGCTGATTTGGGGAGTGGTGGGAATGGTGAGTTGAAAAAGGTGAAATCCTGTTCTGCTGGTTCTTATAATCAAGCAGACTATTGAGTGATGCAGCATTTGTTTAAAATCACACTTTACTGTTTATTAGATTTTCTTACGTGTTACTTAATCCTGTCAACTGCAGATGTGAGATAGTTTAGCTGCTAAACCCTAGAGGTAGACCTGGACCCAAATCTGCTGATTCAGTGCTCTGGGCTCTCTCCACTTCATCACCCTCATTGGCAAGTAGTCGACTGGGCGGGTTGTTCAAAGCGTGCCCTCCTCAGCTTCTAGACCCTCCCATTCATGCCATGTCCAGATGACATCTCCCTGAACACAATGCTCCCTCTCAGACACATTTGGATGGAATTATGCCTGGCCTGAATGGGAACCTTGTCTGCTTTCTAGGTTTCTCCCAGACAGGGGTAATGTTTCTAGAGTCCATTTACTAGGAGCAGCATGATGGGACTGGGGATGTCCCTTTAAAAATTAAAAGTTAAGTTTCTCTTTAAGTGCCAGGATTGAGTGGATTTGGGATTCCTGTATTTAACCTTAGTTCCCAAACTGAGATTTTTGTCTTACTCCTGTGTTCCTTTGCTTCTTTCCTGCAGAGGCTGCCTGACCCAGGAGAAGATTGTGGCTGGCTATGCTAGTCGCTTCATCGTGATCGCTGATTTCAGGTACAGTTTCTGGTGTCTGAGCTGCCAACTGAGGAGGTAGATTGGATCCCCAAGCCGCATCCCCATTTTTGTGAAAGAGGAAATGGAGAGCTGCAGGGACTGTCTGACTTTCTGAGACTGATGGCTAGGACTTAGTACAGTGTCTAGGAGACCTTATGTTCTGCTTGTAGGCTGAAGGTAGATGTTGCTAATCACAGCACTGTTATCCGCAGCCAGGATCTCTAGCATCGTTTCATGTGTTCAGTGGAACGGGGAAACAGCTTGTCACCCTGTTAGCAGAGCATGCTCTCATGTGTCATGTCACTCACTGGATCCTCACAGGGAGCCTCAGAGGAGGCAGGGTGTGCCCTGCCCACGGGCAGTGACTCAGCATACCCTGCTTCTTCTCGGGTCAGGGTTTGCCGCAGGTGACTGGTGTCATTGATAGTCTTTGACCAGGCTCTCAGATGCTCCTTCAAGGAATGTAGTCAAAAGCACTTGTGCTGAGCATGTTAATTTCAAATATGTGTATGTGTATATTTACTTGTGAAATATAGCCACAGGACGAGCATAAATATTAAACACCTACATACCCACAAGCCAGCAATATCAGATTTTAACATTTTTGTCATATTTATTTCAAATAGCTCTTTTCCTATATAGTGAAACAGCTAATTCATTTGTAGCCCCATGTATATTGCCCTTGATCACTTTCCTTGCCTTCCCACCATCTCATTAACCCTGTTCCTGAATTTGGTGTTTGCCTGTACTGTTGAGCTTATTTACTTTTATTGTACTTTCTGACTCCTTCTTTCCAGGAAAGATTCGAAGAATCTCGGGGATCAGTGGCACAAGGGAATCCCCATCGAGGTCATCCCAATGGCCTATGTCCCAGTGAGCCGAGCTGTGAGCCAGAAGTTTGGGGGCGTGGTTGAACTTCGAATGGCTGTCAACAAGGCTGTGAGTGGCCTGGTTGGGCCGGGGGTGTGCTGGGTGCACTCAGGTTTTCAGTGTGGTGTCCTCCCTTCTGTTGCAGTTAGGTCATGTGTGCTTCCACCAGGCAATTGGCTTTTATTTATTTTTAATTGATGTATTTGTTTATTTTCGGAGAATTGGCCTGTTAGTTTCTGCATTCAAACTCGTGTAGACAAGACCACACTTAATACAGTGCATCTCCTTTGTACAGATAGGGGAATGATTCTTTCTCTGTGCCTCAGGTTCTGACATCCCACAGGTGATCTGACCTTTGTGCCTGAGGCCTGGAACACCCTGATTGGCAGCTGTGAAACCCTGGCTTTGGGAACTGCTTGGAACAGAAAGTTTTTTAGGTTCCATGGTGTAACTTCTTTTCTCCCTCTTCTTTCCTCTCATTCTGTGGTTAAATGTGACAAGAAGTAGAATTTCTTGGGGTGTGTGAACTCTTCCCAAGGAATACTCTCCAGATGGTCCAAATTTTTCGTGTTTCTCTTTAGCTTCTAAAGTGGATTGCGCATAACTTTTCCCTCTTTTTATACTTAAGTAAACAAATAAGCAAAGACAGCAATCCAGAAGCTAACCACAGTTACATATGTAACTACGTAAACATTTTGGAGGATATCGAAAAGATCTGTCACCCTACCCTGATACATTTTTATTTTGATATATTTTGTCCCCACTGTTTCTGTGACTTTTAAAAAAAAACCGTAGTTCTGTTCCTAGTGGTTGTACAGTGCTCTGACTGACGTTCAGATTGTCGGCACATGAAAGAAATGTAGCACAAAATGGAGAAGTCGTTCAACCTTGACCCTGTCAGAGTTCTTATTTGAAAGCCACATTGCTGCTAGTGTTCTTATTGTGTTTTGGATTCTGTTTCTTGCCCTTTTTCTTATTAGCCAAGTAGTAACTTAAGGAAGCAGATAAGAACAATGAATTTTGGACTAAAGGAAGTAAGAACAATGAACCAGAAATCAGATAGGAATGTGGTGATAATTGTGACATGGTCACATAGTCATAGTGGGAGCTCATGTGAGTAAAAATAGCTTGATACATTTGTTAAGAGGCTTGTATCCTCTCTCTCTCTCTCAAAAAAAAAAAAAGACTACAATCTAAGTCTTTCTGATTTCAAAGCTCCTGCTTATTACCACTTCACAGCACACCTAGAAAGCATAAGGTGGGAGCAGGTTAAAATGCATACTTGTCTTTGGTTATCCCCTCTACTTTCCTGTCCTTCTCTGCCTACCTGTATCTGCATCCTTGGTCACTGTGGAAAATTATCTTCTAGGGTCCTGTGGTGACAGATAATGGGAATTTTATCTTGGACTGGAAGTTTGACCGGGTACACAAATGGAGTGAAGTGAATACAGCTATCAAAATGATCCCAGGTAACATGAGTGGTGTTCACCAGTCATATACACACCCATGGCCTTCATAACTGGCCCCTACATCTGGCCACAGAAGGCACAATGGACATGGGCTTTGTAAGGCTTGGTTGGAAAGAAGAATTCCCTTTATACCATGTTTGGGTTTTTAACTTCACCTCCTTTGCCGTATTCCCTTCCCCCAACAATTGTTGCTTACCTAGCAGCTTTGTTGCTTGTGCATTTCACAGCCTGTTTGAGTTAAGATAGTCCTGAAGCTGATGGAAGTTCAGAGGGGACTTGCCTTGAAATAAGGCCATCGTCTCTGGGTAGAACCTTTCCTTCCAGGAGCTGGACTACAGCCTTTTTTTGTGGGTTCTCTTCTTAAGTAGCGGGGAAAATGACTCAGTTAATCCACATTCATTGGATGCATGCCAAAGGCAAGATGTTGTGCTGTGTGTTACAGGGGATACTTCGATCTGGAGGACTTGTAATCTGTCCTCAAGGAGAATTGATGTAAACCTGGGGAAATCTGTGTGTGTGTGTAGAAGCCATGCCTA
GTGGTTTTTGTATCTTTACCTTTCCCCCAATACAGATCGACCTTGCCATCGATGGTGCTGATGAAGTAGATGCTGATCTCAATCTCATCAAGGGTGGCGGGTGAGTGTTGTGGGGGCTTCTGTGCTAAAGAGTATCTGCCAGTTAATCCTTAGCAAAGCAAGATGGATACAGAATAAACAAATTGCCACTGTGACATATGCAAGTTTGTCTTTCTCCTAGGATATTGATAGCATATGGCCTTAGACCCAACTCAGCATTTCTGGTCATTAGCAGCAATTTACTGACAAGGAACCTGGGCCTCTTTAGTGAGATCATTCATCGTAATGGATTCTCTGTGGATTTGTGTTCTTTTGTTGATTCAGACTTTAAAAACTTAAGGCCAAATCAAAATAATACTGGGCTAGATTGTTAGGTCTGTGGGCACCAGTGTGTGACTTTTGCTTTAAAGCTGTGCTTACTTCTGTGAGCAGTTAGGGATATTATTTGTTCCTTTGGAAAACATTAATTGGGTATTTCTTAAGTGCTGATTTGGGGAGTGGTGGGAATGGTGAGTTGAAAAAGGTGAAATCCTGTTCTGCTGGTTCTTATAATCAAGCAGACTATTGAGTGATGCAGCATTTGTTTAAAATCACACTTTACTGTTTATTAGATTTTCTTACGTGTTACTTAATCCTGTCAACTGCAGATGTGAGATAGTTTAGCTGCTAAACCCTAGAGGTAGACCTGGACCCAAATCTGCTGATTCAGTGCTCTGGGCTCTCTCCACTTCATCACCCTCATTGGCAAGTAGTCGACTGGGCGGGTTGTTCAAAGCGTGCCCTCCTCAGCTTCTAGACCCTCCCATTCATGCCATGTCCAGATGACATCTCCCTGAACACAATGCTCCCTCTCAGACACATTTGGATGGAATTATGCCTGGCCTGAATGGGAACCTTGTCTGCTTTCTAGGTTTCTCCCAGACAGGGGTAATGTTTCTAGAGTCCATTTACTAGGAGCAGCATGATGGGACTGGGGATGTCCCTTTAAAAATTAAAAGTTAAGTTTCTCTTTAAGTGCCAGGATTGAGTGGATTTGGGATTCCTGTATTTAACCTTAGTTCCCAAACTGAGATTTTTGTCTTACTCCTGTGTTCCTTTGCTTCTTTCCTGCAGAGGCTGCCTGACCCAGGAGAAGATTGTGGCTGGCTATGCTAGTCGCTTCATCGTGATCGCTGATTTCAGGTACAGTTTCTGGTGTCTGAGCTGCCAACTGAGGAGGTAGATTGGATCCCCAAGCCGCATCCCCATTTTTGTGAAAGAGGAAATGGAGAGCTGCAGGGACTGTCTGACTTTCTGAGACTGATGGCTAGGACTTAGTACAGTGTCTAGGAGACCTTATGTTCTGCTTGTAGGCTGAAGGTAGATGTTGCTAATCACAGCACTGTTATCCGCAGCCAGGATCTCTAGCATCGTTTCATGTGTTCAGTGGAACGGGGAAACAGCTTGTCACCCTGTTAGCAGAGCATGCTCTCATGTGTCATGTCACTCACTGGATCCTCACAGGGAGCCTCAGAGGAGGCAGGGTGTGCCCTGCCCACGGGCAGTGACTCAGCATACCCTGCTTCTTCTCGGGTCAGGGTTTGCCGCAGGTGACTGGTGTCATTGATAGTCTTTGACCAGGCTCTCAGATGCTCCTTCAAGGAATGTAGTCAAAAGCACTTGTGCTGAGCATGTTAATTTCAAATATGTGTATGTGTATATTTACTTGTGAAATATAGCCACAGGACGAGCATAAATATTAAACACCTACATACCCACAAGCCAGCAATATCAGATTTTAACATTTTTGTCATATTTATTTCAAATAGCTCTTTTCCTATATAGTGAAACAGCTAATTCATTTGTAGCCCCATGTATATTGCCCTTGATCACTTTCCTTGCCTTCCCACCATCTCATTAACCCTGTTCCTGAATTTGGTGTTTGCCTGTACTGTTGAGCTTATTTACTTTTATTGTACTTTCTGACTCCTTCTTTCCAGGAAAGATTCGAAGAATCTCGGGGATCAGTGCCACAAGGGAATCCCCATCGAGGTCATCCCAATGGCCTATGTCCCAGTGAGCCGAGCTGTGAGCCAGAAGTTTGGGGGCGTGGTTGAACTTCGAATGGCTGTCAACAAGGCTGTGAGTGGCCTGGTTGGGCCGGGGGTGTGCTGGGTGCACTCAGGTTTTCAGTGTGGTGTCCTCCCTTCTGTTGCAGTTAGGTCATGTGTGCTTCCACCAGGCAATTGGCTTTTATTTATTTTTAATTGATGTATTTGTTTATTTTCGGAGAATTGGCCTGTTAGTTTCTGCATTCAAACTCGTGTAGACAAGACCACACTTAATACAGTGCATCTCCTTTGTACAGATAGGGGAATGATTCTTTCTCTGTGCCTCAGGTTCTGACATCCCACAGGTGATCTGACCTTTGTGCCTGAGGCCTGGAACACCCTGATTGGCAGCTGTGAAACCCTGGCTTTGGGAACTGCTTGGAACAGAAAGTTTTTTAGGTTCCATGGTGTAACTTCTTTTCTCCCTCTTCTTTCCTCTCATTCTGTGGTTAAATGTGACAAGAAGTAGAATTTCTTGGGGTGTGTGAACTCTTCCCAAGGAATACTCTCCAGATGGTCCAAATTTTTCGTGTTTCTCTTTAGCTTCTAAAGTGGATTGCGCATAACTTTTCCCTCTTTTTATACTTAAGTAAACAAATAAGCAAAGACAGCAATCCAGAAGCTAACCACAGTTACATATGTAACTACGTAAACATTTTGGAGGATATCGAAAAGATCTGTCACCCTACCCTGATACATTTTTATTTTGATATATTTTGTCCCCACTGTTTCTGTGACTTTTAAAAAAAAACCGTAGTTCTGTTCCTAGTGGTTGTACAGTGCTCTGACTGACGTTCAGATTGTCGGCACATGAAAGAAATGTAGCACAAAATGGAGAAGTCGTTCAACCTTGACCCTGTCAGAGTTCTTATTTGAAAGCCACATTGCTGCTAGTGTTCTTATTGTGTTTTGGATTCTGTTTCTTGCCCTTTTTCTTATTAGCCAAGTAGTAACTTAAGGAAGCAGATAAGAACAATGAATTTTGGACTAAAGGAAGTAAGAACAATGAACCAGAAATCAGATAGGAATGTGGTGATAATTGTGACATGGTCACATAGTCATAGTGGGAGCTCATGTGAGTAAAAATAGCTTGATACATTTGTTAAGAGGCTTGTATCCTCTCTCTCTCTCTCAAAAAAAAAAAAAGACTACAATCTAAGTCTTTCTGATTTCAAAGCTCCTGCTTATTACCACTTCACAGCACACCTAGAAAGCATAAGGTGGGAGCAGGTTAAAATGCATACTTGTCTTTGGTTATCCCCTCTACTTTCCTGTCCTTCTCTGCCTACCTGTATCTGCATCCTTGGTCACTGTGGAAAATTATCTTCTAGGGTCCTGTGGTGACAGATAATGGGAATTTTATCTTGGACTGGAAGTTTGACCGGGTACACAAATGGAGTGAAGTGAATACAGCTATCAAAATGATCCCAGGTAACATGAGTGGTGTTCACCAGTCATATACACACCCATGGCCTTCATAACTGGCCCCTACATCTGGCCACAGAAGGCACAATGGACATGGGCTTTGTAAGGCTTGGTTGGAAAGAAGAATTCCCTTTATACCATGTTTGGGTTTTTAACTTCACCTCCTTTGCCGTATTCCCTTCCCCCAACAATTGTTGCTTACCTAGCAGCTTTGTTGCTTGTGCATTTCACAGCCTGTTTGAGTTAAGATAGTCCTGAAGCTGATGGAAGTTCAGAGGGGACTTGCCTTGAAATAAGGCCATCGTCTCTGGGTAGAACCTTTCCTTCCAGGAGCTGGACTACAGCCTTTTTTTGTGGGTTCTCTTCTTAAGTAGCGGGGAAAATGACTCAGTTAATCCACATTCATTGGATGCATGCCAAAGGCAAGATGTTGTGCTGTGTGTTACAGGGGATACTTCGATCTGGAGGACTTGTAATCTGTCCTCAAGGAGAATTGATGTAAACCTGGGGAAATCTGTGTGTGTGTGTAGAAGCCATGCCTA
Task1_train_3826
A variant was discovered in gene IGK, IGKC (immunoglobulin kappa locus| immunoglobulin kappa constant), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Recurrent infections associated with rare immunoglobulin isotypes deficiency
AAAGCAGGACAAAGGGATTGTCAGTCATTTGAGGGAAGGGATGCTGTGTTAGTTACTCCTGAACCCCTTCAGAGTGTAGGCAGAGAGAGGTACTTAGAAAGGTGTGTTGGATGGATGAGTAGCTGAGAGGGGCAGGGCCAGAGTGCCCCATAGAATGAGGAAGAGTCCTCATTTACATGTGCCCTTCCCCCTTCCCAAACATGTGAGTGTTCATACATGGGTTTCCAGTGTCTGGGCAAGGTTAATTCTGTCCTCTGTCCCCTTGCTGAAGGTCTGTTTCATTTAATTTCTATGTATGTGTGCTCCTAGCTAGCCAAACAGGGCACAGATGCCAGGAAAATAGCAGGCCTGTTGTTTTGTTGAGCACCTTGAGCCCTGGAAGGCAGACTCATTCAGGGCTCAAGAGGGCAGGATTAGGCAGGTAGCTATTTGATCCCAGGCCCCCCCACTTACCAGCTGCGTGGTCTTGACCTATTACTTATTCCTCTTCTATCTATTAACTGGGTATAAGATGTTCTTTATGTGAAGTTATTTTGAAGCATAATGTGTATACAGAACAGTGCACAGATCATAACTGCACAACCCCACACGAGGAACAGAACATTACCAAGACCCCAGAAGCCCCTTCTTGTCTTCTCCCAGGCACTAACTCGCCCACCCCCAGCTAAGAGTAATTTCCATCCAAATTTCTAACTTTATTTTTACCTGGTTTTGAACTTTATATGGATGAAAACATACAGAACATATCTTTTGCATTGAGTTTCTCTTATGTAACATTATTTTTATGAGATTCATCTGTGTGAGTAGGTATAGTTGTAGCTTGTTAATTCTCCTCATTGGGTATTCTAATGTATAAACATACCACAGTTTAATAACTCATTCTATTGTTGGACAATCGGGCTATTTCCAATTTTTGGCTTTTGTAAATAAAGCTGCTTTGAACATTCTTGCATAGTTTTTTGGTGGGTGGGGACACTCAGTCATCTAGAAGTGGGATTGCTGAGTTATAGAATATATTTGTCTCTCAGCTTTATAGAACCTTTGCAACATTTTAATGAATGTTTTTAATCTCACAGTATAGTGTGGATTAAATTAGGTTGTGGAAAGTACTCAATACGGCCCTTGGCAGACAGGAGTCCCTCAGTACCTGTTTAAAAATGTAAATAAGGCATGACATTCCATTAAGTCTAAGTACCATGATGAACTTAAACATTTCCCTATTGTTTGTTTATTTAATTGCTTTTATTGTGTTGTTATTTTATATCATGTTGCAATGAATGATTCTCTTTATAGCAGGTTTCTTCTTTTGAAAAATTTGCTTTGGTTGATTCTCAGGGAATTGAATCAAAGGATATATGACTGTAAGACCTGTCACCCTTAAAAAGGACTATGAGGGCTTGCTGAGGAGGGGAAAACAAGGAAGCAAGTCTCTCCTACCATGGCCCAGGGGACTGTGAGGACAGAAGGCTTGTGGGTTTGAGGGAGGACTGTCTTGCAGAGGATGATAGGGTAAAATAGAATGAAGGATGATTTTTATAAATGGTTATGCGCCTTAGGATGACTACATATTTAGTCCCTTATAAGAGAAATTGAGTAGTTGGTAAAACAACAGATAATAATTATTAAATGAGGAAAGAGAGAAACCACAGGTGCAAAGATTCACTTTATTTATTCATTCTCCTCCAACATTAGCATAATTAAAGCCAAGGAGGAGGAGGGGGGTGAGGTGAAAGATGAGCTGGAGGACCGCAATAGGGGTAGGTCCCCTGTGGAAAAAGGGTCAGAGGCCAAAGGATGGGAGGGGGTCAGGCTGGAACTGAGGAGCAGGTGGGGGCACTTCTCCCTCTAACACTCTCCCCTGTTGAAGCTCTTTGTGACGGGCGAGCTCAGGCCCTGATGGGTGACTTCGCAGGCGTAGACTTTGTGTTTCTCGTAGTCTGCTTTGCTCAGCGTCAGGGTGCTGCTGAGGCTGTAGGTGCTGTCCTTGCTGTCCTGCTCTGTGACACTCTCCTGGGAGTTACCCGATTGGAGGGCGTTATCCACCTTCCACTGTACTTTGGCCTCTCTGGGATAGAAGTTATTCAGCAGGCACACAACAGAGGCAGTTCCAGATTTCAACTGCTCATCAGATGGCGGGAAGATGAAGACAGATGGTGCAGCCACAGTTCCTGAGGAAAGAAGCAAACAGGATGGTGTTTAAGTAACAAAGTTCTGCCCTTGGGTGTGTTGTTTGCGGATAATCACAGGGCATGTTAGGGACAGACAGAAAACAGCATGCTTATCCCAGATAATTATAGCAAGGAGACCAAGAAGCGTATTTAAAATCTTGATGTTTTGAGTTTCTTCCTAGCTTCCCCCTATTCCTTAATAAAGTTCTAAATTGTTTTGTTGGAGCTCTTTGCAGCCATTCTGAGGGCTTTGCATGCTTTTCTGACCTTGCAGTAAACTCAATGCTTTAGGCAAAGAATGGCCACGTCATCCGACCCCCTCAGAGTTTAGAATTCAGAACAGGTCTGAAGAAGACCAGGCAGCGGCTGAGTCAAGGAAAGCCTCCGTCCGCTTTTATTTCCCCTGTGCCTCTTCCAGGACTGTGCTGGGATAACAGGCTCCCGGGGGTTACTTTGGCTGGGCTGGGCTAAAACCTCCCTGCAGAGCAGGCCCTGAGCCCTGCCTCTGCGCCTGGGTGGTGTCAGCCCCTCCACCTTCTGACTGTTCCAGCAACTCTCTAAGCCCTCCCAAAGGCCTCAAGGCCTGTAACCATATGCAGCAATTTTCAGCCATACCAGGAGAGGTCAACTGTAATCTTGGCCACCTGCCTAAGAGGAAGTGGCTAGCTTCACTTCTGACCCTCAGCAACTGCCAGGTGGCCTCTTGGAAATCCCCCTCTGGGGGATTCCACCCGTTGGGTGGGAGAGCAGTAGTTAAAATGTAAAATAAGAATCTTTTGCTGGGAGAAGTCAACAGATAGGGAGAAGTCAGCTGATAACAGAAATAGTTTTTTTTTTTTTTAAAACTAACTTCACTGTTAACCAAGCAGTTCAACATGAAAGACTGAATCTCTTATGTTTAATATTTTCTTCTCTTTTAATCTTCATAACTAATTTTTTTCAGATAATTGTATAAAATAACCATGGTAGCAAAATAATGTGATCACTGGAAAATAAGCAGGGAAAAACATGCTATGAAGATACTCCTATCTGGGTGAATTCTTGATAGCTTTACATTTTTCATCTGGCATTTAAACATTAAACAGTTAATGTATTTGACATGAAAATTATTTCAAGTTATCTTATTAGTTTTAATAGAGTTTAAAAAGTGTTTAAAAGAGTTTTCAAAAGGCTCTAAAATCATTTTGAAATAGTTTAAAACAGTTTTGAATCGTTGTAAGTTAGTTTTAATAGAGCTTTAAAAAGGCCCTAAAATAGTCCTATCAAGTTGTTGCAGACCAAAATAATCTCCTTAAATATCACTTTTGAGATCAGCTGGGGTAAACGACAGCAACACAATGACAAATCATTAAACTATTTTAGAGATTATGAAATTAAAATACTCAGATTAAAATTTTCCTATCACAGAATTAAGGTACTGGAAAATATGTTTAAGTTTTTATTAATCACATTGCTATAGGTTTAGATATTTTGTACAACTGAAATAAAATCACACACTGGCAGCTACATTTTTGAAAGTTAAAAACATGGTCACGAATATATCTTATTTTAAAATCAGTTAATATACCTTAATGGTATTTAATGCCAAATTCAAAGTGAATTGATCAAGCCCTCAGTGGCCAGGTCATGGGTGTGATTTTTACTCTGAAAGAATTACATATTTCTTTCTTTTTGGTTGAGCTTTTGTTATTTAAATACATTTGATGAGAGGATATTGAAATAATTAAATAGCACTGAAAAAAAAAAAAGCTTTAAATTATTTACAATCCCCTAATGGAAATTTTCACTAATGAGATATCATAATGAATGTGAATTTTATTTCTGAAATCTCTAATAAATCAGTCTTCTCCCTGGTTTTCCCAGCTCAGCGCCCATTACGTTTCTGTTCTCTTTCCCTTAGTGGCATTATTTGTATCACTGTGCATCAG
AAAGCAGGACAAAGGGATTGTCAGTCATTTGAGGGAAGGGATGCTGTGTTAGTTACTCCTGAACCCCTTCAGAGTGTAGGCAGAGAGAGGTACTTAGAAAGGTGTGTTGGATGGATGAGTAGCTGAGAGGGGCAGGGCCAGAGTGCCCCATAGAATGAGGAAGAGTCCTCATTTACATGTGCCCTTCCCCCTTCCCAAACATGTGAGTGTTCATACATGGGTTTCCAGTGTCTGGGCAAGGTTAATTCTGTCCTCTGTCCCCTTGCTGAAGGTCTGTTTCATTTAATTTCTATGTATGTGTGCTCCTAGCTAGCCAAACAGGGCACAGATGCCAGGAAAATAGCAGGCCTGTTGTTTTGTTGAGCACCTTGAGCCCTGGAAGGCAGACTCATTCAGGGCTCAAGAGGGCAGGATTAGGCAGGTAGCTATTTGATCCCAGGCCCCCCCACTTACCAGCTGCGTGGTCTTGACCTATTACTTATTCCTCTTCTATCTATTAACTGGGTATAAGATGTTCTTTATGTGAAGTTATTTTGAAGCATAATGTGTATACAGAACAGTGCACAGATCATAACTGCACAACCCCACACGAGGAACAGAACATTACCAAGACCCCAGAAGCCCCTTCTTGTCTTCTCCCAGGCACTAACTCGCCCACCCCCAGCTAAGAGTAATTTCCATCCAAATTTCTAACTTTATTTTTACCTGGTTTTGAACTTTATATGGATGAAAACATACAGAACATATCTTTTGCATTGAGTTTCTCTTATGTAACATTATTTTTATGAGATTCATCTGTGTGAGTAGGTATAGTTGTAGCTTGTTAATTCTCCTCATTGGGTATTCTAATGTATAAACATACCACAGTTTAATAACTCATTCTATTGTTGGACAATCGGGCTATTTCCAATTTTTGGCTTTTGTAAATAAAGCTGCTTTGAACATTCTTGCATAGTTTTTTGGTGGGTGGGGACACTCAGTCATCTAGAAGTGGGATTGCTGAGTTATAGAATATATTTGTCTCTCAGCTTTATAGAACCTTTGCAACATTTTAATGAATGTTTTTAATCTCACAGTATAGTGTGGATTAAATTAGGTTGTGGAAAGTACTCAATACGGCCCTTGGCAGACAGGAGTCCCTCAGTACCTGTTTAAAAATGTAAATAAGGCATGACATTCCATTAAGTCTAAGTACCATGATGAACTTAAACATTTCCCTATTGTTTGTTTATTTAATTGCTTTTATTGTGTTGTTATTTTATATCATGTTGCAATGAATGATTCTCTTTATAGCAGGTTTCTTCTTTTGAAAAATTTGCTTTGGTTGATTCTCAGGGAATTGAATCAAAGGATATATGACTGTAAGACCTGTCACCCTTAAAAAGGACTATGAGGGCTTGCTGAGGAGGGGAAAACAAGGAAGCAAGTCTCTCCTACCATGGCCCAGGGGACTGTGAGGACAGAAGGCTTGTGGGTTTGAGGGAGGACTGTCTTGCAGAGGATGATAGGGTAAAATAGAATGAAGGATGATTTTTATAAATGGTTATGCGCCTTAGGATGACTACATATTTAGTCCCTTATAAGAGAAATTGAGTAGTTGGTAAAACAACAGATAATAATTATTAAATGAGGAAAGAGAGAAACCACAGGTGCAAAGATTCACTTTATTTATTCATTCTCCTCCAACATTAGCATAATTAAAGCCAAGGAGGAGGAGGGGGGTGAGGTGAAAGATGAGCTGGAGGACCGCAATAGGGGTAGGTCCCCTGTGGAAAAAGGGTCAGAGGCCAAAGGATGGGAGGGGGTCAGGCTGGAACTGAGGAGCAGGTGGGGGCACTTCTCCCTCTAACACTCTCCCCTGTTGAAGCTCTTTGTGACGGGCGAGCTCAGGCCCTGATGGGTGACTTCGCAGGCGTAGACTTTGTGTTTCTCGTAGTCTGCTTTGCTCAGCGTCAGGGTGCTGCTGAGGCTGTAGGTGCTGTCCTTGCTGTCCTGCTCTGTGACACTCTCCTGGGAGTTACCCGATTGGAGGGCGTTATCCACCTTCCCCTGTACTTTGGCCTCTCTGGGATAGAAGTTATTCAGCAGGCACACAACAGAGGCAGTTCCAGATTTCAACTGCTCATCAGATGGCGGGAAGATGAAGACAGATGGTGCAGCCACAGTTCCTGAGGAAAGAAGCAAACAGGATGGTGTTTAAGTAACAAAGTTCTGCCCTTGGGTGTGTTGTTTGCGGATAATCACAGGGCATGTTAGGGACAGACAGAAAACAGCATGCTTATCCCAGATAATTATAGCAAGGAGACCAAGAAGCGTATTTAAAATCTTGATGTTTTGAGTTTCTTCCTAGCTTCCCCCTATTCCTTAATAAAGTTCTAAATTGTTTTGTTGGAGCTCTTTGCAGCCATTCTGAGGGCTTTGCATGCTTTTCTGACCTTGCAGTAAACTCAATGCTTTAGGCAAAGAATGGCCACGTCATCCGACCCCCTCAGAGTTTAGAATTCAGAACAGGTCTGAAGAAGACCAGGCAGCGGCTGAGTCAAGGAAAGCCTCCGTCCGCTTTTATTTCCCCTGTGCCTCTTCCAGGACTGTGCTGGGATAACAGGCTCCCGGGGGTTACTTTGGCTGGGCTGGGCTAAAACCTCCCTGCAGAGCAGGCCCTGAGCCCTGCCTCTGCGCCTGGGTGGTGTCAGCCCCTCCACCTTCTGACTGTTCCAGCAACTCTCTAAGCCCTCCCAAAGGCCTCAAGGCCTGTAACCATATGCAGCAATTTTCAGCCATACCAGGAGAGGTCAACTGTAATCTTGGCCACCTGCCTAAGAGGAAGTGGCTAGCTTCACTTCTGACCCTCAGCAACTGCCAGGTGGCCTCTTGGAAATCCCCCTCTGGGGGATTCCACCCGTTGGGTGGGAGAGCAGTAGTTAAAATGTAAAATAAGAATCTTTTGCTGGGAGAAGTCAACAGATAGGGAGAAGTCAGCTGATAACAGAAATAGTTTTTTTTTTTTTTAAAACTAACTTCACTGTTAACCAAGCAGTTCAACATGAAAGACTGAATCTCTTATGTTTAATATTTTCTTCTCTTTTAATCTTCATAACTAATTTTTTTCAGATAATTGTATAAAATAACCATGGTAGCAAAATAATGTGATCACTGGAAAATAAGCAGGGAAAAACATGCTATGAAGATACTCCTATCTGGGTGAATTCTTGATAGCTTTACATTTTTCATCTGGCATTTAAACATTAAACAGTTAATGTATTTGACATGAAAATTATTTCAAGTTATCTTATTAGTTTTAATAGAGTTTAAAAAGTGTTTAAAAGAGTTTTCAAAAGGCTCTAAAATCATTTTGAAATAGTTTAAAACAGTTTTGAATCGTTGTAAGTTAGTTTTAATAGAGCTTTAAAAAGGCCCTAAAATAGTCCTATCAAGTTGTTGCAGACCAAAATAATCTCCTTAAATATCACTTTTGAGATCAGCTGGGGTAAACGACAGCAACACAATGACAAATCATTAAACTATTTTAGAGATTATGAAATTAAAATACTCAGATTAAAATTTTCCTATCACAGAATTAAGGTACTGGAAAATATGTTTAAGTTTTTATTAATCACATTGCTATAGGTTTAGATATTTTGTACAACTGAAATAAAATCACACACTGGCAGCTACATTTTTGAAAGTTAAAAACATGGTCACGAATATATCTTATTTTAAAATCAGTTAATATACCTTAATGGTATTTAATGCCAAATTCAAAGTGAATTGATCAAGCCCTCAGTGGCCAGGTCATGGGTGTGATTTTTACTCTGAAAGAATTACATATTTCTTTCTTTTTGGTTGAGCTTTTGTTATTTAAATACATTTGATGAGAGGATATTGAAATAATTAAATAGCACTGAAAAAAAAAAAAGCTTTAAATTATTTACAATCCCCTAATGGAAATTTTCACTAATGAGATATCATAATGAATGTGAATTTTATTTCTGAAATCTCTAATAAATCAGTCTTCTCCCTGGTTTTCCCAGCTCAGCGCCCATTACGTTTCTGTTCTCTTTCCCTTAGTGGCATTATTTGTATCACTGTGCATCAG
Task1_train_3827
Here is a variant affecting IGK, IGKC (immunoglobulin kappa locus| immunoglobulin kappa constant) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Recurrent infections associated with rare immunoglobulin isotypes deficiency
AAAGCAGGACAAAGGGATTGTCAGTCATTTGAGGGAAGGGATGCTGTGTTAGTTACTCCTGAACCCCTTCAGAGTGTAGGCAGAGAGAGGTACTTAGAAAGGTGTGTTGGATGGATGAGTAGCTGAGAGGGGCAGGGCCAGAGTGCCCCATAGAATGAGGAAGAGTCCTCATTTACATGTGCCCTTCCCCCTTCCCAAACATGTGAGTGTTCATACATGGGTTTCCAGTGTCTGGGCAAGGTTAATTCTGTCCTCTGTCCCCTTGCTGAAGGTCTGTTTCATTTAATTTCTATGTATGTGTGCTCCTAGCTAGCCAAACAGGGCACAGATGCCAGGAAAATAGCAGGCCTGTTGTTTTGTTGAGCACCTTGAGCCCTGGAAGGCAGACTCATTCAGGGCTCAAGAGGGCAGGATTAGGCAGGTAGCTATTTGATCCCAGGCCCCCCCACTTACCAGCTGCGTGGTCTTGACCTATTACTTATTCCTCTTCTATCTATTAACTGGGTATAAGATGTTCTTTATGTGAAGTTATTTTGAAGCATAATGTGTATACAGAACAGTGCACAGATCATAACTGCACAACCCCACACGAGGAACAGAACATTACCAAGACCCCAGAAGCCCCTTCTTGTCTTCTCCCAGGCACTAACTCGCCCACCCCCAGCTAAGAGTAATTTCCATCCAAATTTCTAACTTTATTTTTACCTGGTTTTGAACTTTATATGGATGAAAACATACAGAACATATCTTTTGCATTGAGTTTCTCTTATGTAACATTATTTTTATGAGATTCATCTGTGTGAGTAGGTATAGTTGTAGCTTGTTAATTCTCCTCATTGGGTATTCTAATGTATAAACATACCACAGTTTAATAACTCATTCTATTGTTGGACAATCGGGCTATTTCCAATTTTTGGCTTTTGTAAATAAAGCTGCTTTGAACATTCTTGCATAGTTTTTTGGTGGGTGGGGACACTCAGTCATCTAGAAGTGGGATTGCTGAGTTATAGAATATATTTGTCTCTCAGCTTTATAGAACCTTTGCAACATTTTAATGAATGTTTTTAATCTCACAGTATAGTGTGGATTAAATTAGGTTGTGGAAAGTACTCAATACGGCCCTTGGCAGACAGGAGTCCCTCAGTACCTGTTTAAAAATGTAAATAAGGCATGACATTCCATTAAGTCTAAGTACCATGATGAACTTAAACATTTCCCTATTGTTTGTTTATTTAATTGCTTTTATTGTGTTGTTATTTTATATCATGTTGCAATGAATGATTCTCTTTATAGCAGGTTTCTTCTTTTGAAAAATTTGCTTTGGTTGATTCTCAGGGAATTGAATCAAAGGATATATGACTGTAAGACCTGTCACCCTTAAAAAGGACTATGAGGGCTTGCTGAGGAGGGGAAAACAAGGAAGCAAGTCTCTCCTACCATGGCCCAGGGGACTGTGAGGACAGAAGGCTTGTGGGTTTGAGGGAGGACTGTCTTGCAGAGGATGATAGGGTAAAATAGAATGAAGGATGATTTTTATAAATGGTTATGCGCCTTAGGATGACTACATATTTAGTCCCTTATAAGAGAAATTGAGTAGTTGGTAAAACAACAGATAATAATTATTAAATGAGGAAAGAGAGAAACCACAGGTGCAAAGATTCACTTTATTTATTCATTCTCCTCCAACATTAGCATAATTAAAGCCAAGGAGGAGGAGGGGGGTGAGGTGAAAGATGAGCTGGAGGACCGCAATAGGGGTAGGTCCCCTGTGGAAAAAGGGTCAGAGGCCAAAGGATGGGAGGGGGTCAGGCTGGAACTGAGGAGCAGGTGGGGGCACTTCTCCCTCTAACACTCTCCCCTGTTGAAGCTCTTTGTGACGGGCGAGCTCAGGCCCTGATGGGTGACTTCGCAGGCGTAGACTTTGTGTTTCTCGTAGTCTGCTTTGCTCAGCGTCAGGGTGCTGCTGAGGCTGTAGGTGCTGTCCTTGCTGTCCTGCTCTGTGACACTCTCCTGGGAGTTACCCGATTGGAGGGCGTTATCCACCTTCCACTGTACTTTGGCCTCTCTGGGATAGAAGTTATTCAGCAGGCACACAACAGAGGCAGTTCCAGATTTCAACTGCTCATCAGATGGCGGGAAGATGAAGACAGATGGTGCAGCCACAGTTCCTGAGGAAAGAAGCAAACAGGATGGTGTTTAAGTAACAAAGTTCTGCCCTTGGGTGTGTTGTTTGCGGATAATCACAGGGCATGTTAGGGACAGACAGAAAACAGCATGCTTATCCCAGATAATTATAGCAAGGAGACCAAGAAGCGTATTTAAAATCTTGATGTTTTGAGTTTCTTCCTAGCTTCCCCCTATTCCTTAATAAAGTTCTAAATTGTTTTGTTGGAGCTCTTTGCAGCCATTCTGAGGGCTTTGCATGCTTTTCTGACCTTGCAGTAAACTCAATGCTTTAGGCAAAGAATGGCCACGTCATCCGACCCCCTCAGAGTTTAGAATTCAGAACAGGTCTGAAGAAGACCAGGCAGCGGCTGAGTCAAGGAAAGCCTCCGTCCGCTTTTATTTCCCCTGTGCCTCTTCCAGGACTGTGCTGGGATAACAGGCTCCCGGGGGTTACTTTGGCTGGGCTGGGCTAAAACCTCCCTGCAGAGCAGGCCCTGAGCCCTGCCTCTGCGCCTGGGTGGTGTCAGCCCCTCCACCTTCTGACTGTTCCAGCAACTCTCTAAGCCCTCCCAAAGGCCTCAAGGCCTGTAACCATATGCAGCAATTTTCAGCCATACCAGGAGAGGTCAACTGTAATCTTGGCCACCTGCCTAAGAGGAAGTGGCTAGCTTCACTTCTGACCCTCAGCAACTGCCAGGTGGCCTCTTGGAAATCCCCCTCTGGGGGATTCCACCCGTTGGGTGGGAGAGCAGTAGTTAAAATGTAAAATAAGAATCTTTTGCTGGGAGAAGTCAACAGATAGGGAGAAGTCAGCTGATAACAGAAATAGTTTTTTTTTTTTTTAAAACTAACTTCACTGTTAACCAAGCAGTTCAACATGAAAGACTGAATCTCTTATGTTTAATATTTTCTTCTCTTTTAATCTTCATAACTAATTTTTTTCAGATAATTGTATAAAATAACCATGGTAGCAAAATAATGTGATCACTGGAAAATAAGCAGGGAAAAACATGCTATGAAGATACTCCTATCTGGGTGAATTCTTGATAGCTTTACATTTTTCATCTGGCATTTAAACATTAAACAGTTAATGTATTTGACATGAAAATTATTTCAAGTTATCTTATTAGTTTTAATAGAGTTTAAAAAGTGTTTAAAAGAGTTTTCAAAAGGCTCTAAAATCATTTTGAAATAGTTTAAAACAGTTTTGAATCGTTGTAAGTTAGTTTTAATAGAGCTTTAAAAAGGCCCTAAAATAGTCCTATCAAGTTGTTGCAGACCAAAATAATCTCCTTAAATATCACTTTTGAGATCAGCTGGGGTAAACGACAGCAACACAATGACAAATCATTAAACTATTTTAGAGATTATGAAATTAAAATACTCAGATTAAAATTTTCCTATCACAGAATTAAGGTACTGGAAAATATGTTTAAGTTTTTATTAATCACATTGCTATAGGTTTAGATATTTTGTACAACTGAAATAAAATCACACACTGGCAGCTACATTTTTGAAAGTTAAAAACATGGTCACGAATATATCTTATTTTAAAATCAGTTAATATACCTTAATGGTATTTAATGCCAAATTCAAAGTGAATTGATCAAGCCCTCAGTGGCCAGGTCATGGGTGTGATTTTTACTCTGAAAGAATTACATATTTCTTTCTTTTTGGTTGAGCTTTTGTTATTTAAATACATTTGATGAGAGGATATTGAAATAATTAAATAGCACTGAAAAAAAAAAAAGCTTTAAATTATTTACAATCCCCTAATGGAAATTTTCACTAATGAGATATCATAATGAATGTGAATTTTATTTCTGAAATCTCTAATAAATCAGTCTTCTCCCTGGTTTTCCCAGCTCAGCGCCCATTACGTTTCTGTTCTCTTTCCCTTAGTGGCATTATTTGTATCACTGTGCATCAG
AAAGCAGGACAAAGGGATTGTCAGTCATTTGAGGGAAGGGATGCTGTGTTAGTTACTCCTGAACCCCTTCAGAGTGTAGGCAGAGAGAGGTACTTAGAAAGGTGTGTTGGATGGATGAGTAGCTGAGAGGGGCAGGGCCAGAGTGCCCCATAGAATGAGGAAGAGTCCTCATTTACATGTGCCCTTCCCCCTTCCCAAACATGTGAGTGTTCATACATGGGTTTCCAGTGTCTGGGCAAGGTTAATTCTGTCCTCTGTCCCCTTGCTGAAGGTCTGTTTCATTTAATTTCTATGTATGTGTGCTCCTAGCTAGCCAAACAGGGCACAGATGCCAGGAAAATAGCAGGCCTGTTGTTTTGTTGAGCACCTTGAGCCCTGGAAGGCAGACTCATTCAGGGCTCAAGAGGGCAGGATTAGGCAGGTAGCTATTTGATCCCAGGCCCCCCCACTTACCAGCTGCGTGGTCTTGACCTATTACTTATTCCTCTTCTATCTATTAACTGGGTATAAGATGTTCTTTATGTGAAGTTATTTTGAAGCATAATGTGTATACAGAACAGTGCACAGATCATAACTGCACAACCCCACACGAGGAACAGAACATTACCAAGACCCCAGAAGCCCCTTCTTGTCTTCTCCCAGGCACTAACTCGCCCACCCCCAGCTAAGAGTAATTTCCATCCAAATTTCTAACTTTATTTTTACCTGGTTTTGAACTTTATATGGATGAAAACATACAGAACATATCTTTTGCATTGAGTTTCTCTTATGTAACATTATTTTTATGAGATTCATCTGTGTGAGTAGGTATAGTTGTAGCTTGTTAATTCTCCTCATTGGGTATTCTAATGTATAAACATACCACAGTTTAATAACTCATTCTATTGTTGGACAATCGGGCTATTTCCAATTTTTGGCTTTTGTAAATAAAGCTGCTTTGAACATTCTTGCATAGTTTTTTGGTGGGTGGGGACACTCAGTCATCTAGAAGTGGGATTGCTGAGTTATAGAATATATTTGTCTCTCAGCTTTATAGAACCTTTGCAACATTTTAATGAATGTTTTTAATCTCACAGTATAGTGTGGATTAAATTAGGTTGTGGAAAGTACTCAATACGGCCCTTGGCAGACAGGAGTCCCTCAGTACCTGTTTAAAAATGTAAATAAGGCATGACATTCCATTAAGTCTAAGTACCATGATGAACTTAAACATTTCCCTATTGTTTGTTTATTTAATTGCTTTTATTGTGTTGTTATTTTATATCATGTTGCAATGAATGATTCTCTTTATAGCAGGTTTCTTCTTTTGAAAAATTTGCTTTGGTTGATTCTCAGGGAATTGAATCAAAGGATATATGACTGTAAGACCTGTCACCCTTAAAAAGGACTATGAGGGCTTGCTGAGGAGGGGAAAACAAGGAAGCAAGTCTCTCCTACCATGGCCCAGGGGACTGTGAGGACAGAAGGCTTGTGGGTTTGAGGGAGGACTGTCTTGCAGAGGATGATAGGGTAAAATAGAATGAAGGATGATTTTTATAAATGGTTATGCGCCTTAGGATGACTACATATTTAGTCCCTTATAAGAGAAATTGAGTAGTTGGTAAAACAACAGATAATAATTATTAAATGAGGAAAGAGAGAAACCACAGGTGCAAAGATTCACTTTATTTATTCATTCTCCTCCAACATTAGCATAATTAAAGCCAAGGAGGAGGAGGGGGGTGAGGTGAAAGATGAGCTGGAGGACCGCAATAGGGGTAGGTCCCCTGTGGAAAAAGGGTCAGAGGCCAAAGGATGGGAGGGGGTCAGGCTGGAACTGAGGAGCAGGTGGGGGCACTTCTCCCTCTAACACTCTCCCCTGTTGAAGCTCTTTGTGACGGGCGAGCTCAGGCCCTGATGGGTGACTTCGCAGGCGTAGACTTTGTGTTTCTCGTAGTCTGCTTTGCTCAGCGTCAGGGTGCTGCTGAGGCTGTAGGTGCTGTCCTTGCTGTCCTGCTCTGTGACACTCTCCTGGGAGTTACCCGATTGGAGGGCGTTATCCACCTTCCGCTGTACTTTGGCCTCTCTGGGATAGAAGTTATTCAGCAGGCACACAACAGAGGCAGTTCCAGATTTCAACTGCTCATCAGATGGCGGGAAGATGAAGACAGATGGTGCAGCCACAGTTCCTGAGGAAAGAAGCAAACAGGATGGTGTTTAAGTAACAAAGTTCTGCCCTTGGGTGTGTTGTTTGCGGATAATCACAGGGCATGTTAGGGACAGACAGAAAACAGCATGCTTATCCCAGATAATTATAGCAAGGAGACCAAGAAGCGTATTTAAAATCTTGATGTTTTGAGTTTCTTCCTAGCTTCCCCCTATTCCTTAATAAAGTTCTAAATTGTTTTGTTGGAGCTCTTTGCAGCCATTCTGAGGGCTTTGCATGCTTTTCTGACCTTGCAGTAAACTCAATGCTTTAGGCAAAGAATGGCCACGTCATCCGACCCCCTCAGAGTTTAGAATTCAGAACAGGTCTGAAGAAGACCAGGCAGCGGCTGAGTCAAGGAAAGCCTCCGTCCGCTTTTATTTCCCCTGTGCCTCTTCCAGGACTGTGCTGGGATAACAGGCTCCCGGGGGTTACTTTGGCTGGGCTGGGCTAAAACCTCCCTGCAGAGCAGGCCCTGAGCCCTGCCTCTGCGCCTGGGTGGTGTCAGCCCCTCCACCTTCTGACTGTTCCAGCAACTCTCTAAGCCCTCCCAAAGGCCTCAAGGCCTGTAACCATATGCAGCAATTTTCAGCCATACCAGGAGAGGTCAACTGTAATCTTGGCCACCTGCCTAAGAGGAAGTGGCTAGCTTCACTTCTGACCCTCAGCAACTGCCAGGTGGCCTCTTGGAAATCCCCCTCTGGGGGATTCCACCCGTTGGGTGGGAGAGCAGTAGTTAAAATGTAAAATAAGAATCTTTTGCTGGGAGAAGTCAACAGATAGGGAGAAGTCAGCTGATAACAGAAATAGTTTTTTTTTTTTTTAAAACTAACTTCACTGTTAACCAAGCAGTTCAACATGAAAGACTGAATCTCTTATGTTTAATATTTTCTTCTCTTTTAATCTTCATAACTAATTTTTTTCAGATAATTGTATAAAATAACCATGGTAGCAAAATAATGTGATCACTGGAAAATAAGCAGGGAAAAACATGCTATGAAGATACTCCTATCTGGGTGAATTCTTGATAGCTTTACATTTTTCATCTGGCATTTAAACATTAAACAGTTAATGTATTTGACATGAAAATTATTTCAAGTTATCTTATTAGTTTTAATAGAGTTTAAAAAGTGTTTAAAAGAGTTTTCAAAAGGCTCTAAAATCATTTTGAAATAGTTTAAAACAGTTTTGAATCGTTGTAAGTTAGTTTTAATAGAGCTTTAAAAAGGCCCTAAAATAGTCCTATCAAGTTGTTGCAGACCAAAATAATCTCCTTAAATATCACTTTTGAGATCAGCTGGGGTAAACGACAGCAACACAATGACAAATCATTAAACTATTTTAGAGATTATGAAATTAAAATACTCAGATTAAAATTTTCCTATCACAGAATTAAGGTACTGGAAAATATGTTTAAGTTTTTATTAATCACATTGCTATAGGTTTAGATATTTTGTACAACTGAAATAAAATCACACACTGGCAGCTACATTTTTGAAAGTTAAAAACATGGTCACGAATATATCTTATTTTAAAATCAGTTAATATACCTTAATGGTATTTAATGCCAAATTCAAAGTGAATTGATCAAGCCCTCAGTGGCCAGGTCATGGGTGTGATTTTTACTCTGAAAGAATTACATATTTCTTTCTTTTTGGTTGAGCTTTTGTTATTTAAATACATTTGATGAGAGGATATTGAAATAATTAAATAGCACTGAAAAAAAAAAAAGCTTTAAATTATTTACAATCCCCTAATGGAAATTTTCACTAATGAGATATCATAATGAATGTGAATTTTATTTCTGAAATCTCTAATAAATCAGTCTTCTCCCTGGTTTTCCCAGCTCAGCGCCCATTACGTTTCTGTTCTCTTTCCCTTAGTGGCATTATTTGTATCACTGTGCATCAG
Task1_train_3828
This gene mutation involves LOC129934333, TMEM127 (ATAC-STARR-seq lymphoblastoid silent region 11759| transmembrane protein 127) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
Pathogenic; Hereditary cancer-predisposing syndrome
TCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGGCATCATTTTATATTGGCATCAACAGAGGTGGGGTAGTCCCAGCTCTGCCACCCTAAACTGGGTAGCCTTGGGGAGATCCTTCATTTTTCTGAGCCACAGCTAAGCACACCCCATGCAGTGCTAGATTTCGGAGATCTAGCTTTCTAGATCTGATGGGTCTAGTGGTGGGAAGGTGGTATGTGTGCTTCAAAGAAAGCAAGTACAGGGCAATGTGCTAAAAGAAAAACCACCAAGACTCACTCAAGCTTAATGCTCTTTGTGCCATTAGCAACATGACAGAGAAAAGGCTGCATATAAGGCCTCTGTCGTGTGCATAACTTTGGCTTTAATGAGCCAACCCAGCAAAGAGTACCATTAAGGTGAAATCTGGAAACAACCAGTTGTCCCCAACCTTCTACAAAATCACCCTACAGCTTCTAAAACTCAAGAGAGATGCAAAACAGTAAGAGAACACTCAGAGAAAGGCAACATTTGGCCACAAGGATGAGGCTTTTCAGCCTAGACCTGCAGAAGCAGAGTATGGTCCGATGCACAGCGGGGAACTTGGACCTTTTCACCAAATCCCAGTGCCTGAATTCTTCAGGAGGTAACACGCAGATATCTAACAGGAAGTGCTTCTGATAGGCGGTGCAGTAAACATCTGGAATGCATCACAGCCAGGGAATAGCACAGACAGGATAGCACAGAGAGGATATAAGACCTTCAAGATGGCTCAAAAGACCTTGGGGTTGATGAACTATGCTGTTACTAAGGACTGTTTGGGGTACATTGATCATTGTTAGGGTAAAAAGCAGGTGATACAGTCCAGTCCTGTCCTCACACTTCACAATTTTTACTGGAGACAAGAATGGGCAGGATAAACTATGGGGCCCATAGGACCCTCCCATCGTCTGCTGTCTATCTGGCCGGAAAGCATGATGATGAACAAAGCAACCTTGCCTCTGTCAGGCACACCTATAATGGTTCCAAGAGCCACATTCCGACTGTTGTACTGCGGGTGGCAATGGAACGGTCTTCCGATTACCTAAAATGCCACAGATTCCCTTCTTCTCTAATACGCATCCGATTACCATAGAACTCTAAGATATCTTTTAAAACCTAGTCATATTAAAAGTTCCTTTTTCTCCATTAATCAGTCTGCCCCAAAGAAGCTTTTCCGTATTTCACAGGATCCTTAGAAGAGGCCAGCTAACTGTGATACCTAGCACCCTTATCTTTTCTCGATACACAGCGTCCTTCCTCCAGCAGAATCCTAAAATAGCAGCAGTCCGGATTAACATGGCTGTGAGGAGTAGGTGCTTAGCTGAATAACATCAGAATTAATGAGGGGCCGGACCCCAAACAGAGCCACCTGGTGGGCATGAACACCAGGCAGTTATGGGGCCGTTTCCTTCAACCAAGTGTCTGGTCCCTGGCTATCTCTGCTTCAGCCAGAACACATTCTGTCCCCCACCGAGGCTTTAAGGGCCAGCGCGCAGCACCCTCACCTTTCAGCAGGTCCGGGTGCACATAGCCCAACACGTCGGAGACCCCCAGCTCCTGGCGCGAACAGGTGCCTCCGTGGATGTGCAACCAGGCGGGCTCGGCGAGGGCAGTGCACAGCGCCGTGATAGACAGGGCGCCAGGCAGGGCCGAGGCCAGGCTACGCTCCGGCTGCTTGGGCAGAGCGCTGCCTCCCGGGCTCCTCCGCCGGCGCCCGCCGGGCAGCCCTGCGCCTCCGGGGGCGTACATGCCCGGGGCCGCCCGCCGTCGCTCCGCAGTCGCTGCTGGTCGCCGCCGACCTCCGCGGGGCGCGCAGAGCCTGACAGTCCGGTGGAGGATAGCAACGCTCCGGGTTCGCTGCAGGTGAAGCCGGGACTGGGCTGTCAGGGTTGACACCAGAGGATAGGGGGGTGGGACCCGGGGCTGACGGAGACGGGGAGGGCTGCGGGAATTCGGGGGGCGGAGACAGGAGACTCCGGAATGGGACTGCGGGACGACAACCGAAGAGGGCCAGGGGCCAGATGGGGTCTGGGCAGACTCGAGTGGGGGGCGGAGGGATCGGGGATCGGCTACTGCTAGAGCAAAGACCCGGAGTCAGGGTCTCAGCCAGAGGATGCCGAGGGGCGGAGGACCGGGCTGGGCCGCGGGGATCGGGGACCCGTGATCTGGGACCGGCGGTTTGGGGTGCGACCTGTGCGCAGAAAAGACCCTCCCCACGCCGCCCACTGTTCCTCACCAGTCAGCAGGCCCCAGGGCTGGGATGGTGCTGCTCAGCCCAGTCACGGGCTTCTCGGCTGCCGGGGGCCGAGCGTTCCCAGGCCCCAATCCCGCAACGCCCGGACAGACCCGGGGCCGATGCACTTCCGGCTTCCTCCTCCTCTGCCTCCGCCTCCTCCGGCTCCCCGCCCCGTCCCCCGCGCGCGTCACAGCCTGGGCGCGCCGCCGGCTCTGCGCAGGGCCTCACGGGACTGGTAGTTCGAGGCGGTCCCGCGATGCTTTCCCTGCCGAGGTGAGGGGAGCGACTACAACTCCCAGAGGGTATGGCGGCCGCAGCAGTGGGCAGTTGAGTTTCCGGGGCGACCCAGGTCCTCCGGCGGAAGCGGGAGCCTCTGTCGGCCGCGGAAGCCTGGAGTGGGCGGTACGCAGACGCGCGCGGTGAGACCCGCTGTCTGCTCAGCGGACTCTGCCCGCCCCCACCTCCCCCTGCGTCGGGCCGACATGAAGGACTCGCTGGTGCTGCTGGGCCGTGTCCCGGCGCACCCGGACTCCCGCTGCTGGTTCCTGGCCTGGAACCCCGCGGGGACCCTGCTGGCCTCGTGCGGCGGCGACCGGAGAATCCGCATCTGGGGCACGGAGGGTAAGGCCCAGCCTGGTTGCGCGGCCCTCAGCGCTGAGGGCTCAGCCTGCGCGTAGTGCAGGCGCTCAGCCTGCAGGGGAGGCTGAACCTGTTCCTGGCGGAGGGAGAGTGGGATGTTAGCCACGCCGAGAAGGGCTTTACAGGCAAAGAAGTCTGCGACTGTTGGGAGGAAAAACGTCAGCAGACAAGCTGAAATGTCAAGGGAATTGTGTTAGCTGCAGAGGCAGGAAAATGGGAAAAGAGAGGTGTTAGGAAAGTGGCCTTCAGAGTAACTTGCGACTGGATGGTCACATTTTATCCCGAGGGCATTGGGGAACCAATAGCAATTTTAGATCAGATTTGTTTTAGAAAGATGCCTCCAGAGGTTGGGCGCGGTGGCTCACGCCTGTAATCCTAGCAGTTTGGGAAGCAGAGGCGGGTAGATCACCTGAGGTCAAGAGGTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAATTAGCTGGGCGTTGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCGAAGATTGCAGTGAGCCGAGATTGTGCCATTGCACCCCAGCCTGGGCATCAGAGCAAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTTCCAGACGAAGTAGATTCATTTGCATCTTTGTAAAAGCTGTGAAATACACTCCCTGAGCTTTCCCCCACTAGCTTGATTCCAGTGCTAGCCCCTGATATTGAATGGCTTCATGGTGCTGCACCCAGCTCCAGAGCCTGGCCTGCGCTCCGCCTTTAGGTGACAGCTGGATCTGCAAGTCTGTCCTTTCTGAAGGCCACCAGCGCACCGTGCGGAAGGTAGCCTGGTCCCCCTGCGGTAATTACCTGGCCTCTGCCAGCTTTGA
TCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGGCATCATTTTATATTGGCATCAACAGAGGTGGGGTAGTCCCAGCTCTGCCACCCTAAACTGGGTAGCCTTGGGGAGATCCTTCATTTTTCTGAGCCACAGCTAAGCACACCCCATGCAGTGCTAGATTTCGGAGATCTAGCTTTCTAGATCTGATGGGTCTAGTGGTGGGAAGGTGGTATGTGTGCTTCAAAGAAAGCAAGTACAGGGCAATGTGCTAAAAGAAAAACCACCAAGACTCACTCAAGCTTAATGCTCTTTGTGCCATTAGCAACATGACAGAGAAAAGGCTGCATATAAGGCCTCTGTCGTGTGCATAACTTTGGCTTTAATGAGCCAACCCAGCAAAGAGTACCATTAAGGTGAAATCTGGAAACAACCAGTTGTCCCCAACCTTCTACAAAATCACCCTACAGCTTCTAAAACTCAAGAGAGATGCAAAACAGTAAGAGAACACTCAGAGAAAGGCAACATTTGGCCACAAGGATGAGGCTTTTCAGCCTAGACCTGCAGAAGCAGAGTATGGTCCGATGCACAGCGGGGAACTTGGACCTTTTCACCAAATCCCAGTGCCTGAATTCTTCAGGAGGTAACACGCAGATATCTAACAGGAAGTGCTTCTGATAGGCGGTGCAGTAAACATCTGGAATGCATCACAGCCAGGGAATAGCACAGACAGGATAGCACAGAGAGGATATAAGACCTTCAAGATGGCTCAAAAGACCTTGGGGTTGATGAACTATGCTGTTACTAAGGACTGTTTGGGGTACATTGATCATTGTTAGGGTAAAAAGCAGGTGATACAGTCCAGTCCTGTCCTCACACTTCACAATTTTTACTGGAGACAAGAATGGGCAGGATAAACTATGGGGCCCATAGGACCCTCCCATCGTCTGCTGTCTATCTGGCCGGAAAGCATGATGATGAACAAAGCAACCTTGCCTCTGTCAGGCACACCTATAATGGTTCCAAGAGCCACATTCCGACTGTTGTACTGCGGGTGGCAATGGAACGGTCTTCCGATTACCTAAAATGCCACAGATTCCCTTCTTCTCTAATACGCATCCGATTACCATAGAACTCTAAGATATCTTTTAAAACCTAGTCATATTAAAAGTTCCTTTTTCTCCATTAATCAGTCTGCCCCAAAGAAGCTTTTCCGTATTTCACAGGATCCTTAGAAGAGGCCAGCTAACTGTGATACCTAGCACCCTTATCTTTTCTCGATACACAGCGTCCTTCCTCCAGCAGAATCCTAAAATAGCAGCAGTCCGGATTAACATGGCTGTGAGGAGTAGGTGCTTAGCTGAATAACATCAGAATTAATGAGGGGCCGGACCCCAAACAGAGCCACCTGGTGGGCATGAACACCAGGCAGTTATGGGGCCGTTTCCTTCAACCAAGTGTCTGGTCCCTGGCTATCTCTGCTTCAGCCAGAACACATTCTGTCCCCCACCGAGGCTTTAAGGGCCAGCGCGCAGCACCCTCACCTTTCAGCAGGTCCGGGTGCACATAGCCCAACACGTCGGAGACCCCCAGCTCCTGGCGCGAACAGGTGCCTCCGTGGATGTGCAACCAGGCGGGCTCGGCGAGGGCAGTGCACAGCGCCGTGATAGACAGGGCGCCAGGCAGGGCCGAGGCCAGGCTACGCTCCGGCTGCTTGGGCAGAGCGCTGCCTCCCGGGCTCCTCCGCCGGCGCCCGCCGGGCAGCCCTGCGCCTCCGGGGGCGTATATGCCCGGGGCCGCCCGCCGTCGCTCCGCAGTCGCTGCTGGTCGCCGCCGACCTCCGCGGGGCGCGCAGAGCCTGACAGTCCGGTGGAGGATAGCAACGCTCCGGGTTCGCTGCAGGTGAAGCCGGGACTGGGCTGTCAGGGTTGACACCAGAGGATAGGGGGGTGGGACCCGGGGCTGACGGAGACGGGGAGGGCTGCGGGAATTCGGGGGGCGGAGACAGGAGACTCCGGAATGGGACTGCGGGACGACAACCGAAGAGGGCCAGGGGCCAGATGGGGTCTGGGCAGACTCGAGTGGGGGGCGGAGGGATCGGGGATCGGCTACTGCTAGAGCAAAGACCCGGAGTCAGGGTCTCAGCCAGAGGATGCCGAGGGGCGGAGGACCGGGCTGGGCCGCGGGGATCGGGGACCCGTGATCTGGGACCGGCGGTTTGGGGTGCGACCTGTGCGCAGAAAAGACCCTCCCCACGCCGCCCACTGTTCCTCACCAGTCAGCAGGCCCCAGGGCTGGGATGGTGCTGCTCAGCCCAGTCACGGGCTTCTCGGCTGCCGGGGGCCGAGCGTTCCCAGGCCCCAATCCCGCAACGCCCGGACAGACCCGGGGCCGATGCACTTCCGGCTTCCTCCTCCTCTGCCTCCGCCTCCTCCGGCTCCCCGCCCCGTCCCCCGCGCGCGTCACAGCCTGGGCGCGCCGCCGGCTCTGCGCAGGGCCTCACGGGACTGGTAGTTCGAGGCGGTCCCGCGATGCTTTCCCTGCCGAGGTGAGGGGAGCGACTACAACTCCCAGAGGGTATGGCGGCCGCAGCAGTGGGCAGTTGAGTTTCCGGGGCGACCCAGGTCCTCCGGCGGAAGCGGGAGCCTCTGTCGGCCGCGGAAGCCTGGAGTGGGCGGTACGCAGACGCGCGCGGTGAGACCCGCTGTCTGCTCAGCGGACTCTGCCCGCCCCCACCTCCCCCTGCGTCGGGCCGACATGAAGGACTCGCTGGTGCTGCTGGGCCGTGTCCCGGCGCACCCGGACTCCCGCTGCTGGTTCCTGGCCTGGAACCCCGCGGGGACCCTGCTGGCCTCGTGCGGCGGCGACCGGAGAATCCGCATCTGGGGCACGGAGGGTAAGGCCCAGCCTGGTTGCGCGGCCCTCAGCGCTGAGGGCTCAGCCTGCGCGTAGTGCAGGCGCTCAGCCTGCAGGGGAGGCTGAACCTGTTCCTGGCGGAGGGAGAGTGGGATGTTAGCCACGCCGAGAAGGGCTTTACAGGCAAAGAAGTCTGCGACTGTTGGGAGGAAAAACGTCAGCAGACAAGCTGAAATGTCAAGGGAATTGTGTTAGCTGCAGAGGCAGGAAAATGGGAAAAGAGAGGTGTTAGGAAAGTGGCCTTCAGAGTAACTTGCGACTGGATGGTCACATTTTATCCCGAGGGCATTGGGGAACCAATAGCAATTTTAGATCAGATTTGTTTTAGAAAGATGCCTCCAGAGGTTGGGCGCGGTGGCTCACGCCTGTAATCCTAGCAGTTTGGGAAGCAGAGGCGGGTAGATCACCTGAGGTCAAGAGGTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAATTAGCTGGGCGTTGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCGAAGATTGCAGTGAGCCGAGATTGTGCCATTGCACCCCAGCCTGGGCATCAGAGCAAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTTCCAGACGAAGTAGATTCATTTGCATCTTTGTAAAAGCTGTGAAATACACTCCCTGAGCTTTCCCCCACTAGCTTGATTCCAGTGCTAGCCCCTGATATTGAATGGCTTCATGGTGCTGCACCCAGCTCCAGAGCCTGGCCTGCGCTCCGCCTTTAGGTGACAGCTGGATCTGCAAGTCTGTCCTTTCTGAAGGCCACCAGCGCACCGTGCGGAAGGTAGCCTGGTCCCCCTGCGGTAATTACCTGGCCTCTGCCAGCTTTGA
Task1_train_3829
A variant affecting Chromosome 2, within the gene LOC129934333, TMEM127 (ATAC-STARR-seq lymphoblastoid silent region 11759| transmembrane protein 127), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Hereditary pheochromocytoma-paraganglioma
TCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGGCATCATTTTATATTGGCATCAACAGAGGTGGGGTAGTCCCAGCTCTGCCACCCTAAACTGGGTAGCCTTGGGGAGATCCTTCATTTTTCTGAGCCACAGCTAAGCACACCCCATGCAGTGCTAGATTTCGGAGATCTAGCTTTCTAGATCTGATGGGTCTAGTGGTGGGAAGGTGGTATGTGTGCTTCAAAGAAAGCAAGTACAGGGCAATGTGCTAAAAGAAAAACCACCAAGACTCACTCAAGCTTAATGCTCTTTGTGCCATTAGCAACATGACAGAGAAAAGGCTGCATATAAGGCCTCTGTCGTGTGCATAACTTTGGCTTTAATGAGCCAACCCAGCAAAGAGTACCATTAAGGTGAAATCTGGAAACAACCAGTTGTCCCCAACCTTCTACAAAATCACCCTACAGCTTCTAAAACTCAAGAGAGATGCAAAACAGTAAGAGAACACTCAGAGAAAGGCAACATTTGGCCACAAGGATGAGGCTTTTCAGCCTAGACCTGCAGAAGCAGAGTATGGTCCGATGCACAGCGGGGAACTTGGACCTTTTCACCAAATCCCAGTGCCTGAATTCTTCAGGAGGTAACACGCAGATATCTAACAGGAAGTGCTTCTGATAGGCGGTGCAGTAAACATCTGGAATGCATCACAGCCAGGGAATAGCACAGACAGGATAGCACAGAGAGGATATAAGACCTTCAAGATGGCTCAAAAGACCTTGGGGTTGATGAACTATGCTGTTACTAAGGACTGTTTGGGGTACATTGATCATTGTTAGGGTAAAAAGCAGGTGATACAGTCCAGTCCTGTCCTCACACTTCACAATTTTTACTGGAGACAAGAATGGGCAGGATAAACTATGGGGCCCATAGGACCCTCCCATCGTCTGCTGTCTATCTGGCCGGAAAGCATGATGATGAACAAAGCAACCTTGCCTCTGTCAGGCACACCTATAATGGTTCCAAGAGCCACATTCCGACTGTTGTACTGCGGGTGGCAATGGAACGGTCTTCCGATTACCTAAAATGCCACAGATTCCCTTCTTCTCTAATACGCATCCGATTACCATAGAACTCTAAGATATCTTTTAAAACCTAGTCATATTAAAAGTTCCTTTTTCTCCATTAATCAGTCTGCCCCAAAGAAGCTTTTCCGTATTTCACAGGATCCTTAGAAGAGGCCAGCTAACTGTGATACCTAGCACCCTTATCTTTTCTCGATACACAGCGTCCTTCCTCCAGCAGAATCCTAAAATAGCAGCAGTCCGGATTAACATGGCTGTGAGGAGTAGGTGCTTAGCTGAATAACATCAGAATTAATGAGGGGCCGGACCCCAAACAGAGCCACCTGGTGGGCATGAACACCAGGCAGTTATGGGGCCGTTTCCTTCAACCAAGTGTCTGGTCCCTGGCTATCTCTGCTTCAGCCAGAACACATTCTGTCCCCCACCGAGGCTTTAAGGGCCAGCGCGCAGCACCCTCACCTTTCAGCAGGTCCGGGTGCACATAGCCCAACACGTCGGAGACCCCCAGCTCCTGGCGCGAACAGGTGCCTCCGTGGATGTGCAACCAGGCGGGCTCGGCGAGGGCAGTGCACAGCGCCGTGATAGACAGGGCGCCAGGCAGGGCCGAGGCCAGGCTACGCTCCGGCTGCTTGGGCAGAGCGCTGCCTCCCGGGCTCCTCCGCCGGCGCCCGCCGGGCAGCCCTGCGCCTCCGGGGGCGTACATGCCCGGGGCCGCCCGCCGTCGCTCCGCAGTCGCTGCTGGTCGCCGCCGACCTCCGCGGGGCGCGCAGAGCCTGACAGTCCGGTGGAGGATAGCAACGCTCCGGGTTCGCTGCAGGTGAAGCCGGGACTGGGCTGTCAGGGTTGACACCAGAGGATAGGGGGGTGGGACCCGGGGCTGACGGAGACGGGGAGGGCTGCGGGAATTCGGGGGGCGGAGACAGGAGACTCCGGAATGGGACTGCGGGACGACAACCGAAGAGGGCCAGGGGCCAGATGGGGTCTGGGCAGACTCGAGTGGGGGGCGGAGGGATCGGGGATCGGCTACTGCTAGAGCAAAGACCCGGAGTCAGGGTCTCAGCCAGAGGATGCCGAGGGGCGGAGGACCGGGCTGGGCCGCGGGGATCGGGGACCCGTGATCTGGGACCGGCGGTTTGGGGTGCGACCTGTGCGCAGAAAAGACCCTCCCCACGCCGCCCACTGTTCCTCACCAGTCAGCAGGCCCCAGGGCTGGGATGGTGCTGCTCAGCCCAGTCACGGGCTTCTCGGCTGCCGGGGGCCGAGCGTTCCCAGGCCCCAATCCCGCAACGCCCGGACAGACCCGGGGCCGATGCACTTCCGGCTTCCTCCTCCTCTGCCTCCGCCTCCTCCGGCTCCCCGCCCCGTCCCCCGCGCGCGTCACAGCCTGGGCGCGCCGCCGGCTCTGCGCAGGGCCTCACGGGACTGGTAGTTCGAGGCGGTCCCGCGATGCTTTCCCTGCCGAGGTGAGGGGAGCGACTACAACTCCCAGAGGGTATGGCGGCCGCAGCAGTGGGCAGTTGAGTTTCCGGGGCGACCCAGGTCCTCCGGCGGAAGCGGGAGCCTCTGTCGGCCGCGGAAGCCTGGAGTGGGCGGTACGCAGACGCGCGCGGTGAGACCCGCTGTCTGCTCAGCGGACTCTGCCCGCCCCCACCTCCCCCTGCGTCGGGCCGACATGAAGGACTCGCTGGTGCTGCTGGGCCGTGTCCCGGCGCACCCGGACTCCCGCTGCTGGTTCCTGGCCTGGAACCCCGCGGGGACCCTGCTGGCCTCGTGCGGCGGCGACCGGAGAATCCGCATCTGGGGCACGGAGGGTAAGGCCCAGCCTGGTTGCGCGGCCCTCAGCGCTGAGGGCTCAGCCTGCGCGTAGTGCAGGCGCTCAGCCTGCAGGGGAGGCTGAACCTGTTCCTGGCGGAGGGAGAGTGGGATGTTAGCCACGCCGAGAAGGGCTTTACAGGCAAAGAAGTCTGCGACTGTTGGGAGGAAAAACGTCAGCAGACAAGCTGAAATGTCAAGGGAATTGTGTTAGCTGCAGAGGCAGGAAAATGGGAAAAGAGAGGTGTTAGGAAAGTGGCCTTCAGAGTAACTTGCGACTGGATGGTCACATTTTATCCCGAGGGCATTGGGGAACCAATAGCAATTTTAGATCAGATTTGTTTTAGAAAGATGCCTCCAGAGGTTGGGCGCGGTGGCTCACGCCTGTAATCCTAGCAGTTTGGGAAGCAGAGGCGGGTAGATCACCTGAGGTCAAGAGGTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAATTAGCTGGGCGTTGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCGAAGATTGCAGTGAGCCGAGATTGTGCCATTGCACCCCAGCCTGGGCATCAGAGCAAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTTCCAGACGAAGTAGATTCATTTGCATCTTTGTAAAAGCTGTGAAATACACTCCCTGAGCTTTCCCCCACTAGCTTGATTCCAGTGCTAGCCCCTGATATTGAATGGCTTCATGGTGCTGCACCCAGCTCCAGAGCCTGGCCTGCGCTCCGCCTTTAGGTGACAGCTGGATCTGCAAGTCTGTCCTTTCTGAAGGCCACCAGCGCACCGTGCGGAAGGTAGCCTGGTCCCCCTGCGGTAATTACCTGGCCTCTGCCAGCTTTGA
TCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGGCATCATTTTATATTGGCATCAACAGAGGTGGGGTAGTCCCAGCTCTGCCACCCTAAACTGGGTAGCCTTGGGGAGATCCTTCATTTTTCTGAGCCACAGCTAAGCACACCCCATGCAGTGCTAGATTTCGGAGATCTAGCTTTCTAGATCTGATGGGTCTAGTGGTGGGAAGGTGGTATGTGTGCTTCAAAGAAAGCAAGTACAGGGCAATGTGCTAAAAGAAAAACCACCAAGACTCACTCAAGCTTAATGCTCTTTGTGCCATTAGCAACATGACAGAGAAAAGGCTGCATATAAGGCCTCTGTCGTGTGCATAACTTTGGCTTTAATGAGCCAACCCAGCAAAGAGTACCATTAAGGTGAAATCTGGAAACAACCAGTTGTCCCCAACCTTCTACAAAATCACCCTACAGCTTCTAAAACTCAAGAGAGATGCAAAACAGTAAGAGAACACTCAGAGAAAGGCAACATTTGGCCACAAGGATGAGGCTTTTCAGCCTAGACCTGCAGAAGCAGAGTATGGTCCGATGCACAGCGGGGAACTTGGACCTTTTCACCAAATCCCAGTGCCTGAATTCTTCAGGAGGTAACACGCAGATATCTAACAGGAAGTGCTTCTGATAGGCGGTGCAGTAAACATCTGGAATGCATCACAGCCAGGGAATAGCACAGACAGGATAGCACAGAGAGGATATAAGACCTTCAAGATGGCTCAAAAGACCTTGGGGTTGATGAACTATGCTGTTACTAAGGACTGTTTGGGGTACATTGATCATTGTTAGGGTAAAAAGCAGGTGATACAGTCCAGTCCTGTCCTCACACTTCACAATTTTTACTGGAGACAAGAATGGGCAGGATAAACTATGGGGCCCATAGGACCCTCCCATCGTCTGCTGTCTATCTGGCCGGAAAGCATGATGATGAACAAAGCAACCTTGCCTCTGTCAGGCACACCTATAATGGTTCCAAGAGCCACATTCCGACTGTTGTACTGCGGGTGGCAATGGAACGGTCTTCCGATTACCTAAAATGCCACAGATTCCCTTCTTCTCTAATACGCATCCGATTACCATAGAACTCTAAGATATCTTTTAAAACCTAGTCATATTAAAAGTTCCTTTTTCTCCATTAATCAGTCTGCCCCAAAGAAGCTTTTCCGTATTTCACAGGATCCTTAGAAGAGGCCAGCTAACTGTGATACCTAGCACCCTTATCTTTTCTCGATACACAGCGTCCTTCCTCCAGCAGAATCCTAAAATAGCAGCAGTCCGGATTAACATGGCTGTGAGGAGTAGGTGCTTAGCTGAATAACATCAGAATTAATGAGGGGCCGGACCCCAAACAGAGCCACCTGGTGGGCATGAACACCAGGCAGTTATGGGGCCGTTTCCTTCAACCAAGTGTCTGGTCCCTGGCTATCTCTGCTTCAGCCAGAACACATTCTGTCCCCCACCGAGGCTTTAAGGGCCAGCGCGCAGCACCCTCACCTTTCAGCAGGTCCGGGTGCACATAGCCCAACACGTCGGAGACCCCCAGCTCCTGGCGCGAACAGGTGCCTCCGTGGATGTGCAACCAGGCGGGCTCGGCGAGGGCAGTGCACAGCGCCGTGATAGACAGGGCGCCAGGCAGGGCCGAGGCCAGGCTACGCTCCGGCTGCTTGGGCAGAGCGCTGCCTCCCGGGCTCCTCCGCCGGCGCCCGCCGGGCAGCCCTGCGCCTCCGGGGGCGTATATGCCCGGGGCCGCCCGCCGTCGCTCCGCAGTCGCTGCTGGTCGCCGCCGACCTCCGCGGGGCGCGCAGAGCCTGACAGTCCGGTGGAGGATAGCAACGCTCCGGGTTCGCTGCAGGTGAAGCCGGGACTGGGCTGTCAGGGTTGACACCAGAGGATAGGGGGGTGGGACCCGGGGCTGACGGAGACGGGGAGGGCTGCGGGAATTCGGGGGGCGGAGACAGGAGACTCCGGAATGGGACTGCGGGACGACAACCGAAGAGGGCCAGGGGCCAGATGGGGTCTGGGCAGACTCGAGTGGGGGGCGGAGGGATCGGGGATCGGCTACTGCTAGAGCAAAGACCCGGAGTCAGGGTCTCAGCCAGAGGATGCCGAGGGGCGGAGGACCGGGCTGGGCCGCGGGGATCGGGGACCCGTGATCTGGGACCGGCGGTTTGGGGTGCGACCTGTGCGCAGAAAAGACCCTCCCCACGCCGCCCACTGTTCCTCACCAGTCAGCAGGCCCCAGGGCTGGGATGGTGCTGCTCAGCCCAGTCACGGGCTTCTCGGCTGCCGGGGGCCGAGCGTTCCCAGGCCCCAATCCCGCAACGCCCGGACAGACCCGGGGCCGATGCACTTCCGGCTTCCTCCTCCTCTGCCTCCGCCTCCTCCGGCTCCCCGCCCCGTCCCCCGCGCGCGTCACAGCCTGGGCGCGCCGCCGGCTCTGCGCAGGGCCTCACGGGACTGGTAGTTCGAGGCGGTCCCGCGATGCTTTCCCTGCCGAGGTGAGGGGAGCGACTACAACTCCCAGAGGGTATGGCGGCCGCAGCAGTGGGCAGTTGAGTTTCCGGGGCGACCCAGGTCCTCCGGCGGAAGCGGGAGCCTCTGTCGGCCGCGGAAGCCTGGAGTGGGCGGTACGCAGACGCGCGCGGTGAGACCCGCTGTCTGCTCAGCGGACTCTGCCCGCCCCCACCTCCCCCTGCGTCGGGCCGACATGAAGGACTCGCTGGTGCTGCTGGGCCGTGTCCCGGCGCACCCGGACTCCCGCTGCTGGTTCCTGGCCTGGAACCCCGCGGGGACCCTGCTGGCCTCGTGCGGCGGCGACCGGAGAATCCGCATCTGGGGCACGGAGGGTAAGGCCCAGCCTGGTTGCGCGGCCCTCAGCGCTGAGGGCTCAGCCTGCGCGTAGTGCAGGCGCTCAGCCTGCAGGGGAGGCTGAACCTGTTCCTGGCGGAGGGAGAGTGGGATGTTAGCCACGCCGAGAAGGGCTTTACAGGCAAAGAAGTCTGCGACTGTTGGGAGGAAAAACGTCAGCAGACAAGCTGAAATGTCAAGGGAATTGTGTTAGCTGCAGAGGCAGGAAAATGGGAAAAGAGAGGTGTTAGGAAAGTGGCCTTCAGAGTAACTTGCGACTGGATGGTCACATTTTATCCCGAGGGCATTGGGGAACCAATAGCAATTTTAGATCAGATTTGTTTTAGAAAGATGCCTCCAGAGGTTGGGCGCGGTGGCTCACGCCTGTAATCCTAGCAGTTTGGGAAGCAGAGGCGGGTAGATCACCTGAGGTCAAGAGGTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAATTAGCTGGGCGTTGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCGAAGATTGCAGTGAGCCGAGATTGTGCCATTGCACCCCAGCCTGGGCATCAGAGCAAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTTCCAGACGAAGTAGATTCATTTGCATCTTTGTAAAAGCTGTGAAATACACTCCCTGAGCTTTCCCCCACTAGCTTGATTCCAGTGCTAGCCCCTGATATTGAATGGCTTCATGGTGCTGCACCCAGCTCCAGAGCCTGGCCTGCGCTCCGCCTTTAGGTGACAGCTGGATCTGCAAGTCTGTCCTTTCTGAAGGCCACCAGCGCACCGTGCGGAAGGTAGCCTGGTCCCCCTGCGGTAATTACCTGGCCTCTGCCAGCTTTGA
Task1_train_3830
A sequence alteration has been identified in LOC129934333, TMEM127 (ATAC-STARR-seq lymphoblastoid silent region 11759| transmembrane protein 127) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; Hereditary pheochromocytoma-paraganglioma
CAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGGCATCATTTTATATTGGCATCAACAGAGGTGGGGTAGTCCCAGCTCTGCCACCCTAAACTGGGTAGCCTTGGGGAGATCCTTCATTTTTCTGAGCCACAGCTAAGCACACCCCATGCAGTGCTAGATTTCGGAGATCTAGCTTTCTAGATCTGATGGGTCTAGTGGTGGGAAGGTGGTATGTGTGCTTCAAAGAAAGCAAGTACAGGGCAATGTGCTAAAAGAAAAACCACCAAGACTCACTCAAGCTTAATGCTCTTTGTGCCATTAGCAACATGACAGAGAAAAGGCTGCATATAAGGCCTCTGTCGTGTGCATAACTTTGGCTTTAATGAGCCAACCCAGCAAAGAGTACCATTAAGGTGAAATCTGGAAACAACCAGTTGTCCCCAACCTTCTACAAAATCACCCTACAGCTTCTAAAACTCAAGAGAGATGCAAAACAGTAAGAGAACACTCAGAGAAAGGCAACATTTGGCCACAAGGATGAGGCTTTTCAGCCTAGACCTGCAGAAGCAGAGTATGGTCCGATGCACAGCGGGGAACTTGGACCTTTTCACCAAATCCCAGTGCCTGAATTCTTCAGGAGGTAACACGCAGATATCTAACAGGAAGTGCTTCTGATAGGCGGTGCAGTAAACATCTGGAATGCATCACAGCCAGGGAATAGCACAGACAGGATAGCACAGAGAGGATATAAGACCTTCAAGATGGCTCAAAAGACCTTGGGGTTGATGAACTATGCTGTTACTAAGGACTGTTTGGGGTACATTGATCATTGTTAGGGTAAAAAGCAGGTGATACAGTCCAGTCCTGTCCTCACACTTCACAATTTTTACTGGAGACAAGAATGGGCAGGATAAACTATGGGGCCCATAGGACCCTCCCATCGTCTGCTGTCTATCTGGCCGGAAAGCATGATGATGAACAAAGCAACCTTGCCTCTGTCAGGCACACCTATAATGGTTCCAAGAGCCACATTCCGACTGTTGTACTGCGGGTGGCAATGGAACGGTCTTCCGATTACCTAAAATGCCACAGATTCCCTTCTTCTCTAATACGCATCCGATTACCATAGAACTCTAAGATATCTTTTAAAACCTAGTCATATTAAAAGTTCCTTTTTCTCCATTAATCAGTCTGCCCCAAAGAAGCTTTTCCGTATTTCACAGGATCCTTAGAAGAGGCCAGCTAACTGTGATACCTAGCACCCTTATCTTTTCTCGATACACAGCGTCCTTCCTCCAGCAGAATCCTAAAATAGCAGCAGTCCGGATTAACATGGCTGTGAGGAGTAGGTGCTTAGCTGAATAACATCAGAATTAATGAGGGGCCGGACCCCAAACAGAGCCACCTGGTGGGCATGAACACCAGGCAGTTATGGGGCCGTTTCCTTCAACCAAGTGTCTGGTCCCTGGCTATCTCTGCTTCAGCCAGAACACATTCTGTCCCCCACCGAGGCTTTAAGGGCCAGCGCGCAGCACCCTCACCTTTCAGCAGGTCCGGGTGCACATAGCCCAACACGTCGGAGACCCCCAGCTCCTGGCGCGAACAGGTGCCTCCGTGGATGTGCAACCAGGCGGGCTCGGCGAGGGCAGTGCACAGCGCCGTGATAGACAGGGCGCCAGGCAGGGCCGAGGCCAGGCTACGCTCCGGCTGCTTGGGCAGAGCGCTGCCTCCCGGGCTCCTCCGCCGGCGCCCGCCGGGCAGCCCTGCGCCTCCGGGGGCGTACATGCCCGGGGCCGCCCGCCGTCGCTCCGCAGTCGCTGCTGGTCGCCGCCGACCTCCGCGGGGCGCGCAGAGCCTGACAGTCCGGTGGAGGATAGCAACGCTCCGGGTTCGCTGCAGGTGAAGCCGGGACTGGGCTGTCAGGGTTGACACCAGAGGATAGGGGGGTGGGACCCGGGGCTGACGGAGACGGGGAGGGCTGCGGGAATTCGGGGGGCGGAGACAGGAGACTCCGGAATGGGACTGCGGGACGACAACCGAAGAGGGCCAGGGGCCAGATGGGGTCTGGGCAGACTCGAGTGGGGGGCGGAGGGATCGGGGATCGGCTACTGCTAGAGCAAAGACCCGGAGTCAGGGTCTCAGCCAGAGGATGCCGAGGGGCGGAGGACCGGGCTGGGCCGCGGGGATCGGGGACCCGTGATCTGGGACCGGCGGTTTGGGGTGCGACCTGTGCGCAGAAAAGACCCTCCCCACGCCGCCCACTGTTCCTCACCAGTCAGCAGGCCCCAGGGCTGGGATGGTGCTGCTCAGCCCAGTCACGGGCTTCTCGGCTGCCGGGGGCCGAGCGTTCCCAGGCCCCAATCCCGCAACGCCCGGACAGACCCGGGGCCGATGCACTTCCGGCTTCCTCCTCCTCTGCCTCCGCCTCCTCCGGCTCCCCGCCCCGTCCCCCGCGCGCGTCACAGCCTGGGCGCGCCGCCGGCTCTGCGCAGGGCCTCACGGGACTGGTAGTTCGAGGCGGTCCCGCGATGCTTTCCCTGCCGAGGTGAGGGGAGCGACTACAACTCCCAGAGGGTATGGCGGCCGCAGCAGTGGGCAGTTGAGTTTCCGGGGCGACCCAGGTCCTCCGGCGGAAGCGGGAGCCTCTGTCGGCCGCGGAAGCCTGGAGTGGGCGGTACGCAGACGCGCGCGGTGAGACCCGCTGTCTGCTCAGCGGACTCTGCCCGCCCCCACCTCCCCCTGCGTCGGGCCGACATGAAGGACTCGCTGGTGCTGCTGGGCCGTGTCCCGGCGCACCCGGACTCCCGCTGCTGGTTCCTGGCCTGGAACCCCGCGGGGACCCTGCTGGCCTCGTGCGGCGGCGACCGGAGAATCCGCATCTGGGGCACGGAGGGTAAGGCCCAGCCTGGTTGCGCGGCCCTCAGCGCTGAGGGCTCAGCCTGCGCGTAGTGCAGGCGCTCAGCCTGCAGGGGAGGCTGAACCTGTTCCTGGCGGAGGGAGAGTGGGATGTTAGCCACGCCGAGAAGGGCTTTACAGGCAAAGAAGTCTGCGACTGTTGGGAGGAAAAACGTCAGCAGACAAGCTGAAATGTCAAGGGAATTGTGTTAGCTGCAGAGGCAGGAAAATGGGAAAAGAGAGGTGTTAGGAAAGTGGCCTTCAGAGTAACTTGCGACTGGATGGTCACATTTTATCCCGAGGGCATTGGGGAACCAATAGCAATTTTAGATCAGATTTGTTTTAGAAAGATGCCTCCAGAGGTTGGGCGCGGTGGCTCACGCCTGTAATCCTAGCAGTTTGGGAAGCAGAGGCGGGTAGATCACCTGAGGTCAAGAGGTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAATTAGCTGGGCGTTGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCGAAGATTGCAGTGAGCCGAGATTGTGCCATTGCACCCCAGCCTGGGCATCAGAGCAAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTTCCAGACGAAGTAGATTCATTTGCATCTTTGTAAAAGCTGTGAAATACACTCCCTGAGCTTTCCCCCACTAGCTTGATTCCAGTGCTAGCCCCTGATATTGAATGGCTTCATGGTGCTGCACCCAGCTCCAGAGCCTGGCCTGCGCTCCGCCTTTAGGTGACAGCTGGATCTGCAAGTCTGTCCTTTCTGAAGGCCACCAGCGCACCGTGCGGAAGGTAGCCTGGTCCCCCTGCGGTAATTACCTGGCCTCTGCCAGCTTTGAT
CAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGGCATCATTTTATATTGGCATCAACAGAGGTGGGGTAGTCCCAGCTCTGCCACCCTAAACTGGGTAGCCTTGGGGAGATCCTTCATTTTTCTGAGCCACAGCTAAGCACACCCCATGCAGTGCTAGATTTCGGAGATCTAGCTTTCTAGATCTGATGGGTCTAGTGGTGGGAAGGTGGTATGTGTGCTTCAAAGAAAGCAAGTACAGGGCAATGTGCTAAAAGAAAAACCACCAAGACTCACTCAAGCTTAATGCTCTTTGTGCCATTAGCAACATGACAGAGAAAAGGCTGCATATAAGGCCTCTGTCGTGTGCATAACTTTGGCTTTAATGAGCCAACCCAGCAAAGAGTACCATTAAGGTGAAATCTGGAAACAACCAGTTGTCCCCAACCTTCTACAAAATCACCCTACAGCTTCTAAAACTCAAGAGAGATGCAAAACAGTAAGAGAACACTCAGAGAAAGGCAACATTTGGCCACAAGGATGAGGCTTTTCAGCCTAGACCTGCAGAAGCAGAGTATGGTCCGATGCACAGCGGGGAACTTGGACCTTTTCACCAAATCCCAGTGCCTGAATTCTTCAGGAGGTAACACGCAGATATCTAACAGGAAGTGCTTCTGATAGGCGGTGCAGTAAACATCTGGAATGCATCACAGCCAGGGAATAGCACAGACAGGATAGCACAGAGAGGATATAAGACCTTCAAGATGGCTCAAAAGACCTTGGGGTTGATGAACTATGCTGTTACTAAGGACTGTTTGGGGTACATTGATCATTGTTAGGGTAAAAAGCAGGTGATACAGTCCAGTCCTGTCCTCACACTTCACAATTTTTACTGGAGACAAGAATGGGCAGGATAAACTATGGGGCCCATAGGACCCTCCCATCGTCTGCTGTCTATCTGGCCGGAAAGCATGATGATGAACAAAGCAACCTTGCCTCTGTCAGGCACACCTATAATGGTTCCAAGAGCCACATTCCGACTGTTGTACTGCGGGTGGCAATGGAACGGTCTTCCGATTACCTAAAATGCCACAGATTCCCTTCTTCTCTAATACGCATCCGATTACCATAGAACTCTAAGATATCTTTTAAAACCTAGTCATATTAAAAGTTCCTTTTTCTCCATTAATCAGTCTGCCCCAAAGAAGCTTTTCCGTATTTCACAGGATCCTTAGAAGAGGCCAGCTAACTGTGATACCTAGCACCCTTATCTTTTCTCGATACACAGCGTCCTTCCTCCAGCAGAATCCTAAAATAGCAGCAGTCCGGATTAACATGGCTGTGAGGAGTAGGTGCTTAGCTGAATAACATCAGAATTAATGAGGGGCCGGACCCCAAACAGAGCCACCTGGTGGGCATGAACACCAGGCAGTTATGGGGCCGTTTCCTTCAACCAAGTGTCTGGTCCCTGGCTATCTCTGCTTCAGCCAGAACACATTCTGTCCCCCACCGAGGCTTTAAGGGCCAGCGCGCAGCACCCTCACCTTTCAGCAGGTCCGGGTGCACATAGCCCAACACGTCGGAGACCCCCAGCTCCTGGCGCGAACAGGTGCCTCCGTGGATGTGCAACCAGGCGGGCTCGGCGAGGGCAGTGCACAGCGCCGTGATAGACAGGGCGCCAGGCAGGGCCGAGGCCAGGCTACGCTCCGGCTGCTTGGGCAGAGCGCTGCCTCCCGGGCTCCTCCGCCGGCGCCCGCCGGGCAGCCCTGCGCCTCCGGGGGCGTACTTGCCCGGGGCCGCCCGCCGTCGCTCCGCAGTCGCTGCTGGTCGCCGCCGACCTCCGCGGGGCGCGCAGAGCCTGACAGTCCGGTGGAGGATAGCAACGCTCCGGGTTCGCTGCAGGTGAAGCCGGGACTGGGCTGTCAGGGTTGACACCAGAGGATAGGGGGGTGGGACCCGGGGCTGACGGAGACGGGGAGGGCTGCGGGAATTCGGGGGGCGGAGACAGGAGACTCCGGAATGGGACTGCGGGACGACAACCGAAGAGGGCCAGGGGCCAGATGGGGTCTGGGCAGACTCGAGTGGGGGGCGGAGGGATCGGGGATCGGCTACTGCTAGAGCAAAGACCCGGAGTCAGGGTCTCAGCCAGAGGATGCCGAGGGGCGGAGGACCGGGCTGGGCCGCGGGGATCGGGGACCCGTGATCTGGGACCGGCGGTTTGGGGTGCGACCTGTGCGCAGAAAAGACCCTCCCCACGCCGCCCACTGTTCCTCACCAGTCAGCAGGCCCCAGGGCTGGGATGGTGCTGCTCAGCCCAGTCACGGGCTTCTCGGCTGCCGGGGGCCGAGCGTTCCCAGGCCCCAATCCCGCAACGCCCGGACAGACCCGGGGCCGATGCACTTCCGGCTTCCTCCTCCTCTGCCTCCGCCTCCTCCGGCTCCCCGCCCCGTCCCCCGCGCGCGTCACAGCCTGGGCGCGCCGCCGGCTCTGCGCAGGGCCTCACGGGACTGGTAGTTCGAGGCGGTCCCGCGATGCTTTCCCTGCCGAGGTGAGGGGAGCGACTACAACTCCCAGAGGGTATGGCGGCCGCAGCAGTGGGCAGTTGAGTTTCCGGGGCGACCCAGGTCCTCCGGCGGAAGCGGGAGCCTCTGTCGGCCGCGGAAGCCTGGAGTGGGCGGTACGCAGACGCGCGCGGTGAGACCCGCTGTCTGCTCAGCGGACTCTGCCCGCCCCCACCTCCCCCTGCGTCGGGCCGACATGAAGGACTCGCTGGTGCTGCTGGGCCGTGTCCCGGCGCACCCGGACTCCCGCTGCTGGTTCCTGGCCTGGAACCCCGCGGGGACCCTGCTGGCCTCGTGCGGCGGCGACCGGAGAATCCGCATCTGGGGCACGGAGGGTAAGGCCCAGCCTGGTTGCGCGGCCCTCAGCGCTGAGGGCTCAGCCTGCGCGTAGTGCAGGCGCTCAGCCTGCAGGGGAGGCTGAACCTGTTCCTGGCGGAGGGAGAGTGGGATGTTAGCCACGCCGAGAAGGGCTTTACAGGCAAAGAAGTCTGCGACTGTTGGGAGGAAAAACGTCAGCAGACAAGCTGAAATGTCAAGGGAATTGTGTTAGCTGCAGAGGCAGGAAAATGGGAAAAGAGAGGTGTTAGGAAAGTGGCCTTCAGAGTAACTTGCGACTGGATGGTCACATTTTATCCCGAGGGCATTGGGGAACCAATAGCAATTTTAGATCAGATTTGTTTTAGAAAGATGCCTCCAGAGGTTGGGCGCGGTGGCTCACGCCTGTAATCCTAGCAGTTTGGGAAGCAGAGGCGGGTAGATCACCTGAGGTCAAGAGGTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAATTAGCTGGGCGTTGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCGAAGATTGCAGTGAGCCGAGATTGTGCCATTGCACCCCAGCCTGGGCATCAGAGCAAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTTCCAGACGAAGTAGATTCATTTGCATCTTTGTAAAAGCTGTGAAATACACTCCCTGAGCTTTCCCCCACTAGCTTGATTCCAGTGCTAGCCCCTGATATTGAATGGCTTCATGGTGCTGCACCCAGCTCCAGAGCCTGGCCTGCGCTCCGCCTTTAGGTGACAGCTGGATCTGCAAGTCTGTCCTTTCTGAAGGCCACCAGCGCACCGTGCGGAAGGTAGCCTGGTCCCCCTGCGGTAATTACCTGGCCTCTGCCAGCTTTGAT
Task1_train_3831
Given this variant in gene LOC129934333, TMEM127 (ATAC-STARR-seq lymphoblastoid silent region 11759| transmembrane protein 127) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Hereditary pheochromocytoma-paraganglioma
AGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGGCATCATTTTATATTGGCATCAACAGAGGTGGGGTAGTCCCAGCTCTGCCACCCTAAACTGGGTAGCCTTGGGGAGATCCTTCATTTTTCTGAGCCACAGCTAAGCACACCCCATGCAGTGCTAGATTTCGGAGATCTAGCTTTCTAGATCTGATGGGTCTAGTGGTGGGAAGGTGGTATGTGTGCTTCAAAGAAAGCAAGTACAGGGCAATGTGCTAAAAGAAAAACCACCAAGACTCACTCAAGCTTAATGCTCTTTGTGCCATTAGCAACATGACAGAGAAAAGGCTGCATATAAGGCCTCTGTCGTGTGCATAACTTTGGCTTTAATGAGCCAACCCAGCAAAGAGTACCATTAAGGTGAAATCTGGAAACAACCAGTTGTCCCCAACCTTCTACAAAATCACCCTACAGCTTCTAAAACTCAAGAGAGATGCAAAACAGTAAGAGAACACTCAGAGAAAGGCAACATTTGGCCACAAGGATGAGGCTTTTCAGCCTAGACCTGCAGAAGCAGAGTATGGTCCGATGCACAGCGGGGAACTTGGACCTTTTCACCAAATCCCAGTGCCTGAATTCTTCAGGAGGTAACACGCAGATATCTAACAGGAAGTGCTTCTGATAGGCGGTGCAGTAAACATCTGGAATGCATCACAGCCAGGGAATAGCACAGACAGGATAGCACAGAGAGGATATAAGACCTTCAAGATGGCTCAAAAGACCTTGGGGTTGATGAACTATGCTGTTACTAAGGACTGTTTGGGGTACATTGATCATTGTTAGGGTAAAAAGCAGGTGATACAGTCCAGTCCTGTCCTCACACTTCACAATTTTTACTGGAGACAAGAATGGGCAGGATAAACTATGGGGCCCATAGGACCCTCCCATCGTCTGCTGTCTATCTGGCCGGAAAGCATGATGATGAACAAAGCAACCTTGCCTCTGTCAGGCACACCTATAATGGTTCCAAGAGCCACATTCCGACTGTTGTACTGCGGGTGGCAATGGAACGGTCTTCCGATTACCTAAAATGCCACAGATTCCCTTCTTCTCTAATACGCATCCGATTACCATAGAACTCTAAGATATCTTTTAAAACCTAGTCATATTAAAAGTTCCTTTTTCTCCATTAATCAGTCTGCCCCAAAGAAGCTTTTCCGTATTTCACAGGATCCTTAGAAGAGGCCAGCTAACTGTGATACCTAGCACCCTTATCTTTTCTCGATACACAGCGTCCTTCCTCCAGCAGAATCCTAAAATAGCAGCAGTCCGGATTAACATGGCTGTGAGGAGTAGGTGCTTAGCTGAATAACATCAGAATTAATGAGGGGCCGGACCCCAAACAGAGCCACCTGGTGGGCATGAACACCAGGCAGTTATGGGGCCGTTTCCTTCAACCAAGTGTCTGGTCCCTGGCTATCTCTGCTTCAGCCAGAACACATTCTGTCCCCCACCGAGGCTTTAAGGGCCAGCGCGCAGCACCCTCACCTTTCAGCAGGTCCGGGTGCACATAGCCCAACACGTCGGAGACCCCCAGCTCCTGGCGCGAACAGGTGCCTCCGTGGATGTGCAACCAGGCGGGCTCGGCGAGGGCAGTGCACAGCGCCGTGATAGACAGGGCGCCAGGCAGGGCCGAGGCCAGGCTACGCTCCGGCTGCTTGGGCAGAGCGCTGCCTCCCGGGCTCCTCCGCCGGCGCCCGCCGGGCAGCCCTGCGCCTCCGGGGGCGTACATGCCCGGGGCCGCCCGCCGTCGCTCCGCAGTCGCTGCTGGTCGCCGCCGACCTCCGCGGGGCGCGCAGAGCCTGACAGTCCGGTGGAGGATAGCAACGCTCCGGGTTCGCTGCAGGTGAAGCCGGGACTGGGCTGTCAGGGTTGACACCAGAGGATAGGGGGGTGGGACCCGGGGCTGACGGAGACGGGGAGGGCTGCGGGAATTCGGGGGGCGGAGACAGGAGACTCCGGAATGGGACTGCGGGACGACAACCGAAGAGGGCCAGGGGCCAGATGGGGTCTGGGCAGACTCGAGTGGGGGGCGGAGGGATCGGGGATCGGCTACTGCTAGAGCAAAGACCCGGAGTCAGGGTCTCAGCCAGAGGATGCCGAGGGGCGGAGGACCGGGCTGGGCCGCGGGGATCGGGGACCCGTGATCTGGGACCGGCGGTTTGGGGTGCGACCTGTGCGCAGAAAAGACCCTCCCCACGCCGCCCACTGTTCCTCACCAGTCAGCAGGCCCCAGGGCTGGGATGGTGCTGCTCAGCCCAGTCACGGGCTTCTCGGCTGCCGGGGGCCGAGCGTTCCCAGGCCCCAATCCCGCAACGCCCGGACAGACCCGGGGCCGATGCACTTCCGGCTTCCTCCTCCTCTGCCTCCGCCTCCTCCGGCTCCCCGCCCCGTCCCCCGCGCGCGTCACAGCCTGGGCGCGCCGCCGGCTCTGCGCAGGGCCTCACGGGACTGGTAGTTCGAGGCGGTCCCGCGATGCTTTCCCTGCCGAGGTGAGGGGAGCGACTACAACTCCCAGAGGGTATGGCGGCCGCAGCAGTGGGCAGTTGAGTTTCCGGGGCGACCCAGGTCCTCCGGCGGAAGCGGGAGCCTCTGTCGGCCGCGGAAGCCTGGAGTGGGCGGTACGCAGACGCGCGCGGTGAGACCCGCTGTCTGCTCAGCGGACTCTGCCCGCCCCCACCTCCCCCTGCGTCGGGCCGACATGAAGGACTCGCTGGTGCTGCTGGGCCGTGTCCCGGCGCACCCGGACTCCCGCTGCTGGTTCCTGGCCTGGAACCCCGCGGGGACCCTGCTGGCCTCGTGCGGCGGCGACCGGAGAATCCGCATCTGGGGCACGGAGGGTAAGGCCCAGCCTGGTTGCGCGGCCCTCAGCGCTGAGGGCTCAGCCTGCGCGTAGTGCAGGCGCTCAGCCTGCAGGGGAGGCTGAACCTGTTCCTGGCGGAGGGAGAGTGGGATGTTAGCCACGCCGAGAAGGGCTTTACAGGCAAAGAAGTCTGCGACTGTTGGGAGGAAAAACGTCAGCAGACAAGCTGAAATGTCAAGGGAATTGTGTTAGCTGCAGAGGCAGGAAAATGGGAAAAGAGAGGTGTTAGGAAAGTGGCCTTCAGAGTAACTTGCGACTGGATGGTCACATTTTATCCCGAGGGCATTGGGGAACCAATAGCAATTTTAGATCAGATTTGTTTTAGAAAGATGCCTCCAGAGGTTGGGCGCGGTGGCTCACGCCTGTAATCCTAGCAGTTTGGGAAGCAGAGGCGGGTAGATCACCTGAGGTCAAGAGGTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAATTAGCTGGGCGTTGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCGAAGATTGCAGTGAGCCGAGATTGTGCCATTGCACCCCAGCCTGGGCATCAGAGCAAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTTCCAGACGAAGTAGATTCATTTGCATCTTTGTAAAAGCTGTGAAATACACTCCCTGAGCTTTCCCCCACTAGCTTGATTCCAGTGCTAGCCCCTGATATTGAATGGCTTCATGGTGCTGCACCCAGCTCCAGAGCCTGGCCTGCGCTCCGCCTTTAGGTGACAGCTGGATCTGCAAGTCTGTCCTTTCTGAAGGCCACCAGCGCACCGTGCGGAAGGTAGCCTGGTCCCCCTGCGGTAATTACCTGGCCTCTGCCAGCTTTGATG
AGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGGCATCATTTTATATTGGCATCAACAGAGGTGGGGTAGTCCCAGCTCTGCCACCCTAAACTGGGTAGCCTTGGGGAGATCCTTCATTTTTCTGAGCCACAGCTAAGCACACCCCATGCAGTGCTAGATTTCGGAGATCTAGCTTTCTAGATCTGATGGGTCTAGTGGTGGGAAGGTGGTATGTGTGCTTCAAAGAAAGCAAGTACAGGGCAATGTGCTAAAAGAAAAACCACCAAGACTCACTCAAGCTTAATGCTCTTTGTGCCATTAGCAACATGACAGAGAAAAGGCTGCATATAAGGCCTCTGTCGTGTGCATAACTTTGGCTTTAATGAGCCAACCCAGCAAAGAGTACCATTAAGGTGAAATCTGGAAACAACCAGTTGTCCCCAACCTTCTACAAAATCACCCTACAGCTTCTAAAACTCAAGAGAGATGCAAAACAGTAAGAGAACACTCAGAGAAAGGCAACATTTGGCCACAAGGATGAGGCTTTTCAGCCTAGACCTGCAGAAGCAGAGTATGGTCCGATGCACAGCGGGGAACTTGGACCTTTTCACCAAATCCCAGTGCCTGAATTCTTCAGGAGGTAACACGCAGATATCTAACAGGAAGTGCTTCTGATAGGCGGTGCAGTAAACATCTGGAATGCATCACAGCCAGGGAATAGCACAGACAGGATAGCACAGAGAGGATATAAGACCTTCAAGATGGCTCAAAAGACCTTGGGGTTGATGAACTATGCTGTTACTAAGGACTGTTTGGGGTACATTGATCATTGTTAGGGTAAAAAGCAGGTGATACAGTCCAGTCCTGTCCTCACACTTCACAATTTTTACTGGAGACAAGAATGGGCAGGATAAACTATGGGGCCCATAGGACCCTCCCATCGTCTGCTGTCTATCTGGCCGGAAAGCATGATGATGAACAAAGCAACCTTGCCTCTGTCAGGCACACCTATAATGGTTCCAAGAGCCACATTCCGACTGTTGTACTGCGGGTGGCAATGGAACGGTCTTCCGATTACCTAAAATGCCACAGATTCCCTTCTTCTCTAATACGCATCCGATTACCATAGAACTCTAAGATATCTTTTAAAACCTAGTCATATTAAAAGTTCCTTTTTCTCCATTAATCAGTCTGCCCCAAAGAAGCTTTTCCGTATTTCACAGGATCCTTAGAAGAGGCCAGCTAACTGTGATACCTAGCACCCTTATCTTTTCTCGATACACAGCGTCCTTCCTCCAGCAGAATCCTAAAATAGCAGCAGTCCGGATTAACATGGCTGTGAGGAGTAGGTGCTTAGCTGAATAACATCAGAATTAATGAGGGGCCGGACCCCAAACAGAGCCACCTGGTGGGCATGAACACCAGGCAGTTATGGGGCCGTTTCCTTCAACCAAGTGTCTGGTCCCTGGCTATCTCTGCTTCAGCCAGAACACATTCTGTCCCCCACCGAGGCTTTAAGGGCCAGCGCGCAGCACCCTCACCTTTCAGCAGGTCCGGGTGCACATAGCCCAACACGTCGGAGACCCCCAGCTCCTGGCGCGAACAGGTGCCTCCGTGGATGTGCAACCAGGCGGGCTCGGCGAGGGCAGTGCACAGCGCCGTGATAGACAGGGCGCCAGGCAGGGCCGAGGCCAGGCTACGCTCCGGCTGCTTGGGCAGAGCGCTGCCTCCCGGGCTCCTCCGCCGGCGCCCGCCGGGCAGCCCTGCGCCTCCGGGGGCGTACAAGCCCGGGGCCGCCCGCCGTCGCTCCGCAGTCGCTGCTGGTCGCCGCCGACCTCCGCGGGGCGCGCAGAGCCTGACAGTCCGGTGGAGGATAGCAACGCTCCGGGTTCGCTGCAGGTGAAGCCGGGACTGGGCTGTCAGGGTTGACACCAGAGGATAGGGGGGTGGGACCCGGGGCTGACGGAGACGGGGAGGGCTGCGGGAATTCGGGGGGCGGAGACAGGAGACTCCGGAATGGGACTGCGGGACGACAACCGAAGAGGGCCAGGGGCCAGATGGGGTCTGGGCAGACTCGAGTGGGGGGCGGAGGGATCGGGGATCGGCTACTGCTAGAGCAAAGACCCGGAGTCAGGGTCTCAGCCAGAGGATGCCGAGGGGCGGAGGACCGGGCTGGGCCGCGGGGATCGGGGACCCGTGATCTGGGACCGGCGGTTTGGGGTGCGACCTGTGCGCAGAAAAGACCCTCCCCACGCCGCCCACTGTTCCTCACCAGTCAGCAGGCCCCAGGGCTGGGATGGTGCTGCTCAGCCCAGTCACGGGCTTCTCGGCTGCCGGGGGCCGAGCGTTCCCAGGCCCCAATCCCGCAACGCCCGGACAGACCCGGGGCCGATGCACTTCCGGCTTCCTCCTCCTCTGCCTCCGCCTCCTCCGGCTCCCCGCCCCGTCCCCCGCGCGCGTCACAGCCTGGGCGCGCCGCCGGCTCTGCGCAGGGCCTCACGGGACTGGTAGTTCGAGGCGGTCCCGCGATGCTTTCCCTGCCGAGGTGAGGGGAGCGACTACAACTCCCAGAGGGTATGGCGGCCGCAGCAGTGGGCAGTTGAGTTTCCGGGGCGACCCAGGTCCTCCGGCGGAAGCGGGAGCCTCTGTCGGCCGCGGAAGCCTGGAGTGGGCGGTACGCAGACGCGCGCGGTGAGACCCGCTGTCTGCTCAGCGGACTCTGCCCGCCCCCACCTCCCCCTGCGTCGGGCCGACATGAAGGACTCGCTGGTGCTGCTGGGCCGTGTCCCGGCGCACCCGGACTCCCGCTGCTGGTTCCTGGCCTGGAACCCCGCGGGGACCCTGCTGGCCTCGTGCGGCGGCGACCGGAGAATCCGCATCTGGGGCACGGAGGGTAAGGCCCAGCCTGGTTGCGCGGCCCTCAGCGCTGAGGGCTCAGCCTGCGCGTAGTGCAGGCGCTCAGCCTGCAGGGGAGGCTGAACCTGTTCCTGGCGGAGGGAGAGTGGGATGTTAGCCACGCCGAGAAGGGCTTTACAGGCAAAGAAGTCTGCGACTGTTGGGAGGAAAAACGTCAGCAGACAAGCTGAAATGTCAAGGGAATTGTGTTAGCTGCAGAGGCAGGAAAATGGGAAAAGAGAGGTGTTAGGAAAGTGGCCTTCAGAGTAACTTGCGACTGGATGGTCACATTTTATCCCGAGGGCATTGGGGAACCAATAGCAATTTTAGATCAGATTTGTTTTAGAAAGATGCCTCCAGAGGTTGGGCGCGGTGGCTCACGCCTGTAATCCTAGCAGTTTGGGAAGCAGAGGCGGGTAGATCACCTGAGGTCAAGAGGTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAATTAGCTGGGCGTTGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCGAAGATTGCAGTGAGCCGAGATTGTGCCATTGCACCCCAGCCTGGGCATCAGAGCAAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTTCCAGACGAAGTAGATTCATTTGCATCTTTGTAAAAGCTGTGAAATACACTCCCTGAGCTTTCCCCCACTAGCTTGATTCCAGTGCTAGCCCCTGATATTGAATGGCTTCATGGTGCTGCACCCAGCTCCAGAGCCTGGCCTGCGCTCCGCCTTTAGGTGACAGCTGGATCTGCAAGTCTGTCCTTTCTGAAGGCCACCAGCGCACCGTGCGGAAGGTAGCCTGGTCCCCCTGCGGTAATTACCTGGCCTCTGCCAGCTTTGATG
Task1_train_3832
With a mutation on Chromosome 2 in gene SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Retinitis pigmentosa 33
AAACACCGGTGATGTACTCAGCCATGGACTGAGGAAACAGTGCCTGCTCTGTGAATGTCCCCGTTATTTATCATGATGTGGTGAGGAGGCTTCAGTGCCACCCCATGGTTCTGGTTCAATACTTGAGCGCCAGGGGCAGGCCTCTAAGCCTCCTGGGCCCGAGAAATGACCATGCCATGTAAGGCCTTGCTCTATTGCCCCTCCACAGTGACACATGCAGAGCAGCAAAGCAACCAAAGGCTTCTGACAAAGGAAAAAGTCCTGGTGGGTCCCAGCGGTCACACTGAGGAGCTCCCAGACCTCCCAAGTGCCTGAGCACCCCCACTCCCCTGCCTGCCACAGAGCACATCTGTCTCCCGGTGACTTCAAAAGCCTCCAGAGGAGGGATGGAAACACTTACCCTGGGTCTGGATGGGATTGAAGAAAGGAAATTTATCTTGGTAAAGACTCTCAAAGGCACTGTTTCTCAGAGCAGACACGGGCAAGGGCTGCAGGTCCAAAAGTTCGGTTGGAGGGGGGTACTTCTCCGGCAAGATCAGGTGCCGGAAGGAGACAGGCAGCTGGGTCTCACAAGCTGCCAGAAAAGAAACAGGAAGGATATAAGCACTGCTCTCTTTCCCTCACTGGCCTCTAGATCCCCTCCATGAACACTGGAAACCTAGGCAGCATATGTATCACTCTGTCCCCAGCAAGGGCAAGCCCGGGACAAAGTGCAAGACATTCTTCTACTGTCCTTGGAGGGACTGTTCCTGGGGACTCTGGAGAGGAGACACTCACAGAGCCAGCGGTCAGACACCACTCGGATGAAGTACTGAGGGGGCAGCGGTTCAAAGACAGGCACGAAGAATGTAATGAGGTGCTCGTCCTGGGCGTACTTGGCCTTGAGGAGAAAATACTCATGGTGCAGAATCACCTCGCTGTCCACATCCTCCACCAGAATCCAAAAAGCCTCGGATGAACCATGCACCTGCCAACAGGAGCAAGGGTAAAAGGAATGTGAGTCAACGTAGACTGAGTGCCTCCAATCCATCTCCTCGGCCCAGCAACGTAGACTGAGCACCTCCAATCCAGCACCTCTGCCCAGCAAAGCCTCACCTTTTCATCCCACTGGAAGTCTGGCGTGATGGTCAGCTCCACCTTCAGGGTGGAGCGTGTGATAGGCTGCAGGTGCACTGACAACTCCAACTTGGGAAACAGATGGACATATTTGTGGATGGTCTTCCCCATCTTTGGCATGCGGATAAGCTCCCCTACAAGGAAATGAGAGTACTGAGGCTGCAGCCCAGCCTGCCTACTATACTGCAAACTGGGCCTGAGGGCCACTGTGGGAAAGGGGTAGGGTCTTCCCTTTATGGTCAGTGGAGCCCAGGATTCCAAGTCCCCAGACCAAGGGCCAGCCTGTACTTCAGTGGGACTTGGGGAGTGAACACAGGATACTAATGCACAGGCCTAGGAACAGGAAGACTACATAGGCAAACTGGGAGAGACACCCAGGCAGTGAGGACAAGGGCGAGAGCATCCCACACACCAATCTCATTATGATTCAGGTCGTACAGACGCTCAAAGGGGAAATTCTTCTTCTCAATCTTCTTCACTACTTCCTCAGGGAGTTTCCGGAACTGGCGCAGAGGACACATGGACTGCCACCTATCCAGGAAGGAGGCAAAGCTGTTGGTCCCTTCTGCAGGGATGTGACAAACCACCCACTTCATGGCTTCCAATAGTTTAGCAGTGACTACACAAAACACAGTCATTAAAGGCAGACACTGACACTGTGCCAGCCCTGGCCTCCACCACAGAGGGCCTTCCCTCTTCTCAATGTGCACCAAGGTTCAGGTCATACTTCCGATGTCAGGTCTGGAGATCAGATGCACCCTGAGGCTTTCCCATCAGACCCTTGGGTTGGGGACCCCCACTCATGGTGACCAGCATCCAGCTCACTGGGTCCTTACATGCGTTTGTCGATCATCTTGCAGAGGTTCAGGGTCTTGTCTGTAAGCTGTGCCCAACCTCGGTTCAGGACAATTTCAAATATCGCTCGCATCAACCGGCCAGCCGACTAAGCAAAGAAGCAGCATTCCCACTGTTAAGTCTCGACTATCCCCAGGCCTCATGAGCCACTCTACACACGGTTTCATTACCTCCAGCTCTGACACAACCACCCACCCTAACTCAAAGGCAAAGTCCCCTCTGTCTTTACGCCTTTCTCCGTTCCATATAGTAGATGCTTGCCGGATGGGGAACAATTAGAAGAGTGCTGCGGCTCAAGGTCACTGCACAACATTTTAACCTAACATTCACTGCATGATTTTAAAGCTTTTGAGTCATTTAGCATTTAGAGTTCTAGGAAGAGTTGAGGGTACCAGTGACCTGTTCTTAGAGGTAAAGATGAAGAGCAGCTAATAAAACCCTGTGCCATTTTTGGATTTATTTATGAGCTGTGCAGCAACAGTGGGAAATCACTTTGCTGCTGGGAAGCAGACACTGCGTGCTGTGGCTCTTCCTGTCTCTCTGAGGGCCCGTGGAGCCTCGAAGCATTCCCTCTTAAGGTCTTACCTTTCCCACGTGCTCAAGATGTATACTACAGAGTGGCTGTACCACACATGCACCAACCAACTACCCGGCAAGAGCAGAACTAAGCACTCCTCCCATCTCACTAGGGTCGGGCCTCCTTTCCCCAGGATGCACACAGCACACAGGGATTGAACTGTTCAGGCCCCTTCTCACAGCTGCCATACAACTCCGCTCTCACCTGTGTGACATACACCATGTCAGCCATCAGTGCAAAGCCCTCCAATTTCAGCTGTGAGATGAAGGCTTGCAGAAGAACGTTGATCTGTAAAGAAGCAAAATCAGCCAGCAGGAGACCAATCACTGAACAGTCCAAGAAAGGGAATTACATTTCTGCTCTGAGCATCCAGGCCAGGTGAGATTTGCTACAGGTCTTGATTTACAAATACTAAATAATTGTTATTTCATATAAAAAGAACATGCGAGAAGGCTGCAAAAACTAGGAGAACTGAGCAGGAAACCACACATGAACCCAAATTCAAGGTTCATCTTTTAGAAGATTATGAAAACCACTTAATCCTCATCCTTATCAAAGCAAAGAGGAGAGGAGCTCACCTTAGCACTGGGTTCCTCAATGCTCTCCTTTACAGGGATAGGCACCCTCTCCAGCAACTTCTGCAGCTCCAGCTTCTCCTCCTGCCACAAGGAGGAAAAGGTCAAGGGAAAGCCTTGTGGCCGAGGAGGGACACCATTCAGTGACTTGGTGAGCACCAACTCCCCGCCCCATCATGCTGCATAGGCTCACCTCTCTCACTGTGATGTTCTTGAACTCAGAGGACAATGAGAAGACCCTGAAAAGCTCAATCTCACTCAGGGTGGGCTTCAGCAGCTGGTTGTAAGTCTGCACTGTATCATTGGTGATGTAGTAGTGGCTGGCTATACGGCCCAGTTCTGTCACCTGGAGAGAAGGTAGACTCAATCCAGTGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAGCAATCTGAAAAATTTTTTCCTGGGCCAACAACTTTTGCTGAGACCTTTGCCTCAAAACCCTCACCCCACGCACCTGGAAGTTGCCCGTCTTCTTGTCGTACTTGACCAGATTGTTCTTGTCCAGCATCAGGGCAGCTGTATGAACCAGATCTAGTCGGCGCTGGTCCAGCAGGGGATCTCCCTTGAGGTCATCATGAGAGATGCCATAGAGGGTTGGGGATCGCAGCATTCGGATATAGAGGTAGGCATAGCCCAGCCAGTTCACCGCATCCTACAAGACA
AAACACCGGTGATGTACTCAGCCATGGACTGAGGAAACAGTGCCTGCTCTGTGAATGTCCCCGTTATTTATCATGATGTGGTGAGGAGGCTTCAGTGCCACCCCATGGTTCTGGTTCAATACTTGAGCGCCAGGGGCAGGCCTCTAAGCCTCCTGGGCCCGAGAAATGACCATGCCATGTAAGGCCTTGCTCTATTGCCCCTCCACAGTGACACATGCAGAGCAGCAAAGCAACCAAAGGCTTCTGACAAAGGAAAAAGTCCTGGTGGGTCCCAGCGGTCACACTGAGGAGCTCCCAGACCTCCCAAGTGCCTGAGCACCCCCACTCCCCTGCCTGCCACAGAGCACATCTGTCTCCCGGTGACTTCAAAAGCCTCCAGAGGAGGGATGGAAACACTTACCCTGGGTCTGGATGGGATTGAAGAAAGGAAATTTATCTTGGTAAAGACTCTCAAAGGCACTGTTTCTCAGAGCAGACACGGGCAAGGGCTGCAGGTCCAAAAGTTCGGTTGGAGGGGGGTACTTCTCCGGCAAGATCAGGTGCCGGAAGGAGACAGGCAGCTGGGTCTCACAAGCTGCCAGAAAAGAAACAGGAAGGATATAAGCACTGCTCTCTTTCCCTCACTGGCCTCTAGATCCCCTCCATGAACACTGGAAACCTAGGCAGCATATGTATCACTCTGTCCCCAGCAAGGGCAAGCCCGGGACAAAGTGCAAGACATTCTTCTACTGTCCTTGGAGGGACTGTTCCTGGGGACTCTGGAGAGGAGACACTCACAGAGCCAGCGGTCAGACACCACTCGGATGAAGTACTGAGGGGGCAGCGGTTCAAAGACAGGCACGAAGAATGTAATGAGGTGCTCGTCCTGGGCGTACTTGGCCTTGAGGAGAAAATACTCATGGTGCAGAATCACCTCGCTGTCCACATCCTCCACCAGAATCCAAAAAGCCTCGGATGAACCATGCACCTGCCAACAGGAGCAAGGGTAAAAGGAATGTGAGTCAACGTAGACTGAGTGCCTCCAATCCATCTCCTCGGCCCAGCAACGTAGACTGAGCACCTCCAATCCAGCACCTCTGCCCAGCAAAGCCTCACCTTTTCATCCCACTGGAAGTCTGGCGTGATGGTCAGCTCCACCTTCAGGGTGGAGCGTGTGATAGGCTGCAGGTGCACTGACAACTCCAACTTGGGAAACAGATGGACATATTTGTGGATGGTCTTCCCCATCTTTGGCATGCGGATAAGCTCCCCTACAAGGAAATGAGAGTACTGAGGCTGCAGCCCAGCCTGCCTACTATACTGCAAACTGGGCCTGAGGGCCACTGTGGGAAAGGGGTAGGGTCTTCCCTTTATGGTCAGTGGAGCCCAGGATTCCAAGTCCCCAGACCAAGGGCCAGCCTGTACTTCAGTGGGACTTGGGGAGTGAACACAGGATACTAATGCACAGGCCTAGGAACAGGAAGACTACATAGGCAAACTGGGAGAGACACCCAGGCAGTGAGGACAAGGGCGAGAGCATCCCACACACCAATCTCATTATGATTCAGGTCGTACAGACGCTCAAAGGGGAAATTCTTCTTCTCAATCTTCTTCACTACTTCCTCAGGGAGTTTCCGGAACTGGCGCAGAGGACACATGGACTGCCACCTATCCAGGAAGGAGGCAAAGCTGTTGGTCCCTTCTGCAGGGATGTGACAAACCACCCACTTCATGGCTTCCAATAGTTTAGCAGTGACTACACAAAACACAGTCATTAAAGGCAGACACTGACACTGTGCCAGCCCTGGCCTCCACCACAGAGGGCCTTCCCTCTTCTCAATGTGCACCAAGGTTCAGGTCATACTTCCGATGTCAGGTCTGGAGATCAGATGCACCCTGAGGCTTTCCCATCAGACCCTTGGGTTGGGGACCCCCACTCATGGTGACCAGCATCCAGCTCACTGGGTCCTTACATGCGTTTGTCGATCATCTTGCAGAGGTTCAGGGTCTTGTCTGTAAGCTGTGCCCAACCTCGGTTCAGGACAATTTCAAATATCGCTCGCATCAACAGGCCAGCCGACTAAGCAAAGAAGCAGCATTCCCACTGTTAAGTCTCGACTATCCCCAGGCCTCATGAGCCACTCTACACACGGTTTCATTACCTCCAGCTCTGACACAACCACCCACCCTAACTCAAAGGCAAAGTCCCCTCTGTCTTTACGCCTTTCTCCGTTCCATATAGTAGATGCTTGCCGGATGGGGAACAATTAGAAGAGTGCTGCGGCTCAAGGTCACTGCACAACATTTTAACCTAACATTCACTGCATGATTTTAAAGCTTTTGAGTCATTTAGCATTTAGAGTTCTAGGAAGAGTTGAGGGTACCAGTGACCTGTTCTTAGAGGTAAAGATGAAGAGCAGCTAATAAAACCCTGTGCCATTTTTGGATTTATTTATGAGCTGTGCAGCAACAGTGGGAAATCACTTTGCTGCTGGGAAGCAGACACTGCGTGCTGTGGCTCTTCCTGTCTCTCTGAGGGCCCGTGGAGCCTCGAAGCATTCCCTCTTAAGGTCTTACCTTTCCCACGTGCTCAAGATGTATACTACAGAGTGGCTGTACCACACATGCACCAACCAACTACCCGGCAAGAGCAGAACTAAGCACTCCTCCCATCTCACTAGGGTCGGGCCTCCTTTCCCCAGGATGCACACAGCACACAGGGATTGAACTGTTCAGGCCCCTTCTCACAGCTGCCATACAACTCCGCTCTCACCTGTGTGACATACACCATGTCAGCCATCAGTGCAAAGCCCTCCAATTTCAGCTGTGAGATGAAGGCTTGCAGAAGAACGTTGATCTGTAAAGAAGCAAAATCAGCCAGCAGGAGACCAATCACTGAACAGTCCAAGAAAGGGAATTACATTTCTGCTCTGAGCATCCAGGCCAGGTGAGATTTGCTACAGGTCTTGATTTACAAATACTAAATAATTGTTATTTCATATAAAAAGAACATGCGAGAAGGCTGCAAAAACTAGGAGAACTGAGCAGGAAACCACACATGAACCCAAATTCAAGGTTCATCTTTTAGAAGATTATGAAAACCACTTAATCCTCATCCTTATCAAAGCAAAGAGGAGAGGAGCTCACCTTAGCACTGGGTTCCTCAATGCTCTCCTTTACAGGGATAGGCACCCTCTCCAGCAACTTCTGCAGCTCCAGCTTCTCCTCCTGCCACAAGGAGGAAAAGGTCAAGGGAAAGCCTTGTGGCCGAGGAGGGACACCATTCAGTGACTTGGTGAGCACCAACTCCCCGCCCCATCATGCTGCATAGGCTCACCTCTCTCACTGTGATGTTCTTGAACTCAGAGGACAATGAGAAGACCCTGAAAAGCTCAATCTCACTCAGGGTGGGCTTCAGCAGCTGGTTGTAAGTCTGCACTGTATCATTGGTGATGTAGTAGTGGCTGGCTATACGGCCCAGTTCTGTCACCTGGAGAGAAGGTAGACTCAATCCAGTGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAGCAATCTGAAAAATTTTTTCCTGGGCCAACAACTTTTGCTGAGACCTTTGCCTCAAAACCCTCACCCCACGCACCTGGAAGTTGCCCGTCTTCTTGTCGTACTTGACCAGATTGTTCTTGTCCAGCATCAGGGCAGCTGTATGAACCAGATCTAGTCGGCGCTGGTCCAGCAGGGGATCTCCCTTGAGGTCATCATGAGAGATGCCATAGAGGGTTGGGGATCGCAGCATTCGGATATAGAGGTAGGCATAGCCCAGCCAGTTCACCGCATCCTACAAGACA
Task1_train_3833
Here’s a variant in SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Retinitis pigmentosa 33
TGATGTACTCAGCCATGGACTGAGGAAACAGTGCCTGCTCTGTGAATGTCCCCGTTATTTATCATGATGTGGTGAGGAGGCTTCAGTGCCACCCCATGGTTCTGGTTCAATACTTGAGCGCCAGGGGCAGGCCTCTAAGCCTCCTGGGCCCGAGAAATGACCATGCCATGTAAGGCCTTGCTCTATTGCCCCTCCACAGTGACACATGCAGAGCAGCAAAGCAACCAAAGGCTTCTGACAAAGGAAAAAGTCCTGGTGGGTCCCAGCGGTCACACTGAGGAGCTCCCAGACCTCCCAAGTGCCTGAGCACCCCCACTCCCCTGCCTGCCACAGAGCACATCTGTCTCCCGGTGACTTCAAAAGCCTCCAGAGGAGGGATGGAAACACTTACCCTGGGTCTGGATGGGATTGAAGAAAGGAAATTTATCTTGGTAAAGACTCTCAAAGGCACTGTTTCTCAGAGCAGACACGGGCAAGGGCTGCAGGTCCAAAAGTTCGGTTGGAGGGGGGTACTTCTCCGGCAAGATCAGGTGCCGGAAGGAGACAGGCAGCTGGGTCTCACAAGCTGCCAGAAAAGAAACAGGAAGGATATAAGCACTGCTCTCTTTCCCTCACTGGCCTCTAGATCCCCTCCATGAACACTGGAAACCTAGGCAGCATATGTATCACTCTGTCCCCAGCAAGGGCAAGCCCGGGACAAAGTGCAAGACATTCTTCTACTGTCCTTGGAGGGACTGTTCCTGGGGACTCTGGAGAGGAGACACTCACAGAGCCAGCGGTCAGACACCACTCGGATGAAGTACTGAGGGGGCAGCGGTTCAAAGACAGGCACGAAGAATGTAATGAGGTGCTCGTCCTGGGCGTACTTGGCCTTGAGGAGAAAATACTCATGGTGCAGAATCACCTCGCTGTCCACATCCTCCACCAGAATCCAAAAAGCCTCGGATGAACCATGCACCTGCCAACAGGAGCAAGGGTAAAAGGAATGTGAGTCAACGTAGACTGAGTGCCTCCAATCCATCTCCTCGGCCCAGCAACGTAGACTGAGCACCTCCAATCCAGCACCTCTGCCCAGCAAAGCCTCACCTTTTCATCCCACTGGAAGTCTGGCGTGATGGTCAGCTCCACCTTCAGGGTGGAGCGTGTGATAGGCTGCAGGTGCACTGACAACTCCAACTTGGGAAACAGATGGACATATTTGTGGATGGTCTTCCCCATCTTTGGCATGCGGATAAGCTCCCCTACAAGGAAATGAGAGTACTGAGGCTGCAGCCCAGCCTGCCTACTATACTGCAAACTGGGCCTGAGGGCCACTGTGGGAAAGGGGTAGGGTCTTCCCTTTATGGTCAGTGGAGCCCAGGATTCCAAGTCCCCAGACCAAGGGCCAGCCTGTACTTCAGTGGGACTTGGGGAGTGAACACAGGATACTAATGCACAGGCCTAGGAACAGGAAGACTACATAGGCAAACTGGGAGAGACACCCAGGCAGTGAGGACAAGGGCGAGAGCATCCCACACACCAATCTCATTATGATTCAGGTCGTACAGACGCTCAAAGGGGAAATTCTTCTTCTCAATCTTCTTCACTACTTCCTCAGGGAGTTTCCGGAACTGGCGCAGAGGACACATGGACTGCCACCTATCCAGGAAGGAGGCAAAGCTGTTGGTCCCTTCTGCAGGGATGTGACAAACCACCCACTTCATGGCTTCCAATAGTTTAGCAGTGACTACACAAAACACAGTCATTAAAGGCAGACACTGACACTGTGCCAGCCCTGGCCTCCACCACAGAGGGCCTTCCCTCTTCTCAATGTGCACCAAGGTTCAGGTCATACTTCCGATGTCAGGTCTGGAGATCAGATGCACCCTGAGGCTTTCCCATCAGACCCTTGGGTTGGGGACCCCCACTCATGGTGACCAGCATCCAGCTCACTGGGTCCTTACATGCGTTTGTCGATCATCTTGCAGAGGTTCAGGGTCTTGTCTGTAAGCTGTGCCCAACCTCGGTTCAGGACAATTTCAAATATCGCTCGCATCAACCGGCCAGCCGACTAAGCAAAGAAGCAGCATTCCCACTGTTAAGTCTCGACTATCCCCAGGCCTCATGAGCCACTCTACACACGGTTTCATTACCTCCAGCTCTGACACAACCACCCACCCTAACTCAAAGGCAAAGTCCCCTCTGTCTTTACGCCTTTCTCCGTTCCATATAGTAGATGCTTGCCGGATGGGGAACAATTAGAAGAGTGCTGCGGCTCAAGGTCACTGCACAACATTTTAACCTAACATTCACTGCATGATTTTAAAGCTTTTGAGTCATTTAGCATTTAGAGTTCTAGGAAGAGTTGAGGGTACCAGTGACCTGTTCTTAGAGGTAAAGATGAAGAGCAGCTAATAAAACCCTGTGCCATTTTTGGATTTATTTATGAGCTGTGCAGCAACAGTGGGAAATCACTTTGCTGCTGGGAAGCAGACACTGCGTGCTGTGGCTCTTCCTGTCTCTCTGAGGGCCCGTGGAGCCTCGAAGCATTCCCTCTTAAGGTCTTACCTTTCCCACGTGCTCAAGATGTATACTACAGAGTGGCTGTACCACACATGCACCAACCAACTACCCGGCAAGAGCAGAACTAAGCACTCCTCCCATCTCACTAGGGTCGGGCCTCCTTTCCCCAGGATGCACACAGCACACAGGGATTGAACTGTTCAGGCCCCTTCTCACAGCTGCCATACAACTCCGCTCTCACCTGTGTGACATACACCATGTCAGCCATCAGTGCAAAGCCCTCCAATTTCAGCTGTGAGATGAAGGCTTGCAGAAGAACGTTGATCTGTAAAGAAGCAAAATCAGCCAGCAGGAGACCAATCACTGAACAGTCCAAGAAAGGGAATTACATTTCTGCTCTGAGCATCCAGGCCAGGTGAGATTTGCTACAGGTCTTGATTTACAAATACTAAATAATTGTTATTTCATATAAAAAGAACATGCGAGAAGGCTGCAAAAACTAGGAGAACTGAGCAGGAAACCACACATGAACCCAAATTCAAGGTTCATCTTTTAGAAGATTATGAAAACCACTTAATCCTCATCCTTATCAAAGCAAAGAGGAGAGGAGCTCACCTTAGCACTGGGTTCCTCAATGCTCTCCTTTACAGGGATAGGCACCCTCTCCAGCAACTTCTGCAGCTCCAGCTTCTCCTCCTGCCACAAGGAGGAAAAGGTCAAGGGAAAGCCTTGTGGCCGAGGAGGGACACCATTCAGTGACTTGGTGAGCACCAACTCCCCGCCCCATCATGCTGCATAGGCTCACCTCTCTCACTGTGATGTTCTTGAACTCAGAGGACAATGAGAAGACCCTGAAAAGCTCAATCTCACTCAGGGTGGGCTTCAGCAGCTGGTTGTAAGTCTGCACTGTATCATTGGTGATGTAGTAGTGGCTGGCTATACGGCCCAGTTCTGTCACCTGGAGAGAAGGTAGACTCAATCCAGTGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAGCAATCTGAAAAATTTTTTCCTGGGCCAACAACTTTTGCTGAGACCTTTGCCTCAAAACCCTCACCCCACGCACCTGGAAGTTGCCCGTCTTCTTGTCGTACTTGACCAGATTGTTCTTGTCCAGCATCAGGGCAGCTGTATGAACCAGATCTAGTCGGCGCTGGTCCAGCAGGGGATCTCCCTTGAGGTCATCATGAGAGATGCCATAGAGGGTTGGGGATCGCAGCATTCGGATATAGAGGTAGGCATAGCCCAGCCAGTTCACCGCATCCTACAAGACACAGCTCATG
TGATGTACTCAGCCATGGACTGAGGAAACAGTGCCTGCTCTGTGAATGTCCCCGTTATTTATCATGATGTGGTGAGGAGGCTTCAGTGCCACCCCATGGTTCTGGTTCAATACTTGAGCGCCAGGGGCAGGCCTCTAAGCCTCCTGGGCCCGAGAAATGACCATGCCATGTAAGGCCTTGCTCTATTGCCCCTCCACAGTGACACATGCAGAGCAGCAAAGCAACCAAAGGCTTCTGACAAAGGAAAAAGTCCTGGTGGGTCCCAGCGGTCACACTGAGGAGCTCCCAGACCTCCCAAGTGCCTGAGCACCCCCACTCCCCTGCCTGCCACAGAGCACATCTGTCTCCCGGTGACTTCAAAAGCCTCCAGAGGAGGGATGGAAACACTTACCCTGGGTCTGGATGGGATTGAAGAAAGGAAATTTATCTTGGTAAAGACTCTCAAAGGCACTGTTTCTCAGAGCAGACACGGGCAAGGGCTGCAGGTCCAAAAGTTCGGTTGGAGGGGGGTACTTCTCCGGCAAGATCAGGTGCCGGAAGGAGACAGGCAGCTGGGTCTCACAAGCTGCCAGAAAAGAAACAGGAAGGATATAAGCACTGCTCTCTTTCCCTCACTGGCCTCTAGATCCCCTCCATGAACACTGGAAACCTAGGCAGCATATGTATCACTCTGTCCCCAGCAAGGGCAAGCCCGGGACAAAGTGCAAGACATTCTTCTACTGTCCTTGGAGGGACTGTTCCTGGGGACTCTGGAGAGGAGACACTCACAGAGCCAGCGGTCAGACACCACTCGGATGAAGTACTGAGGGGGCAGCGGTTCAAAGACAGGCACGAAGAATGTAATGAGGTGCTCGTCCTGGGCGTACTTGGCCTTGAGGAGAAAATACTCATGGTGCAGAATCACCTCGCTGTCCACATCCTCCACCAGAATCCAAAAAGCCTCGGATGAACCATGCACCTGCCAACAGGAGCAAGGGTAAAAGGAATGTGAGTCAACGTAGACTGAGTGCCTCCAATCCATCTCCTCGGCCCAGCAACGTAGACTGAGCACCTCCAATCCAGCACCTCTGCCCAGCAAAGCCTCACCTTTTCATCCCACTGGAAGTCTGGCGTGATGGTCAGCTCCACCTTCAGGGTGGAGCGTGTGATAGGCTGCAGGTGCACTGACAACTCCAACTTGGGAAACAGATGGACATATTTGTGGATGGTCTTCCCCATCTTTGGCATGCGGATAAGCTCCCCTACAAGGAAATGAGAGTACTGAGGCTGCAGCCCAGCCTGCCTACTATACTGCAAACTGGGCCTGAGGGCCACTGTGGGAAAGGGGTAGGGTCTTCCCTTTATGGTCAGTGGAGCCCAGGATTCCAAGTCCCCAGACCAAGGGCCAGCCTGTACTTCAGTGGGACTTGGGGAGTGAACACAGGATACTAATGCACAGGCCTAGGAACAGGAAGACTACATAGGCAAACTGGGAGAGACACCCAGGCAGTGAGGACAAGGGCGAGAGCATCCCACACACCAATCTCATTATGATTCAGGTCGTACAGACGCTCAAAGGGGAAATTCTTCTTCTCAATCTTCTTCACTACTTCCTCAGGGAGTTTCCGGAACTGGCGCAGAGGACACATGGACTGCCACCTATCCAGGAAGGAGGCAAAGCTGTTGGTCCCTTCTGCAGGGATGTGACAAACCACCCACTTCATGGCTTCCAATAGTTTAGCAGTGACTACACAAAACACAGTCATTAAAGGCAGACACTGACACTGTGCCAGCCCTGGCCTCCACCACAGAGGGCCTTCCCTCTTCTCAATGTGCACCAAGGTTCAGGTCATACTTCCGATGTCAGGTCTGGAGATCAGATGCACCCTGAGGCTTTCCCATCAGACCCTTGGGTTGGGGACCCCCACTCATGGTGACCAGCATCCAGCTCACTGGGTCCTTACATGCGTTTGTCGATCATCTTGCAGAGGTTCAGGGTCTTGTCTGTAAGCTGTGCCCAACCTCGGTTCAGGACAATTTCAAATATCGCTCGCATCAACCGGCCAGCCAACTAAGCAAAGAAGCAGCATTCCCACTGTTAAGTCTCGACTATCCCCAGGCCTCATGAGCCACTCTACACACGGTTTCATTACCTCCAGCTCTGACACAACCACCCACCCTAACTCAAAGGCAAAGTCCCCTCTGTCTTTACGCCTTTCTCCGTTCCATATAGTAGATGCTTGCCGGATGGGGAACAATTAGAAGAGTGCTGCGGCTCAAGGTCACTGCACAACATTTTAACCTAACATTCACTGCATGATTTTAAAGCTTTTGAGTCATTTAGCATTTAGAGTTCTAGGAAGAGTTGAGGGTACCAGTGACCTGTTCTTAGAGGTAAAGATGAAGAGCAGCTAATAAAACCCTGTGCCATTTTTGGATTTATTTATGAGCTGTGCAGCAACAGTGGGAAATCACTTTGCTGCTGGGAAGCAGACACTGCGTGCTGTGGCTCTTCCTGTCTCTCTGAGGGCCCGTGGAGCCTCGAAGCATTCCCTCTTAAGGTCTTACCTTTCCCACGTGCTCAAGATGTATACTACAGAGTGGCTGTACCACACATGCACCAACCAACTACCCGGCAAGAGCAGAACTAAGCACTCCTCCCATCTCACTAGGGTCGGGCCTCCTTTCCCCAGGATGCACACAGCACACAGGGATTGAACTGTTCAGGCCCCTTCTCACAGCTGCCATACAACTCCGCTCTCACCTGTGTGACATACACCATGTCAGCCATCAGTGCAAAGCCCTCCAATTTCAGCTGTGAGATGAAGGCTTGCAGAAGAACGTTGATCTGTAAAGAAGCAAAATCAGCCAGCAGGAGACCAATCACTGAACAGTCCAAGAAAGGGAATTACATTTCTGCTCTGAGCATCCAGGCCAGGTGAGATTTGCTACAGGTCTTGATTTACAAATACTAAATAATTGTTATTTCATATAAAAAGAACATGCGAGAAGGCTGCAAAAACTAGGAGAACTGAGCAGGAAACCACACATGAACCCAAATTCAAGGTTCATCTTTTAGAAGATTATGAAAACCACTTAATCCTCATCCTTATCAAAGCAAAGAGGAGAGGAGCTCACCTTAGCACTGGGTTCCTCAATGCTCTCCTTTACAGGGATAGGCACCCTCTCCAGCAACTTCTGCAGCTCCAGCTTCTCCTCCTGCCACAAGGAGGAAAAGGTCAAGGGAAAGCCTTGTGGCCGAGGAGGGACACCATTCAGTGACTTGGTGAGCACCAACTCCCCGCCCCATCATGCTGCATAGGCTCACCTCTCTCACTGTGATGTTCTTGAACTCAGAGGACAATGAGAAGACCCTGAAAAGCTCAATCTCACTCAGGGTGGGCTTCAGCAGCTGGTTGTAAGTCTGCACTGTATCATTGGTGATGTAGTAGTGGCTGGCTATACGGCCCAGTTCTGTCACCTGGAGAGAAGGTAGACTCAATCCAGTGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAGCAATCTGAAAAATTTTTTCCTGGGCCAACAACTTTTGCTGAGACCTTTGCCTCAAAACCCTCACCCCACGCACCTGGAAGTTGCCCGTCTTCTTGTCGTACTTGACCAGATTGTTCTTGTCCAGCATCAGGGCAGCTGTATGAACCAGATCTAGTCGGCGCTGGTCCAGCAGGGGATCTCCCTTGAGGTCATCATGAGAGATGCCATAGAGGGTTGGGGATCGCAGCATTCGGATATAGAGGTAGGCATAGCCCAGCCAGTTCACCGCATCCTACAAGACACAGCTCATG
Task1_train_3834
Here is a genetic alteration in SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Retinal dystrophy
TGATGTACTCAGCCATGGACTGAGGAAACAGTGCCTGCTCTGTGAATGTCCCCGTTATTTATCATGATGTGGTGAGGAGGCTTCAGTGCCACCCCATGGTTCTGGTTCAATACTTGAGCGCCAGGGGCAGGCCTCTAAGCCTCCTGGGCCCGAGAAATGACCATGCCATGTAAGGCCTTGCTCTATTGCCCCTCCACAGTGACACATGCAGAGCAGCAAAGCAACCAAAGGCTTCTGACAAAGGAAAAAGTCCTGGTGGGTCCCAGCGGTCACACTGAGGAGCTCCCAGACCTCCCAAGTGCCTGAGCACCCCCACTCCCCTGCCTGCCACAGAGCACATCTGTCTCCCGGTGACTTCAAAAGCCTCCAGAGGAGGGATGGAAACACTTACCCTGGGTCTGGATGGGATTGAAGAAAGGAAATTTATCTTGGTAAAGACTCTCAAAGGCACTGTTTCTCAGAGCAGACACGGGCAAGGGCTGCAGGTCCAAAAGTTCGGTTGGAGGGGGGTACTTCTCCGGCAAGATCAGGTGCCGGAAGGAGACAGGCAGCTGGGTCTCACAAGCTGCCAGAAAAGAAACAGGAAGGATATAAGCACTGCTCTCTTTCCCTCACTGGCCTCTAGATCCCCTCCATGAACACTGGAAACCTAGGCAGCATATGTATCACTCTGTCCCCAGCAAGGGCAAGCCCGGGACAAAGTGCAAGACATTCTTCTACTGTCCTTGGAGGGACTGTTCCTGGGGACTCTGGAGAGGAGACACTCACAGAGCCAGCGGTCAGACACCACTCGGATGAAGTACTGAGGGGGCAGCGGTTCAAAGACAGGCACGAAGAATGTAATGAGGTGCTCGTCCTGGGCGTACTTGGCCTTGAGGAGAAAATACTCATGGTGCAGAATCACCTCGCTGTCCACATCCTCCACCAGAATCCAAAAAGCCTCGGATGAACCATGCACCTGCCAACAGGAGCAAGGGTAAAAGGAATGTGAGTCAACGTAGACTGAGTGCCTCCAATCCATCTCCTCGGCCCAGCAACGTAGACTGAGCACCTCCAATCCAGCACCTCTGCCCAGCAAAGCCTCACCTTTTCATCCCACTGGAAGTCTGGCGTGATGGTCAGCTCCACCTTCAGGGTGGAGCGTGTGATAGGCTGCAGGTGCACTGACAACTCCAACTTGGGAAACAGATGGACATATTTGTGGATGGTCTTCCCCATCTTTGGCATGCGGATAAGCTCCCCTACAAGGAAATGAGAGTACTGAGGCTGCAGCCCAGCCTGCCTACTATACTGCAAACTGGGCCTGAGGGCCACTGTGGGAAAGGGGTAGGGTCTTCCCTTTATGGTCAGTGGAGCCCAGGATTCCAAGTCCCCAGACCAAGGGCCAGCCTGTACTTCAGTGGGACTTGGGGAGTGAACACAGGATACTAATGCACAGGCCTAGGAACAGGAAGACTACATAGGCAAACTGGGAGAGACACCCAGGCAGTGAGGACAAGGGCGAGAGCATCCCACACACCAATCTCATTATGATTCAGGTCGTACAGACGCTCAAAGGGGAAATTCTTCTTCTCAATCTTCTTCACTACTTCCTCAGGGAGTTTCCGGAACTGGCGCAGAGGACACATGGACTGCCACCTATCCAGGAAGGAGGCAAAGCTGTTGGTCCCTTCTGCAGGGATGTGACAAACCACCCACTTCATGGCTTCCAATAGTTTAGCAGTGACTACACAAAACACAGTCATTAAAGGCAGACACTGACACTGTGCCAGCCCTGGCCTCCACCACAGAGGGCCTTCCCTCTTCTCAATGTGCACCAAGGTTCAGGTCATACTTCCGATGTCAGGTCTGGAGATCAGATGCACCCTGAGGCTTTCCCATCAGACCCTTGGGTTGGGGACCCCCACTCATGGTGACCAGCATCCAGCTCACTGGGTCCTTACATGCGTTTGTCGATCATCTTGCAGAGGTTCAGGGTCTTGTCTGTAAGCTGTGCCCAACCTCGGTTCAGGACAATTTCAAATATCGCTCGCATCAACCGGCCAGCCGACTAAGCAAAGAAGCAGCATTCCCACTGTTAAGTCTCGACTATCCCCAGGCCTCATGAGCCACTCTACACACGGTTTCATTACCTCCAGCTCTGACACAACCACCCACCCTAACTCAAAGGCAAAGTCCCCTCTGTCTTTACGCCTTTCTCCGTTCCATATAGTAGATGCTTGCCGGATGGGGAACAATTAGAAGAGTGCTGCGGCTCAAGGTCACTGCACAACATTTTAACCTAACATTCACTGCATGATTTTAAAGCTTTTGAGTCATTTAGCATTTAGAGTTCTAGGAAGAGTTGAGGGTACCAGTGACCTGTTCTTAGAGGTAAAGATGAAGAGCAGCTAATAAAACCCTGTGCCATTTTTGGATTTATTTATGAGCTGTGCAGCAACAGTGGGAAATCACTTTGCTGCTGGGAAGCAGACACTGCGTGCTGTGGCTCTTCCTGTCTCTCTGAGGGCCCGTGGAGCCTCGAAGCATTCCCTCTTAAGGTCTTACCTTTCCCACGTGCTCAAGATGTATACTACAGAGTGGCTGTACCACACATGCACCAACCAACTACCCGGCAAGAGCAGAACTAAGCACTCCTCCCATCTCACTAGGGTCGGGCCTCCTTTCCCCAGGATGCACACAGCACACAGGGATTGAACTGTTCAGGCCCCTTCTCACAGCTGCCATACAACTCCGCTCTCACCTGTGTGACATACACCATGTCAGCCATCAGTGCAAAGCCCTCCAATTTCAGCTGTGAGATGAAGGCTTGCAGAAGAACGTTGATCTGTAAAGAAGCAAAATCAGCCAGCAGGAGACCAATCACTGAACAGTCCAAGAAAGGGAATTACATTTCTGCTCTGAGCATCCAGGCCAGGTGAGATTTGCTACAGGTCTTGATTTACAAATACTAAATAATTGTTATTTCATATAAAAAGAACATGCGAGAAGGCTGCAAAAACTAGGAGAACTGAGCAGGAAACCACACATGAACCCAAATTCAAGGTTCATCTTTTAGAAGATTATGAAAACCACTTAATCCTCATCCTTATCAAAGCAAAGAGGAGAGGAGCTCACCTTAGCACTGGGTTCCTCAATGCTCTCCTTTACAGGGATAGGCACCCTCTCCAGCAACTTCTGCAGCTCCAGCTTCTCCTCCTGCCACAAGGAGGAAAAGGTCAAGGGAAAGCCTTGTGGCCGAGGAGGGACACCATTCAGTGACTTGGTGAGCACCAACTCCCCGCCCCATCATGCTGCATAGGCTCACCTCTCTCACTGTGATGTTCTTGAACTCAGAGGACAATGAGAAGACCCTGAAAAGCTCAATCTCACTCAGGGTGGGCTTCAGCAGCTGGTTGTAAGTCTGCACTGTATCATTGGTGATGTAGTAGTGGCTGGCTATACGGCCCAGTTCTGTCACCTGGAGAGAAGGTAGACTCAATCCAGTGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAGCAATCTGAAAAATTTTTTCCTGGGCCAACAACTTTTGCTGAGACCTTTGCCTCAAAACCCTCACCCCACGCACCTGGAAGTTGCCCGTCTTCTTGTCGTACTTGACCAGATTGTTCTTGTCCAGCATCAGGGCAGCTGTATGAACCAGATCTAGTCGGCGCTGGTCCAGCAGGGGATCTCCCTTGAGGTCATCATGAGAGATGCCATAGAGGGTTGGGGATCGCAGCATTCGGATATAGAGGTAGGCATAGCCCAGCCAGTTCACCGCATCCTACAAGACACAGCTCATG
TGATGTACTCAGCCATGGACTGAGGAAACAGTGCCTGCTCTGTGAATGTCCCCGTTATTTATCATGATGTGGTGAGGAGGCTTCAGTGCCACCCCATGGTTCTGGTTCAATACTTGAGCGCCAGGGGCAGGCCTCTAAGCCTCCTGGGCCCGAGAAATGACCATGCCATGTAAGGCCTTGCTCTATTGCCCCTCCACAGTGACACATGCAGAGCAGCAAAGCAACCAAAGGCTTCTGACAAAGGAAAAAGTCCTGGTGGGTCCCAGCGGTCACACTGAGGAGCTCCCAGACCTCCCAAGTGCCTGAGCACCCCCACTCCCCTGCCTGCCACAGAGCACATCTGTCTCCCGGTGACTTCAAAAGCCTCCAGAGGAGGGATGGAAACACTTACCCTGGGTCTGGATGGGATTGAAGAAAGGAAATTTATCTTGGTAAAGACTCTCAAAGGCACTGTTTCTCAGAGCAGACACGGGCAAGGGCTGCAGGTCCAAAAGTTCGGTTGGAGGGGGGTACTTCTCCGGCAAGATCAGGTGCCGGAAGGAGACAGGCAGCTGGGTCTCACAAGCTGCCAGAAAAGAAACAGGAAGGATATAAGCACTGCTCTCTTTCCCTCACTGGCCTCTAGATCCCCTCCATGAACACTGGAAACCTAGGCAGCATATGTATCACTCTGTCCCCAGCAAGGGCAAGCCCGGGACAAAGTGCAAGACATTCTTCTACTGTCCTTGGAGGGACTGTTCCTGGGGACTCTGGAGAGGAGACACTCACAGAGCCAGCGGTCAGACACCACTCGGATGAAGTACTGAGGGGGCAGCGGTTCAAAGACAGGCACGAAGAATGTAATGAGGTGCTCGTCCTGGGCGTACTTGGCCTTGAGGAGAAAATACTCATGGTGCAGAATCACCTCGCTGTCCACATCCTCCACCAGAATCCAAAAAGCCTCGGATGAACCATGCACCTGCCAACAGGAGCAAGGGTAAAAGGAATGTGAGTCAACGTAGACTGAGTGCCTCCAATCCATCTCCTCGGCCCAGCAACGTAGACTGAGCACCTCCAATCCAGCACCTCTGCCCAGCAAAGCCTCACCTTTTCATCCCACTGGAAGTCTGGCGTGATGGTCAGCTCCACCTTCAGGGTGGAGCGTGTGATAGGCTGCAGGTGCACTGACAACTCCAACTTGGGAAACAGATGGACATATTTGTGGATGGTCTTCCCCATCTTTGGCATGCGGATAAGCTCCCCTACAAGGAAATGAGAGTACTGAGGCTGCAGCCCAGCCTGCCTACTATACTGCAAACTGGGCCTGAGGGCCACTGTGGGAAAGGGGTAGGGTCTTCCCTTTATGGTCAGTGGAGCCCAGGATTCCAAGTCCCCAGACCAAGGGCCAGCCTGTACTTCAGTGGGACTTGGGGAGTGAACACAGGATACTAATGCACAGGCCTAGGAACAGGAAGACTACATAGGCAAACTGGGAGAGACACCCAGGCAGTGAGGACAAGGGCGAGAGCATCCCACACACCAATCTCATTATGATTCAGGTCGTACAGACGCTCAAAGGGGAAATTCTTCTTCTCAATCTTCTTCACTACTTCCTCAGGGAGTTTCCGGAACTGGCGCAGAGGACACATGGACTGCCACCTATCCAGGAAGGAGGCAAAGCTGTTGGTCCCTTCTGCAGGGATGTGACAAACCACCCACTTCATGGCTTCCAATAGTTTAGCAGTGACTACACAAAACACAGTCATTAAAGGCAGACACTGACACTGTGCCAGCCCTGGCCTCCACCACAGAGGGCCTTCCCTCTTCTCAATGTGCACCAAGGTTCAGGTCATACTTCCGATGTCAGGTCTGGAGATCAGATGCACCCTGAGGCTTTCCCATCAGACCCTTGGGTTGGGGACCCCCACTCATGGTGACCAGCATCCAGCTCACTGGGTCCTTACATGCGTTTGTCGATCATCTTGCAGAGGTTCAGGGTCTTGTCTGTAAGCTGTGCCCAACCTCGGTTCAGGACAATTTCAAATATCGCTCGCATCAACCGGCCAGCCAACTAAGCAAAGAAGCAGCATTCCCACTGTTAAGTCTCGACTATCCCCAGGCCTCATGAGCCACTCTACACACGGTTTCATTACCTCCAGCTCTGACACAACCACCCACCCTAACTCAAAGGCAAAGTCCCCTCTGTCTTTACGCCTTTCTCCGTTCCATATAGTAGATGCTTGCCGGATGGGGAACAATTAGAAGAGTGCTGCGGCTCAAGGTCACTGCACAACATTTTAACCTAACATTCACTGCATGATTTTAAAGCTTTTGAGTCATTTAGCATTTAGAGTTCTAGGAAGAGTTGAGGGTACCAGTGACCTGTTCTTAGAGGTAAAGATGAAGAGCAGCTAATAAAACCCTGTGCCATTTTTGGATTTATTTATGAGCTGTGCAGCAACAGTGGGAAATCACTTTGCTGCTGGGAAGCAGACACTGCGTGCTGTGGCTCTTCCTGTCTCTCTGAGGGCCCGTGGAGCCTCGAAGCATTCCCTCTTAAGGTCTTACCTTTCCCACGTGCTCAAGATGTATACTACAGAGTGGCTGTACCACACATGCACCAACCAACTACCCGGCAAGAGCAGAACTAAGCACTCCTCCCATCTCACTAGGGTCGGGCCTCCTTTCCCCAGGATGCACACAGCACACAGGGATTGAACTGTTCAGGCCCCTTCTCACAGCTGCCATACAACTCCGCTCTCACCTGTGTGACATACACCATGTCAGCCATCAGTGCAAAGCCCTCCAATTTCAGCTGTGAGATGAAGGCTTGCAGAAGAACGTTGATCTGTAAAGAAGCAAAATCAGCCAGCAGGAGACCAATCACTGAACAGTCCAAGAAAGGGAATTACATTTCTGCTCTGAGCATCCAGGCCAGGTGAGATTTGCTACAGGTCTTGATTTACAAATACTAAATAATTGTTATTTCATATAAAAAGAACATGCGAGAAGGCTGCAAAAACTAGGAGAACTGAGCAGGAAACCACACATGAACCCAAATTCAAGGTTCATCTTTTAGAAGATTATGAAAACCACTTAATCCTCATCCTTATCAAAGCAAAGAGGAGAGGAGCTCACCTTAGCACTGGGTTCCTCAATGCTCTCCTTTACAGGGATAGGCACCCTCTCCAGCAACTTCTGCAGCTCCAGCTTCTCCTCCTGCCACAAGGAGGAAAAGGTCAAGGGAAAGCCTTGTGGCCGAGGAGGGACACCATTCAGTGACTTGGTGAGCACCAACTCCCCGCCCCATCATGCTGCATAGGCTCACCTCTCTCACTGTGATGTTCTTGAACTCAGAGGACAATGAGAAGACCCTGAAAAGCTCAATCTCACTCAGGGTGGGCTTCAGCAGCTGGTTGTAAGTCTGCACTGTATCATTGGTGATGTAGTAGTGGCTGGCTATACGGCCCAGTTCTGTCACCTGGAGAGAAGGTAGACTCAATCCAGTGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAGCAATCTGAAAAATTTTTTCCTGGGCCAACAACTTTTGCTGAGACCTTTGCCTCAAAACCCTCACCCCACGCACCTGGAAGTTGCCCGTCTTCTTGTCGTACTTGACCAGATTGTTCTTGTCCAGCATCAGGGCAGCTGTATGAACCAGATCTAGTCGGCGCTGGTCCAGCAGGGGATCTCCCTTGAGGTCATCATGAGAGATGCCATAGAGGGTTGGGGATCGCAGCATTCGGATATAGAGGTAGGCATAGCCCAGCCAGTTCACCGCATCCTACAAGACACAGCTCATG
Task1_train_3835
Located on Chromosome 2, this mutation impacts SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Retinitis pigmentosa 33
AAATCACTTTGCTGCTGGGAAGCAGACACTGCGTGCTGTGGCTCTTCCTGTCTCTCTGAGGGCCCGTGGAGCCTCGAAGCATTCCCTCTTAAGGTCTTACCTTTCCCACGTGCTCAAGATGTATACTACAGAGTGGCTGTACCACACATGCACCAACCAACTACCCGGCAAGAGCAGAACTAAGCACTCCTCCCATCTCACTAGGGTCGGGCCTCCTTTCCCCAGGATGCACACAGCACACAGGGATTGAACTGTTCAGGCCCCTTCTCACAGCTGCCATACAACTCCGCTCTCACCTGTGTGACATACACCATGTCAGCCATCAGTGCAAAGCCCTCCAATTTCAGCTGTGAGATGAAGGCTTGCAGAAGAACGTTGATCTGTAAAGAAGCAAAATCAGCCAGCAGGAGACCAATCACTGAACAGTCCAAGAAAGGGAATTACATTTCTGCTCTGAGCATCCAGGCCAGGTGAGATTTGCTACAGGTCTTGATTTACAAATACTAAATAATTGTTATTTCATATAAAAAGAACATGCGAGAAGGCTGCAAAAACTAGGAGAACTGAGCAGGAAACCACACATGAACCCAAATTCAAGGTTCATCTTTTAGAAGATTATGAAAACCACTTAATCCTCATCCTTATCAAAGCAAAGAGGAGAGGAGCTCACCTTAGCACTGGGTTCCTCAATGCTCTCCTTTACAGGGATAGGCACCCTCTCCAGCAACTTCTGCAGCTCCAGCTTCTCCTCCTGCCACAAGGAGGAAAAGGTCAAGGGAAAGCCTTGTGGCCGAGGAGGGACACCATTCAGTGACTTGGTGAGCACCAACTCCCCGCCCCATCATGCTGCATAGGCTCACCTCTCTCACTGTGATGTTCTTGAACTCAGAGGACAATGAGAAGACCCTGAAAAGCTCAATCTCACTCAGGGTGGGCTTCAGCAGCTGGTTGTAAGTCTGCACTGTATCATTGGTGATGTAGTAGTGGCTGGCTATACGGCCCAGTTCTGTCACCTGGAGAGAAGGTAGACTCAATCCAGTGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAGCAATCTGAAAAATTTTTTCCTGGGCCAACAACTTTTGCTGAGACCTTTGCCTCAAAACCCTCACCCCACGCACCTGGAAGTTGCCCGTCTTCTTGTCGTACTTGACCAGATTGTTCTTGTCCAGCATCAGGGCAGCTGTATGAACCAGATCTAGTCGGCGCTGGTCCAGCAGGGGATCTCCCTTGAGGTCATCATGAGAGATGCCATAGAGGGTTGGGGATCGCAGCATTCGGATATAGAGGTAGGCATAGCCCAGCCAGTTCACCGCATCCTACAAGACACAGCTCATGGTTCTTAGCATGGAGAAACTCTTGATGTCCAAATGACAGGCTCCCATGAATTGCTTAGAAATTAATTCCCAACTACAAGGATGCATATTACATCGTATTCTGAATGTTTTTAGCATTTCATTATTAAAAAGATCTAAGCGTCTTCTAAGATCTTGGTAACAAGGGGAACTATCTGCCAGACCCAAGATGTGGGTGCAGGGATGGAAGGCCTCGGACGCTGCTGGCCCGCAGCACAATAGGGACCGACCCACTCCTGGTGCCTTGGTGTCTGCGGGGAAAGCATGAAGCACAACAAGCAGTCCTCCCCTACCTTGGCATTCTGGACATTTCCTAGCACGATTTCTGCATTGAGCATGTCAGGAAGCTTTGAAACCATCTGGCTTTCAATAGGAAGTTGTTGATTGAGGAGGGACAGGTAGTACTGTAGCTCCCCATGAGATGTGATGAGTATGCCTTCACCCTTGGTGTCATACTGGGGTCTTCCGGCACGTCCCAGCATCTAGATCAGAGACAGCGAACCAAGAATGCTATGTCAAGAGAATGTCTGAATTTTGATGCAGGTATCTACATTACAGAACTAGACCTCTGATCTGCTAGCTTTCCAGCATCCCTGCATTTCAGGCAAGGATACTGATCCCTGCTGAGAATAAACTCAAAAGGCTCTGTACCTGCAGAATGTCCAGTGCTCCCAGTTCTGTCCAACGCCCCTTCTCTGGACTGTACACCTGGGTGCCTTTGATGATGACTGTATGTGCAGGGAGATTCACACCCCAAGCTAGAGTTGCTGTGGAAACTAAAACCTACAGAGGCAAAACAAGGTAATGAGGAGAACAGATGCCATCACCAGGGGTTAATATCCCTGGCTTCTCTAGGCAGTTGGCCTCAGAGCTTCTCTCAGGACTAGCCGGTAGGGCGCGTGGGGTCCCAGTACTTGTCAATGTGACACCAGAATAAAGAGGAAAGGTTTCCTTGGGTTCCTCATCTATTCAGTAATGAACATTTCAAGGTTCCAGAGGCACAAGTGCAGACTTGTATTAAACAACCTTAAAGTTACTAGAAAAGGTAAAACAGAGCCTATCCGGAAAGAGGGAACGACAAGGGCACGCGTGCCCCCATGAGACACTGTTTGGAGCTATCTGAAGTCACCAAAGTGCTTGCTTCACTATGCTTCTCAGACTATCCTAAACTCAAGCAAGGTGGGAAGAGTTGGGAGAGTAGCATAAGGTTCTATTTATTGTGTCCACCACAACCCTCTGACCTGGGCTAGCTGGGCCAGAAGCAATAAAGTACCAGGAGCAAACATGGCACAAACTTGACATTGCCCATCTTCTGAAGTATGTCCCACCTGCTCCTCCAAACGCTTTGCACCCCCTCACCTGAATATGTTTATCAGCAAAAAGATCCTCCACGAGTGTTCGGTCAACCCTGGTCATGCCTGCGTGATGAATAGCAAAGCCATAAGGCAGAAGATCCTTCAGCTCTAGGTTCTGTGGAACAAAGAACCGGGGATGAGGCGAGCCTTCCTGTAGGACTCATCCAAGGACTAAGGAAATCTCCTCCCATGAGACCCTGCCCCTTAACTATTATGTGGAATAGTAATAATCACATCCAGACAATCAACCTTAACCCATGGGAAACAACAATACCACAGTACAGTCCTAGAGGAGCTGTCTGGGGCCTGAGATGGACACAGCTGCCAGGTAGGAATGAGAGAACCCAGCTGGCCCCTCCTCACCTTGCACTGCTCAGCTTCTGTTCGCAGGACTTCTGTGGAGGCTGAGCCCTCCCTCAGAAACAGACCCAGAGTGTCCTTTTCTAGGCACATGTCCCGGATGGCCCTGGCTGTCTTTCCAGTCTCCTTCCGGGAGTGGACAAACACCAGCACCTAAGGAGAAGCCACAGTTTGCTACAGTCACGAGATACTCACAGCCCCAGGGCACCTGCAGCAGGAAGCAGAAGTTGCACCATCACCACCAGAAGCCAAGGTCCTGGAGAGGGGCAAGGGCAGGAATGTGTGCAGGCTCAGAGGAAGCCTAAACACGGCTGGAAAGACTTTTAAGGGAATGCACCCACCAAGTTCACAGTCCTGGAGCTGAGAAATTAAACCAACTTCAACATCCTATCTTGAACAGCAACTTTAAATAGACTACAACTACAAATTCGGGCCTCTCAACTCAGAATTTATGTTCAAGCACCTAACAAGAGTCAAAGCTGCATGAAAATGTGTCTGCAAAATAACAACTAAAACATTACACTACTTATAAAAGGATTTAGGAAATAAGTCTGAGACTAGTACACTGTTGTAGGGAATGAAGTCTTCCTAGTATTTAGTGCCAAGAAAAGATCTGTCTCTTCATATAAATTCATATGCTTCTTTTCATCAGACAAAAAGAAATACAAAACCAGTCACTTTTCCTTATTTTTTGTTAGTTAACATTGCTCAACTC
AAATCACTTTGCTGCTGGGAAGCAGACACTGCGTGCTGTGGCTCTTCCTGTCTCTCTGAGGGCCCGTGGAGCCTCGAAGCATTCCCTCTTAAGGTCTTACCTTTCCCACGTGCTCAAGATGTATACTACAGAGTGGCTGTACCACACATGCACCAACCAACTACCCGGCAAGAGCAGAACTAAGCACTCCTCCCATCTCACTAGGGTCGGGCCTCCTTTCCCCAGGATGCACACAGCACACAGGGATTGAACTGTTCAGGCCCCTTCTCACAGCTGCCATACAACTCCGCTCTCACCTGTGTGACATACACCATGTCAGCCATCAGTGCAAAGCCCTCCAATTTCAGCTGTGAGATGAAGGCTTGCAGAAGAACGTTGATCTGTAAAGAAGCAAAATCAGCCAGCAGGAGACCAATCACTGAACAGTCCAAGAAAGGGAATTACATTTCTGCTCTGAGCATCCAGGCCAGGTGAGATTTGCTACAGGTCTTGATTTACAAATACTAAATAATTGTTATTTCATATAAAAAGAACATGCGAGAAGGCTGCAAAAACTAGGAGAACTGAGCAGGAAACCACACATGAACCCAAATTCAAGGTTCATCTTTTAGAAGATTATGAAAACCACTTAATCCTCATCCTTATCAAAGCAAAGAGGAGAGGAGCTCACCTTAGCACTGGGTTCCTCAATGCTCTCCTTTACAGGGATAGGCACCCTCTCCAGCAACTTCTGCAGCTCCAGCTTCTCCTCCTGCCACAAGGAGGAAAAGGTCAAGGGAAAGCCTTGTGGCCGAGGAGGGACACCATTCAGTGACTTGGTGAGCACCAACTCCCCGCCCCATCATGCTGCATAGGCTCACCTCTCTCACTGTGATGTTCTTGAACTCAGAGGACAATGAGAAGACCCTGAAAAGCTCAATCTCACTCAGGGTGGGCTTCAGCAGCTGGTTGTAAGTCTGCACTGTATCATTGGTGATGTAGTAGTGGCTGGCTATACGGCCCAGTTCTGTCACCTGGAGAGAAGGTAGACTCAATCCAGTGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAGCAATCTGAAAAATTTTTTCCTGGGCCAACAACTTTTGCTGAGACCTTTGCCTCAAAACCCTCACCCCACGCACCTGGAAGTTGCCCGTCTTCTTGTCGTACTTGACCAGATTGTTCTTGTCCAGCATCAGGGCAGCTGTATGAACCAGATCTAGTCGGCGCTGGTCCAGCAGGGGATCTCCCTTGAGGTCATCATGAGAGATGCCATAGAGGGTTGGGGATCGCAGCATTCGGATATAGAGGTAGGCATAGCCCAGCCAGTTCACCGCATCCTACAAGACACAGCTCATGGTTCTTAGCATGGAGAAACTCTTGATGTCCAAATGACAGGCTCCCATGAATTGCTTAGAAATTAATTCCCAACTACAAGGATGCATATTACATCGTATTCTGAATGTTTTTAGCATTTCATTATTAAAAAGATCTAAGCGTCTTCTAAGATCTTGGTAACAAGGGGAACTATCTGCCAGACCCAAGATGTGGGTGCAGGGATGGAAGGCCTCGGACGCTGCTGGCCCGCAGCACAATAGGGACCGACCCACTCCTGGTGCCTTGGTGTCTGCGGGGAAAGCATGAAGCACAACAAGCAGTCCTCCCCTACCTTGGCATTCTGGACATTTCCTAGCACGATTTCTGCATTGAGCATGTCAGGAAGCTTTGAAACCATCTGGCTTTCAATAGGAAGTTGTTCATTGAGGAGGGACAGGTAGTACTGTAGCTCCCCATGAGATGTGATGAGTATGCCTTCACCCTTGGTGTCATACTGGGGTCTTCCGGCACGTCCCAGCATCTAGATCAGAGACAGCGAACCAAGAATGCTATGTCAAGAGAATGTCTGAATTTTGATGCAGGTATCTACATTACAGAACTAGACCTCTGATCTGCTAGCTTTCCAGCATCCCTGCATTTCAGGCAAGGATACTGATCCCTGCTGAGAATAAACTCAAAAGGCTCTGTACCTGCAGAATGTCCAGTGCTCCCAGTTCTGTCCAACGCCCCTTCTCTGGACTGTACACCTGGGTGCCTTTGATGATGACTGTATGTGCAGGGAGATTCACACCCCAAGCTAGAGTTGCTGTGGAAACTAAAACCTACAGAGGCAAAACAAGGTAATGAGGAGAACAGATGCCATCACCAGGGGTTAATATCCCTGGCTTCTCTAGGCAGTTGGCCTCAGAGCTTCTCTCAGGACTAGCCGGTAGGGCGCGTGGGGTCCCAGTACTTGTCAATGTGACACCAGAATAAAGAGGAAAGGTTTCCTTGGGTTCCTCATCTATTCAGTAATGAACATTTCAAGGTTCCAGAGGCACAAGTGCAGACTTGTATTAAACAACCTTAAAGTTACTAGAAAAGGTAAAACAGAGCCTATCCGGAAAGAGGGAACGACAAGGGCACGCGTGCCCCCATGAGACACTGTTTGGAGCTATCTGAAGTCACCAAAGTGCTTGCTTCACTATGCTTCTCAGACTATCCTAAACTCAAGCAAGGTGGGAAGAGTTGGGAGAGTAGCATAAGGTTCTATTTATTGTGTCCACCACAACCCTCTGACCTGGGCTAGCTGGGCCAGAAGCAATAAAGTACCAGGAGCAAACATGGCACAAACTTGACATTGCCCATCTTCTGAAGTATGTCCCACCTGCTCCTCCAAACGCTTTGCACCCCCTCACCTGAATATGTTTATCAGCAAAAAGATCCTCCACGAGTGTTCGGTCAACCCTGGTCATGCCTGCGTGATGAATAGCAAAGCCATAAGGCAGAAGATCCTTCAGCTCTAGGTTCTGTGGAACAAAGAACCGGGGATGAGGCGAGCCTTCCTGTAGGACTCATCCAAGGACTAAGGAAATCTCCTCCCATGAGACCCTGCCCCTTAACTATTATGTGGAATAGTAATAATCACATCCAGACAATCAACCTTAACCCATGGGAAACAACAATACCACAGTACAGTCCTAGAGGAGCTGTCTGGGGCCTGAGATGGACACAGCTGCCAGGTAGGAATGAGAGAACCCAGCTGGCCCCTCCTCACCTTGCACTGCTCAGCTTCTGTTCGCAGGACTTCTGTGGAGGCTGAGCCCTCCCTCAGAAACAGACCCAGAGTGTCCTTTTCTAGGCACATGTCCCGGATGGCCCTGGCTGTCTTTCCAGTCTCCTTCCGGGAGTGGACAAACACCAGCACCTAAGGAGAAGCCACAGTTTGCTACAGTCACGAGATACTCACAGCCCCAGGGCACCTGCAGCAGGAAGCAGAAGTTGCACCATCACCACCAGAAGCCAAGGTCCTGGAGAGGGGCAAGGGCAGGAATGTGTGCAGGCTCAGAGGAAGCCTAAACACGGCTGGAAAGACTTTTAAGGGAATGCACCCACCAAGTTCACAGTCCTGGAGCTGAGAAATTAAACCAACTTCAACATCCTATCTTGAACAGCAACTTTAAATAGACTACAACTACAAATTCGGGCCTCTCAACTCAGAATTTATGTTCAAGCACCTAACAAGAGTCAAAGCTGCATGAAAATGTGTCTGCAAAATAACAACTAAAACATTACACTACTTATAAAAGGATTTAGGAAATAAGTCTGAGACTAGTACACTGTTGTAGGGAATGAAGTCTTCCTAGTATTTAGTGCCAAGAAAAGATCTGTCTCTTCATATAAATTCATATGCTTCTTTTCATCAGACAAAAAGAAATACAAAACCAGTCACTTTTCCTTATTTTTTGTTAGTTAACATTGCTCAACTC
Task1_train_3836
Given this variant in gene SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Retinitis pigmentosa 33
TGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAGCAATCTGAAAAATTTTTTCCTGGGCCAACAACTTTTGCTGAGACCTTTGCCTCAAAACCCTCACCCCACGCACCTGGAAGTTGCCCGTCTTCTTGTCGTACTTGACCAGATTGTTCTTGTCCAGCATCAGGGCAGCTGTATGAACCAGATCTAGTCGGCGCTGGTCCAGCAGGGGATCTCCCTTGAGGTCATCATGAGAGATGCCATAGAGGGTTGGGGATCGCAGCATTCGGATATAGAGGTAGGCATAGCCCAGCCAGTTCACCGCATCCTACAAGACACAGCTCATGGTTCTTAGCATGGAGAAACTCTTGATGTCCAAATGACAGGCTCCCATGAATTGCTTAGAAATTAATTCCCAACTACAAGGATGCATATTACATCGTATTCTGAATGTTTTTAGCATTTCATTATTAAAAAGATCTAAGCGTCTTCTAAGATCTTGGTAACAAGGGGAACTATCTGCCAGACCCAAGATGTGGGTGCAGGGATGGAAGGCCTCGGACGCTGCTGGCCCGCAGCACAATAGGGACCGACCCACTCCTGGTGCCTTGGTGTCTGCGGGGAAAGCATGAAGCACAACAAGCAGTCCTCCCCTACCTTGGCATTCTGGACATTTCCTAGCACGATTTCTGCATTGAGCATGTCAGGAAGCTTTGAAACCATCTGGCTTTCAATAGGAAGTTGTTGATTGAGGAGGGACAGGTAGTACTGTAGCTCCCCATGAGATGTGATGAGTATGCCTTCACCCTTGGTGTCATACTGGGGTCTTCCGGCACGTCCCAGCATCTAGATCAGAGACAGCGAACCAAGAATGCTATGTCAAGAGAATGTCTGAATTTTGATGCAGGTATCTACATTACAGAACTAGACCTCTGATCTGCTAGCTTTCCAGCATCCCTGCATTTCAGGCAAGGATACTGATCCCTGCTGAGAATAAACTCAAAAGGCTCTGTACCTGCAGAATGTCCAGTGCTCCCAGTTCTGTCCAACGCCCCTTCTCTGGACTGTACACCTGGGTGCCTTTGATGATGACTGTATGTGCAGGGAGATTCACACCCCAAGCTAGAGTTGCTGTGGAAACTAAAACCTACAGAGGCAAAACAAGGTAATGAGGAGAACAGATGCCATCACCAGGGGTTAATATCCCTGGCTTCTCTAGGCAGTTGGCCTCAGAGCTTCTCTCAGGACTAGCCGGTAGGGCGCGTGGGGTCCCAGTACTTGTCAATGTGACACCAGAATAAAGAGGAAAGGTTTCCTTGGGTTCCTCATCTATTCAGTAATGAACATTTCAAGGTTCCAGAGGCACAAGTGCAGACTTGTATTAAACAACCTTAAAGTTACTAGAAAAGGTAAAACAGAGCCTATCCGGAAAGAGGGAACGACAAGGGCACGCGTGCCCCCATGAGACACTGTTTGGAGCTATCTGAAGTCACCAAAGTGCTTGCTTCACTATGCTTCTCAGACTATCCTAAACTCAAGCAAGGTGGGAAGAGTTGGGAGAGTAGCATAAGGTTCTATTTATTGTGTCCACCACAACCCTCTGACCTGGGCTAGCTGGGCCAGAAGCAATAAAGTACCAGGAGCAAACATGGCACAAACTTGACATTGCCCATCTTCTGAAGTATGTCCCACCTGCTCCTCCAAACGCTTTGCACCCCCTCACCTGAATATGTTTATCAGCAAAAAGATCCTCCACGAGTGTTCGGTCAACCCTGGTCATGCCTGCGTGATGAATAGCAAAGCCATAAGGCAGAAGATCCTTCAGCTCTAGGTTCTGTGGAACAAAGAACCGGGGATGAGGCGAGCCTTCCTGTAGGACTCATCCAAGGACTAAGGAAATCTCCTCCCATGAGACCCTGCCCCTTAACTATTATGTGGAATAGTAATAATCACATCCAGACAATCAACCTTAACCCATGGGAAACAACAATACCACAGTACAGTCCTAGAGGAGCTGTCTGGGGCCTGAGATGGACACAGCTGCCAGGTAGGAATGAGAGAACCCAGCTGGCCCCTCCTCACCTTGCACTGCTCAGCTTCTGTTCGCAGGACTTCTGTGGAGGCTGAGCCCTCCCTCAGAAACAGACCCAGAGTGTCCTTTTCTAGGCACATGTCCCGGATGGCCCTGGCTGTCTTTCCAGTCTCCTTCCGGGAGTGGACAAACACCAGCACCTAAGGAGAAGCCACAGTTTGCTACAGTCACGAGATACTCACAGCCCCAGGGCACCTGCAGCAGGAAGCAGAAGTTGCACCATCACCACCAGAAGCCAAGGTCCTGGAGAGGGGCAAGGGCAGGAATGTGTGCAGGCTCAGAGGAAGCCTAAACACGGCTGGAAAGACTTTTAAGGGAATGCACCCACCAAGTTCACAGTCCTGGAGCTGAGAAATTAAACCAACTTCAACATCCTATCTTGAACAGCAACTTTAAATAGACTACAACTACAAATTCGGGCCTCTCAACTCAGAATTTATGTTCAAGCACCTAACAAGAGTCAAAGCTGCATGAAAATGTGTCTGCAAAATAACAACTAAAACATTACACTACTTATAAAAGGATTTAGGAAATAAGTCTGAGACTAGTACACTGTTGTAGGGAATGAAGTCTTCCTAGTATTTAGTGCCAAGAAAAGATCTGTCTCTTCATATAAATTCATATGCTTCTTTTCATCAGACAAAAAGAAATACAAAACCAGTCACTTTTCCTTATTTTTTGTTAGTTAACATTGCTCAACTCGACTTTCAATTTAAAAATTCTATCACACTGTCTAGTAAAATGCCCTCTAGTTTTTCATTTTCCTCTTTTTATTGTCTTGCATTTTTAGTGTAAGTGACCCCAAATCTTTTATGGAGGGACCCTGGATAATGCGAATGCACAAAACAATTATCTGGGACTGGGGATTGCTTGCTGGGGGGATTTTTAATTCTCCAACTCTCTAATAGTTGTAGGGCTCTTCATGTTATCTATTTCATCTGGGCTGAGTTTTGCTAGTTAACTGGTAGTTGTTGGAGAACTGGTCCATTTCTTCTGAATTTTTAAAGTTATGAGCATAAAATTACTCATAGTATTCCCTTATTATCCTTCCAGTGGCTATAGGTTCTGTAGTAATATCCCATTTCATAGCTGATATTGGTGATTTATGTTGTGTCTTCTCTCTTTTAATTTCTGTCAATCTTCCCCAATTATTGGTGAATCAAACATTCGAAAGAATGGGGTTCAAGAGTAACCATAAACCACGGGCAAACCTGATTTTTTCCAGCATGTTCCATGATTTTTTCATAGACGATTTCATTCATGATCTGGAAACGCTTGATAGCTTTTTTCTCTGTGATACCCACATATGTCTGTTCCAGAGGCACTGGACGGAAGCTAGAAGTTCAACAGTTAGACAAATGAGGCTTTGGCAGAAAATACTGTGGGAATAAACAGTCTTTTTCACTGCCCCAAGAGCAATATTCCTCCTTTATGATTCACACCACATCAAAACCCAAAGGCCCTTCTAAAACCCAACCCAGTAGCACTCCTTGGAAAAGAGGAAAGAGAGCAGGATGGTCACCTTGGCAGAACTTTGCCCAGTCTTTCCTGATACCTGTTGTCAAAGTAAAAGAGACCCTTGGCAGGGTCAACACGTAGAAAGGTGGCTACATCTTCATAGTTGGGTAGGGTGGCACTGAGACCAATGAGTCGGACATCCTCTTGGGTCATCTCAATGTTTCGGATGGCCCTGGCCACTAAAGCTTCTAAGACAGGACCTCTGTCATCGTGGAGAAGATGA
TGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAGCAATCTGAAAAATTTTTTCCTGGGCCAACAACTTTTGCTGAGACCTTTGCCTCAAAACCCTCACCCCACGCACCTGGAAGTTGCCCGTCTTCTTGTCGTACTTGACCAGATTGTTCTTGTCCAGCATCAGGGCAGCTGTATGAACCAGATCTAGTCGGCGCTGGTCCAGCAGGGGATCTCCCTTGAGGTCATCATGAGAGATGCCATAGAGGGTTGGGGATCGCAGCATTCGGATATAGAGGTAGGCATAGCCCAGCCAGTTCACCGCATCCTACAAGACACAGCTCATGGTTCTTAGCATGGAGAAACTCTTGATGTCCAAATGACAGGCTCCCATGAATTGCTTAGAAATTAATTCCCAACTACAAGGATGCATATTACATCGTATTCTGAATGTTTTTAGCATTTCATTATTAAAAAGATCTAAGCGTCTTCTAAGATCTTGGTAACAAGGGGAACTATCTGCCAGACCCAAGATGTGGGTGCAGGGATGGAAGGCCTCGGACGCTGCTGGCCCGCAGCACAATAGGGACCGACCCACTCCTGGTGCCTTGGTGTCTGCGGGGAAAGCATGAAGCACAACAAGCAGTCCTCCCCTACCTTGGCATTCTGGACATTTCCTAGCACGATTTCTGCATTGAGCATGTCAGGAAGCTTTGAAACCATCTGGCTTTCAATAGGAAGTTGTTGATTGAGGAGGGACAGGTAGTACTGTAGCTCCCCATGAGATGTGATGAGTATGCCTTCACCCTTGGTGTCATACTGGGGTCTTCCGGCACGTCCCAGCATCTAGATCAGAGACAGCGAACCAAGAATGCTATGTCAAGAGAATGTCTGAATTTTGATGCAGGTATCTACATTACAGAACTAGACCTCTGATCTGCTAGCTTTCCAGCATCCCTGCATTTCAGGCAAGGATACTGATCCCTGCTGAGAATAAACTCAAAAGGCTCTGTACCTGCAGAATGTCCAGTGCTCCCAGTTCTGTCCAACGCCCCTTCTCTGGACTGTACACCTGGGTGCCTTTGATGATGACTGTATGTGCAGGGAGATTCACACCCCAAGCTAGAGTTGCTGTGGAAACTAAAACCTACAGAGGCAAAACAAGGTAATGAGGAGAACAGATGCCATCACCAGGGGTTAATATCCCTGGCTTCTCTAGGCAGTTGGCCTCAGAGCTTCTCTCAGGACTAGCCGGTAGGGCGCGTGGGGTCCCAGTACTTGTCAATGTGACACCAGAATAAAGAGGAAAGGTTTCCTTGGGTTCCTCATCTATTCAGTAATGAACATTTCAAGGTTCCAGAGGCACAAGTGCAGACTTGTATTAAACAACCTTAAAGTTACTAGAAAAGGTAAAACAGAGCCTATCCGGAAAGAGGGAACGACAAGGGCACGCGTGCCCCCATGAGACACTGTTTGGAGCTATCTGAAGTCACCAAAGTGCTTGCTTCACTATGCTTCTCAGACTATCCTAAACTCAAGCAAGGTGGGAAGAGTTGGGAGAGTAGCATAAGGTTCTATTTATTGTGTCCACCACAACCCTCTGACCTGGGCTAGCTGGGCCAGAAGCAATAAAGTACCAGGAGCAAACATGGCACAAACTTGACATTGCCCATCTTCTGAAGTATGTCCCACCTGCTCCTCCAAACGCTTTGCACCCCCTCACCTGAATATGTTTATCAGCAAAAAGATCCTCCACGAGTGTTCGGTCAACCCTGGTCATGCCTGTGTGATGAATAGCAAAGCCATAAGGCAGAAGATCCTTCAGCTCTAGGTTCTGTGGAACAAAGAACCGGGGATGAGGCGAGCCTTCCTGTAGGACTCATCCAAGGACTAAGGAAATCTCCTCCCATGAGACCCTGCCCCTTAACTATTATGTGGAATAGTAATAATCACATCCAGACAATCAACCTTAACCCATGGGAAACAACAATACCACAGTACAGTCCTAGAGGAGCTGTCTGGGGCCTGAGATGGACACAGCTGCCAGGTAGGAATGAGAGAACCCAGCTGGCCCCTCCTCACCTTGCACTGCTCAGCTTCTGTTCGCAGGACTTCTGTGGAGGCTGAGCCCTCCCTCAGAAACAGACCCAGAGTGTCCTTTTCTAGGCACATGTCCCGGATGGCCCTGGCTGTCTTTCCAGTCTCCTTCCGGGAGTGGACAAACACCAGCACCTAAGGAGAAGCCACAGTTTGCTACAGTCACGAGATACTCACAGCCCCAGGGCACCTGCAGCAGGAAGCAGAAGTTGCACCATCACCACCAGAAGCCAAGGTCCTGGAGAGGGGCAAGGGCAGGAATGTGTGCAGGCTCAGAGGAAGCCTAAACACGGCTGGAAAGACTTTTAAGGGAATGCACCCACCAAGTTCACAGTCCTGGAGCTGAGAAATTAAACCAACTTCAACATCCTATCTTGAACAGCAACTTTAAATAGACTACAACTACAAATTCGGGCCTCTCAACTCAGAATTTATGTTCAAGCACCTAACAAGAGTCAAAGCTGCATGAAAATGTGTCTGCAAAATAACAACTAAAACATTACACTACTTATAAAAGGATTTAGGAAATAAGTCTGAGACTAGTACACTGTTGTAGGGAATGAAGTCTTCCTAGTATTTAGTGCCAAGAAAAGATCTGTCTCTTCATATAAATTCATATGCTTCTTTTCATCAGACAAAAAGAAATACAAAACCAGTCACTTTTCCTTATTTTTTGTTAGTTAACATTGCTCAACTCGACTTTCAATTTAAAAATTCTATCACACTGTCTAGTAAAATGCCCTCTAGTTTTTCATTTTCCTCTTTTTATTGTCTTGCATTTTTAGTGTAAGTGACCCCAAATCTTTTATGGAGGGACCCTGGATAATGCGAATGCACAAAACAATTATCTGGGACTGGGGATTGCTTGCTGGGGGGATTTTTAATTCTCCAACTCTCTAATAGTTGTAGGGCTCTTCATGTTATCTATTTCATCTGGGCTGAGTTTTGCTAGTTAACTGGTAGTTGTTGGAGAACTGGTCCATTTCTTCTGAATTTTTAAAGTTATGAGCATAAAATTACTCATAGTATTCCCTTATTATCCTTCCAGTGGCTATAGGTTCTGTAGTAATATCCCATTTCATAGCTGATATTGGTGATTTATGTTGTGTCTTCTCTCTTTTAATTTCTGTCAATCTTCCCCAATTATTGGTGAATCAAACATTCGAAAGAATGGGGTTCAAGAGTAACCATAAACCACGGGCAAACCTGATTTTTTCCAGCATGTTCCATGATTTTTTCATAGACGATTTCATTCATGATCTGGAAACGCTTGATAGCTTTTTTCTCTGTGATACCCACATATGTCTGTTCCAGAGGCACTGGACGGAAGCTAGAAGTTCAACAGTTAGACAAATGAGGCTTTGGCAGAAAATACTGTGGGAATAAACAGTCTTTTTCACTGCCCCAAGAGCAATATTCCTCCTTTATGATTCACACCACATCAAAACCCAAAGGCCCTTCTAAAACCCAACCCAGTAGCACTCCTTGGAAAAGAGGAAAGAGAGCAGGATGGTCACCTTGGCAGAACTTTGCCCAGTCTTTCCTGATACCTGTTGTCAAAGTAAAAGAGACCCTTGGCAGGGTCAACACGTAGAAAGGTGGCTACATCTTCATAGTTGGGTAGGGTGGCACTGAGACCAATGAGTCGGACATCCTCTTGGGTCATCTCAATGTTTCGGATGGCCCTGGCCACTAAAGCTTCTAAGACAGGACCTCTGTCATCGTGGAGAAGATGA
Task1_train_3837
This variant affects gene SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200) located on Chromosome 2. Evaluate its biological effect and specify any disease association.
Pathogenic; Retinal dystrophy
TGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAGCAATCTGAAAAATTTTTTCCTGGGCCAACAACTTTTGCTGAGACCTTTGCCTCAAAACCCTCACCCCACGCACCTGGAAGTTGCCCGTCTTCTTGTCGTACTTGACCAGATTGTTCTTGTCCAGCATCAGGGCAGCTGTATGAACCAGATCTAGTCGGCGCTGGTCCAGCAGGGGATCTCCCTTGAGGTCATCATGAGAGATGCCATAGAGGGTTGGGGATCGCAGCATTCGGATATAGAGGTAGGCATAGCCCAGCCAGTTCACCGCATCCTACAAGACACAGCTCATGGTTCTTAGCATGGAGAAACTCTTGATGTCCAAATGACAGGCTCCCATGAATTGCTTAGAAATTAATTCCCAACTACAAGGATGCATATTACATCGTATTCTGAATGTTTTTAGCATTTCATTATTAAAAAGATCTAAGCGTCTTCTAAGATCTTGGTAACAAGGGGAACTATCTGCCAGACCCAAGATGTGGGTGCAGGGATGGAAGGCCTCGGACGCTGCTGGCCCGCAGCACAATAGGGACCGACCCACTCCTGGTGCCTTGGTGTCTGCGGGGAAAGCATGAAGCACAACAAGCAGTCCTCCCCTACCTTGGCATTCTGGACATTTCCTAGCACGATTTCTGCATTGAGCATGTCAGGAAGCTTTGAAACCATCTGGCTTTCAATAGGAAGTTGTTGATTGAGGAGGGACAGGTAGTACTGTAGCTCCCCATGAGATGTGATGAGTATGCCTTCACCCTTGGTGTCATACTGGGGTCTTCCGGCACGTCCCAGCATCTAGATCAGAGACAGCGAACCAAGAATGCTATGTCAAGAGAATGTCTGAATTTTGATGCAGGTATCTACATTACAGAACTAGACCTCTGATCTGCTAGCTTTCCAGCATCCCTGCATTTCAGGCAAGGATACTGATCCCTGCTGAGAATAAACTCAAAAGGCTCTGTACCTGCAGAATGTCCAGTGCTCCCAGTTCTGTCCAACGCCCCTTCTCTGGACTGTACACCTGGGTGCCTTTGATGATGACTGTATGTGCAGGGAGATTCACACCCCAAGCTAGAGTTGCTGTGGAAACTAAAACCTACAGAGGCAAAACAAGGTAATGAGGAGAACAGATGCCATCACCAGGGGTTAATATCCCTGGCTTCTCTAGGCAGTTGGCCTCAGAGCTTCTCTCAGGACTAGCCGGTAGGGCGCGTGGGGTCCCAGTACTTGTCAATGTGACACCAGAATAAAGAGGAAAGGTTTCCTTGGGTTCCTCATCTATTCAGTAATGAACATTTCAAGGTTCCAGAGGCACAAGTGCAGACTTGTATTAAACAACCTTAAAGTTACTAGAAAAGGTAAAACAGAGCCTATCCGGAAAGAGGGAACGACAAGGGCACGCGTGCCCCCATGAGACACTGTTTGGAGCTATCTGAAGTCACCAAAGTGCTTGCTTCACTATGCTTCTCAGACTATCCTAAACTCAAGCAAGGTGGGAAGAGTTGGGAGAGTAGCATAAGGTTCTATTTATTGTGTCCACCACAACCCTCTGACCTGGGCTAGCTGGGCCAGAAGCAATAAAGTACCAGGAGCAAACATGGCACAAACTTGACATTGCCCATCTTCTGAAGTATGTCCCACCTGCTCCTCCAAACGCTTTGCACCCCCTCACCTGAATATGTTTATCAGCAAAAAGATCCTCCACGAGTGTTCGGTCAACCCTGGTCATGCCTGCGTGATGAATAGCAAAGCCATAAGGCAGAAGATCCTTCAGCTCTAGGTTCTGTGGAACAAAGAACCGGGGATGAGGCGAGCCTTCCTGTAGGACTCATCCAAGGACTAAGGAAATCTCCTCCCATGAGACCCTGCCCCTTAACTATTATGTGGAATAGTAATAATCACATCCAGACAATCAACCTTAACCCATGGGAAACAACAATACCACAGTACAGTCCTAGAGGAGCTGTCTGGGGCCTGAGATGGACACAGCTGCCAGGTAGGAATGAGAGAACCCAGCTGGCCCCTCCTCACCTTGCACTGCTCAGCTTCTGTTCGCAGGACTTCTGTGGAGGCTGAGCCCTCCCTCAGAAACAGACCCAGAGTGTCCTTTTCTAGGCACATGTCCCGGATGGCCCTGGCTGTCTTTCCAGTCTCCTTCCGGGAGTGGACAAACACCAGCACCTAAGGAGAAGCCACAGTTTGCTACAGTCACGAGATACTCACAGCCCCAGGGCACCTGCAGCAGGAAGCAGAAGTTGCACCATCACCACCAGAAGCCAAGGTCCTGGAGAGGGGCAAGGGCAGGAATGTGTGCAGGCTCAGAGGAAGCCTAAACACGGCTGGAAAGACTTTTAAGGGAATGCACCCACCAAGTTCACAGTCCTGGAGCTGAGAAATTAAACCAACTTCAACATCCTATCTTGAACAGCAACTTTAAATAGACTACAACTACAAATTCGGGCCTCTCAACTCAGAATTTATGTTCAAGCACCTAACAAGAGTCAAAGCTGCATGAAAATGTGTCTGCAAAATAACAACTAAAACATTACACTACTTATAAAAGGATTTAGGAAATAAGTCTGAGACTAGTACACTGTTGTAGGGAATGAAGTCTTCCTAGTATTTAGTGCCAAGAAAAGATCTGTCTCTTCATATAAATTCATATGCTTCTTTTCATCAGACAAAAAGAAATACAAAACCAGTCACTTTTCCTTATTTTTTGTTAGTTAACATTGCTCAACTCGACTTTCAATTTAAAAATTCTATCACACTGTCTAGTAAAATGCCCTCTAGTTTTTCATTTTCCTCTTTTTATTGTCTTGCATTTTTAGTGTAAGTGACCCCAAATCTTTTATGGAGGGACCCTGGATAATGCGAATGCACAAAACAATTATCTGGGACTGGGGATTGCTTGCTGGGGGGATTTTTAATTCTCCAACTCTCTAATAGTTGTAGGGCTCTTCATGTTATCTATTTCATCTGGGCTGAGTTTTGCTAGTTAACTGGTAGTTGTTGGAGAACTGGTCCATTTCTTCTGAATTTTTAAAGTTATGAGCATAAAATTACTCATAGTATTCCCTTATTATCCTTCCAGTGGCTATAGGTTCTGTAGTAATATCCCATTTCATAGCTGATATTGGTGATTTATGTTGTGTCTTCTCTCTTTTAATTTCTGTCAATCTTCCCCAATTATTGGTGAATCAAACATTCGAAAGAATGGGGTTCAAGAGTAACCATAAACCACGGGCAAACCTGATTTTTTCCAGCATGTTCCATGATTTTTTCATAGACGATTTCATTCATGATCTGGAAACGCTTGATAGCTTTTTTCTCTGTGATACCCACATATGTCTGTTCCAGAGGCACTGGACGGAAGCTAGAAGTTCAACAGTTAGACAAATGAGGCTTTGGCAGAAAATACTGTGGGAATAAACAGTCTTTTTCACTGCCCCAAGAGCAATATTCCTCCTTTATGATTCACACCACATCAAAACCCAAAGGCCCTTCTAAAACCCAACCCAGTAGCACTCCTTGGAAAAGAGGAAAGAGAGCAGGATGGTCACCTTGGCAGAACTTTGCCCAGTCTTTCCTGATACCTGTTGTCAAAGTAAAAGAGACCCTTGGCAGGGTCAACACGTAGAAAGGTGGCTACATCTTCATAGTTGGGTAGGGTGGCACTGAGACCAATGAGTCGGACATCCTCTTGGGTCATCTCAATGTTTCGGATGGCCCTGGCCACTAAAGCTTCTAAGACAGGACCTCTGTCATCGTGGAGAAGATGA
TGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAGCAATCTGAAAAATTTTTTCCTGGGCCAACAACTTTTGCTGAGACCTTTGCCTCAAAACCCTCACCCCACGCACCTGGAAGTTGCCCGTCTTCTTGTCGTACTTGACCAGATTGTTCTTGTCCAGCATCAGGGCAGCTGTATGAACCAGATCTAGTCGGCGCTGGTCCAGCAGGGGATCTCCCTTGAGGTCATCATGAGAGATGCCATAGAGGGTTGGGGATCGCAGCATTCGGATATAGAGGTAGGCATAGCCCAGCCAGTTCACCGCATCCTACAAGACACAGCTCATGGTTCTTAGCATGGAGAAACTCTTGATGTCCAAATGACAGGCTCCCATGAATTGCTTAGAAATTAATTCCCAACTACAAGGATGCATATTACATCGTATTCTGAATGTTTTTAGCATTTCATTATTAAAAAGATCTAAGCGTCTTCTAAGATCTTGGTAACAAGGGGAACTATCTGCCAGACCCAAGATGTGGGTGCAGGGATGGAAGGCCTCGGACGCTGCTGGCCCGCAGCACAATAGGGACCGACCCACTCCTGGTGCCTTGGTGTCTGCGGGGAAAGCATGAAGCACAACAAGCAGTCCTCCCCTACCTTGGCATTCTGGACATTTCCTAGCACGATTTCTGCATTGAGCATGTCAGGAAGCTTTGAAACCATCTGGCTTTCAATAGGAAGTTGTTGATTGAGGAGGGACAGGTAGTACTGTAGCTCCCCATGAGATGTGATGAGTATGCCTTCACCCTTGGTGTCATACTGGGGTCTTCCGGCACGTCCCAGCATCTAGATCAGAGACAGCGAACCAAGAATGCTATGTCAAGAGAATGTCTGAATTTTGATGCAGGTATCTACATTACAGAACTAGACCTCTGATCTGCTAGCTTTCCAGCATCCCTGCATTTCAGGCAAGGATACTGATCCCTGCTGAGAATAAACTCAAAAGGCTCTGTACCTGCAGAATGTCCAGTGCTCCCAGTTCTGTCCAACGCCCCTTCTCTGGACTGTACACCTGGGTGCCTTTGATGATGACTGTATGTGCAGGGAGATTCACACCCCAAGCTAGAGTTGCTGTGGAAACTAAAACCTACAGAGGCAAAACAAGGTAATGAGGAGAACAGATGCCATCACCAGGGGTTAATATCCCTGGCTTCTCTAGGCAGTTGGCCTCAGAGCTTCTCTCAGGACTAGCCGGTAGGGCGCGTGGGGTCCCAGTACTTGTCAATGTGACACCAGAATAAAGAGGAAAGGTTTCCTTGGGTTCCTCATCTATTCAGTAATGAACATTTCAAGGTTCCAGAGGCACAAGTGCAGACTTGTATTAAACAACCTTAAAGTTACTAGAAAAGGTAAAACAGAGCCTATCCGGAAAGAGGGAACGACAAGGGCACGCGTGCCCCCATGAGACACTGTTTGGAGCTATCTGAAGTCACCAAAGTGCTTGCTTCACTATGCTTCTCAGACTATCCTAAACTCAAGCAAGGTGGGAAGAGTTGGGAGAGTAGCATAAGGTTCTATTTATTGTGTCCACCACAACCCTCTGACCTGGGCTAGCTGGGCCAGAAGCAATAAAGTACCAGGAGCAAACATGGCACAAACTTGACATTGCCCATCTTCTGAAGTATGTCCCACCTGCTCCTCCAAACGCTTTGCACCCCCTCACCTGAATATGTTTATCAGCAAAAAGATCCTCCACGAGTGTTCGGTCAACCCTGGTCATGCCTGTGTGATGAATAGCAAAGCCATAAGGCAGAAGATCCTTCAGCTCTAGGTTCTGTGGAACAAAGAACCGGGGATGAGGCGAGCCTTCCTGTAGGACTCATCCAAGGACTAAGGAAATCTCCTCCCATGAGACCCTGCCCCTTAACTATTATGTGGAATAGTAATAATCACATCCAGACAATCAACCTTAACCCATGGGAAACAACAATACCACAGTACAGTCCTAGAGGAGCTGTCTGGGGCCTGAGATGGACACAGCTGCCAGGTAGGAATGAGAGAACCCAGCTGGCCCCTCCTCACCTTGCACTGCTCAGCTTCTGTTCGCAGGACTTCTGTGGAGGCTGAGCCCTCCCTCAGAAACAGACCCAGAGTGTCCTTTTCTAGGCACATGTCCCGGATGGCCCTGGCTGTCTTTCCAGTCTCCTTCCGGGAGTGGACAAACACCAGCACCTAAGGAGAAGCCACAGTTTGCTACAGTCACGAGATACTCACAGCCCCAGGGCACCTGCAGCAGGAAGCAGAAGTTGCACCATCACCACCAGAAGCCAAGGTCCTGGAGAGGGGCAAGGGCAGGAATGTGTGCAGGCTCAGAGGAAGCCTAAACACGGCTGGAAAGACTTTTAAGGGAATGCACCCACCAAGTTCACAGTCCTGGAGCTGAGAAATTAAACCAACTTCAACATCCTATCTTGAACAGCAACTTTAAATAGACTACAACTACAAATTCGGGCCTCTCAACTCAGAATTTATGTTCAAGCACCTAACAAGAGTCAAAGCTGCATGAAAATGTGTCTGCAAAATAACAACTAAAACATTACACTACTTATAAAAGGATTTAGGAAATAAGTCTGAGACTAGTACACTGTTGTAGGGAATGAAGTCTTCCTAGTATTTAGTGCCAAGAAAAGATCTGTCTCTTCATATAAATTCATATGCTTCTTTTCATCAGACAAAAAGAAATACAAAACCAGTCACTTTTCCTTATTTTTTGTTAGTTAACATTGCTCAACTCGACTTTCAATTTAAAAATTCTATCACACTGTCTAGTAAAATGCCCTCTAGTTTTTCATTTTCCTCTTTTTATTGTCTTGCATTTTTAGTGTAAGTGACCCCAAATCTTTTATGGAGGGACCCTGGATAATGCGAATGCACAAAACAATTATCTGGGACTGGGGATTGCTTGCTGGGGGGATTTTTAATTCTCCAACTCTCTAATAGTTGTAGGGCTCTTCATGTTATCTATTTCATCTGGGCTGAGTTTTGCTAGTTAACTGGTAGTTGTTGGAGAACTGGTCCATTTCTTCTGAATTTTTAAAGTTATGAGCATAAAATTACTCATAGTATTCCCTTATTATCCTTCCAGTGGCTATAGGTTCTGTAGTAATATCCCATTTCATAGCTGATATTGGTGATTTATGTTGTGTCTTCTCTCTTTTAATTTCTGTCAATCTTCCCCAATTATTGGTGAATCAAACATTCGAAAGAATGGGGTTCAAGAGTAACCATAAACCACGGGCAAACCTGATTTTTTCCAGCATGTTCCATGATTTTTTCATAGACGATTTCATTCATGATCTGGAAACGCTTGATAGCTTTTTTCTCTGTGATACCCACATATGTCTGTTCCAGAGGCACTGGACGGAAGCTAGAAGTTCAACAGTTAGACAAATGAGGCTTTGGCAGAAAATACTGTGGGAATAAACAGTCTTTTTCACTGCCCCAAGAGCAATATTCCTCCTTTATGATTCACACCACATCAAAACCCAAAGGCCCTTCTAAAACCCAACCCAGTAGCACTCCTTGGAAAAGAGGAAAGAGAGCAGGATGGTCACCTTGGCAGAACTTTGCCCAGTCTTTCCTGATACCTGTTGTCAAAGTAAAAGAGACCCTTGGCAGGGTCAACACGTAGAAAGGTGGCTACATCTTCATAGTTGGGTAGGGTGGCACTGAGACCAATGAGTCGGACATCCTCTTGGGTCATCTCAATGTTTCGGATGGCCCTGGCCACTAAAGCTTCTAAGACAGGACCTCTGTCATCGTGGAGAAGATGA
Task1_train_3838
Here is a genetic alteration in SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Retinitis pigmentosa
GTGCAGACTTGTATTAAACAACCTTAAAGTTACTAGAAAAGGTAAAACAGAGCCTATCCGGAAAGAGGGAACGACAAGGGCACGCGTGCCCCCATGAGACACTGTTTGGAGCTATCTGAAGTCACCAAAGTGCTTGCTTCACTATGCTTCTCAGACTATCCTAAACTCAAGCAAGGTGGGAAGAGTTGGGAGAGTAGCATAAGGTTCTATTTATTGTGTCCACCACAACCCTCTGACCTGGGCTAGCTGGGCCAGAAGCAATAAAGTACCAGGAGCAAACATGGCACAAACTTGACATTGCCCATCTTCTGAAGTATGTCCCACCTGCTCCTCCAAACGCTTTGCACCCCCTCACCTGAATATGTTTATCAGCAAAAAGATCCTCCACGAGTGTTCGGTCAACCCTGGTCATGCCTGCGTGATGAATAGCAAAGCCATAAGGCAGAAGATCCTTCAGCTCTAGGTTCTGTGGAACAAAGAACCGGGGATGAGGCGAGCCTTCCTGTAGGACTCATCCAAGGACTAAGGAAATCTCCTCCCATGAGACCCTGCCCCTTAACTATTATGTGGAATAGTAATAATCACATCCAGACAATCAACCTTAACCCATGGGAAACAACAATACCACAGTACAGTCCTAGAGGAGCTGTCTGGGGCCTGAGATGGACACAGCTGCCAGGTAGGAATGAGAGAACCCAGCTGGCCCCTCCTCACCTTGCACTGCTCAGCTTCTGTTCGCAGGACTTCTGTGGAGGCTGAGCCCTCCCTCAGAAACAGACCCAGAGTGTCCTTTTCTAGGCACATGTCCCGGATGGCCCTGGCTGTCTTTCCAGTCTCCTTCCGGGAGTGGACAAACACCAGCACCTAAGGAGAAGCCACAGTTTGCTACAGTCACGAGATACTCACAGCCCCAGGGCACCTGCAGCAGGAAGCAGAAGTTGCACCATCACCACCAGAAGCCAAGGTCCTGGAGAGGGGCAAGGGCAGGAATGTGTGCAGGCTCAGAGGAAGCCTAAACACGGCTGGAAAGACTTTTAAGGGAATGCACCCACCAAGTTCACAGTCCTGGAGCTGAGAAATTAAACCAACTTCAACATCCTATCTTGAACAGCAACTTTAAATAGACTACAACTACAAATTCGGGCCTCTCAACTCAGAATTTATGTTCAAGCACCTAACAAGAGTCAAAGCTGCATGAAAATGTGTCTGCAAAATAACAACTAAAACATTACACTACTTATAAAAGGATTTAGGAAATAAGTCTGAGACTAGTACACTGTTGTAGGGAATGAAGTCTTCCTAGTATTTAGTGCCAAGAAAAGATCTGTCTCTTCATATAAATTCATATGCTTCTTTTCATCAGACAAAAAGAAATACAAAACCAGTCACTTTTCCTTATTTTTTGTTAGTTAACATTGCTCAACTCGACTTTCAATTTAAAAATTCTATCACACTGTCTAGTAAAATGCCCTCTAGTTTTTCATTTTCCTCTTTTTATTGTCTTGCATTTTTAGTGTAAGTGACCCCAAATCTTTTATGGAGGGACCCTGGATAATGCGAATGCACAAAACAATTATCTGGGACTGGGGATTGCTTGCTGGGGGGATTTTTAATTCTCCAACTCTCTAATAGTTGTAGGGCTCTTCATGTTATCTATTTCATCTGGGCTGAGTTTTGCTAGTTAACTGGTAGTTGTTGGAGAACTGGTCCATTTCTTCTGAATTTTTAAAGTTATGAGCATAAAATTACTCATAGTATTCCCTTATTATCCTTCCAGTGGCTATAGGTTCTGTAGTAATATCCCATTTCATAGCTGATATTGGTGATTTATGTTGTGTCTTCTCTCTTTTAATTTCTGTCAATCTTCCCCAATTATTGGTGAATCAAACATTCGAAAGAATGGGGTTCAAGAGTAACCATAAACCACGGGCAAACCTGATTTTTTCCAGCATGTTCCATGATTTTTTCATAGACGATTTCATTCATGATCTGGAAACGCTTGATAGCTTTTTTCTCTGTGATACCCACATATGTCTGTTCCAGAGGCACTGGACGGAAGCTAGAAGTTCAACAGTTAGACAAATGAGGCTTTGGCAGAAAATACTGTGGGAATAAACAGTCTTTTTCACTGCCCCAAGAGCAATATTCCTCCTTTATGATTCACACCACATCAAAACCCAAAGGCCCTTCTAAAACCCAACCCAGTAGCACTCCTTGGAAAAGAGGAAAGAGAGCAGGATGGTCACCTTGGCAGAACTTTGCCCAGTCTTTCCTGATACCTGTTGTCAAAGTAAAAGAGACCCTTGGCAGGGTCAACACGTAGAAAGGTGGCTACATCTTCATAGTTGGGTAGGGTGGCACTGAGACCAATGAGTCGGACATCCTCTTGGGTCATCTCAATGTTTCGGATGGCCCTGGCCACTAAAGCTTCTAAGACAGGACCTCTGTCATCGTGGAGAAGATGAATCTCATCCTACGGAATTGGAGGACAGAAATTACCTCTAGCACTAGAGATACATAGTCCCTTTTCCTGGAATTGTCCCATATTGTAGGCATATAACCTAATATGCCTAAGAAAAAAGACAAGGGATCCCAAGCCACAGATGCCCAAAGGATGGAGACAATATTTCCCATGAAATACTCCAGAAAGTAACAGACTCTGACCATGAGTTGCTTTGGTACAGTTCAGTAACATACTTTGTATAAAGAAATTCTGAAACTCAGATAAATGAGTTTAAACTTTACTTAAAGGTAAACTTCTTTATGAAAAAGGATATAAATATGATCTGATCAGAAGCTTCACCTCTGGCAGTTATAGTTCCCAAGAACAAAAGCTATCACACATCAAATGATGAGTTTGAATAGTCTAAAGCAGTGCATCTCAAATTTTATTAAGTATCCCAAAGCCAGGGGATGTTGTTAAAAAGGAGATTGTATTCAGCAGGTGTGGGGTGAGGCCACAAATCCTGCATTTCTAACAAGCTCCTATTCCATGCTGCTGCTGCTATGACCCCAACCATGGATCAGGCTTCAAGTAGCAAAGCTCTAAAGCAGGGACCAGAAATGTTTTTTTTAAAAAGTCAGATGCTCCATCTCAAAAAAAAAAAAAAAAAAAAGCCGGGGGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGTGCATCACCCAAGGCCAGGAGTTCGAGACCAGCCTGGCCATCAGATTGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCAACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGCTGTAGTGAGCTGAGATTGCATCATCGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTAAAAAAAAAAAGCCAGACAGTCAGTATTTCAGGCTTTGGCCCACGCAGCCCCTATTGCAAATACTCAGCTCTGCCATTGCAGCCAAAAGCAGCTGTAAACAATACATAAACAAATGGGTGTAACTATGTTCCAACAGAACAAAGCCAGTACCCACAGACTGCCAACCCCTGCTCCAGAACACTGAAAACCAACACGTGAAGTCTCCTTTCTTGCTTTTCCCAGACAACTTAAACTATACTCAGACTTAGTCACTAATCTCTGGAAGTTTCTGTGTATATGGAATACAATATCCTGCTTCCTCACTCATTCCCTCAGAGAATGGATTCTTTTACTTATAAAACCCTAAATGATGTTGGATATGATGGTTTTTTGTCTATCTGTTTACATTTGTTTCAAAATATTTCAGACATAGCTTCTTGGCCTTTTGGCTTAAGATCAAGTGTAGTAAAATATTTCAGACATAAAAAAATATATAAAGAATAACATGGCAGGCTAGGCGCAGTGGCTCACGCTTGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGTAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCAGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAATTCCAGCTACAGGGGAGGCTGAGGCAGGAGAATTGCTTGAACT
GTGCAGACTTGTATTAAACAACCTTAAAGTTACTAGAAAAGGTAAAACAGAGCCTATCCGGAAAGAGGGAACGACAAGGGCACGCGTGCCCCCATGAGACACTGTTTGGAGCTATCTGAAGTCACCAAAGTGCTTGCTTCACTATGCTTCTCAGACTATCCTAAACTCAAGCAAGGTGGGAAGAGTTGGGAGAGTAGCATAAGGTTCTATTTATTGTGTCCACCACAACCCTCTGACCTGGGCTAGCTGGGCCAGAAGCAATAAAGTACCAGGAGCAAACATGGCACAAACTTGACATTGCCCATCTTCTGAAGTATGTCCCACCTGCTCCTCCAAACGCTTTGCACCCCCTCACCTGAATATGTTTATCAGCAAAAAGATCCTCCACGAGTGTTCGGTCAACCCTGGTCATGCCTGCGTGATGAATAGCAAAGCCATAAGGCAGAAGATCCTTCAGCTCTAGGTTCTGTGGAACAAAGAACCGGGGATGAGGCGAGCCTTCCTGTAGGACTCATCCAAGGACTAAGGAAATCTCCTCCCATGAGACCCTGCCCCTTAACTATTATGTGGAATAGTAATAATCACATCCAGACAATCAACCTTAACCCATGGGAAACAACAATACCACAGTACAGTCCTAGAGGAGCTGTCTGGGGCCTGAGATGGACACAGCTGCCAGGTAGGAATGAGAGAACCCAGCTGGCCCCTCCTCACCTTGCACTGCTCAGCTTCTGTTCGCAGGACTTCTGTGGAGGCTGAGCCCTCCCTCAGAAACAGACCCAGAGTGTCCTTTTCTAGGCACATGTCCCGGATGGCCCTGGCTGTCTTTCCAGTCTCCTTCCGGGAGTGGACAAACACCAGCACCTAAGGAGAAGCCACAGTTTGCTACAGTCACGAGATACTCACAGCCCCAGGGCACCTGCAGCAGGAAGCAGAAGTTGCACCATCACCACCAGAAGCCAAGGTCCTGGAGAGGGGCAAGGGCAGGAATGTGTGCAGGCTCAGAGGAAGCCTAAACACGGCTGGAAAGACTTTTAAGGGAATGCACCCACCAAGTTCACAGTCCTGGAGCTGAGAAATTAAACCAACTTCAACATCCTATCTTGAACAGCAACTTTAAATAGACTACAACTACAAATTCGGGCCTCTCAACTCAGAATTTATGTTCAAGCACCTAACAAGAGTCAAAGCTGCATGAAAATGTGTCTGCAAAATAACAACTAAAACATTACACTACTTATAAAAGGATTTAGGAAATAAGTCTGAGACTAGTACACTGTTGTAGGGAATGAAGTCTTCCTAGTATTTAGTGCCAAGAAAAGATCTGTCTCTTCATATAAATTCATATGCTTCTTTTCATCAGACAAAAAGAAATACAAAACCAGTCACTTTTCCTTATTTTTTGTTAGTTAACATTGCTCAACTCGACTTTCAATTTAAAAATTCTATCACACTGTCTAGTAAAATGCCCTCTAGTTTTTCATTTTCCTCTTTTTATTGTCTTGCATTTTTAGTGTAAGTGACCCCAAATCTTTTATGGAGGGACCCTGGATAATGCGAATGCACAAAACAATTATCTGGGACTGGGGATTGCTTGCTGGGGGGATTTTTAATTCTCCAACTCTCTAATAGTTGTAGGGCTCTTCATGTTATCTATTTCATCTGGGCTGAGTTTTGCTAGTTAACTGGTAGTTGTTGGAGAACTGGTCCATTTCTTCTGAATTTTTAAAGTTATGAGCATAAAATTACTCATAGTATTCCCTTATTATCCTTCCAGTGGCTATAGGTTCTGTAGTAATATCCCATTTCATAGCTGATATTGGTGATTTATGTTGTGTCTTCTCTCTTTTAATTTCTGTCAATCTTCCCCAATTATTGGTGAATCAAACATTCGAAAGAATGGGGTTCAAGAGTAACCATAAACCACGGGCAAACCTGATTTTTTCCAGCATGTTCCATGATTTTTTCATAGACGATTTCATTCATGATCTGGAAACGCTTGATAGCTTTTTTCTCTGTGATACCCACATATGTCTGTTCCAGAGGCAATGGACGGAAGCTAGAAGTTCAACAGTTAGACAAATGAGGCTTTGGCAGAAAATACTGTGGGAATAAACAGTCTTTTTCACTGCCCCAAGAGCAATATTCCTCCTTTATGATTCACACCACATCAAAACCCAAAGGCCCTTCTAAAACCCAACCCAGTAGCACTCCTTGGAAAAGAGGAAAGAGAGCAGGATGGTCACCTTGGCAGAACTTTGCCCAGTCTTTCCTGATACCTGTTGTCAAAGTAAAAGAGACCCTTGGCAGGGTCAACACGTAGAAAGGTGGCTACATCTTCATAGTTGGGTAGGGTGGCACTGAGACCAATGAGTCGGACATCCTCTTGGGTCATCTCAATGTTTCGGATGGCCCTGGCCACTAAAGCTTCTAAGACAGGACCTCTGTCATCGTGGAGAAGATGAATCTCATCCTACGGAATTGGAGGACAGAAATTACCTCTAGCACTAGAGATACATAGTCCCTTTTCCTGGAATTGTCCCATATTGTAGGCATATAACCTAATATGCCTAAGAAAAAAGACAAGGGATCCCAAGCCACAGATGCCCAAAGGATGGAGACAATATTTCCCATGAAATACTCCAGAAAGTAACAGACTCTGACCATGAGTTGCTTTGGTACAGTTCAGTAACATACTTTGTATAAAGAAATTCTGAAACTCAGATAAATGAGTTTAAACTTTACTTAAAGGTAAACTTCTTTATGAAAAAGGATATAAATATGATCTGATCAGAAGCTTCACCTCTGGCAGTTATAGTTCCCAAGAACAAAAGCTATCACACATCAAATGATGAGTTTGAATAGTCTAAAGCAGTGCATCTCAAATTTTATTAAGTATCCCAAAGCCAGGGGATGTTGTTAAAAAGGAGATTGTATTCAGCAGGTGTGGGGTGAGGCCACAAATCCTGCATTTCTAACAAGCTCCTATTCCATGCTGCTGCTGCTATGACCCCAACCATGGATCAGGCTTCAAGTAGCAAAGCTCTAAAGCAGGGACCAGAAATGTTTTTTTTAAAAAGTCAGATGCTCCATCTCAAAAAAAAAAAAAAAAAAAAGCCGGGGGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGTGCATCACCCAAGGCCAGGAGTTCGAGACCAGCCTGGCCATCAGATTGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCAACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGCTGTAGTGAGCTGAGATTGCATCATCGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTAAAAAAAAAAAGCCAGACAGTCAGTATTTCAGGCTTTGGCCCACGCAGCCCCTATTGCAAATACTCAGCTCTGCCATTGCAGCCAAAAGCAGCTGTAAACAATACATAAACAAATGGGTGTAACTATGTTCCAACAGAACAAAGCCAGTACCCACAGACTGCCAACCCCTGCTCCAGAACACTGAAAACCAACACGTGAAGTCTCCTTTCTTGCTTTTCCCAGACAACTTAAACTATACTCAGACTTAGTCACTAATCTCTGGAAGTTTCTGTGTATATGGAATACAATATCCTGCTTCCTCACTCATTCCCTCAGAGAATGGATTCTTTTACTTATAAAACCCTAAATGATGTTGGATATGATGGTTTTTTGTCTATCTGTTTACATTTGTTTCAAAATATTTCAGACATAGCTTCTTGGCCTTTTGGCTTAAGATCAAGTGTAGTAAAATATTTCAGACATAAAAAAATATATAAAGAATAACATGGCAGGCTAGGCGCAGTGGCTCACGCTTGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGTAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCAGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAATTCCAGCTACAGGGGAGGCTGAGGCAGGAGAATTGCTTGAACT
Task1_train_3839
This alteration occurs within gene NCAPH (non-SMC condensin I complex subunit H) located on Chromosome 2. Is it associated with a disease or is it a benign variant?
Pathogenic; Microcephaly 23, primary, autosomal recessive
CTGTCATAGAGGATTCAAACATGATTATGCTTCAGTTCTTTATACCAGGAGAATACAGGTAGATGAATGCAAGGAAGGTCAAGGCACATGCTATAGGAAACCAGAGTTGGTAGGGCTCAGAGTTTATGGAAGAAGCAAGACTTGAACTGGGCCATGAAGGAAGGCTAGGTGTCTTGTCAGGTAGGCATTGCCAGGGAGGTGATTCTAAGCAGAGGTGTAAAAGCAAAAGCCATAGCACAGGAAGGTTCTGATTAGGAAGCTGGAGAGTATACGAGTTTGGCTAGCGCCAAGGATTTGCTTTTAGAAATCACCTAAAGAGATCTTGAACTTTATCATTCAGTCTATTGTAAGGCCTTTTATTGTGGTCCTTCCTTACTGTGGACCCTTGTTTCAGAAGGTTTCATCTACTCAAACTACACAGTCAGCCATAATTCATTGTCCCATTGAATTGCTTGGGGATATAAATCCCTCTGTTGTCACACATGATATAATTCTAGACACAAGTGAGGAACATTATCATAGTGCTTTCAGCTTTAATGTGGGTCAGTGTACAATTTCCATGTTGGCTCTGAAGTGCTGAGTATAGTTCCGTTAACTACCTACACAAGACTTTTAGGGGTGCAGGGCTCCAGGTGGGAAACCATTACTCTGGATAGCATTTGAGAATGGAATAGGAGTAACCTATTTTTAGGTATTTTTAGGATGGGGAAAAAAAATAGGTATTTTTAGGATGGGAATTGGGAGAGGCCAGAGATAAGGGTCATATTGCTGGCTCTGGGGATGGAAAGATGCACTGGGAGGAAACCGACTTGGACGTGTGGCTGCCTGAGGGCTAAAGGGATGGGAGAATGTGGAGATGACGAATGTGCTGCTCTGGGACAAAGAATGGTGAGATGGGTTTATGGTACGGCAGGAGCTGAACCTCAGTTCTGATGAGCTTGGACTCCGAGCTAAGGGGACCAGGGAAGAGCCAGGGAGGCACATCTGTGTTGTCCTATCCAAGCCCCTCTCTCTCCATAGTAGCCACGTTCTGAGGCATCAGGAAGACCTGTGAACCCCATACCCAACCGTATCTCCTGTCTCAAGGTCACCTGCAGAGTCCCAGGGGGCTTCTAGCCTCTTGCTGCACATGTGTGTGATTCACCCTGTCCCTGTTCTTATGCCCAGTGCCTGTTTTTGCCTTTGGGCTTGGTGTCATATGGCCATGCCATTCCTGCTCCTGACCCAGCCTTAGGGACCTTCTTAAAACCTCTCTCAGGTTTCACCCAGCCAGCTAGCCCTACTGACTCTGTCCTTTGCCTGGATATCTTGGGTATGTTCTTCCAAACTTTAGAAGATATTTCTGTTCAGAGGAACAATAGAGCCCTGTGACTAGCCCTATCATACAGGCTTTTTAAGCCAATGGCATTTGTTAGTGACTTATAGAAGGAGACCAGCAGCAAGGATACACGTCCAGATGTATTATAAAAAAGCCATTTGACACAGTGTACACTTGCCACCACATACTGTCTTCTGGAGCAGTATATGTTTATCTCCTGACTATAACCAGCCTTTCTTTTGAACCGGGATTTTATCTGCTCAATTAGAAAGCCACTTTTGTTGGGTGCGGTGGTTCACAACTGTAGTCCCAGTACTTTGGGAGGCCAAGGTGGGTGGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCTAATATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGATGTAGTGGTGCGTACCTGTAGTCCCACTACTCTGGAGGCTGAGGCCCAAGAATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCATGCCACTGCACTCCAGCCTGGGCGGCAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAACAAAAACAAACCACTTTTGACCATGAGTGGAGATATTTCAGTCCAGTGTATATACCTGCTAATGAGTGGGGCCAAATGCATGAGAATTTATCTTTCCCTTGGCTACATGCCGTAAATCTTCAGTTTCTTCTCTCTCTGTGTTCAGATTGATCCCATGTTTCAGAAGACAGCAGCCTCATTTGATGAGTGCAGCACAGCAGGGGTGTTTCTGTCCACTCTCCACTGCCAGGACTACAGAAGTGAACTGCTGTTTCCCTCTGATGTCCAGACTCTCTCCACGGGAGAACCTCTCGAGTTGCCAGAGTTAGGTTGTGTAGAAATGACAGATTTAAAAGGTAAGTACAAGTGATGCCTTTCACCAGAGCATTTCAGTCATTGGGGAATTTTTTTACATAACCATGGGGTACAATAAGCCCATCATGCTCTTATGTTGCTTAAATTACCCAGAAGTTTCCTCTGGAATGCCAAATTGTGTATCCTTTTGGGAGTGCCTTGCAACCCACTAACTTTTGTCTTCTCTGCGGCGTGGAGTCTAAAACGGTAAACCATCGCCTCTTGGTCTTGATGTGCCCGGTACCTTAGGTGCCCACTGTTTGCAGTCAGCTCTCCAAGTCACATTTGGGAGACCTGGGTTCCTCCTGGAGTGTCAGTTTGTTCTTGGGAAGGGGACTTAGAGAGACCTTTGCCTAGCCAGAGAGGCTTTGTTTTTATTTGCTCCCCATCCAGGGGGCCCTGAGGAGAAGAGAGCGTTGTGAATTGTTTTGAGACTCCTCTGCAGCAGTCTAAGAACTGATCTCTCCTATTATCAGTCCCCTATACTGGCTTGACAGAGATTTTAGCATCCCTCCCATATACGCCTCCACGCCTGAGTTGGGGGTTCTCCTTGGGATGTTGTAATGAGGTGCCAGCAGGTAGGGAGGCCAGGTGCGTGCAGTGCAGTAGCTACACTTGGGGTCCCAGAAGAGCTGCCCCCTCCTGCACATTTCCAATGCAGTGTTCGTACTCTCGCTGATCTTCATCTCAAGTGCGGTCATTTTTATGTGTTGAATGAAATTAATACTTCCCCTCCAGGCTGGGCAGTTGTTAGCTCCCATTCTTGTCATTTCTATTCTTGCCTCAATTTTGTTTAGTATAGTTTTTGTGCTAACGATCTATTTTCCAAGTTTGTGCTCTCATTTGGGGCTCTAATCCCCTGAAGTAAGTCTTCTCTAGTTTGGGACTAAAAATAAGTTAAAGTACCATTACATGATTGCCTATGTACTTGGTGTATTTTTAAGACGAAGCGTTTGATTTCCCAGCTATAGCATAGGTCACAGAATTCATTTCAGAATCGAATGTCTGTGCTTTAGGTTTCTCCTCTAGTATTTTACTAATTTGTGCGATGACAGTGCATAGCCTCACTCCAGCGTGGGTGTGGCCGACGCATCTGCTCGCTCCCAGAAGAGGCAGGGACACAGACTGGCAGCTAGCCAGCCACTGATGATACTTGAGCCTTTGCTGGAGGACAGTGAGGTAACTGTGCCTCTCATCTCTCGTCCCACTCAGTATCATTCTGAAGGGAGTAAGGAATGCACTTGACCCCCTTCTAATCTCTCTTTGTGATCTTGCTATCCTCTCCAGCGCCCTTGCAGCAGTGTGCAGAAGATCGCCAGATCTGCCCTTCCCTGGCCGGGTTCCAGTTTACACAGTGGGACAGTGAAACACATAATGAGGTGTGGTCAAGTTTTAGTGGCTCATGGTTTCAGTTAGTTGGCTCAAGAGTGGTCCTGCCCAATGGGAACCAAAACTGTGGCATCATCTTTATTTAGCCAGGAGTACAGAAAATATTTCCTTTGGCACTTCTGTAGGGACAAAAACCCTGAGGGAGGAGGGTAGGGTTGTGAACCCCAGCAGGACTATTCTAGAGGTAAGTGAGTTCCAGGATCAGCTTTATGTCCTCTCTTCTGCTATCCTAGGGTAAGGCGGCCCTGGCATTAATCAGTGAACATTTATAATTAGATTTACTCTTGAATGTGGTTATCCCAGTGGCCTCGAATCTCTTAGGCTGCCGTCAAGCTTGAGGAATTTCCTGCTCTTTGGGGTTGAATCCCTTGGCACAGAGTTTCCTGAGAAATTGTCATGTGTAGAGCTTTCCTCTGTGTATTTTTAGCATGGCCCCCTTTAGCCTACTTACTACAATTTCCAAAATAAATGATCTCCA
CTGTCATAGAGGATTCAAACATGATTATGCTTCAGTTCTTTATACCAGGAGAATACAGGTAGATGAATGCAAGGAAGGTCAAGGCACATGCTATAGGAAACCAGAGTTGGTAGGGCTCAGAGTTTATGGAAGAAGCAAGACTTGAACTGGGCCATGAAGGAAGGCTAGGTGTCTTGTCAGGTAGGCATTGCCAGGGAGGTGATTCTAAGCAGAGGTGTAAAAGCAAAAGCCATAGCACAGGAAGGTTCTGATTAGGAAGCTGGAGAGTATACGAGTTTGGCTAGCGCCAAGGATTTGCTTTTAGAAATCACCTAAAGAGATCTTGAACTTTATCATTCAGTCTATTGTAAGGCCTTTTATTGTGGTCCTTCCTTACTGTGGACCCTTGTTTCAGAAGGTTTCATCTACTCAAACTACACAGTCAGCCATAATTCATTGTCCCATTGAATTGCTTGGGGATATAAATCCCTCTGTTGTCACACATGATATAATTCTAGACACAAGTGAGGAACATTATCATAGTGCTTTCAGCTTTAATGTGGGTCAGTGTACAATTTCCATGTTGGCTCTGAAGTGCTGAGTATAGTTCCGTTAACTACCTACACAAGACTTTTAGGGGTGCAGGGCTCCAGGTGGGAAACCATTACTCTGGATAGCATTTGAGAATGGAATAGGAGTAACCTATTTTTAGGTATTTTTAGGATGGGGAAAAAAAATAGGTATTTTTAGGATGGGAATTGGGAGAGGCCAGAGATAAGGGTCATATTGCTGGCTCTGGGGATGGAAAGATGCACTGGGAGGAAACCGACTTGGACGTGTGGCTGCCTGAGGGCTAAAGGGATGGGAGAATGTGGAGATGACGAATGTGCTGCTCTGGGACAAAGAATGGTGAGATGGGTTTATGGTACGGCAGGAGCTGAACCTCAGTTCTGATGAGCTTGGACTCCGAGCTAAGGGGACCAGGGAAGAGCCAGGGAGGCACATCTGTGTTGTCCTATCCAAGCCCCTCTCTCTCCATAGTAGCCACGTTCTGAGGCATCAGGAAGACCTGTGAACCCCATACCCAACCGTATCTCCTGTCTCAAGGTCACCTGCAGAGTCCCAGGGGGCTTCTAGCCTCTTGCTGCACATGTGTGTGATTCACCCTGTCCCTGTTCTTATGCCCAGTGCCTGTTTTTGCCTTTGGGCTTGGTGTCATATGGCCATGCCATTCCTGCTCCTGACCCAGCCTTAGGGACCTTCTTAAAACCTCTCTCAGGTTTCACCCAGCCAGCTAGCCCTACTGACTCTGTCCTTTGCCTGGATATCTTGGGTATGTTCTTCCAAACTTTAGAAGATATTTCTGTTCAGAGGAACAATAGAGCCCTGTGACTAGCCCTATCATACAGGCTTTTTAAGCCAATGGCATTTGTTAGTGACTTATAGAAGGAGACCAGCAGCAAGGATACACGTCCAGATGTATTATAAAAAAGCCATTTGACACAGTGTACACTTGCCACCACATACTGTCTTCTGGAGCAGTATATGTTTATCTCCTGACTATAACCAGCCTTTCTTTTGAACCGGGATTTTATCTGCTCAATTAGAAAGCCACTTTTGTTGGGTGCGGTGGTTCACAACTGTAGTCCCAGTACTTTGGGAGGCCAAGGTGGGTGGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCTAATATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGATGTAGTGGTGCGTACCTGTAGTCCCACTACTCTGGAGGCTGAGGCCCAAGAATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCATGCCACTGCACTCCAGCCTGGGCGGCAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAACAAAAACAAACCACTTTTGACCATGAGTGGAGATATTTCAGTCCAGTGTATATACCTGCTAATGAGTGGGGCCAAATGCATGAGAATTTATCTTTCCCTTGGCTACATGCCGTAAATCTTCAGTTTCTTCTCTCTCTGTGTTCAGATTGATCTCATGTTTCAGAAGACAGCAGCCTCATTTGATGAGTGCAGCACAGCAGGGGTGTTTCTGTCCACTCTCCACTGCCAGGACTACAGAAGTGAACTGCTGTTTCCCTCTGATGTCCAGACTCTCTCCACGGGAGAACCTCTCGAGTTGCCAGAGTTAGGTTGTGTAGAAATGACAGATTTAAAAGGTAAGTACAAGTGATGCCTTTCACCAGAGCATTTCAGTCATTGGGGAATTTTTTTACATAACCATGGGGTACAATAAGCCCATCATGCTCTTATGTTGCTTAAATTACCCAGAAGTTTCCTCTGGAATGCCAAATTGTGTATCCTTTTGGGAGTGCCTTGCAACCCACTAACTTTTGTCTTCTCTGCGGCGTGGAGTCTAAAACGGTAAACCATCGCCTCTTGGTCTTGATGTGCCCGGTACCTTAGGTGCCCACTGTTTGCAGTCAGCTCTCCAAGTCACATTTGGGAGACCTGGGTTCCTCCTGGAGTGTCAGTTTGTTCTTGGGAAGGGGACTTAGAGAGACCTTTGCCTAGCCAGAGAGGCTTTGTTTTTATTTGCTCCCCATCCAGGGGGCCCTGAGGAGAAGAGAGCGTTGTGAATTGTTTTGAGACTCCTCTGCAGCAGTCTAAGAACTGATCTCTCCTATTATCAGTCCCCTATACTGGCTTGACAGAGATTTTAGCATCCCTCCCATATACGCCTCCACGCCTGAGTTGGGGGTTCTCCTTGGGATGTTGTAATGAGGTGCCAGCAGGTAGGGAGGCCAGGTGCGTGCAGTGCAGTAGCTACACTTGGGGTCCCAGAAGAGCTGCCCCCTCCTGCACATTTCCAATGCAGTGTTCGTACTCTCGCTGATCTTCATCTCAAGTGCGGTCATTTTTATGTGTTGAATGAAATTAATACTTCCCCTCCAGGCTGGGCAGTTGTTAGCTCCCATTCTTGTCATTTCTATTCTTGCCTCAATTTTGTTTAGTATAGTTTTTGTGCTAACGATCTATTTTCCAAGTTTGTGCTCTCATTTGGGGCTCTAATCCCCTGAAGTAAGTCTTCTCTAGTTTGGGACTAAAAATAAGTTAAAGTACCATTACATGATTGCCTATGTACTTGGTGTATTTTTAAGACGAAGCGTTTGATTTCCCAGCTATAGCATAGGTCACAGAATTCATTTCAGAATCGAATGTCTGTGCTTTAGGTTTCTCCTCTAGTATTTTACTAATTTGTGCGATGACAGTGCATAGCCTCACTCCAGCGTGGGTGTGGCCGACGCATCTGCTCGCTCCCAGAAGAGGCAGGGACACAGACTGGCAGCTAGCCAGCCACTGATGATACTTGAGCCTTTGCTGGAGGACAGTGAGGTAACTGTGCCTCTCATCTCTCGTCCCACTCAGTATCATTCTGAAGGGAGTAAGGAATGCACTTGACCCCCTTCTAATCTCTCTTTGTGATCTTGCTATCCTCTCCAGCGCCCTTGCAGCAGTGTGCAGAAGATCGCCAGATCTGCCCTTCCCTGGCCGGGTTCCAGTTTACACAGTGGGACAGTGAAACACATAATGAGGTGTGGTCAAGTTTTAGTGGCTCATGGTTTCAGTTAGTTGGCTCAAGAGTGGTCCTGCCCAATGGGAACCAAAACTGTGGCATCATCTTTATTTAGCCAGGAGTACAGAAAATATTTCCTTTGGCACTTCTGTAGGGACAAAAACCCTGAGGGAGGAGGGTAGGGTTGTGAACCCCAGCAGGACTATTCTAGAGGTAAGTGAGTTCCAGGATCAGCTTTATGTCCTCTCTTCTGCTATCCTAGGGTAAGGCGGCCCTGGCATTAATCAGTGAACATTTATAATTAGATTTACTCTTGAATGTGGTTATCCCAGTGGCCTCGAATCTCTTAGGCTGCCGTCAAGCTTGAGGAATTTCCTGCTCTTTGGGGTTGAATCCCTTGGCACAGAGTTTCCTGAGAAATTGTCATGTGTAGAGCTTTCCTCTGTGTATTTTTAGCATGGCCCCCTTTAGCCTACTTACTACAATTTCCAAAATAAATGATCTCCA
Task1_train_3840
This variant impacts the gene LMAN2L (lectin, mannose binding 2 like) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Pathogenic; Intellectual disability, autosomal recessive 52
ATCCACAGAAGATAGAATACCAGGGGGATAGACAGTAAAATTAAATCAGTATGCCACTGCTGAACTTTTTAGGCCTTTCTGGGTCACCAACACAGGAGGGAGAAAGATTCTTACCACCCGGTTCCACAAGGCACCCTGTTTACTTTGCATATCTGGGGTAAGGCGGATATACTGGGTCATCACCATGGCATTGCCCATCAGATTCCACAGTGAGGAACTGCCTGTGCCCACACCTACAGGAAGGAAGTAGATCAGTTCATACTTTTCAACACCAATCCATTCAGAAAGCAGCCACCACAGAGCCTCTGAAAGCTGAGCCATCATCTTTTTCCCCCTTTAATGTCACTCAATCTCCTATCTTCTCTCAGTCATGAATCTTACCATCTCTACAGCTTTCACAAGGCCTTTATCAGGTAAGGACCCCAAAGCACATCAGAACTCTCACTTTATGCATGTTACAGTAACCATAGCTCACATCCATTCTTCCCGTTTTATATGTGAGTAAACTTCAGCATCGTAAAAGAAAAAAATTTTCCTGAGTTATATCAAAAAGAGTTTGACAGGCCAGGTGCAGTGGCTCACCCATGTAATCCCCACACTTTGAGATGATGTGGAGGGAGGGCATCTTGAGGTCAGCAATTTGAGACCAGCCTGGGCAACATAGAAAGACCCTGTCTTTACCAAAAAAAAAATTAGCCAGGTGTGGTAGTCCTTGTCCATAGTCCTAGCTACTCAGGAGGCTGAGTTGGGAGCATCGCTTGAGCCCAGGAGATTGAAACTGCATGAGCCATGATTGTGCCACTGCACTCCAGCCTAGGCAACGGAACAAGACCTTGTCTCTAAAAATATATAAATATAAATAAAAAGAGTTTGACCCTCAGGCCTCCGGGGCTTAGTCACATTCTTCCTTTTTTTTTTTTCTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGACCTCGGCTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTTGTATTTTCAGCAGAGATGGGGTTTCACCGTGTTAGCTAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCGGAGATTACAGGCGTGAGCCACCGCCCCAGCCGTCACATTCTTTCTTTAAACAATCCTTAAAGTGTGAAGCTACTCCCTGTACCCTCACCTATAAACTTCTTTAAGAATGAAAACTTTGTGTCTGCAAACCCATAAGCATTAGCAAAGAGACAGCACAGAGGCACTCCAGGCATGTAAGTGAATAAATGATTACCCTTAGTAGTAGAGTATACTCTTGCACTTTGAATTGTTTTCTGTCCCACTACCTACGCCTTAGTGGGGAAAGACTTGTGTTAGTTAAGCCATCTGCACTGGTTTGTCATCGTTTTGTGGCTAACTGCATTAATTTTCTGGCTGATAAGCTGTGCTTAGAGTTCTGTGAACCCTAACCTCTTTCACCAACAGGGCCCCTAGGCTGGAGAAGAGAAGGTGGTTCTACCCAGCAACATAAATTTATCATCTTCTCATTTCGTTCAAGTTCTACCCCAGTTCTTCCTCCTGCTTTATTTCTAGCACATCCACAGGTCCATCTGGAGACTGGCTCATTGCTAGTAGCCCTCAATCACTCCTCACCATTCTCAATTCTCTCCCCTTCCCAAACTCCTCCTGTCTAACTCCAGGCCTAGTACTAGTGGCACCCGACAGCCCTGCCTTTACCTACTGGAAACTTCCAGAGCTTGGCAGGCACACCTAACTCCTGCCTTTCAGACCTGTGGCTCCCAAACGCGGAGGGAGTCTCCGTGGGCCCCACCACCGCCAGCAGTTTCCTCCGGGCCACGAAGCCCTTCGCCGCCCCCGCCTCTACCCCTGAAATCAAGTCCCGAAGCCCGCCCCACTGCACGACCACCTCACCCTGGGCGCCTCACCCTGGTAGGGCTTCGACAGCGAGTGCTCCCGTTTCAAGTACTCGAACGTTTGACCCGCCCCGACTTGCTGTGGCCCCTGCCCAGACCCCAACAAAAGAAGAAGGAGTAACATCCTGGACCCATCCCGAGCCGACAAACATCGCCGCCACTGCTGCCACGACCCAAGGGGTCCCAGAGTCGCCGCCATCTTTCCCACCAACGACCCTTCATCAAAAGCCCGCCCCGTCGCCCAACCCATTGGCCCGAAGAGCCATCTGCCCTGCGTCCTATTGGCTTTCGTCAAGCCCCCGCCCCTGCAGGTGACTATATCACCGATTGGCTGGCTTCTGTATCAGTTGCCTTGCCAACCCAGAAAAGGGGCGTAGCCGAATGCCCAGCCCCCCCCCTTATTTGCATTTGCCCTGAGTTCCACTAGGCTTGCTGGGATACGTAGTTTATTTGTATTTTGTTTTCTGCGTACGAGAGTAAATTTAAAGAGATAAAACGTTTCTTCTGGTCCCAAACATTCTATCCTCTCTGCAATAGTACGCTCCTGACTGCAGCTCTCTGAATCAATTTGGAAGATATAGCAGTGAAAGGAGAAATAGACAAATCCGTAAAATAGCTGGAAAACTATCAATTTATAAAAGACTTGAACAGCACTACCAACTAACTTGACCTGATGATATTTATAGAAACTCCACCTAACAACTGCGGAAGACACATTCTCTTCAAATGCAAATGACTCCTTTGCCGTGATAGTCTGGGCCATCAAGCAACCTACAGATATAAAAGAACTGAAAGCACACAAATTAATTAATTCTAAAAGCCATCACCTCCTTTCCTCCCTTCCTCTTTTTTTTCTTTTTGGTTTGAGACGAGGTCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAAGGTGGAGAAACCCCGTCTCTATTAAAAATAAAAAAAAAAATTAGCCAGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGACCAAGCCATTGCACTCCAGCCTGGGCCACATAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAGAGAGACAAGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCCAGCCTCTCCCTCCCTGGCTGAAGTGATCCTGCCACCTTAGCCTCCTGAGTTACTGGGACTACAGGCACATCCCTTCGTCTTTATCCGGCACCACAACATGTGTCCAGACTGGTCTCCACGTAGCCACTAAAGTGATCCAAACTATCTAACCATGGTAAGTGTCAGGGTTAAATGAGTCAATATTGGTAAACCTCTTAGAACAGTGCCTTGCGTGTAGTAAGCACTATTTCTTTCTTTTTTCTTTTCTTTTTTTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGACCACAGCCTCAACCTCCTGGACTCAAGGGATCTTCCCACTTCAGCCTCTCAAGTAGCTGGGACTACAGGTGTGTGCCACCTCACCTTGCTAATTTTTATTTTTTGTAGCTATGGGGTTGTGGGGGAGGTCTCACTAAGTTGCCCAGATTTGTCTCATACTTCTAGACTTCAGTGATCCTCTCTCCTCAGCCTCCCAAAGTGCTGGGATTAGAGGTGTAAGCCACCGCACCAAGCCATAAGCGCTATTTCATCATCATCATTCTTATTAACCGGGCCTTTGATGGCTCACCATCACCTGTGGGGAGGAGATTCAAGCCCCTCAATTTGGCACACAAAGCCCCCTGCCATCTGGCCCTGGCCTTATTGCCCATGACTCTTTTCCTCCATCTTTATGCTCCAGCTTCCCTTCCCTCTTTTTTTTTTCTGCAGTCCACTTCCTTCTGGAGGTCCTTCTCAAACCTCTCAGGCAGGGTAGATTCTCCTGTCTGAGCTCTCAAAGTGTTCCATGCACATCTCATAT
ATCCACAGAAGATAGAATACCAGGGGGATAGACAGTAAAATTAAATCAGTATGCCACTGCTGAACTTTTTAGGCCTTTCTGGGTCACCAACACAGGAGGGAGAAAGATTCTTACCACCCGGTTCCACAAGGCACCCTGTTTACTTTGCATATCTGGGGTAAGGCGGATATACTGGGTCATCACCATGGCATTGCCCATCAGATTCCACAGTGAGGAACTGCCTGTGCCCACACCTACAGGAAGGAAGTAGATCAGTTCATACTTTTCAACACCAATCCATTCAGAAAGCAGCCACCACAGAGCCTCTGAAAGCTGAGCCATCATCTTTTTCCCCCTTTAATGTCACTCAATCTCCTATCTTCTCTCAGTCATGAATCTTACCATCTCTACAGCTTTCACAAGGCCTTTATCAGGTAAGGACCCCAAAGCACATCAGAACTCTCACTTTATGCATGTTACAGTAACCATAGCTCACATCCATTCTTCCCGTTTTATATGTGAGTAAACTTCAGCATCGTAAAAGAAAAAAATTTTCCTGAGTTATATCAAAAAGAGTTTGACAGGCCAGGTGCAGTGGCTCACCCATGTAATCCCCACACTTTGAGATGATGTGGAGGGAGGGCATCTTGAGGTCAGCAATTTGAGACCAGCCTGGGCAACATAGAAAGACCCTGTCTTTACCAAAAAAAAAATTAGCCAGGTGTGGTAGTCCTTGTCCATAGTCCTAGCTACTCAGGAGGCTGAGTTGGGAGCATCGCTTGAGCCCAGGAGATTGAAACTGCATGAGCCATGATTGTGCCACTGCACTCCAGCCTAGGCAACGGAACAAGACCTTGTCTCTAAAAATATATAAATATAAATAAAAAGAGTTTGACCCTCAGGCCTCCGGGGCTTAGTCACATTCTTCCTTTTTTTTTTTTCTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGACCTCGGCTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTTGTATTTTCAGCAGAGATGGGGTTTCACCGTGTTAGCTAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCGGAGATTACAGGCGTGAGCCACCGCCCCAGCCGTCACATTCTTTCTTTAAACAATCCTTAAAGTGTGAAGCTACTCCCTGTACCCTCACCTATAAACTTCTTTAAGAATGAAAACTTTGTGTCTGCAAACCCATAAGCATTAGCAAAGAGACAGCACAGAGGCACTCCAGGCATGTAAGTGAATAAATGATTACCCTTAGTAGTAGAGTATACTCTTGCACTTTGAATTGTTTTCTGTCCCACTACCTACGCCTTAGTGGGGAAAGACTTGTGTTAGTTAAGCCATCTGCACTGGTTTGTCATCGTTTTGTGGCTAACTGCATTAATTTTCTGGCTGATAAGCTGTGCTTAGAGTTCTGTGAACCCTAACCTCTTTCACCAACAGGGCCCCTAGGCTGGAGAAGAGAAGGTGGTTCTACCCAGCAACATAAATTTATCATCTTCTCATTTCGTTCAAGTTCTACCCCAGTTCTTCCTCCTGCTTTATTTCTAGCACATCCACAGGTCCATCTGGAGACTGGCTCATTGCTAGTAGCCCTCAATCACTCCTCACCATTCTCAATTCTCTCCCCTTCCCAAACTCCTCCTGTCTAACTCCAGGCCTAGTACTAGTGGCACCCGACAGCCCTGCCTTTACCTACTGGAAACTTCCAGAGCTTGGCAGGCACACCTAACTCCTGCCTTTCAGACCTGTGGCTCCCAAACGCGGAGGGAGTCTCCGTGGGCCCCACCACCGCCAGCAGTTTCCTCCGGGCCACGAAGCCCTTCGCCGCCCCCGCCTCTACCCCTGAAATCAAGTCCCGAAGCCCGCCCCACTGCACGACCACCTCACCCTGGGCGCCTCACCCTGGTAGGGCTTCGACAGCGAGTGCTCCTGTTTCAAGTACTCGAACGTTTGACCCGCCCCGACTTGCTGTGGCCCCTGCCCAGACCCCAACAAAAGAAGAAGGAGTAACATCCTGGACCCATCCCGAGCCGACAAACATCGCCGCCACTGCTGCCACGACCCAAGGGGTCCCAGAGTCGCCGCCATCTTTCCCACCAACGACCCTTCATCAAAAGCCCGCCCCGTCGCCCAACCCATTGGCCCGAAGAGCCATCTGCCCTGCGTCCTATTGGCTTTCGTCAAGCCCCCGCCCCTGCAGGTGACTATATCACCGATTGGCTGGCTTCTGTATCAGTTGCCTTGCCAACCCAGAAAAGGGGCGTAGCCGAATGCCCAGCCCCCCCCCTTATTTGCATTTGCCCTGAGTTCCACTAGGCTTGCTGGGATACGTAGTTTATTTGTATTTTGTTTTCTGCGTACGAGAGTAAATTTAAAGAGATAAAACGTTTCTTCTGGTCCCAAACATTCTATCCTCTCTGCAATAGTACGCTCCTGACTGCAGCTCTCTGAATCAATTTGGAAGATATAGCAGTGAAAGGAGAAATAGACAAATCCGTAAAATAGCTGGAAAACTATCAATTTATAAAAGACTTGAACAGCACTACCAACTAACTTGACCTGATGATATTTATAGAAACTCCACCTAACAACTGCGGAAGACACATTCTCTTCAAATGCAAATGACTCCTTTGCCGTGATAGTCTGGGCCATCAAGCAACCTACAGATATAAAAGAACTGAAAGCACACAAATTAATTAATTCTAAAAGCCATCACCTCCTTTCCTCCCTTCCTCTTTTTTTTCTTTTTGGTTTGAGACGAGGTCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAAGGTGGAGAAACCCCGTCTCTATTAAAAATAAAAAAAAAAATTAGCCAGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGACCAAGCCATTGCACTCCAGCCTGGGCCACATAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAGAGAGACAAGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCCAGCCTCTCCCTCCCTGGCTGAAGTGATCCTGCCACCTTAGCCTCCTGAGTTACTGGGACTACAGGCACATCCCTTCGTCTTTATCCGGCACCACAACATGTGTCCAGACTGGTCTCCACGTAGCCACTAAAGTGATCCAAACTATCTAACCATGGTAAGTGTCAGGGTTAAATGAGTCAATATTGGTAAACCTCTTAGAACAGTGCCTTGCGTGTAGTAAGCACTATTTCTTTCTTTTTTCTTTTCTTTTTTTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGAGACAGGGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGACCACAGCCTCAACCTCCTGGACTCAAGGGATCTTCCCACTTCAGCCTCTCAAGTAGCTGGGACTACAGGTGTGTGCCACCTCACCTTGCTAATTTTTATTTTTTGTAGCTATGGGGTTGTGGGGGAGGTCTCACTAAGTTGCCCAGATTTGTCTCATACTTCTAGACTTCAGTGATCCTCTCTCCTCAGCCTCCCAAAGTGCTGGGATTAGAGGTGTAAGCCACCGCACCAAGCCATAAGCGCTATTTCATCATCATCATTCTTATTAACCGGGCCTTTGATGGCTCACCATCACCTGTGGGGAGGAGATTCAAGCCCCTCAATTTGGCACACAAAGCCCCCTGCCATCTGGCCCTGGCCTTATTGCCCATGACTCTTTTCCTCCATCTTTATGCTCCAGCTTCCCTTCCCTCTTTTTTTTTTCTGCAGTCCACTTCCTTCTGGAGGTCCTTCTCAAACCTCTCAGGCAGGGTAGATTCTCCTGTCTGAGCTCTCAAAGTGTTCCATGCACATCTCATAT
Task1_train_3841
This variant impacts the gene CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Pathogenic; Jalili syndrome
GAGTAAAGTGGGTTCTGTGTCTTCAGTACTGGCAAAAGATTTGCTGTGAGACCTGGTGGTCAACCCAGTACCTGATCTTCTCTGTGCACCTGTGCAATTATTGTAAGGATGTTTATCTGTCTGTCTTCTTCCCCCTCACAGGGCGGGCAGCTGTGGTCTTCCTTATACACCCTACTGACACAGGGCTAGGGCCATTCAGGAAGCAGTCATTTCAGGGATAGGCCCACTGCCGCGCCTGCCTGCTCATGTCCACAAGCAGCTGCCCAGCTGATCAATCACCACAATTTGGGGTTAGGAGTTTGGTCCTGGAAGGCAGGTAGCAACAACTACTACCTAGCCAAAGAATATTCTAAAGAGCTGTCCTGTCATGTTCAATGTCTAGGTCCACAATCCCGCAAGCTTAGCGAAGTAATGCTCTGTCATTCTTACCCCCATTTACAGATGGAGAAATGGGCTGGGAGATGACAGTATGGAGGCACCAGGATTTTTGTCTCGGCTCAATTTCTGCATCTCTAAATGGAAATAATTCTACTAACTCTGAGGGTTGTTGGGGGGATTTAATGAATATATGTGTTTACTTGTTTATCTCCTGTTTTCTGTTCTAGACTGTAAACCCCAATGGGCAGCGACTTTGGCTTGTTCACTGCTCTATTGTCAGAGCCTAGAACAAGTGCCTGGTACAAAGTAGGTGTTCAATAAATATCTATGCCTAAATGGAAGAGACAGGAGAGAAGTCTAGGCCAGAGCCTGCCCCTTCTATAACCTTAGTTCCCCAGATTTGCCTTCCACATCAGGCAGCCACTGGTTGATGGAAGCATCGTCGGGCTGGGGCTGGGGCTGGGGTAACCTACTTCTGGCCTTAGGACAAGGTCGGCAAAAATCTCAGCAGTGAGGAGGCCAGAAAAGTCTCCAAGGGGCAGGCTGCAATGCCAGCCTAAGCCCTCAGGTTTCCTTTTTCTTTTTCTACATCAGGAAAAGCACTTTTCTCGCCCTGCCTGCAGAGCGGGCCACCCCTAGCTGCAGGTGAGGGACGGGAGAGGAGCCTCCCACGTGCGGCCGTGCGAGGCCGAGGAACAGGAACGGCGTAGCTAGGAGACCAGGTCCCGGAGAAGGAGAGCTGGCCCCACTGGCAGAGAAAGGCGGGGAAGGGCGCGGAGGCGGAGCACTGGGCGGGTACCCGCTGGCGGCTCTCGCGCGGCGGCGCTGCTCCACCTTAAGCGACTGTACCCCCTTAAGGGCGGGCGCTCAAGCAGCGAGCCCCGGGGGCGGGGCCTCCAATGCAAATGAGGGGCGTGGGCAGGCGGGGCGGGGCGGGCGGGGCGCTGACCTGACGTCAGGCTCGCGGCCCGGGCAGTTGGCTCGGCGGCAGCGGAGCGGCCGGAGCTGCGGTGCGGACCGGGGCCGCGCGGCGTGGCGCGGGGAGCGGCGGCGGCGGCAGAGCCAGAGCAACATGGCGCCGGTGGGCGGGGGCGGGCGCCCGGTCGGCGGACCGGCCCGCGGGCGCCTCCTCCTGGCGGCGCCGGTGCTGCTGGTGCTGCTGTGGGCGCTGGGGGCCCGGGGCCAGGGCAGCCCCCAGCAGGGCACGATCGTGGGCATGAGGCTGGCGAGCTGCAACAAGTCGTGTGGGACGAACCCGGATGGCATCATCTTCGTGTCCGAGGGCAGCACCGTGAACCTGAGGCTGTACGGCTACAGCCTGGGCAACATCTCCAGCAACCTGATCTCCTTCACCGAGGTGGACGATGCCGAGACCCTCCACAAGTCCACCAGCTGCCTCGAGCTCACCAAGGACCTGGTCGTCCAGCAGCTGGTCAACGTGAGCCGCGGGAACACGTCCGGCGTGCTGGTGGTGCTCACCAAGTTCCTCCGGAGGAGCGAGAGCATGAAGCTGTATGCACTGTGCACCCGGGCCCAGCCCGACGGGCCCTGGCTGAAGTGGACGGACAAGGACTCACTGCTCTTCATGGTGGAGGAGCCTGGGAGGTTCCTGCCTCTCTGGCTGCACATTCTCCTAATTACGGTGCTGCTGGTGCTGTCGGGCATATTTTCTGGCCTCAACCTCGGGCTTATGGCCCTGGACCCCATGGAGCTGCGCATCGTGCAGAACTGTGGCACCGAGAAGGAGAGGCGCTATGCCCGCAAGATTGAGCCCATCCGGCGCAAGGGCAACTACCTTCTCTGCTCGTTGCTCCTAGGGAACGTGCTGGTCAACACCTCCCTCACAATCCTTCTAGACAACCTCATCGGGTCCGGCCTCATGGCGGTGGCCTCCTCCACCATTGGCATTGTCATCTTTGGGGAGATCCTACCTCAGGCCCTGTGCTCCCGACATGGGCTGGCTGTGGGTGCCAACACCATCCTTCTCACCAAATTCTTTATGCTACTCACCTTCCCCCTCAGTTTTCCCATTAGCAAGCTCCTGGACTTTTTTCTGGGCCAGGAGATTCGCACTGTTTACAACCGGGAGAAGCTGATGGAGATGTTGAAGGTGACGGAGCCCTATAATGACCTCGTGAAAGAGGAGCTCAATATGATCCAGGGTGCCCTGGAACTACGGACCAAAACTGTAGAGGATATCATGACCCAGCTCCAGGACTGCTTCATGATCCGCAGCGATGCCATCCTGGACTTCAACACCATGTCGGAGATAATGGAAAGCGGCTATACTCGCATCCCGGTGTTCGAAGACGAGCAGTCCAATATTGTAGATATTCTCTACGTCAAAGACTTGGCCTTTGTGGACCCCGATGACTGCACCCCCCTCAAGACTATCACTCGCTTCTATAACCACCCGGTGCACTTTGTCTTCCATGACACCAAGTTGGATGCCATGCTGGAGGAGTTCAAGAAGGGTAAGGCCAGATGTAGTTCCCCTGGTTCAATTTCCTCTTGACGCCTCTTTTCCCCTGGCGTGTTTTGTGTCTGCTGGCTTTAGTGTTCTGTTTGTGTGACTCTGTGTCCCTTTGCCTATCGCTTCCTATGCTTCTGAGGTGAACGATTTTGGAGCGGTAGACCCATTCTCAAGTGTCTGCCGTCTGCCAGGTAGTGTGCTGTGTGCTCCTGATGAATCAAAGCTGAATAAGACATACTCGCTCCCTTGGAGGGCTGGAGCAAGACCTCAGGGAGCTATTGAAGCAAGACAGAGTAAGACAGATGCCTGAAAAGAGGCCAGGGCGATGGAGATTTAGAGTATGGGGTGGAGTCAGGAAGGGGCTGGGAAATTGGGGAATCCACAGGGGAAGGAGCATTTGAGGAGAATCTTAAAAGGTAGAGAGGCTTGCTGCTTGAGGCAGAGGGAACCCCGCAAGCAGAGAACCGGAGTGGAGAAGCAAAAGTGTGCTTGTGGCCCAGCAGGTGGTCCTGTTTGGTGGGTATAGTGGCTCTGATGCTTAGTGGTCAATGGCTGGAGTAGTTTGGGGCCCGGTGGTGGACGCTAAGTTTGCTCCCAGCTTGGGAGCTACAGGTTTTTGAGCAGGGGAGTCATGTTACTGGAGGTGCTAGCCCACAGAAGCAGAATTGGGAGGTCTCTAATTGGCTCGCTTCTCAGAACAATGCCAAGTAGCGCTTTCGACTATTCAGCAGAAGCAAGCAGATTAAGTTTTGGTAATTGTGGCGCCAGCGTAAGCTTCCCTCCAGTGGTCTGCTGGAAATCTTCAGCTGCCTTGCACTGCCTTGTGTTTTTTTCTCACCTGGGTTCTTGGCCATTTCGCAGGTAGTTAGAGAGGCATTTGGAGGGTTTACTCATCAGCCTCAAAGCTCAAGGCACACACTCCTTTTCTTCCAGCAAAATTTTCCTCCCATCTCTGCCATTCAGAAACCCTCAAAGTGGCAGTAAACAAGCCAATTATGGAGTGGAACCCTCCCAGGCTGAAGGAAGTGAGGAGGCAGAAAGGGAAGCTCTTTTTTAAAGGAATGGGGGTGAGGGGCTCATCCTAAACTTGGGGACTTTGCTTTCTAAACATGCTCCCAGCCTTCATTCCCATAGGAGAGCTCCTACTGGCTGAGGCTGCTCAGGCCGACCTAGGGCTTGGAGGGACTTCGGAATCCTAGCAGGGAGTGAGCTGGCAGGTGTTTCTGTAACGGAGAGTGGAGGACA
GAGTAAAGTGGGTTCTGTGTCTTCAGTACTGGCAAAAGATTTGCTGTGAGACCTGGTGGTCAACCCAGTACCTGATCTTCTCTGTGCACCTGTGCAATTATTGTAAGGATGTTTATCTGTCTGTCTTCTTCCCCCTCACAGGGCGGGCAGCTGTGGTCTTCCTTATACACCCTACTGACACAGGGCTAGGGCCATTCAGGAAGCAGTCATTTCAGGGATAGGCCCACTGCCGCGCCTGCCTGCTCATGTCCACAAGCAGCTGCCCAGCTGATCAATCACCACAATTTGGGGTTAGGAGTTTGGTCCTGGAAGGCAGGTAGCAACAACTACTACCTAGCCAAAGAATATTCTAAAGAGCTGTCCTGTCATGTTCAATGTCTAGGTCCACAATCCCGCAAGCTTAGCGAAGTAATGCTCTGTCATTCTTACCCCCATTTACAGATGGAGAAATGGGCTGGGAGATGACAGTATGGAGGCACCAGGATTTTTGTCTCGGCTCAATTTCTGCATCTCTAAATGGAAATAATTCTACTAACTCTGAGGGTTGTTGGGGGGATTTAATGAATATATGTGTTTACTTGTTTATCTCCTGTTTTCTGTTCTAGACTGTAAACCCCAATGGGCAGCGACTTTGGCTTGTTCACTGCTCTATTGTCAGAGCCTAGAACAAGTGCCTGGTACAAAGTAGGTGTTCAATAAATATCTATGCCTAAATGGAAGAGACAGGAGAGAAGTCTAGGCCAGAGCCTGCCCCTTCTATAACCTTAGTTCCCCAGATTTGCCTTCCACATCAGGCAGCCACTGGTTGATGGAAGCATCGTCGGGCTGGGGCTGGGGCTGGGGTAACCTACTTCTGGCCTTAGGACAAGGTCGGCAAAAATCTCAGCAGTGAGGAGGCCAGAAAAGTCTCCAAGGGGCAGGCTGCAATGCCAGCCTAAGCCCTCAGGTTTCCTTTTTCTTTTTCTACATCAGGAAAAGCACTTTTCTCGCCCTGCCTGCAGAGCGGGCCACCCCTAGCTGCAGGTGAGGGACGGGAGAGGAGCCTCCCACGTGCGGCCGTGCGAGGCCGAGGAACAGGAACGGCGTAGCTAGGAGACCAGGTCCCGGAGAAGGAGAGCTGGCCCCACTGGCAGAGAAAGGCGGGGAAGGGCGCGGAGGCGGAGCACTGGGCGGGTACCCGCTGGCGGCTCTCGCGCGGCGGCGCTGCTCCACCTTAAGCGACTGTACCCCCTTAAGGGCGGGCGCTCAAGCAGCGAGCCCCGGGGGCGGGGCCTCCAATGCAAATGAGGGGCGTGGGCAGGCGGGGCGGGGCGGGCGGGGCGCTGACCTGACGTCAGGCTCGCGGCCCGGGCAGTTGGCTCGGCGGCAGCGGAGCGGCCGGAGCTGCGGTGCGGACCGGGGCCGCGCGGCGTGGCGCGGGGAGCGGCGGCGGCGGCAGAGCCAGAGCAACATGGCGCCGGTGGGCGGGGGCGGGCGCCCGGTCGGCGGACCGGCCCGCGGGCGCCTCCTCCTGGCGGCGCCGGTGCTGCTGGTGCTGCTGTGGGCGCTGGGGGCCCGGGGCCAGGGCAGCCCCCAGCAGGGCACGATCGTGGGCATGAGGCTGGCGAGCTGCAACAAGTCGTGTGGGACGAACCCGGATGGCATCATCTTCGTGTCCGAGGGCAGCACCGTGAACCTGAGGCTGTACGGCTACAGCCTGGGCAACATCTCCAGCAACCTGATCTCCTTCACCGAGGTGGACGATGCCGAGACCCTCCACAAGTCCACCAGCTGCCTCGAGCTCACCAAGGACCTGGTCGTCCAGCAGCTGGTCAACGTGAGCCGCGGGAACACGTCCGGCGTGCTGGTGGTGCTCACCAAGTTCCTCCGGAGGAGCGAGAGCATGAAGCTGTATGCACTGTGCACCCGGGCCCAGCCCGACGGGCCCTGGCTGAAGTGGACGGACAAGGACTCACTGCTCTTCATGGTGGAGGAGCCTGGGAGGTTCCTGCCTCTCTGGCTGCACATTCTCCTAATTACGGTGCTGCTGGTGCTGTCGGGCATATTTTATGGCCTCAACCTCGGGCTTATGGCCCTGGACCCCATGGAGCTGCGCATCGTGCAGAACTGTGGCACCGAGAAGGAGAGGCGCTATGCCCGCAAGATTGAGCCCATCCGGCGCAAGGGCAACTACCTTCTCTGCTCGTTGCTCCTAGGGAACGTGCTGGTCAACACCTCCCTCACAATCCTTCTAGACAACCTCATCGGGTCCGGCCTCATGGCGGTGGCCTCCTCCACCATTGGCATTGTCATCTTTGGGGAGATCCTACCTCAGGCCCTGTGCTCCCGACATGGGCTGGCTGTGGGTGCCAACACCATCCTTCTCACCAAATTCTTTATGCTACTCACCTTCCCCCTCAGTTTTCCCATTAGCAAGCTCCTGGACTTTTTTCTGGGCCAGGAGATTCGCACTGTTTACAACCGGGAGAAGCTGATGGAGATGTTGAAGGTGACGGAGCCCTATAATGACCTCGTGAAAGAGGAGCTCAATATGATCCAGGGTGCCCTGGAACTACGGACCAAAACTGTAGAGGATATCATGACCCAGCTCCAGGACTGCTTCATGATCCGCAGCGATGCCATCCTGGACTTCAACACCATGTCGGAGATAATGGAAAGCGGCTATACTCGCATCCCGGTGTTCGAAGACGAGCAGTCCAATATTGTAGATATTCTCTACGTCAAAGACTTGGCCTTTGTGGACCCCGATGACTGCACCCCCCTCAAGACTATCACTCGCTTCTATAACCACCCGGTGCACTTTGTCTTCCATGACACCAAGTTGGATGCCATGCTGGAGGAGTTCAAGAAGGGTAAGGCCAGATGTAGTTCCCCTGGTTCAATTTCCTCTTGACGCCTCTTTTCCCCTGGCGTGTTTTGTGTCTGCTGGCTTTAGTGTTCTGTTTGTGTGACTCTGTGTCCCTTTGCCTATCGCTTCCTATGCTTCTGAGGTGAACGATTTTGGAGCGGTAGACCCATTCTCAAGTGTCTGCCGTCTGCCAGGTAGTGTGCTGTGTGCTCCTGATGAATCAAAGCTGAATAAGACATACTCGCTCCCTTGGAGGGCTGGAGCAAGACCTCAGGGAGCTATTGAAGCAAGACAGAGTAAGACAGATGCCTGAAAAGAGGCCAGGGCGATGGAGATTTAGAGTATGGGGTGGAGTCAGGAAGGGGCTGGGAAATTGGGGAATCCACAGGGGAAGGAGCATTTGAGGAGAATCTTAAAAGGTAGAGAGGCTTGCTGCTTGAGGCAGAGGGAACCCCGCAAGCAGAGAACCGGAGTGGAGAAGCAAAAGTGTGCTTGTGGCCCAGCAGGTGGTCCTGTTTGGTGGGTATAGTGGCTCTGATGCTTAGTGGTCAATGGCTGGAGTAGTTTGGGGCCCGGTGGTGGACGCTAAGTTTGCTCCCAGCTTGGGAGCTACAGGTTTTTGAGCAGGGGAGTCATGTTACTGGAGGTGCTAGCCCACAGAAGCAGAATTGGGAGGTCTCTAATTGGCTCGCTTCTCAGAACAATGCCAAGTAGCGCTTTCGACTATTCAGCAGAAGCAAGCAGATTAAGTTTTGGTAATTGTGGCGCCAGCGTAAGCTTCCCTCCAGTGGTCTGCTGGAAATCTTCAGCTGCCTTGCACTGCCTTGTGTTTTTTTCTCACCTGGGTTCTTGGCCATTTCGCAGGTAGTTAGAGAGGCATTTGGAGGGTTTACTCATCAGCCTCAAAGCTCAAGGCACACACTCCTTTTCTTCCAGCAAAATTTTCCTCCCATCTCTGCCATTCAGAAACCCTCAAAGTGGCAGTAAACAAGCCAATTATGGAGTGGAACCCTCCCAGGCTGAAGGAAGTGAGGAGGCAGAAAGGGAAGCTCTTTTTTAAAGGAATGGGGGTGAGGGGCTCATCCTAAACTTGGGGACTTTGCTTTCTAAACATGCTCCCAGCCTTCATTCCCATAGGAGAGCTCCTACTGGCTGAGGCTGCTCAGGCCGACCTAGGGCTTGGAGGGACTTCGGAATCCTAGCAGGGAGTGAGCTGGCAGGTGTTTCTGTAACGGAGAGTGGAGGACA
Task1_train_3842
This variant affects gene CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4) located on Chromosome 2. Evaluate its biological effect and specify any disease association.
Pathogenic; Jalili syndrome
CAATGTCTAGGTCCACAATCCCGCAAGCTTAGCGAAGTAATGCTCTGTCATTCTTACCCCCATTTACAGATGGAGAAATGGGCTGGGAGATGACAGTATGGAGGCACCAGGATTTTTGTCTCGGCTCAATTTCTGCATCTCTAAATGGAAATAATTCTACTAACTCTGAGGGTTGTTGGGGGGATTTAATGAATATATGTGTTTACTTGTTTATCTCCTGTTTTCTGTTCTAGACTGTAAACCCCAATGGGCAGCGACTTTGGCTTGTTCACTGCTCTATTGTCAGAGCCTAGAACAAGTGCCTGGTACAAAGTAGGTGTTCAATAAATATCTATGCCTAAATGGAAGAGACAGGAGAGAAGTCTAGGCCAGAGCCTGCCCCTTCTATAACCTTAGTTCCCCAGATTTGCCTTCCACATCAGGCAGCCACTGGTTGATGGAAGCATCGTCGGGCTGGGGCTGGGGCTGGGGTAACCTACTTCTGGCCTTAGGACAAGGTCGGCAAAAATCTCAGCAGTGAGGAGGCCAGAAAAGTCTCCAAGGGGCAGGCTGCAATGCCAGCCTAAGCCCTCAGGTTTCCTTTTTCTTTTTCTACATCAGGAAAAGCACTTTTCTCGCCCTGCCTGCAGAGCGGGCCACCCCTAGCTGCAGGTGAGGGACGGGAGAGGAGCCTCCCACGTGCGGCCGTGCGAGGCCGAGGAACAGGAACGGCGTAGCTAGGAGACCAGGTCCCGGAGAAGGAGAGCTGGCCCCACTGGCAGAGAAAGGCGGGGAAGGGCGCGGAGGCGGAGCACTGGGCGGGTACCCGCTGGCGGCTCTCGCGCGGCGGCGCTGCTCCACCTTAAGCGACTGTACCCCCTTAAGGGCGGGCGCTCAAGCAGCGAGCCCCGGGGGCGGGGCCTCCAATGCAAATGAGGGGCGTGGGCAGGCGGGGCGGGGCGGGCGGGGCGCTGACCTGACGTCAGGCTCGCGGCCCGGGCAGTTGGCTCGGCGGCAGCGGAGCGGCCGGAGCTGCGGTGCGGACCGGGGCCGCGCGGCGTGGCGCGGGGAGCGGCGGCGGCGGCAGAGCCAGAGCAACATGGCGCCGGTGGGCGGGGGCGGGCGCCCGGTCGGCGGACCGGCCCGCGGGCGCCTCCTCCTGGCGGCGCCGGTGCTGCTGGTGCTGCTGTGGGCGCTGGGGGCCCGGGGCCAGGGCAGCCCCCAGCAGGGCACGATCGTGGGCATGAGGCTGGCGAGCTGCAACAAGTCGTGTGGGACGAACCCGGATGGCATCATCTTCGTGTCCGAGGGCAGCACCGTGAACCTGAGGCTGTACGGCTACAGCCTGGGCAACATCTCCAGCAACCTGATCTCCTTCACCGAGGTGGACGATGCCGAGACCCTCCACAAGTCCACCAGCTGCCTCGAGCTCACCAAGGACCTGGTCGTCCAGCAGCTGGTCAACGTGAGCCGCGGGAACACGTCCGGCGTGCTGGTGGTGCTCACCAAGTTCCTCCGGAGGAGCGAGAGCATGAAGCTGTATGCACTGTGCACCCGGGCCCAGCCCGACGGGCCCTGGCTGAAGTGGACGGACAAGGACTCACTGCTCTTCATGGTGGAGGAGCCTGGGAGGTTCCTGCCTCTCTGGCTGCACATTCTCCTAATTACGGTGCTGCTGGTGCTGTCGGGCATATTTTCTGGCCTCAACCTCGGGCTTATGGCCCTGGACCCCATGGAGCTGCGCATCGTGCAGAACTGTGGCACCGAGAAGGAGAGGCGCTATGCCCGCAAGATTGAGCCCATCCGGCGCAAGGGCAACTACCTTCTCTGCTCGTTGCTCCTAGGGAACGTGCTGGTCAACACCTCCCTCACAATCCTTCTAGACAACCTCATCGGGTCCGGCCTCATGGCGGTGGCCTCCTCCACCATTGGCATTGTCATCTTTGGGGAGATCCTACCTCAGGCCCTGTGCTCCCGACATGGGCTGGCTGTGGGTGCCAACACCATCCTTCTCACCAAATTCTTTATGCTACTCACCTTCCCCCTCAGTTTTCCCATTAGCAAGCTCCTGGACTTTTTTCTGGGCCAGGAGATTCGCACTGTTTACAACCGGGAGAAGCTGATGGAGATGTTGAAGGTGACGGAGCCCTATAATGACCTCGTGAAAGAGGAGCTCAATATGATCCAGGGTGCCCTGGAACTACGGACCAAAACTGTAGAGGATATCATGACCCAGCTCCAGGACTGCTTCATGATCCGCAGCGATGCCATCCTGGACTTCAACACCATGTCGGAGATAATGGAAAGCGGCTATACTCGCATCCCGGTGTTCGAAGACGAGCAGTCCAATATTGTAGATATTCTCTACGTCAAAGACTTGGCCTTTGTGGACCCCGATGACTGCACCCCCCTCAAGACTATCACTCGCTTCTATAACCACCCGGTGCACTTTGTCTTCCATGACACCAAGTTGGATGCCATGCTGGAGGAGTTCAAGAAGGGTAAGGCCAGATGTAGTTCCCCTGGTTCAATTTCCTCTTGACGCCTCTTTTCCCCTGGCGTGTTTTGTGTCTGCTGGCTTTAGTGTTCTGTTTGTGTGACTCTGTGTCCCTTTGCCTATCGCTTCCTATGCTTCTGAGGTGAACGATTTTGGAGCGGTAGACCCATTCTCAAGTGTCTGCCGTCTGCCAGGTAGTGTGCTGTGTGCTCCTGATGAATCAAAGCTGAATAAGACATACTCGCTCCCTTGGAGGGCTGGAGCAAGACCTCAGGGAGCTATTGAAGCAAGACAGAGTAAGACAGATGCCTGAAAAGAGGCCAGGGCGATGGAGATTTAGAGTATGGGGTGGAGTCAGGAAGGGGCTGGGAAATTGGGGAATCCACAGGGGAAGGAGCATTTGAGGAGAATCTTAAAAGGTAGAGAGGCTTGCTGCTTGAGGCAGAGGGAACCCCGCAAGCAGAGAACCGGAGTGGAGAAGCAAAAGTGTGCTTGTGGCCCAGCAGGTGGTCCTGTTTGGTGGGTATAGTGGCTCTGATGCTTAGTGGTCAATGGCTGGAGTAGTTTGGGGCCCGGTGGTGGACGCTAAGTTTGCTCCCAGCTTGGGAGCTACAGGTTTTTGAGCAGGGGAGTCATGTTACTGGAGGTGCTAGCCCACAGAAGCAGAATTGGGAGGTCTCTAATTGGCTCGCTTCTCAGAACAATGCCAAGTAGCGCTTTCGACTATTCAGCAGAAGCAAGCAGATTAAGTTTTGGTAATTGTGGCGCCAGCGTAAGCTTCCCTCCAGTGGTCTGCTGGAAATCTTCAGCTGCCTTGCACTGCCTTGTGTTTTTTTCTCACCTGGGTTCTTGGCCATTTCGCAGGTAGTTAGAGAGGCATTTGGAGGGTTTACTCATCAGCCTCAAAGCTCAAGGCACACACTCCTTTTCTTCCAGCAAAATTTTCCTCCCATCTCTGCCATTCAGAAACCCTCAAAGTGGCAGTAAACAAGCCAATTATGGAGTGGAACCCTCCCAGGCTGAAGGAAGTGAGGAGGCAGAAAGGGAAGCTCTTTTTTAAAGGAATGGGGGTGAGGGGCTCATCCTAAACTTGGGGACTTTGCTTTCTAAACATGCTCCCAGCCTTCATTCCCATAGGAGAGCTCCTACTGGCTGAGGCTGCTCAGGCCGACCTAGGGCTTGGAGGGACTTCGGAATCCTAGCAGGGAGTGAGCTGGCAGGTGTTTCTGTAACGGAGAGTGGAGGACAGCTTTGGAGTGGGATAGGGAGGAGCTGGCTTTGCCAGGTTTGGTCTGAAAAGATGCTGGGGTCAGGGCCAGGGTGGTGGGTTGGTACCCTCCTAAGTTCAACAGACTGAATCTTAGTATCGGAGCTGAGGACCACTTGAGTAAAGTAAGCCAGAGTCTGGGAGAGCCCCAGGGAAGGTGGCCTCCCTGCAGAGACTGGAGAGACAGACCCCTAGTGGTGAAGGCAGAGGCTGCGGTGGGGTGGGGGTGGGGGCGGCTTTGGGAGTGCAGACCCAGGAATCAGGTTTTCCCAGGTACCCGAGCCTGGGACAGAAAAGCAGTGAGGATCTGTGCCCCACCCCCACCCTAAGCCTTGGGACCTGAAGACTTCTCC
CAATGTCTAGGTCCACAATCCCGCAAGCTTAGCGAAGTAATGCTCTGTCATTCTTACCCCCATTTACAGATGGAGAAATGGGCTGGGAGATGACAGTATGGAGGCACCAGGATTTTTGTCTCGGCTCAATTTCTGCATCTCTAAATGGAAATAATTCTACTAACTCTGAGGGTTGTTGGGGGGATTTAATGAATATATGTGTTTACTTGTTTATCTCCTGTTTTCTGTTCTAGACTGTAAACCCCAATGGGCAGCGACTTTGGCTTGTTCACTGCTCTATTGTCAGAGCCTAGAACAAGTGCCTGGTACAAAGTAGGTGTTCAATAAATATCTATGCCTAAATGGAAGAGACAGGAGAGAAGTCTAGGCCAGAGCCTGCCCCTTCTATAACCTTAGTTCCCCAGATTTGCCTTCCACATCAGGCAGCCACTGGTTGATGGAAGCATCGTCGGGCTGGGGCTGGGGCTGGGGTAACCTACTTCTGGCCTTAGGACAAGGTCGGCAAAAATCTCAGCAGTGAGGAGGCCAGAAAAGTCTCCAAGGGGCAGGCTGCAATGCCAGCCTAAGCCCTCAGGTTTCCTTTTTCTTTTTCTACATCAGGAAAAGCACTTTTCTCGCCCTGCCTGCAGAGCGGGCCACCCCTAGCTGCAGGTGAGGGACGGGAGAGGAGCCTCCCACGTGCGGCCGTGCGAGGCCGAGGAACAGGAACGGCGTAGCTAGGAGACCAGGTCCCGGAGAAGGAGAGCTGGCCCCACTGGCAGAGAAAGGCGGGGAAGGGCGCGGAGGCGGAGCACTGGGCGGGTACCCGCTGGCGGCTCTCGCGCGGCGGCGCTGCTCCACCTTAAGCGACTGTACCCCCTTAAGGGCGGGCGCTCAAGCAGCGAGCCCCGGGGGCGGGGCCTCCAATGCAAATGAGGGGCGTGGGCAGGCGGGGCGGGGCGGGCGGGGCGCTGACCTGACGTCAGGCTCGCGGCCCGGGCAGTTGGCTCGGCGGCAGCGGAGCGGCCGGAGCTGCGGTGCGGACCGGGGCCGCGCGGCGTGGCGCGGGGAGCGGCGGCGGCGGCAGAGCCAGAGCAACATGGCGCCGGTGGGCGGGGGCGGGCGCCCGGTCGGCGGACCGGCCCGCGGGCGCCTCCTCCTGGCGGCGCCGGTGCTGCTGGTGCTGCTGTGGGCGCTGGGGGCCCGGGGCCAGGGCAGCCCCCAGCAGGGCACGATCGTGGGCATGAGGCTGGCGAGCTGCAACAAGTCGTGTGGGACGAACCCGGATGGCATCATCTTCGTGTCCGAGGGCAGCACCGTGAACCTGAGGCTGTACGGCTACAGCCTGGGCAACATCTCCAGCAACCTGATCTCCTTCACCGAGGTGGACGATGCCGAGACCCTCCACAAGTCCACCAGCTGCCTCGAGCTCACCAAGGACCTGGTCGTCCAGCAGCTGGTCAACGTGAGCCGCGGGAACACGTCCGGCGTGCTGGTGGTGCTCACCAAGTTCCTCCGGAGGAGCGAGAGCATGAAGCTGTATGCACTGTGCACCCGGGCCCAGCCCGACGGGCCCTGGCTGAAGTGGACGGACAAGGACTCACTGCTCTTCATGGTGGAGGAGCCTGGGAGGTTCCTGCCTCTCTGGCTGCACATTCTCCTAATTACGGTGCTGCTGGTGCTGTCGGGCATATTTTCTGGCCTCAACCTCGGGCTTATGGCCCTGGACCCCATGGAGCTGCGCATCGTGCAGAACTGTGGCACCGAGAAGGAGAGGCGCTATGCCCGCAAGATTGAGCCCATCCGGCGCAAGGGCAACTACCTTCTCTGCTCGTTGCTCCTAGGGAACGTGCTGGTCAACACCTCCCTCACAATCCTTCTAGACAACCTCATCGGGTCCGGCCTCATGGCGGTGGCCTCCTCCACCATTGGCATTGTCATCTTTGGGGAGATCCTACCTCAGGCCCTGTGCTCCCGACATGGGCTGGCTGTGGGTGCCAACACCATCCTTCTCACCAAATTCTTTATGCTACTCACCTTCCCCCTCAGTTTTCCCATTAGCAAGCTCCCGGACTTTTTTCTGGGCCAGGAGATTCGCACTGTTTACAACCGGGAGAAGCTGATGGAGATGTTGAAGGTGACGGAGCCCTATAATGACCTCGTGAAAGAGGAGCTCAATATGATCCAGGGTGCCCTGGAACTACGGACCAAAACTGTAGAGGATATCATGACCCAGCTCCAGGACTGCTTCATGATCCGCAGCGATGCCATCCTGGACTTCAACACCATGTCGGAGATAATGGAAAGCGGCTATACTCGCATCCCGGTGTTCGAAGACGAGCAGTCCAATATTGTAGATATTCTCTACGTCAAAGACTTGGCCTTTGTGGACCCCGATGACTGCACCCCCCTCAAGACTATCACTCGCTTCTATAACCACCCGGTGCACTTTGTCTTCCATGACACCAAGTTGGATGCCATGCTGGAGGAGTTCAAGAAGGGTAAGGCCAGATGTAGTTCCCCTGGTTCAATTTCCTCTTGACGCCTCTTTTCCCCTGGCGTGTTTTGTGTCTGCTGGCTTTAGTGTTCTGTTTGTGTGACTCTGTGTCCCTTTGCCTATCGCTTCCTATGCTTCTGAGGTGAACGATTTTGGAGCGGTAGACCCATTCTCAAGTGTCTGCCGTCTGCCAGGTAGTGTGCTGTGTGCTCCTGATGAATCAAAGCTGAATAAGACATACTCGCTCCCTTGGAGGGCTGGAGCAAGACCTCAGGGAGCTATTGAAGCAAGACAGAGTAAGACAGATGCCTGAAAAGAGGCCAGGGCGATGGAGATTTAGAGTATGGGGTGGAGTCAGGAAGGGGCTGGGAAATTGGGGAATCCACAGGGGAAGGAGCATTTGAGGAGAATCTTAAAAGGTAGAGAGGCTTGCTGCTTGAGGCAGAGGGAACCCCGCAAGCAGAGAACCGGAGTGGAGAAGCAAAAGTGTGCTTGTGGCCCAGCAGGTGGTCCTGTTTGGTGGGTATAGTGGCTCTGATGCTTAGTGGTCAATGGCTGGAGTAGTTTGGGGCCCGGTGGTGGACGCTAAGTTTGCTCCCAGCTTGGGAGCTACAGGTTTTTGAGCAGGGGAGTCATGTTACTGGAGGTGCTAGCCCACAGAAGCAGAATTGGGAGGTCTCTAATTGGCTCGCTTCTCAGAACAATGCCAAGTAGCGCTTTCGACTATTCAGCAGAAGCAAGCAGATTAAGTTTTGGTAATTGTGGCGCCAGCGTAAGCTTCCCTCCAGTGGTCTGCTGGAAATCTTCAGCTGCCTTGCACTGCCTTGTGTTTTTTTCTCACCTGGGTTCTTGGCCATTTCGCAGGTAGTTAGAGAGGCATTTGGAGGGTTTACTCATCAGCCTCAAAGCTCAAGGCACACACTCCTTTTCTTCCAGCAAAATTTTCCTCCCATCTCTGCCATTCAGAAACCCTCAAAGTGGCAGTAAACAAGCCAATTATGGAGTGGAACCCTCCCAGGCTGAAGGAAGTGAGGAGGCAGAAAGGGAAGCTCTTTTTTAAAGGAATGGGGGTGAGGGGCTCATCCTAAACTTGGGGACTTTGCTTTCTAAACATGCTCCCAGCCTTCATTCCCATAGGAGAGCTCCTACTGGCTGAGGCTGCTCAGGCCGACCTAGGGCTTGGAGGGACTTCGGAATCCTAGCAGGGAGTGAGCTGGCAGGTGTTTCTGTAACGGAGAGTGGAGGACAGCTTTGGAGTGGGATAGGGAGGAGCTGGCTTTGCCAGGTTTGGTCTGAAAAGATGCTGGGGTCAGGGCCAGGGTGGTGGGTTGGTACCCTCCTAAGTTCAACAGACTGAATCTTAGTATCGGAGCTGAGGACCACTTGAGTAAAGTAAGCCAGAGTCTGGGAGAGCCCCAGGGAAGGTGGCCTCCCTGCAGAGACTGGAGAGACAGACCCCTAGTGGTGAAGGCAGAGGCTGCGGTGGGGTGGGGGTGGGGGCGGCTTTGGGAGTGCAGACCCAGGAATCAGGTTTTCCCAGGTACCCGAGCCTGGGACAGAAAAGCAGTGAGGATCTGTGCCCCACCCCCACCCTAAGCCTTGGGACCTGAAGACTTCTCC
Task1_train_3843
Gene CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Jalili syndrome
GGCAGCGACTTTGGCTTGTTCACTGCTCTATTGTCAGAGCCTAGAACAAGTGCCTGGTACAAAGTAGGTGTTCAATAAATATCTATGCCTAAATGGAAGAGACAGGAGAGAAGTCTAGGCCAGAGCCTGCCCCTTCTATAACCTTAGTTCCCCAGATTTGCCTTCCACATCAGGCAGCCACTGGTTGATGGAAGCATCGTCGGGCTGGGGCTGGGGCTGGGGTAACCTACTTCTGGCCTTAGGACAAGGTCGGCAAAAATCTCAGCAGTGAGGAGGCCAGAAAAGTCTCCAAGGGGCAGGCTGCAATGCCAGCCTAAGCCCTCAGGTTTCCTTTTTCTTTTTCTACATCAGGAAAAGCACTTTTCTCGCCCTGCCTGCAGAGCGGGCCACCCCTAGCTGCAGGTGAGGGACGGGAGAGGAGCCTCCCACGTGCGGCCGTGCGAGGCCGAGGAACAGGAACGGCGTAGCTAGGAGACCAGGTCCCGGAGAAGGAGAGCTGGCCCCACTGGCAGAGAAAGGCGGGGAAGGGCGCGGAGGCGGAGCACTGGGCGGGTACCCGCTGGCGGCTCTCGCGCGGCGGCGCTGCTCCACCTTAAGCGACTGTACCCCCTTAAGGGCGGGCGCTCAAGCAGCGAGCCCCGGGGGCGGGGCCTCCAATGCAAATGAGGGGCGTGGGCAGGCGGGGCGGGGCGGGCGGGGCGCTGACCTGACGTCAGGCTCGCGGCCCGGGCAGTTGGCTCGGCGGCAGCGGAGCGGCCGGAGCTGCGGTGCGGACCGGGGCCGCGCGGCGTGGCGCGGGGAGCGGCGGCGGCGGCAGAGCCAGAGCAACATGGCGCCGGTGGGCGGGGGCGGGCGCCCGGTCGGCGGACCGGCCCGCGGGCGCCTCCTCCTGGCGGCGCCGGTGCTGCTGGTGCTGCTGTGGGCGCTGGGGGCCCGGGGCCAGGGCAGCCCCCAGCAGGGCACGATCGTGGGCATGAGGCTGGCGAGCTGCAACAAGTCGTGTGGGACGAACCCGGATGGCATCATCTTCGTGTCCGAGGGCAGCACCGTGAACCTGAGGCTGTACGGCTACAGCCTGGGCAACATCTCCAGCAACCTGATCTCCTTCACCGAGGTGGACGATGCCGAGACCCTCCACAAGTCCACCAGCTGCCTCGAGCTCACCAAGGACCTGGTCGTCCAGCAGCTGGTCAACGTGAGCCGCGGGAACACGTCCGGCGTGCTGGTGGTGCTCACCAAGTTCCTCCGGAGGAGCGAGAGCATGAAGCTGTATGCACTGTGCACCCGGGCCCAGCCCGACGGGCCCTGGCTGAAGTGGACGGACAAGGACTCACTGCTCTTCATGGTGGAGGAGCCTGGGAGGTTCCTGCCTCTCTGGCTGCACATTCTCCTAATTACGGTGCTGCTGGTGCTGTCGGGCATATTTTCTGGCCTCAACCTCGGGCTTATGGCCCTGGACCCCATGGAGCTGCGCATCGTGCAGAACTGTGGCACCGAGAAGGAGAGGCGCTATGCCCGCAAGATTGAGCCCATCCGGCGCAAGGGCAACTACCTTCTCTGCTCGTTGCTCCTAGGGAACGTGCTGGTCAACACCTCCCTCACAATCCTTCTAGACAACCTCATCGGGTCCGGCCTCATGGCGGTGGCCTCCTCCACCATTGGCATTGTCATCTTTGGGGAGATCCTACCTCAGGCCCTGTGCTCCCGACATGGGCTGGCTGTGGGTGCCAACACCATCCTTCTCACCAAATTCTTTATGCTACTCACCTTCCCCCTCAGTTTTCCCATTAGCAAGCTCCTGGACTTTTTTCTGGGCCAGGAGATTCGCACTGTTTACAACCGGGAGAAGCTGATGGAGATGTTGAAGGTGACGGAGCCCTATAATGACCTCGTGAAAGAGGAGCTCAATATGATCCAGGGTGCCCTGGAACTACGGACCAAAACTGTAGAGGATATCATGACCCAGCTCCAGGACTGCTTCATGATCCGCAGCGATGCCATCCTGGACTTCAACACCATGTCGGAGATAATGGAAAGCGGCTATACTCGCATCCCGGTGTTCGAAGACGAGCAGTCCAATATTGTAGATATTCTCTACGTCAAAGACTTGGCCTTTGTGGACCCCGATGACTGCACCCCCCTCAAGACTATCACTCGCTTCTATAACCACCCGGTGCACTTTGTCTTCCATGACACCAAGTTGGATGCCATGCTGGAGGAGTTCAAGAAGGGTAAGGCCAGATGTAGTTCCCCTGGTTCAATTTCCTCTTGACGCCTCTTTTCCCCTGGCGTGTTTTGTGTCTGCTGGCTTTAGTGTTCTGTTTGTGTGACTCTGTGTCCCTTTGCCTATCGCTTCCTATGCTTCTGAGGTGAACGATTTTGGAGCGGTAGACCCATTCTCAAGTGTCTGCCGTCTGCCAGGTAGTGTGCTGTGTGCTCCTGATGAATCAAAGCTGAATAAGACATACTCGCTCCCTTGGAGGGCTGGAGCAAGACCTCAGGGAGCTATTGAAGCAAGACAGAGTAAGACAGATGCCTGAAAAGAGGCCAGGGCGATGGAGATTTAGAGTATGGGGTGGAGTCAGGAAGGGGCTGGGAAATTGGGGAATCCACAGGGGAAGGAGCATTTGAGGAGAATCTTAAAAGGTAGAGAGGCTTGCTGCTTGAGGCAGAGGGAACCCCGCAAGCAGAGAACCGGAGTGGAGAAGCAAAAGTGTGCTTGTGGCCCAGCAGGTGGTCCTGTTTGGTGGGTATAGTGGCTCTGATGCTTAGTGGTCAATGGCTGGAGTAGTTTGGGGCCCGGTGGTGGACGCTAAGTTTGCTCCCAGCTTGGGAGCTACAGGTTTTTGAGCAGGGGAGTCATGTTACTGGAGGTGCTAGCCCACAGAAGCAGAATTGGGAGGTCTCTAATTGGCTCGCTTCTCAGAACAATGCCAAGTAGCGCTTTCGACTATTCAGCAGAAGCAAGCAGATTAAGTTTTGGTAATTGTGGCGCCAGCGTAAGCTTCCCTCCAGTGGTCTGCTGGAAATCTTCAGCTGCCTTGCACTGCCTTGTGTTTTTTTCTCACCTGGGTTCTTGGCCATTTCGCAGGTAGTTAGAGAGGCATTTGGAGGGTTTACTCATCAGCCTCAAAGCTCAAGGCACACACTCCTTTTCTTCCAGCAAAATTTTCCTCCCATCTCTGCCATTCAGAAACCCTCAAAGTGGCAGTAAACAAGCCAATTATGGAGTGGAACCCTCCCAGGCTGAAGGAAGTGAGGAGGCAGAAAGGGAAGCTCTTTTTTAAAGGAATGGGGGTGAGGGGCTCATCCTAAACTTGGGGACTTTGCTTTCTAAACATGCTCCCAGCCTTCATTCCCATAGGAGAGCTCCTACTGGCTGAGGCTGCTCAGGCCGACCTAGGGCTTGGAGGGACTTCGGAATCCTAGCAGGGAGTGAGCTGGCAGGTGTTTCTGTAACGGAGAGTGGAGGACAGCTTTGGAGTGGGATAGGGAGGAGCTGGCTTTGCCAGGTTTGGTCTGAAAAGATGCTGGGGTCAGGGCCAGGGTGGTGGGTTGGTACCCTCCTAAGTTCAACAGACTGAATCTTAGTATCGGAGCTGAGGACCACTTGAGTAAAGTAAGCCAGAGTCTGGGAGAGCCCCAGGGAAGGTGGCCTCCCTGCAGAGACTGGAGAGACAGACCCCTAGTGGTGAAGGCAGAGGCTGCGGTGGGGTGGGGGTGGGGGCGGCTTTGGGAGTGCAGACCCAGGAATCAGGTTTTCCCAGGTACCCGAGCCTGGGACAGAAAAGCAGTGAGGATCTGTGCCCCACCCCCACCCTAAGCCTTGGGACCTGAAGACTTCTCCTATTGCTTAGTTGGGAACCTGATTAGGACCCTCCAGGGCAACTTCCTCCTCACTGCCTCTGTGGTGTTTGGGACTATGGTTTGTGACACACCCAGTAGCACCTTCCCATCAGTTCATTTGGAATCTGGATCCAACCAGTATGGATTGGTCTGACCAGTCTCCCAGTCTTGATCAGCAGGGCTGAGCTCTCTTGGGTTGGAGCCTCCTGGGTCTTGAGAGGGCTGTCTTTGGGCTCTGTCTTGTCAAGTG
GGCAGCGACTTTGGCTTGTTCACTGCTCTATTGTCAGAGCCTAGAACAAGTGCCTGGTACAAAGTAGGTGTTCAATAAATATCTATGCCTAAATGGAAGAGACAGGAGAGAAGTCTAGGCCAGAGCCTGCCCCTTCTATAACCTTAGTTCCCCAGATTTGCCTTCCACATCAGGCAGCCACTGGTTGATGGAAGCATCGTCGGGCTGGGGCTGGGGCTGGGGTAACCTACTTCTGGCCTTAGGACAAGGTCGGCAAAAATCTCAGCAGTGAGGAGGCCAGAAAAGTCTCCAAGGGGCAGGCTGCAATGCCAGCCTAAGCCCTCAGGTTTCCTTTTTCTTTTTCTACATCAGGAAAAGCACTTTTCTCGCCCTGCCTGCAGAGCGGGCCACCCCTAGCTGCAGGTGAGGGACGGGAGAGGAGCCTCCCACGTGCGGCCGTGCGAGGCCGAGGAACAGGAACGGCGTAGCTAGGAGACCAGGTCCCGGAGAAGGAGAGCTGGCCCCACTGGCAGAGAAAGGCGGGGAAGGGCGCGGAGGCGGAGCACTGGGCGGGTACCCGCTGGCGGCTCTCGCGCGGCGGCGCTGCTCCACCTTAAGCGACTGTACCCCCTTAAGGGCGGGCGCTCAAGCAGCGAGCCCCGGGGGCGGGGCCTCCAATGCAAATGAGGGGCGTGGGCAGGCGGGGCGGGGCGGGCGGGGCGCTGACCTGACGTCAGGCTCGCGGCCCGGGCAGTTGGCTCGGCGGCAGCGGAGCGGCCGGAGCTGCGGTGCGGACCGGGGCCGCGCGGCGTGGCGCGGGGAGCGGCGGCGGCGGCAGAGCCAGAGCAACATGGCGCCGGTGGGCGGGGGCGGGCGCCCGGTCGGCGGACCGGCCCGCGGGCGCCTCCTCCTGGCGGCGCCGGTGCTGCTGGTGCTGCTGTGGGCGCTGGGGGCCCGGGGCCAGGGCAGCCCCCAGCAGGGCACGATCGTGGGCATGAGGCTGGCGAGCTGCAACAAGTCGTGTGGGACGAACCCGGATGGCATCATCTTCGTGTCCGAGGGCAGCACCGTGAACCTGAGGCTGTACGGCTACAGCCTGGGCAACATCTCCAGCAACCTGATCTCCTTCACCGAGGTGGACGATGCCGAGACCCTCCACAAGTCCACCAGCTGCCTCGAGCTCACCAAGGACCTGGTCGTCCAGCAGCTGGTCAACGTGAGCCGCGGGAACACGTCCGGCGTGCTGGTGGTGCTCACCAAGTTCCTCCGGAGGAGCGAGAGCATGAAGCTGTATGCACTGTGCACCCGGGCCCAGCCCGACGGGCCCTGGCTGAAGTGGACGGACAAGGACTCACTGCTCTTCATGGTGGAGGAGCCTGGGAGGTTCCTGCCTCTCTGGCTGCACATTCTCCTAATTACGGTGCTGCTGGTGCTGTCGGGCATATTTTCTGGCCTCAACCTCGGGCTTATGGCCCTGGACCCCATGGAGCTGCGCATCGTGCAGAACTGTGGCACCGAGAAGGAGAGGCGCTATGCCCGCAAGATTGAGCCCATCCGGCGCAAGGGCAACTACCTTCTCTGCTCGTTGCTCCTAGGGAACGTGCTGGTCAACACCTCCCTCACAATCCTTCTAGACAACCTCATCGGGTCCGGCCTCATGGCGGTGGCCTCCTCCACCATTGGCATTGTCATCTTTGGGGAGATCCTACCTCAGGCCCTGTGCTCCCGACATGGGCTGGCTGTGGGTGCCAACACCATCCTTCTCACCAAATTCTTTATGCTACTCACCTTCCCCCTCAGTTTTCCCATTAGCAAGCTCCTGGACTTTTTTCTGGGCCAGGAGATTCGCACTGTTTACAACCGGGAGAAGCTGATGGAGATGTTGAAGGTGACGGAGCCCTATAATGACCTCGTGAAAGAGGAGCTCAATATGATCCAGGGTGCCCTGGAACTACGGACCAAAACTGTAGAGGATATCATGACCCAGCTCCAGGACTGCTTCATGATCCGCAGCGATGCCATCCTGGACTTCAACACCATGTCGGAGATAATGGAAAGCGGCTATACTCTCATCCCGGTGTTCGAAGACGAGCAGTCCAATATTGTAGATATTCTCTACGTCAAAGACTTGGCCTTTGTGGACCCCGATGACTGCACCCCCCTCAAGACTATCACTCGCTTCTATAACCACCCGGTGCACTTTGTCTTCCATGACACCAAGTTGGATGCCATGCTGGAGGAGTTCAAGAAGGGTAAGGCCAGATGTAGTTCCCCTGGTTCAATTTCCTCTTGACGCCTCTTTTCCCCTGGCGTGTTTTGTGTCTGCTGGCTTTAGTGTTCTGTTTGTGTGACTCTGTGTCCCTTTGCCTATCGCTTCCTATGCTTCTGAGGTGAACGATTTTGGAGCGGTAGACCCATTCTCAAGTGTCTGCCGTCTGCCAGGTAGTGTGCTGTGTGCTCCTGATGAATCAAAGCTGAATAAGACATACTCGCTCCCTTGGAGGGCTGGAGCAAGACCTCAGGGAGCTATTGAAGCAAGACAGAGTAAGACAGATGCCTGAAAAGAGGCCAGGGCGATGGAGATTTAGAGTATGGGGTGGAGTCAGGAAGGGGCTGGGAAATTGGGGAATCCACAGGGGAAGGAGCATTTGAGGAGAATCTTAAAAGGTAGAGAGGCTTGCTGCTTGAGGCAGAGGGAACCCCGCAAGCAGAGAACCGGAGTGGAGAAGCAAAAGTGTGCTTGTGGCCCAGCAGGTGGTCCTGTTTGGTGGGTATAGTGGCTCTGATGCTTAGTGGTCAATGGCTGGAGTAGTTTGGGGCCCGGTGGTGGACGCTAAGTTTGCTCCCAGCTTGGGAGCTACAGGTTTTTGAGCAGGGGAGTCATGTTACTGGAGGTGCTAGCCCACAGAAGCAGAATTGGGAGGTCTCTAATTGGCTCGCTTCTCAGAACAATGCCAAGTAGCGCTTTCGACTATTCAGCAGAAGCAAGCAGATTAAGTTTTGGTAATTGTGGCGCCAGCGTAAGCTTCCCTCCAGTGGTCTGCTGGAAATCTTCAGCTGCCTTGCACTGCCTTGTGTTTTTTTCTCACCTGGGTTCTTGGCCATTTCGCAGGTAGTTAGAGAGGCATTTGGAGGGTTTACTCATCAGCCTCAAAGCTCAAGGCACACACTCCTTTTCTTCCAGCAAAATTTTCCTCCCATCTCTGCCATTCAGAAACCCTCAAAGTGGCAGTAAACAAGCCAATTATGGAGTGGAACCCTCCCAGGCTGAAGGAAGTGAGGAGGCAGAAAGGGAAGCTCTTTTTTAAAGGAATGGGGGTGAGGGGCTCATCCTAAACTTGGGGACTTTGCTTTCTAAACATGCTCCCAGCCTTCATTCCCATAGGAGAGCTCCTACTGGCTGAGGCTGCTCAGGCCGACCTAGGGCTTGGAGGGACTTCGGAATCCTAGCAGGGAGTGAGCTGGCAGGTGTTTCTGTAACGGAGAGTGGAGGACAGCTTTGGAGTGGGATAGGGAGGAGCTGGCTTTGCCAGGTTTGGTCTGAAAAGATGCTGGGGTCAGGGCCAGGGTGGTGGGTTGGTACCCTCCTAAGTTCAACAGACTGAATCTTAGTATCGGAGCTGAGGACCACTTGAGTAAAGTAAGCCAGAGTCTGGGAGAGCCCCAGGGAAGGTGGCCTCCCTGCAGAGACTGGAGAGACAGACCCCTAGTGGTGAAGGCAGAGGCTGCGGTGGGGTGGGGGTGGGGGCGGCTTTGGGAGTGCAGACCCAGGAATCAGGTTTTCCCAGGTACCCGAGCCTGGGACAGAAAAGCAGTGAGGATCTGTGCCCCACCCCCACCCTAAGCCTTGGGACCTGAAGACTTCTCCTATTGCTTAGTTGGGAACCTGATTAGGACCCTCCAGGGCAACTTCCTCCTCACTGCCTCTGTGGTGTTTGGGACTATGGTTTGTGACACACCCAGTAGCACCTTCCCATCAGTTCATTTGGAATCTGGATCCAACCAGTATGGATTGGTCTGACCAGTCTCCCAGTCTTGATCAGCAGGGCTGAGCTCTCTTGGGTTGGAGCCTCCTGGGTCTTGAGAGGGCTGTCTTTGGGCTCTGTCTTGTCAAGTG
Task1_train_3844
This genomic variant is located on Chromosome 2, within the CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Jalili syndrome
GGCGTGTATTCTGCAAATATTCCAAAATCCAAAAAAATCTGAAATCTGAAACACTTCTGATCCCCAGTGAGGAATAAGGGATACTCAGCCTGTCAAAGCTGCCTTGCTTTAATTCCCATCCCCATGTGGTGACATGGTTTAGCTAGATGCCCAGGCCCTTCCAGGCACTGTCTTTCTGGAGGGCACTCCTGTATGGACAGCCTCCAGCAGGCACAGAGGCCTGGGGGCGGACCCCAGGGTCCCGGCCTGGCCCGCTGCCGCCCTGCTGGAGGGCCTCACAGATCTCTTGAACTTGTTGGCTCATCTCTAGGAAGATACTGGGGTATTTTCAATCGAGTCCAGCCATGGCTTTGTCTAGCAAGACGCTAAATGTTTTTTGACCAGAACCTGTAGTGGGAAATACATATATCATAGCCCCTGGCATGTGTGTGAAAAACTTTCACAATGCAGTACCCCCCCCCCCATCACATGGGGTGTATTGTGAGAATTTTTACTTTAGTCATGAGACCTCACATTCTCTCTGCTCTCCCTAAGAGGCCCTTAGAAGTTCTTAACAGCCCATCTTGGGCTGGGGGATTTTCTGTGGCCTTAAAGACCTGGAAAACATCCTCCACCGAGGGTATTTAGGATGAGTTCTTTAGTCCCTAGAGCGAGGCCCTTGGATTGTGAAGGGGAAGCCATGCAGAAGACCCTGACTTGACCTTCCCAGATTTCCGGGGGCCTTTCTTCCTAGGCTGCTCCAAACCTGTGTTCCTGCGAGTGGGGTATGGCACACAGGACTCATTCCACCTAGACTGTGGACCTAGCCCTTCTTGGCTGGACCCTCTTGCCACTCATGGGGCTGGGGCCATAAGAACAGGGTGTGGCCTTCAAAAAGGGGTCTGGGAAGACCCACCACCCCACAGGGTTTCTGTGGAGGGTCCTGCCCCATGCCAGCCTCCTTCCCTCACTTTGGGTTGAGGGGGTGGCCCCTCTCTAATTGTAGTCTCTGCCCCACCTAATCACAGTGCTCGGCCTCTCTGTGCCCTTGTCAGTTTGGGTCTTTCCCCTCCCCAAGAGTTCCAGAAGCCCCTGATAAGTGATACCAGACAGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGTGTGTACTACCACACCTAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCTGCCCGCTTCAGCCCGTCCAAGGTGCTGGGATTACAGATGTGAGCCATTGCTCCCAGCATTGCCATTTTTATCCGATTTAAACAAGTAGTCCTGGCCTGGCGTGGTGGCTCATTCCTGTATTCCCAGCACTTTGGGAGGCTGAGATGGGAGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCTTGAGCAACATAGCGAGATCCATCTCTACAAAAAATAAAAGAGTTAGCCAGGCATGGTGGAGCACACCTGTGGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGAAGTTGGCGGCTGCAGTGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGTAACAGAGCTAGACCCTGTCCTTCCTCCACAAAAACAGAGAAAAACAAAAAAGTGGTCCTTAACGACATGCTTTTAAAAATTACTTTTAGTTTTCCTTTTCATAAAAGCAATGTCTGTTTGCAGTAGAAACGTCAGGAAAGATGGAAAAGATAAAAACCACCATGACCCCATCCTGGTGACTTATGACCCTACGTCTAGAGTTAATGTTTTGGTTGAGGGAGTCTCATGACTGGCCTCTGGGCTCTTGTCTGACTTGCTGCATTGTCCCACAGGGAAGTCCCACCTGGCCATCGTGCAGAAGGTAAACAACGAGGGTGAGGGTGACCCCTTCTACGAGGTCCTGGGCCTGGTCACCCTGGAGGACGTGATCGAGGAGATCATCAAGTCGGAGATCCTGGACGAGTCCGACATGTACAGTGAGTCCAGCCTTCCACAGGGCCCAGGACCCCTTTCCTGCTTGGATCGAAACTTGGTGTCCCTAGCTGGAAGGGCCATAGTGCAGGGACACAGGAGGCCTAGCATCCAGAGGCCCAGTGGCTGGGTGCCCTGCACTGGCCGGGGTGAGCAGGGAGCAGGTTGCTGAGAGCAGTGCCCGGAGGCTGCCTTCACCCTCGGCCTTTGTGCCTCGGCGTCAGCCCAGGACCCTGCCAGCCAGAGCCTGCTGCTCCTGCGTGGGACTAGGGGCTGGAGAGCAGGAGCTGCGGGGCGGGTTCCAGTCTCTTCCTAAGTCCTCAGGGGTCTGTGTTCTCAATTCCACGCTCTTCTTCCGGCAGCTGACAACCGAAGCCGGAAGCGGGTGTCTGAGAAGAACAAGCGTGACTTCTCTGCCTTCAAGGATGCGGACAATGAGCTCAAAGTGAAAATCTCCCCGCAGCTCCTCCTGGCCGCTCATCGCTTCCTAGCCACAGGTAGCATGAGGAGGACCTTCCGGTCTTGGTGGAAATACGGTCACGGGGGAGAAGTCCTGGGTTTCCGGCTGCTTTCCCCCCATAGGACGAGGGCTGCAGCAGGTGAGGGGTGCAGAGACAACACAGCCACCCCTGGAAGGGGCCGGGTATCTGCTCCACCCCTGGGGATCTCCCTGCGATTCATTTGCCATTAATGGGCGGCTACTGCAAACTTCTAGGAAGCATCCAAGTTACTATATTTAATAGTTTGGGAAATAATGACTAGGCACTATGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCATGAGCCCAGGAGTTCGAGACCAGCCTGAGCAACATGGCGAGACCCCATCTCTACAAAAAATACAAAAGCCAGGCATGGTGGTGCCCTCCTGTAGTCCCAGCTACTTGGGAGGCTATGAGGTGGGACAGTTGCATGTCTGTGGTCCCAGCTACTCAGGAGGCTGATGTGGGAGGACCGCTTGAGCCCAGGAGTTTGAAGCTGCAGTAAGTTGTGAATGCACCACTGCACTCAGCCTGGGCCACAGAACAAGATTCTGTCTCAAAAATAACAAAAAAGAAAATAACCACTGAGGTGGGCCCCTAGGCTGGCCAGGCCCATCAGGGCTTGTGGAATGGGAAGGAGAAGGGACGCTTCCCCTTCTGCAGGCCTGCTGGGTGTGGCTGGACCCCTCGTGTGCTCACCCACTCTGAGGAGCTTGCATCCAGCTCTGCTCTTACTCTCCAGCTCTCCCCTTTGCAGACGTGTGCTGGTTCCCGCAGGAATTCACTTCTAGTTCAGAGACATTTCTCTCTTTTCAGCCCTGATTCAAAGCTCCACTGGGGACTTGGGTGACAGGTTCTGCTCTGCCCGCTCTGTCCCCCTCTTCCCCTGGCCCAATTCATCTTCCTTCCCACCCCTTACTTGCTAAAGGGGTGGCAATTCCCTCTCCATTATTTTTCCTGTGGGATATTGATGCTGATGCAATAATTATAGTCTATATATTTTAGTATATATGGACAGCACATATATACTAAGTGCTGTCCATGTGCTATCCCATTCACCCTCACAACCACCCTGTGAAGCTTTTACCCCCATATTACAGATGAGGAAACTGAGATGCAGGTTAAGTAATTTGCCCAAGGTCATGTGCTGTTCTTGCAGGAGCCACTGTTCAAGCCCAGGCAGGCAGGCAGCCTTGTATCCAACCAGTCAGAAGCCAAGCGTGCTCCCTCCCCAGGGAGGTGCAGAACGAGGGCCGGCCGAGCAGGGCGGGAGTCGTCTGAGCACAGCGTGGCTGCTGTGGTTGGGGTGGAGGCACAGCAGTGATCGAGCTTTAGGGCCACCTGGCCAGCCCCGTGTGAGGTCTCTTCTCTCTCCTCCTACAGAGGTCTCTCAGTTTAGCCCCTCCCTGATATCAGAGAAGATCCTGCTGCGGCTACTCAAGTACCCAGATGTCATTC
GGCGTGTATTCTGCAAATATTCCAAAATCCAAAAAAATCTGAAATCTGAAACACTTCTGATCCCCAGTGAGGAATAAGGGATACTCAGCCTGTCAAAGCTGCCTTGCTTTAATTCCCATCCCCATGTGGTGACATGGTTTAGCTAGATGCCCAGGCCCTTCCAGGCACTGTCTTTCTGGAGGGCACTCCTGTATGGACAGCCTCCAGCAGGCACAGAGGCCTGGGGGCGGACCCCAGGGTCCCGGCCTGGCCCGCTGCCGCCCTGCTGGAGGGCCTCACAGATCTCTTGAACTTGTTGGCTCATCTCTAGGAAGATACTGGGGTATTTTCAATCGAGTCCAGCCATGGCTTTGTCTAGCAAGACGCTAAATGTTTTTTGACCAGAACCTGTAGTGGGAAATACATATATCATAGCCCCTGGCATGTGTGTGAAAAACTTTCACAATGCAGTACCCCCCCCCCCATCACATGGGGTGTATTGTGAGAATTTTTACTTTAGTCATGAGACCTCACATTCTCTCTGCTCTCCCTAAGAGGCCCTTAGAAGTTCTTAACAGCCCATCTTGGGCTGGGGGATTTTCTGTGGCCTTAAAGACCTGGAAAACATCCTCCACCGAGGGTATTTAGGATGAGTTCTTTAGTCCCTAGAGCGAGGCCCTTGGATTGTGAAGGGGAAGCCATGCAGAAGACCCTGACTTGACCTTCCCAGATTTCCGGGGGCCTTTCTTCCTAGGCTGCTCCAAACCTGTGTTCCTGCGAGTGGGGTATGGCACACAGGACTCATTCCACCTAGACTGTGGACCTAGCCCTTCTTGGCTGGACCCTCTTGCCACTCATGGGGCTGGGGCCATAAGAACAGGGTGTGGCCTTCAAAAAGGGGTCTGGGAAGACCCACCACCCCACAGGGTTTCTGTGGAGGGTCCTGCCCCATGCCAGCCTCCTTCCCTCACTTTGGGTTGAGGGGGTGGCCCCTCTCTAATTGTAGTCTCTGCCCCACCTAATCACAGTGCTCGGCCTCTCTGTGCCCTTGTCAGTTTGGGTCTTTCCCCTCCCCAAGAGTTCCAGAAGCCCCTGATAAGTGATACCAGACAGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGTGTGTACTACCACACCTAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCTGCCCGCTTCAGCCCGTCCAAGGTGCTGGGATTACAGATGTGAGCCATTGCTCCCAGCATTGCCATTTTTATCCGATTTAAACAAGTAGTCCTGGCCTGGCGTGGTGGCTCATTCCTGTATTCCCAGCACTTTGGGAGGCTGAGATGGGAGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCTTGAGCAACATAGCGAGATCCATCTCTACAAAAAATAAAAGAGTTAGCCAGGCATGGTGGAGCACACCTGTGGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGAAGTTGGCGGCTGCAGTGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGTAACAGAGCTAGACCCTGTCCTTCCTCCACAAAAACAGAGAAAAACAAAAAAGTGGTCCTTAACGACATGCTTTTAAAAATTACTTTTAGTTTTCCTTTTCATAAAAGCAATGTCTGTTTGCAGTAGAAACGTCAGGAAAGATGGAAAAGATAAAAACCACCATGACCCCATCCTGGTGACTTATGACCCTACGTCTAGAGTTAATGTTTTGGTTGAGGGAGTCTCATGACTGGCCTCTGGGCTCTTGTCTGACTTGCTGCATTGTCCCACAGGGAAGTCCCACCTGGCCATCGTGCAGAAGGTAAACAACGAGGGTGAGGGTGACCCCTTCTACGAGGTCCTGGACCTGGTCACCCTGGAGGACGTGATCGAGGAGATCATCAAGTCGGAGATCCTGGACGAGTCCGACATGTACAGTGAGTCCAGCCTTCCACAGGGCCCAGGACCCCTTTCCTGCTTGGATCGAAACTTGGTGTCCCTAGCTGGAAGGGCCATAGTGCAGGGACACAGGAGGCCTAGCATCCAGAGGCCCAGTGGCTGGGTGCCCTGCACTGGCCGGGGTGAGCAGGGAGCAGGTTGCTGAGAGCAGTGCCCGGAGGCTGCCTTCACCCTCGGCCTTTGTGCCTCGGCGTCAGCCCAGGACCCTGCCAGCCAGAGCCTGCTGCTCCTGCGTGGGACTAGGGGCTGGAGAGCAGGAGCTGCGGGGCGGGTTCCAGTCTCTTCCTAAGTCCTCAGGGGTCTGTGTTCTCAATTCCACGCTCTTCTTCCGGCAGCTGACAACCGAAGCCGGAAGCGGGTGTCTGAGAAGAACAAGCGTGACTTCTCTGCCTTCAAGGATGCGGACAATGAGCTCAAAGTGAAAATCTCCCCGCAGCTCCTCCTGGCCGCTCATCGCTTCCTAGCCACAGGTAGCATGAGGAGGACCTTCCGGTCTTGGTGGAAATACGGTCACGGGGGAGAAGTCCTGGGTTTCCGGCTGCTTTCCCCCCATAGGACGAGGGCTGCAGCAGGTGAGGGGTGCAGAGACAACACAGCCACCCCTGGAAGGGGCCGGGTATCTGCTCCACCCCTGGGGATCTCCCTGCGATTCATTTGCCATTAATGGGCGGCTACTGCAAACTTCTAGGAAGCATCCAAGTTACTATATTTAATAGTTTGGGAAATAATGACTAGGCACTATGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCATGAGCCCAGGAGTTCGAGACCAGCCTGAGCAACATGGCGAGACCCCATCTCTACAAAAAATACAAAAGCCAGGCATGGTGGTGCCCTCCTGTAGTCCCAGCTACTTGGGAGGCTATGAGGTGGGACAGTTGCATGTCTGTGGTCCCAGCTACTCAGGAGGCTGATGTGGGAGGACCGCTTGAGCCCAGGAGTTTGAAGCTGCAGTAAGTTGTGAATGCACCACTGCACTCAGCCTGGGCCACAGAACAAGATTCTGTCTCAAAAATAACAAAAAAGAAAATAACCACTGAGGTGGGCCCCTAGGCTGGCCAGGCCCATCAGGGCTTGTGGAATGGGAAGGAGAAGGGACGCTTCCCCTTCTGCAGGCCTGCTGGGTGTGGCTGGACCCCTCGTGTGCTCACCCACTCTGAGGAGCTTGCATCCAGCTCTGCTCTTACTCTCCAGCTCTCCCCTTTGCAGACGTGTGCTGGTTCCCGCAGGAATTCACTTCTAGTTCAGAGACATTTCTCTCTTTTCAGCCCTGATTCAAAGCTCCACTGGGGACTTGGGTGACAGGTTCTGCTCTGCCCGCTCTGTCCCCCTCTTCCCCTGGCCCAATTCATCTTCCTTCCCACCCCTTACTTGCTAAAGGGGTGGCAATTCCCTCTCCATTATTTTTCCTGTGGGATATTGATGCTGATGCAATAATTATAGTCTATATATTTTAGTATATATGGACAGCACATATATACTAAGTGCTGTCCATGTGCTATCCCATTCACCCTCACAACCACCCTGTGAAGCTTTTACCCCCATATTACAGATGAGGAAACTGAGATGCAGGTTAAGTAATTTGCCCAAGGTCATGTGCTGTTCTTGCAGGAGCCACTGTTCAAGCCCAGGCAGGCAGGCAGCCTTGTATCCAACCAGTCAGAAGCCAAGCGTGCTCCCTCCCCAGGGAGGTGCAGAACGAGGGCCGGCCGAGCAGGGCGGGAGTCGTCTGAGCACAGCGTGGCTGCTGTGGTTGGGGTGGAGGCACAGCAGTGATCGAGCTTTAGGGCCACCTGGCCAGCCCCGTGTGAGGTCTCTTCTCTCTCCTCCTACAGAGGTCTCTCAGTTTAGCCCCTCCCTGATATCAGAGAAGATCCTGCTGCGGCTACTCAAGTACCCAGATGTCATTC
Task1_train_3845
Here is a genetic alteration in CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Jalili syndrome
TTCCAAAATCCAAAAAAATCTGAAATCTGAAACACTTCTGATCCCCAGTGAGGAATAAGGGATACTCAGCCTGTCAAAGCTGCCTTGCTTTAATTCCCATCCCCATGTGGTGACATGGTTTAGCTAGATGCCCAGGCCCTTCCAGGCACTGTCTTTCTGGAGGGCACTCCTGTATGGACAGCCTCCAGCAGGCACAGAGGCCTGGGGGCGGACCCCAGGGTCCCGGCCTGGCCCGCTGCCGCCCTGCTGGAGGGCCTCACAGATCTCTTGAACTTGTTGGCTCATCTCTAGGAAGATACTGGGGTATTTTCAATCGAGTCCAGCCATGGCTTTGTCTAGCAAGACGCTAAATGTTTTTTGACCAGAACCTGTAGTGGGAAATACATATATCATAGCCCCTGGCATGTGTGTGAAAAACTTTCACAATGCAGTACCCCCCCCCCCATCACATGGGGTGTATTGTGAGAATTTTTACTTTAGTCATGAGACCTCACATTCTCTCTGCTCTCCCTAAGAGGCCCTTAGAAGTTCTTAACAGCCCATCTTGGGCTGGGGGATTTTCTGTGGCCTTAAAGACCTGGAAAACATCCTCCACCGAGGGTATTTAGGATGAGTTCTTTAGTCCCTAGAGCGAGGCCCTTGGATTGTGAAGGGGAAGCCATGCAGAAGACCCTGACTTGACCTTCCCAGATTTCCGGGGGCCTTTCTTCCTAGGCTGCTCCAAACCTGTGTTCCTGCGAGTGGGGTATGGCACACAGGACTCATTCCACCTAGACTGTGGACCTAGCCCTTCTTGGCTGGACCCTCTTGCCACTCATGGGGCTGGGGCCATAAGAACAGGGTGTGGCCTTCAAAAAGGGGTCTGGGAAGACCCACCACCCCACAGGGTTTCTGTGGAGGGTCCTGCCCCATGCCAGCCTCCTTCCCTCACTTTGGGTTGAGGGGGTGGCCCCTCTCTAATTGTAGTCTCTGCCCCACCTAATCACAGTGCTCGGCCTCTCTGTGCCCTTGTCAGTTTGGGTCTTTCCCCTCCCCAAGAGTTCCAGAAGCCCCTGATAAGTGATACCAGACAGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGTGTGTACTACCACACCTAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCTGCCCGCTTCAGCCCGTCCAAGGTGCTGGGATTACAGATGTGAGCCATTGCTCCCAGCATTGCCATTTTTATCCGATTTAAACAAGTAGTCCTGGCCTGGCGTGGTGGCTCATTCCTGTATTCCCAGCACTTTGGGAGGCTGAGATGGGAGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCTTGAGCAACATAGCGAGATCCATCTCTACAAAAAATAAAAGAGTTAGCCAGGCATGGTGGAGCACACCTGTGGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGAAGTTGGCGGCTGCAGTGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGTAACAGAGCTAGACCCTGTCCTTCCTCCACAAAAACAGAGAAAAACAAAAAAGTGGTCCTTAACGACATGCTTTTAAAAATTACTTTTAGTTTTCCTTTTCATAAAAGCAATGTCTGTTTGCAGTAGAAACGTCAGGAAAGATGGAAAAGATAAAAACCACCATGACCCCATCCTGGTGACTTATGACCCTACGTCTAGAGTTAATGTTTTGGTTGAGGGAGTCTCATGACTGGCCTCTGGGCTCTTGTCTGACTTGCTGCATTGTCCCACAGGGAAGTCCCACCTGGCCATCGTGCAGAAGGTAAACAACGAGGGTGAGGGTGACCCCTTCTACGAGGTCCTGGGCCTGGTCACCCTGGAGGACGTGATCGAGGAGATCATCAAGTCGGAGATCCTGGACGAGTCCGACATGTACAGTGAGTCCAGCCTTCCACAGGGCCCAGGACCCCTTTCCTGCTTGGATCGAAACTTGGTGTCCCTAGCTGGAAGGGCCATAGTGCAGGGACACAGGAGGCCTAGCATCCAGAGGCCCAGTGGCTGGGTGCCCTGCACTGGCCGGGGTGAGCAGGGAGCAGGTTGCTGAGAGCAGTGCCCGGAGGCTGCCTTCACCCTCGGCCTTTGTGCCTCGGCGTCAGCCCAGGACCCTGCCAGCCAGAGCCTGCTGCTCCTGCGTGGGACTAGGGGCTGGAGAGCAGGAGCTGCGGGGCGGGTTCCAGTCTCTTCCTAAGTCCTCAGGGGTCTGTGTTCTCAATTCCACGCTCTTCTTCCGGCAGCTGACAACCGAAGCCGGAAGCGGGTGTCTGAGAAGAACAAGCGTGACTTCTCTGCCTTCAAGGATGCGGACAATGAGCTCAAAGTGAAAATCTCCCCGCAGCTCCTCCTGGCCGCTCATCGCTTCCTAGCCACAGGTAGCATGAGGAGGACCTTCCGGTCTTGGTGGAAATACGGTCACGGGGGAGAAGTCCTGGGTTTCCGGCTGCTTTCCCCCCATAGGACGAGGGCTGCAGCAGGTGAGGGGTGCAGAGACAACACAGCCACCCCTGGAAGGGGCCGGGTATCTGCTCCACCCCTGGGGATCTCCCTGCGATTCATTTGCCATTAATGGGCGGCTACTGCAAACTTCTAGGAAGCATCCAAGTTACTATATTTAATAGTTTGGGAAATAATGACTAGGCACTATGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCATGAGCCCAGGAGTTCGAGACCAGCCTGAGCAACATGGCGAGACCCCATCTCTACAAAAAATACAAAAGCCAGGCATGGTGGTGCCCTCCTGTAGTCCCAGCTACTTGGGAGGCTATGAGGTGGGACAGTTGCATGTCTGTGGTCCCAGCTACTCAGGAGGCTGATGTGGGAGGACCGCTTGAGCCCAGGAGTTTGAAGCTGCAGTAAGTTGTGAATGCACCACTGCACTCAGCCTGGGCCACAGAACAAGATTCTGTCTCAAAAATAACAAAAAAGAAAATAACCACTGAGGTGGGCCCCTAGGCTGGCCAGGCCCATCAGGGCTTGTGGAATGGGAAGGAGAAGGGACGCTTCCCCTTCTGCAGGCCTGCTGGGTGTGGCTGGACCCCTCGTGTGCTCACCCACTCTGAGGAGCTTGCATCCAGCTCTGCTCTTACTCTCCAGCTCTCCCCTTTGCAGACGTGTGCTGGTTCCCGCAGGAATTCACTTCTAGTTCAGAGACATTTCTCTCTTTTCAGCCCTGATTCAAAGCTCCACTGGGGACTTGGGTGACAGGTTCTGCTCTGCCCGCTCTGTCCCCCTCTTCCCCTGGCCCAATTCATCTTCCTTCCCACCCCTTACTTGCTAAAGGGGTGGCAATTCCCTCTCCATTATTTTTCCTGTGGGATATTGATGCTGATGCAATAATTATAGTCTATATATTTTAGTATATATGGACAGCACATATATACTAAGTGCTGTCCATGTGCTATCCCATTCACCCTCACAACCACCCTGTGAAGCTTTTACCCCCATATTACAGATGAGGAAACTGAGATGCAGGTTAAGTAATTTGCCCAAGGTCATGTGCTGTTCTTGCAGGAGCCACTGTTCAAGCCCAGGCAGGCAGGCAGCCTTGTATCCAACCAGTCAGAAGCCAAGCGTGCTCCCTCCCCAGGGAGGTGCAGAACGAGGGCCGGCCGAGCAGGGCGGGAGTCGTCTGAGCACAGCGTGGCTGCTGTGGTTGGGGTGGAGGCACAGCAGTGATCGAGCTTTAGGGCCACCTGGCCAGCCCCGTGTGAGGTCTCTTCTCTCTCCTCCTACAGAGGTCTCTCAGTTTAGCCCCTCCCTGATATCAGAGAAGATCCTGCTGCGGCTACTCAAGTACCCAGATGTCATTCAGGAACTCAAGTTTGACGA
TTCCAAAATCCAAAAAAATCTGAAATCTGAAACACTTCTGATCCCCAGTGAGGAATAAGGGATACTCAGCCTGTCAAAGCTGCCTTGCTTTAATTCCCATCCCCATGTGGTGACATGGTTTAGCTAGATGCCCAGGCCCTTCCAGGCACTGTCTTTCTGGAGGGCACTCCTGTATGGACAGCCTCCAGCAGGCACAGAGGCCTGGGGGCGGACCCCAGGGTCCCGGCCTGGCCCGCTGCCGCCCTGCTGGAGGGCCTCACAGATCTCTTGAACTTGTTGGCTCATCTCTAGGAAGATACTGGGGTATTTTCAATCGAGTCCAGCCATGGCTTTGTCTAGCAAGACGCTAAATGTTTTTTGACCAGAACCTGTAGTGGGAAATACATATATCATAGCCCCTGGCATGTGTGTGAAAAACTTTCACAATGCAGTACCCCCCCCCCCATCACATGGGGTGTATTGTGAGAATTTTTACTTTAGTCATGAGACCTCACATTCTCTCTGCTCTCCCTAAGAGGCCCTTAGAAGTTCTTAACAGCCCATCTTGGGCTGGGGGATTTTCTGTGGCCTTAAAGACCTGGAAAACATCCTCCACCGAGGGTATTTAGGATGAGTTCTTTAGTCCCTAGAGCGAGGCCCTTGGATTGTGAAGGGGAAGCCATGCAGAAGACCCTGACTTGACCTTCCCAGATTTCCGGGGGCCTTTCTTCCTAGGCTGCTCCAAACCTGTGTTCCTGCGAGTGGGGTATGGCACACAGGACTCATTCCACCTAGACTGTGGACCTAGCCCTTCTTGGCTGGACCCTCTTGCCACTCATGGGGCTGGGGCCATAAGAACAGGGTGTGGCCTTCAAAAAGGGGTCTGGGAAGACCCACCACCCCACAGGGTTTCTGTGGAGGGTCCTGCCCCATGCCAGCCTCCTTCCCTCACTTTGGGTTGAGGGGGTGGCCCCTCTCTAATTGTAGTCTCTGCCCCACCTAATCACAGTGCTCGGCCTCTCTGTGCCCTTGTCAGTTTGGGTCTTTCCCCTCCCCAAGAGTTCCAGAAGCCCCTGATAAGTGATACCAGACAGGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGTGTGTACTACCACACCTAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCTGCCCGCTTCAGCCCGTCCAAGGTGCTGGGATTACAGATGTGAGCCATTGCTCCCAGCATTGCCATTTTTATCCGATTTAAACAAGTAGTCCTGGCCTGGCGTGGTGGCTCATTCCTGTATTCCCAGCACTTTGGGAGGCTGAGATGGGAGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCTTGAGCAACATAGCGAGATCCATCTCTACAAAAAATAAAAGAGTTAGCCAGGCATGGTGGAGCACACCTGTGGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGAAGTTGGCGGCTGCAGTGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGTAACAGAGCTAGACCCTGTCCTTCCTCCACAAAAACAGAGAAAAACAAAAAAGTGGTCCTTAACGACATGCTTTTAAAAATTACTTTTAGTTTTCCTTTTCATAAAAGCAATGTCTGTTTGCAGTAGAAACGTCAGGAAAGATGGAAAAGATAAAAACCACCATGACCCCATCCTGGTGACTTATGACCCTACGTCTAGAGTTAATGTTTTGGTTGAGGGAGTCTCATGACTGGCCTCTGGGCTCTTGTCTGACTTGCTGCATTGTCCCACAGGGAAGTCCCACCTGGCCATCGTGCAGAAGGTAAACAACGAGGGTGAGGGTGACCCCTTCTACGAGGTCCTGGGCCTGGTCACCCTGGAGGAAGTGATCGAGGAGATCATCAAGTCGGAGATCCTGGACGAGTCCGACATGTACAGTGAGTCCAGCCTTCCACAGGGCCCAGGACCCCTTTCCTGCTTGGATCGAAACTTGGTGTCCCTAGCTGGAAGGGCCATAGTGCAGGGACACAGGAGGCCTAGCATCCAGAGGCCCAGTGGCTGGGTGCCCTGCACTGGCCGGGGTGAGCAGGGAGCAGGTTGCTGAGAGCAGTGCCCGGAGGCTGCCTTCACCCTCGGCCTTTGTGCCTCGGCGTCAGCCCAGGACCCTGCCAGCCAGAGCCTGCTGCTCCTGCGTGGGACTAGGGGCTGGAGAGCAGGAGCTGCGGGGCGGGTTCCAGTCTCTTCCTAAGTCCTCAGGGGTCTGTGTTCTCAATTCCACGCTCTTCTTCCGGCAGCTGACAACCGAAGCCGGAAGCGGGTGTCTGAGAAGAACAAGCGTGACTTCTCTGCCTTCAAGGATGCGGACAATGAGCTCAAAGTGAAAATCTCCCCGCAGCTCCTCCTGGCCGCTCATCGCTTCCTAGCCACAGGTAGCATGAGGAGGACCTTCCGGTCTTGGTGGAAATACGGTCACGGGGGAGAAGTCCTGGGTTTCCGGCTGCTTTCCCCCCATAGGACGAGGGCTGCAGCAGGTGAGGGGTGCAGAGACAACACAGCCACCCCTGGAAGGGGCCGGGTATCTGCTCCACCCCTGGGGATCTCCCTGCGATTCATTTGCCATTAATGGGCGGCTACTGCAAACTTCTAGGAAGCATCCAAGTTACTATATTTAATAGTTTGGGAAATAATGACTAGGCACTATGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCATGAGCCCAGGAGTTCGAGACCAGCCTGAGCAACATGGCGAGACCCCATCTCTACAAAAAATACAAAAGCCAGGCATGGTGGTGCCCTCCTGTAGTCCCAGCTACTTGGGAGGCTATGAGGTGGGACAGTTGCATGTCTGTGGTCCCAGCTACTCAGGAGGCTGATGTGGGAGGACCGCTTGAGCCCAGGAGTTTGAAGCTGCAGTAAGTTGTGAATGCACCACTGCACTCAGCCTGGGCCACAGAACAAGATTCTGTCTCAAAAATAACAAAAAAGAAAATAACCACTGAGGTGGGCCCCTAGGCTGGCCAGGCCCATCAGGGCTTGTGGAATGGGAAGGAGAAGGGACGCTTCCCCTTCTGCAGGCCTGCTGGGTGTGGCTGGACCCCTCGTGTGCTCACCCACTCTGAGGAGCTTGCATCCAGCTCTGCTCTTACTCTCCAGCTCTCCCCTTTGCAGACGTGTGCTGGTTCCCGCAGGAATTCACTTCTAGTTCAGAGACATTTCTCTCTTTTCAGCCCTGATTCAAAGCTCCACTGGGGACTTGGGTGACAGGTTCTGCTCTGCCCGCTCTGTCCCCCTCTTCCCCTGGCCCAATTCATCTTCCTTCCCACCCCTTACTTGCTAAAGGGGTGGCAATTCCCTCTCCATTATTTTTCCTGTGGGATATTGATGCTGATGCAATAATTATAGTCTATATATTTTAGTATATATGGACAGCACATATATACTAAGTGCTGTCCATGTGCTATCCCATTCACCCTCACAACCACCCTGTGAAGCTTTTACCCCCATATTACAGATGAGGAAACTGAGATGCAGGTTAAGTAATTTGCCCAAGGTCATGTGCTGTTCTTGCAGGAGCCACTGTTCAAGCCCAGGCAGGCAGGCAGCCTTGTATCCAACCAGTCAGAAGCCAAGCGTGCTCCCTCCCCAGGGAGGTGCAGAACGAGGGCCGGCCGAGCAGGGCGGGAGTCGTCTGAGCACAGCGTGGCTGCTGTGGTTGGGGTGGAGGCACAGCAGTGATCGAGCTTTAGGGCCACCTGGCCAGCCCCGTGTGAGGTCTCTTCTCTCTCCTCCTACAGAGGTCTCTCAGTTTAGCCCCTCCCTGATATCAGAGAAGATCCTGCTGCGGCTACTCAAGTACCCAGATGTCATTCAGGAACTCAAGTTTGACGA
Task1_train_3846
Located on Chromosome 2, this mutation impacts ZAP70 (zeta chain of T cell receptor associated protein kinase 70). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Combined immunodeficiency
GGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTGCTGGTCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGATGACAGGCATGAGCCGTTGCACTCGGCCTCACATATTTTGAATGTTTGTGCTTTTTGTTGGTGATTTCAGTGGTTGACATGGCCCCCAACCATAGTGCTGAAATGCTATCTAGCATTCCTAAGGGCAAGAATGCTGTATGTGCCTTATGGAGAAAACATGTCAGATAAGCTTATAGTTATAGTGCTGTTGGCTAAGAGTTCAATGTTAGTGAATCAACCATGTCTATTAAATAAGGTGCCTTTAAACAGAAACTCACAAAAAAACAAGGTTATGTCTTGATCAGTTGATGAAAATGTAAACAGTTTCCTAGGAACCTAACTCTGTATTTCCCCTAGGAGGGATAGTTCTATATTGCTAATTCAGTGTTTTCGTTGACTTTATAGAACTGCAGAGAATGACAGAAATCAACTGTGTCTATCTGGCTGTCTATCCTTTTATCCATCCCTCTCGCTCTGTTCGTCCATCGGTCAGTGTTATTTTTGGGATGCTCTCAAATTAGATTACAGTCCTCAGTTCCCATCACTCCTAAACATTTCTGCAAGCAGATCGTTACCTAGGGTTCAATATTTTATGTTTCTTTTTTAATTGAGGGAGGGCAAATACAATGGAATGAACACATCTTAAGTGTACATTCTCTTAGTTTTCGGAAAATCAGACACTTGCATAACCCAAGCCCTGTGAATATACAGGACGTCACCATCACCCCAGAAAGTTGAGGGCAGGCAATTTTAAGTTATCTGCCTTACCAGATATCCATCTGTCTAAATAGCCTTAATTCCTCCTCCCCTCAATCACACGTTTTGTTTAATAGCTGTATCAGAGTTCACTTTGAGATTAAACCCTAATGCATTTAACCAGTCCCCTAGGGATGGATATTCCAATTAGCGTATGCTCTGTAGAAACTTGCCAAGGAAGGCAGAGGGCAGGGCGAGGGGTGCCTGCTAAGGCCGAGGGGAAAGGGTCAGCGGAAGGGACAAGGGAGGCTGAGGGGTAGGGCCCTTGGGTGAGCAAAGCTGGGTGCGGCCTCAGGGCCTCTGCGCATGCAGTCCTCTCTGCCTGATGCGCTGTCCCGCGCGCTTTTTGAAAAGTTGGCTCCTCCTCCTTCAGCTCTCCCTTCAAATGCTAGCTCCTTGGAGAAGGTGACCATCCTAGCTAGAGCCACCTCTTCTCTCTCTTAATGTCACTCCACTTATTTCCTTTGTAATGCTGACCTCAATCTGTAATTATTATTTTTGTTTCTTTCTCAGTTTATCTCACGGCTCTCCCTCCTTAGAGTGTTGCCTTCGGGAGGACGGGGTGGGACCGCGCCTGCCTCAAGCGTGCATATCCCCAGCACCGGGCCTGAAACACAATAATTCAGCACGTGGTTGGGACATGAAGAGATGGGTACAGGTGTGGGTGCTTGGGGACCAGTTGGCGTGCTTGGGCGTCCACATAATGTCTCTGGAAAGTCAGATGGGGGTTTGGGACTTCTCGATCTGTGCCCAGCAGGCTGCGGCTTCTCTCCAGGTTGACTCTGGCACAGAGCAGGCTCTGCCCCCTTGGCGAGCTCAGTCTGCGGCACTGATGCCCTCCACTTGGCGTCTCTCGCGCCGTCTTTGGGCCCAACGCACCAGGTTCAGGAAGGCCCTGACGTGCCTCCGACCCTCTGTGAACCCGCAGGTTTCGGGAGGCCCAGGGGCGATGCCAGACCCCGCGGCGCACCTGCCCTTCTTCTACGGCAGCATCTCGCGTGCCGAGGCCGAGGAGCACCTGAAGCTGGCGGGCATGGCGGACGGGCTCTTCCTGCTGCGCCAGTGCCTGCGCTCGCTGGGCGGCTATGTGCTGTCGCTCGTGCACGATGTGCGCTTCCACCACTTTCCCATCGAGCGCCAGCTCAACGGCACCTACGCCATTGCCGGCGGCAAAGCGCACTGTGGACCGGCAGAGCTCTGCGAGTTCTACTCGCGCGACCCCGACGGGCTGCCCTGCAACCTGCGCAAGCCGTGCAACCGGCCGTCGGGCCTCGAGCCGCAGCCGGGGGTCTTCGACTGCCTGCGAGACGCCATGGTGCGTGACTACGTGCGCCAGACGTGGAAGCTGGAGGTGAGAGCGCAGCCTGGGGCGCGGGGTCTGGAGGGGCGTGGCCGAAGAGGGGCAGTCGAGGGTTTTGGGGGGATAGGAGGGAGGAAAAGGTCGTCTTCCCCATTCAGTCCCCTTTGGAAGCTGGAGAGGTGGGGCACTGGTTGGGGAAGAACCTGAAAGGAGGCCTCAGAGGCAGGGGCTCCGTGGTGGCGGTCGCCTTCCGCAGGCTGAGCGATGCTATGGTGCTCTACTATGCCAGATGGGAAGGTAGAGGGACGCACTGGGCCGGGCGAAGGCGAGGCTTGGAATGGGGGCGGGGCTGAGAGGAGGGTGCGCGGGGCTAGGGTGAGCCCTTAGGGTAGGGTGGCTGTTGGGGAAGATGGGCAGTAGTCGTCCACAGCCTGAGTGACACCACCATGCACAACTACCTGAATTAGGTCTTCAAGCTGGAGATGCGCTTGGGGCCGCGCTGGAAGGTGGGGGTGGTTCCTCCCTAGCTGGATTGGGGAGGGGACCACGGAGATGGCGCGGAGGTAGTCCTCGAAAACCTGCCTAACACGCGCTAGGGACGCCTGGGTGGGGTGGGGAGTCCTCTGGGACAGGGCTCCCGGAAGGGGGTTCCTGTGGCGAGCACTTGGCCACACCTACAGACCTCCTCGCCTCTCCTTTTCTAGGGCGAGGCCCTGGAGCAGGCCATCATCAGCCAGGCCCCGCAGGTGGAGAAGCTCATTGCTACGACGGCCCACGAGCGGATGCCCTGGTACCACAGCAGCCTGACGCGTGAGGAGGCCGAGCGCAAACTTTACTCTGGGGCGCAGACCGACGGCAAGTTCCTGTATGTGGGGCCCGGGATTTGGGTGCGGTGAGGATTGGGGCTCGTTGGCAGGGATCCTGGGGACTGGGGCAGACGTGAGTGTGCAGTTGGGCCGTAAGGGTGTCCCTGTGCTCACATGTGCAAGTGGGTTGTGTGTTTCTGATGTGCAAAGGGACTTGCACATGGGGAAGTAGAGGTAGTGACTAGGAAAGCCTCCAGACTCGGTCCCTTGGCCTGGCTTGGAATCCCGCTTCCGCCACCTGCTGGCTGTGGCCCTTGGGCAAGTAGCGGACTGTGGTTGCCTGCCTCAGTTTCCCCTCCTTCAATCAACAAATATTTACTGAATACCTACTGTGTACCAGGCACTGAGCACACGGCAGTGAGCCAAAAAGACACAGTGCCTGTCCTCATGGGGCAGGTAGACAAGAAAAGGAATCAATAAAATAGAGACCCTGTCAGATGGTGGTAAGCGCCGTGTGTGCAGGTGGGGAGGCGGTTGCAATTTTAGATTAGGTGGTCAGAAGAGGCCTTCCTGAGAAGGTGACTTCTGAGGAAGGGAAAGAAGCTGAGGAGTGAGCTGTGCAGCTTTCAGGGGGAAGGGTGTTCCTGGAAAATGCAATGGCAAGTGCAAAGATCAGGAGGCAGGAGTCTATTTGGCGTGTTCCAGAAACATTGTGGAGGCCATGTGCCTGGAGCTGAGTAAGTGAGGGGGAGAATGGGAGGAGGTGAGGGCAGGGCGGGGACTTTAGCTTTTCCCCCAAGTGAGGTGGGATCCCCGGGAGAGTGTTGAAGCAGCCCCCTCTAACTGTCCTGTGGTTGACAGCAGTACCTCCCCTCAGGATCCTCTATGAGGATTACATGAATTAATACGTGTGAATCGAGAGTATGGTAACTGACATAGGAAAAATGCGGTAAATGTTAGCTTTTATATGTGGGTGAACGTGCGTGTCTGAGCCACAGCTGAGGCCATGTAGCTATTTGTGAGTTTGTTAATGTGAAAAAAATCTCTGAAAATCTCTTTTTAAAACTCTGCTGAGTGTTTGACAGCCCTGCTGGGGCTGTTGCTCTCTGGTTTGGACACGGGATCTTTTCTGTAACAGATGGTATCCAGGTGCAGCTGAGGTCACTCAGGCCT
GGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTGCTGGTCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGATGACAGGCATGAGCCGTTGCACTCGGCCTCACATATTTTGAATGTTTGTGCTTTTTGTTGGTGATTTCAGTGGTTGACATGGCCCCCAACCATAGTGCTGAAATGCTATCTAGCATTCCTAAGGGCAAGAATGCTGTATGTGCCTTATGGAGAAAACATGTCAGATAAGCTTATAGTTATAGTGCTGTTGGCTAAGAGTTCAATGTTAGTGAATCAACCATGTCTATTAAATAAGGTGCCTTTAAACAGAAACTCACAAAAAAACAAGGTTATGTCTTGATCAGTTGATGAAAATGTAAACAGTTTCCTAGGAACCTAACTCTGTATTTCCCCTAGGAGGGATAGTTCTATATTGCTAATTCAGTGTTTTCGTTGACTTTATAGAACTGCAGAGAATGACAGAAATCAACTGTGTCTATCTGGCTGTCTATCCTTTTATCCATCCCTCTCGCTCTGTTCGTCCATCGGTCAGTGTTATTTTTGGGATGCTCTCAAATTAGATTACAGTCCTCAGTTCCCATCACTCCTAAACATTTCTGCAAGCAGATCGTTACCTAGGGTTCAATATTTTATGTTTCTTTTTTAATTGAGGGAGGGCAAATACAATGGAATGAACACATCTTAAGTGTACATTCTCTTAGTTTTCGGAAAATCAGACACTTGCATAACCCAAGCCCTGTGAATATACAGGACGTCACCATCACCCCAGAAAGTTGAGGGCAGGCAATTTTAAGTTATCTGCCTTACCAGATATCCATCTGTCTAAATAGCCTTAATTCCTCCTCCCCTCAATCACACGTTTTGTTTAATAGCTGTATCAGAGTTCACTTTGAGATTAAACCCTAATGCATTTAACCAGTCCCCTAGGGATGGATATTCCAATTAGCGTATGCTCTGTAGAAACTTGCCAAGGAAGGCAGAGGGCAGGGCGAGGGGTGCCTGCTAAGGCCGAGGGGAAAGGGTCAGCGGAAGGGACAAGGGAGGCTGAGGGGTAGGGCCCTTGGGTGAGCAAAGCTGGGTGCGGCCTCAGGGCCTCTGCGCATGCAGTCCTCTCTGCCTGATGCGCTGTCCCGCGCGCTTTTTGAAAAGTTGGCTCCTCCTCCTTCAGCTCTCCCTTCAAATGCTAGCTCCTTGGAGAAGGTGACCATCCTAGCTAGAGCCACCTCTTCTCTCTCTTAATGTCACTCCACTTATTTCCTTTGTAATGCTGACCTCAATCTGTAATTATTATTTTTGTTTCTTTCTCAGTTTATCTCACGGCTCTCCCTCCTTAGAGTGTTGCCTTCGGGAGGACGGGGTGGGACCGCGCCTGCCTCAAGCGTGCATATCCCCAGCACCGGGCCTGAAACACAATAATTCAGCACGTGGTTGGGACATGAAGAGATGGGTACAGGTGTGGGTGCTTGGGGACCAGTTGGCGTGCTTGGGCGTCCACATAATGTCTCTGGAAAGTCAGATGGGGGTTTGGGACTTCTCGATCTGTGCCCAGCAGGCTGCGGCTTCTCTCCAGGTTGACTCTGGCACAGAGCAGGCTCTGCCCCCTTGGCGAGCTCAGTCTGCGGCACTGATGCCCTCCACTTGGCGTCTCTCGCGCCGTCTTTGGGCCCAACGCACCAGGTTCAGGAAGGCCCTGACGTGCCTCCGACCCTCTGTGAACCCGCAGGTTTCGGGAGGCCCAGGGGCGATGCCAGACCCCGCGGCGCACCTGCCCTTCTTCTACGGCAGCATCTCGCGTGCCGAGGCCGAGGAGCACCTGAAGCTGGCGGGCATGGCGGACGGGCTCTTCCTGCTGCGCCAGTGCCTGCGCTCGCTGGGCGGCTATGTGCTGTCGCTCGTGCACGATGTGCGCTTCCACCACTTTCCCATCGAGCGCCAGCTCAACGGCACCTACGCCATTGCCGGCGGCAAAGCGCACTGTGGACCGGCAGAGCTCTGCGAGTTCTACTCGCGCGACCCCGACGGGCTGTCCTGCAACCTGCGCAAGCCGTGCAACCGGCCGTCGGGCCTCGAGCCGCAGCCGGGGGTCTTCGACTGCCTGCGAGACGCCATGGTGCGTGACTACGTGCGCCAGACGTGGAAGCTGGAGGTGAGAGCGCAGCCTGGGGCGCGGGGTCTGGAGGGGCGTGGCCGAAGAGGGGCAGTCGAGGGTTTTGGGGGGATAGGAGGGAGGAAAAGGTCGTCTTCCCCATTCAGTCCCCTTTGGAAGCTGGAGAGGTGGGGCACTGGTTGGGGAAGAACCTGAAAGGAGGCCTCAGAGGCAGGGGCTCCGTGGTGGCGGTCGCCTTCCGCAGGCTGAGCGATGCTATGGTGCTCTACTATGCCAGATGGGAAGGTAGAGGGACGCACTGGGCCGGGCGAAGGCGAGGCTTGGAATGGGGGCGGGGCTGAGAGGAGGGTGCGCGGGGCTAGGGTGAGCCCTTAGGGTAGGGTGGCTGTTGGGGAAGATGGGCAGTAGTCGTCCACAGCCTGAGTGACACCACCATGCACAACTACCTGAATTAGGTCTTCAAGCTGGAGATGCGCTTGGGGCCGCGCTGGAAGGTGGGGGTGGTTCCTCCCTAGCTGGATTGGGGAGGGGACCACGGAGATGGCGCGGAGGTAGTCCTCGAAAACCTGCCTAACACGCGCTAGGGACGCCTGGGTGGGGTGGGGAGTCCTCTGGGACAGGGCTCCCGGAAGGGGGTTCCTGTGGCGAGCACTTGGCCACACCTACAGACCTCCTCGCCTCTCCTTTTCTAGGGCGAGGCCCTGGAGCAGGCCATCATCAGCCAGGCCCCGCAGGTGGAGAAGCTCATTGCTACGACGGCCCACGAGCGGATGCCCTGGTACCACAGCAGCCTGACGCGTGAGGAGGCCGAGCGCAAACTTTACTCTGGGGCGCAGACCGACGGCAAGTTCCTGTATGTGGGGCCCGGGATTTGGGTGCGGTGAGGATTGGGGCTCGTTGGCAGGGATCCTGGGGACTGGGGCAGACGTGAGTGTGCAGTTGGGCCGTAAGGGTGTCCCTGTGCTCACATGTGCAAGTGGGTTGTGTGTTTCTGATGTGCAAAGGGACTTGCACATGGGGAAGTAGAGGTAGTGACTAGGAAAGCCTCCAGACTCGGTCCCTTGGCCTGGCTTGGAATCCCGCTTCCGCCACCTGCTGGCTGTGGCCCTTGGGCAAGTAGCGGACTGTGGTTGCCTGCCTCAGTTTCCCCTCCTTCAATCAACAAATATTTACTGAATACCTACTGTGTACCAGGCACTGAGCACACGGCAGTGAGCCAAAAAGACACAGTGCCTGTCCTCATGGGGCAGGTAGACAAGAAAAGGAATCAATAAAATAGAGACCCTGTCAGATGGTGGTAAGCGCCGTGTGTGCAGGTGGGGAGGCGGTTGCAATTTTAGATTAGGTGGTCAGAAGAGGCCTTCCTGAGAAGGTGACTTCTGAGGAAGGGAAAGAAGCTGAGGAGTGAGCTGTGCAGCTTTCAGGGGGAAGGGTGTTCCTGGAAAATGCAATGGCAAGTGCAAAGATCAGGAGGCAGGAGTCTATTTGGCGTGTTCCAGAAACATTGTGGAGGCCATGTGCCTGGAGCTGAGTAAGTGAGGGGGAGAATGGGAGGAGGTGAGGGCAGGGCGGGGACTTTAGCTTTTCCCCCAAGTGAGGTGGGATCCCCGGGAGAGTGTTGAAGCAGCCCCCTCTAACTGTCCTGTGGTTGACAGCAGTACCTCCCCTCAGGATCCTCTATGAGGATTACATGAATTAATACGTGTGAATCGAGAGTATGGTAACTGACATAGGAAAAATGCGGTAAATGTTAGCTTTTATATGTGGGTGAACGTGCGTGTCTGAGCCACAGCTGAGGCCATGTAGCTATTTGTGAGTTTGTTAATGTGAAAAAAATCTCTGAAAATCTCTTTTTAAAACTCTGCTGAGTGTTTGACAGCCCTGCTGGGGCTGTTGCTCTCTGGTTTGGACACGGGATCTTTTCTGTAACAGATGGTATCCAGGTGCAGCTGAGGTCACTCAGGCCT
Task1_train_3847
This mutation is located in gene ZAP70 (zeta chain of T cell receptor associated protein kinase 70) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Combined immunodeficiency
TCCTGGGAACACAGCCATGGCCCCTCCACCGCCCTCTGCCACTTGGCCCATCATCAGCAGATCTGGAGGTGATGGGGGCCTGGCCTGGCTTCCCCAGTCCCTGCAGCTTCTCTGCAAGGCTCTGAGGTGTGGAGCCCATAGGGTGTGTTGCGGGGGAACCGGGGCACAGCAGGAGGCCCCCAGGTGGCTCTAGGGGTTACATCCCCTCCCTTCCCCTGCCAGGCTGAGGCCGCGGAAGGAGCAGGGCACATACGCCCTGTCCCTCATCTATGGGAAGACGGTGTACCACTACCTCATCAGCCAAGACAAGGCGGGCAAGTACTGCATTCCCGAGGGCACCAAGTTTGACACGCTCTGGCAGGTAGGCTGCCCGTGCAACTTGTTCTGGGAGATGCCGTGCTCAGATGGGGTGCCGGGCTCTGGGGAGGAGAGGAGCCTCTCTGCTAGCTGCCTGCTCCCTGCAGCTGGTGGAGTATCTGAAGCTGAAGGCGGACGGGCTCATCTACTGCCTGAAGGAGGCCTGCCCCAACAGCAGTGCCAGCAACGCCTCAGGTGACGGCAGCAGGCGGGCGGGCGGTGGGCGGGGGCGGCAGGAGACCTGGCCCCCAGCCCTCACTGTCCCTTCTGCTCCCCCAGGGGCTGCTGCTCCCACACTCCCAGCCCACCCATCCACGTTGACTCATGTGAGTTGGGGGCACCTGGAGTGTGGCCTTGGGGATGGAGCTGGGGAGTGGCTGTGGGGGAGGCTGGGATGGAGGCTGGGGTGCCTGTGGAGCGGAAGAAGCTCTCTCTCCACTGTCTCTGGGAGTCCTCAGTGGATATAGGTCTCATGAGAGGGGCTGGACGTCCCCAGCTCAGGCCTTGCTGACCCTGTGGCCTTTAGCCTCAGAGACGAATCGACACCCTCAACTCAGATGGATACACCCCTGAGCCAGGTGAGCGGGCAGAGGTGGGGACGCGGGTTGGGGCTCATGCTGAGCCGAGATCAGGGTCGCTGTCAGGGCTGTGGGGTTTCACGGGGGGCGCTGTGGGCCGGGCCAGGCTGTGGCAGTTGGCTTGGTTAACACCTGTGCACACATGTGCCCACACCCATCACACCTGCCTGTGCACATGTACGTCCCAGTGTGTACTGACGTGCAGGGAGCACACTTGGCCTTGCCTGAGGCTCCCCAGACACACGTTTGTTGAGTACCTACTATGTGTCAGTCACGTTCCGAGGTCACTGTGTGTATGAGCCACCGAACCCTCCTGACATGCCTTATGAAGTGGCTATGGTGATTAACCTCACTTTACAGATGAGAGAGGGAGGGGTCTGTCTATGGGGATGTGAGGCAGTGGTAGAGGCGGGATGTGAACCCACGATGGGCCCCAGAGCTCACATTCCTAAAATGGTCTGCTGCGGGTGCTCCTGTTTCTCATGGGTGGGCCCAGACCTGAACATGTGTATGCACAGAGAAGACACATAGTTACATGTGCACCTAGAGGCTCGCTTTTGGAGGCCTCGTAAATGTGGCTGTGTGCTGCATACGCAGACAGGGACGGGCCCGGCCATAGGCGTACACGTACGAATGCACACACATGCACACCCCAGCTGGCACAGTAACGGTGCCACGTGGATACCAATGCACACGCCCCTAGAGTCCACCCTCATGTGGCTTCATGGGGCACCCACAGCTGTGGCCAGGAGTGTATGCCAGTGTGTGCGTGTGGATGTGCAGGAACACGCATGGGCACCCACCTGCTTGTGCATGCTCCAGGGACGGCACCCTTGTCTGGGGCAGGTGCTTGTGGGGGCTGAGGCTGCCTTGCTCCCCACACCCCTGCCCCTGACCTGGGAGTGTACCGCTGTGTGTGCCCAGCACGCATAACGTCCCCAGACAAACCGCGGCCGATGCCCATGGACACGAGCGTGTATGAGAGCCCCTACAGCGACCCAGAGGAGCTCAAGGACAAGAAGCTCTTCCTGAAGCGCGATAACCTCCTCATAGCTGACATTGAACTTGGCTGCGGCAACTTTGGCTCAGTGCGCCAGGGCGTGTACCGCATGCGCAAGTATGGCCGCCCCTGCCGTGGTGGGAGCACCGCCGCCTGGGGCAGAGGGGAGTGGCTTCACCGGGCTGTGGGACGGGAGCCGGGATGTCTGTCTCACAGCAGTTTGCCTGGGAAACAGACTCTGGGGCAGGACGTTGCACGCTGGAGGATTCCCTGAGAGAGCTCGGGACACCTGACGGGGGTGGGATGGGGCCTGGGCAGGGGGAGGCTGTGGAGCTGAAGTTCCCAACCCAGGGGAGCTGCAGTGGGGTCCCCGATCCCTGAGTCCACTGGCCCCTGACAGGCTGCCCCTGGGGAGGGTGTCACTTTGGATTCTTTTTGGCGATGGGCTGTTCCCGGTGAGCGATCCGGCTGTGAGCCGTCCTCAGCAGACGCTCCAGGCTGCAGGGACATTGAGCGCCTTGGTCCCAGCCTGGGTGGCGACTACAGTTGTCTACCACACAACTCAAGGGAGAAGAGAGATGGGTGGGTGGGGGTGTGGGGCCGAGCAGGGCCGGTGCCCCTCGCCCACGTGCCTCCCGTGGCCGGGTCGGGCAGGAAGCAGATCGACGTGGCCATCAAGGTGCTGAAGCAGGGCACGGAGAAGGCAGACACGGAAGAGATGATGCGCGAGGCGCAGATCATGCACCAGCTGGACAACCCCTACATCGTGCGGCTCATTGGCGTCTGCCAGGCCGAGGCCCTCATGCTGGTCATGGAGATGGCTGGGGGCGGGCCGCTGCACAAGTTCCTGGTCGGCAAGAGGTGAGCACCGGGTGGGCCCGGCCATCGGGTGGGTGGGGCCGGGGCCCATCCTGGGCATGGTGGACATGCACCCGCGTGCATGCGTGTGTGGGAAGCCGGGGCACTTCCACACCATCGTGGACACACTCTCAGCCTGCACACCCACACCCATACCCATGCCTGCAAAGCAGAGCTAACCCTCAGTCCACCATTGCACCAGTGCGGTAATAACAGTGTCTACCTCCAGGGCCTTTGCGAGGATCGAATGAGTCGGCACCTATAAAGGGCACTGCTAGGGCCGGGTGCGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATGAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAACCCCGTCCTTACTAAAAATACAAAAGATTAGCTGGGCGTGGTGGTGGGCGCCTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGGACAGAGCGAAACTCCATCTCAAAAAAATAAATAAATAAAAATAAATAAAGGGCACTGCTAGTAAGAGCTTTGTACACATCAGCTGCTCCCCAGACTCCCTGGGCCAAATTCATGGCCCCTGGGAAAGTGCCCATTGCCAGTTATCTGGAACCTGCCCTTTGTTTACGTGCTGCGTGGTTTTCTATTTTTAATTTTTTTTTTTTTAAAGAAACAAAAACGAAGATGTGACAGAGATCACTTGTGGCCTGTAAAGGCTAAAATCCTTACTATCCGGCCCTTTACTGAAAAGTTTTGCAGTTTCATTTGTGGTTCCTCATCCCCAAACTCTTACCCTCACAGACACAAGTTCTGCACTCCCCAAGGCACGTTTTTGCTGATCTGTGCCCTCTGGCTGGTGCACACACCTTCCCAGTGTGCCCCTGGCTCCCACATTCAGTCATTTGACAGGTGTTTATTGGACAGTTTCTCAGTGACAGGAACTGTTAGTAGCACTTGGGATTCATTAGCGAATAAACAAGGCAGAGATCCATGCTCTGTATTCTGGTTGGAGAAGAGAGACAGTAAGTAACAATCCTGATGAAATCTAGAGCATGTGGGAAGATAGTGTGGTGGGCACAAGCCTGCCGCAGCTCCAGGGGGTTGGGAGTGTTGGGGTGCGAGGTGCAGTGAGCAGGGAGGTTTGAACAAACTGAGGGAGGCCGCCATGCCCAGACGTGGGGAAGGGCATTCCAGGCAAAGGGCACCGCCTGTGCAGAGGCCCTGAGGTGGTC
TCCTGGGAACACAGCCATGGCCCCTCCACCGCCCTCTGCCACTTGGCCCATCATCAGCAGATCTGGAGGTGATGGGGGCCTGGCCTGGCTTCCCCAGTCCCTGCAGCTTCTCTGCAAGGCTCTGAGGTGTGGAGCCCATAGGGTGTGTTGCGGGGGAACCGGGGCACAGCAGGAGGCCCCCAGGTGGCTCTAGGGGTTACATCCCCTCCCTTCCCCTGCCAGGCTGAGGCCGCGGAAGGAGCAGGGCACATACGCCCTGTCCCTCATCTATGGGAAGACGGTGTACCACTACCTCATCAGCCAAGACAAGGCGGGCAAGTACTGCATTCCCGAGGGCACCAAGTTTGACACGCTCTGGCAGGTAGGCTGCCCGTGCAACTTGTTCTGGGAGATGCCGTGCTCAGATGGGGTGCCGGGCTCTGGGGAGGAGAGGAGCCTCTCTGCTAGCTGCCTGCTCCCTGCAGCTGGTGGAGTATCTGAAGCTGAAGGCGGACGGGCTCATCTACTGCCTGAAGGAGGCCTGCCCCAACAGCAGTGCCAGCAACGCCTCAGGTGACGGCAGCAGGCGGGCGGGCGGTGGGCGGGGGCGGCAGGAGACCTGGCCCCCAGCCCTCACTGTCCCTTCTGCTCCCCCAGGGGCTGCTGCTCCCACACTCCCAGCCCACCCATCCACGTTGACTCATGTGAGTTGGGGGCACCTGGAGTGTGGCCTTGGGGATGGAGCTGGGGAGTGGCTGTGGGGGAGGCTGGGATGGAGGCTGGGGTGCCTGTGGAGCGGAAGAAGCTCTCTCTCCACTGTCTCTGGGAGTCCTCAGTGGATATAGGTCTCATGAGAGGGGCTGGACGTCCCCAGCTCAGGCCTTGCTGACCCTGTGGCCTTTAGCCTCAGAGACGAATCGACACCCTCAACTCAGATGGATACACCCCTGAGCCAGGTGAGCGGGCAGAGGTGGGGACGCGGGTTGGGGCTCATGCTGAGCCGAGATCAGGGTCGCTGTCAGGGCTGTGGGGTTTCACGGGGGGCGCTGTGGGCCGGGCCAGGCTGTGGCAGTTGGCTTGGTTAACACCTGTGCACACATGTGCCCACACCCATCACACCTGCCTGTGCACATGTACGTCCCAGTGTGTACTGACGTGCAGGGAGCACACTTGGCCTTGCCTGAGGCTCCCCAGACACACGTTTGTTGAGTACCTACTATGTGTCAGTCACGTTCCGAGGTCACTGTGTGTATGAGCCACCGAACCCTCCTGACATGCCTTATGAAGTGGCTATGGTGATTAACCTCACTTTACAGATGAGAGAGGGAGGGGTCTGTCTATGGGGATGTGAGGCAGTGGTAGAGGCGGGATGTGAACCCACGATGGGCCCCAGAGCTCACATTCCTAAAATGGTCTGCTGCGGGTGCTCCTGTTTCTCATGGGTGGGCCCAGACCTGAACATGTGTATGCACAGAGAAGACACATAGTTACATGTGCACCTAGAGGCTCGCTTTTGGAGGCCTCGTAAATGTGGCTGTGTGCTGCATACGCAGACAGGGACGGGCCCGGCCATAGGCGTACACGTACGAATGCACACACATGCACACCCCAGCTGGCACAGTAACGGTGCCACGTGGATACCAATGCACACGCCCCTAGAGTCCACCCTCATGTGGCTTCATGGGGCACCCACAGCTGTGGCCAGGAGTGTATGCCAGTGTGTGCGTGTGGATGTGCAGGAACACGCATGGGCACCCACCTGCTTGTGCATGCTCCAGGGACGGCACCCTTGTCTGGGGCAGGTGCTTGTGGGGGCTGAGGCTGCCTTGCTCCCCACACCCCTGCCCCTGACCTGGGAGTGTACCGCTGTGTGTGCCCAGCACGCATAACGTCCCCAGACAAACCGCGGCCGATGCCCATGGACACGAGCGTGTATGAGAGCCCCTACAGCGACCCAGAGGAGCTCAAGGACAAGAAGCTCTTCCTGAAGCGCGATAACCTCCTCATAGCTGACATTGAACTTGGCTGCGGCAACTTTGGCTCAGTGCGCCAGGGCGTGTACCGCATGCCCAAGTATGGCCGCCCCTGCCGTGGTGGGAGCACCGCCGCCTGGGGCAGAGGGGAGTGGCTTCACCGGGCTGTGGGACGGGAGCCGGGATGTCTGTCTCACAGCAGTTTGCCTGGGAAACAGACTCTGGGGCAGGACGTTGCACGCTGGAGGATTCCCTGAGAGAGCTCGGGACACCTGACGGGGGTGGGATGGGGCCTGGGCAGGGGGAGGCTGTGGAGCTGAAGTTCCCAACCCAGGGGAGCTGCAGTGGGGTCCCCGATCCCTGAGTCCACTGGCCCCTGACAGGCTGCCCCTGGGGAGGGTGTCACTTTGGATTCTTTTTGGCGATGGGCTGTTCCCGGTGAGCGATCCGGCTGTGAGCCGTCCTCAGCAGACGCTCCAGGCTGCAGGGACATTGAGCGCCTTGGTCCCAGCCTGGGTGGCGACTACAGTTGTCTACCACACAACTCAAGGGAGAAGAGAGATGGGTGGGTGGGGGTGTGGGGCCGAGCAGGGCCGGTGCCCCTCGCCCACGTGCCTCCCGTGGCCGGGTCGGGCAGGAAGCAGATCGACGTGGCCATCAAGGTGCTGAAGCAGGGCACGGAGAAGGCAGACACGGAAGAGATGATGCGCGAGGCGCAGATCATGCACCAGCTGGACAACCCCTACATCGTGCGGCTCATTGGCGTCTGCCAGGCCGAGGCCCTCATGCTGGTCATGGAGATGGCTGGGGGCGGGCCGCTGCACAAGTTCCTGGTCGGCAAGAGGTGAGCACCGGGTGGGCCCGGCCATCGGGTGGGTGGGGCCGGGGCCCATCCTGGGCATGGTGGACATGCACCCGCGTGCATGCGTGTGTGGGAAGCCGGGGCACTTCCACACCATCGTGGACACACTCTCAGCCTGCACACCCACACCCATACCCATGCCTGCAAAGCAGAGCTAACCCTCAGTCCACCATTGCACCAGTGCGGTAATAACAGTGTCTACCTCCAGGGCCTTTGCGAGGATCGAATGAGTCGGCACCTATAAAGGGCACTGCTAGGGCCGGGTGCGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATGAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAACCCCGTCCTTACTAAAAATACAAAAGATTAGCTGGGCGTGGTGGTGGGCGCCTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGGACAGAGCGAAACTCCATCTCAAAAAAATAAATAAATAAAAATAAATAAAGGGCACTGCTAGTAAGAGCTTTGTACACATCAGCTGCTCCCCAGACTCCCTGGGCCAAATTCATGGCCCCTGGGAAAGTGCCCATTGCCAGTTATCTGGAACCTGCCCTTTGTTTACGTGCTGCGTGGTTTTCTATTTTTAATTTTTTTTTTTTTAAAGAAACAAAAACGAAGATGTGACAGAGATCACTTGTGGCCTGTAAAGGCTAAAATCCTTACTATCCGGCCCTTTACTGAAAAGTTTTGCAGTTTCATTTGTGGTTCCTCATCCCCAAACTCTTACCCTCACAGACACAAGTTCTGCACTCCCCAAGGCACGTTTTTGCTGATCTGTGCCCTCTGGCTGGTGCACACACCTTCCCAGTGTGCCCCTGGCTCCCACATTCAGTCATTTGACAGGTGTTTATTGGACAGTTTCTCAGTGACAGGAACTGTTAGTAGCACTTGGGATTCATTAGCGAATAAACAAGGCAGAGATCCATGCTCTGTATTCTGGTTGGAGAAGAGAGACAGTAAGTAACAATCCTGATGAAATCTAGAGCATGTGGGAAGATAGTGTGGTGGGCACAAGCCTGCCGCAGCTCCAGGGGGTTGGGAGTGTTGGGGTGCGAGGTGCAGTGAGCAGGGAGGTTTGAACAAACTGAGGGAGGCCGCCATGCCCAGACGTGGGGAAGGGCATTCCAGGCAAAGGGCACCGCCTGTGCAGAGGCCCTGAGGTGGTC
Task1_train_3848
A variant found in Chromosome 2 affects ZAP70 (zeta chain of T cell receptor associated protein kinase 70). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Combined immunodeficiency due to ZAP70 deficiency
AAGGCGGGTGGATCATGAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAACCCCGTCCTTACTAAAAATACAAAAGATTAGCTGGGCGTGGTGGTGGGCGCCTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGGACAGAGCGAAACTCCATCTCAAAAAAATAAATAAATAAAAATAAATAAAGGGCACTGCTAGTAAGAGCTTTGTACACATCAGCTGCTCCCCAGACTCCCTGGGCCAAATTCATGGCCCCTGGGAAAGTGCCCATTGCCAGTTATCTGGAACCTGCCCTTTGTTTACGTGCTGCGTGGTTTTCTATTTTTAATTTTTTTTTTTTTAAAGAAACAAAAACGAAGATGTGACAGAGATCACTTGTGGCCTGTAAAGGCTAAAATCCTTACTATCCGGCCCTTTACTGAAAAGTTTTGCAGTTTCATTTGTGGTTCCTCATCCCCAAACTCTTACCCTCACAGACACAAGTTCTGCACTCCCCAAGGCACGTTTTTGCTGATCTGTGCCCTCTGGCTGGTGCACACACCTTCCCAGTGTGCCCCTGGCTCCCACATTCAGTCATTTGACAGGTGTTTATTGGACAGTTTCTCAGTGACAGGAACTGTTAGTAGCACTTGGGATTCATTAGCGAATAAACAAGGCAGAGATCCATGCTCTGTATTCTGGTTGGAGAAGAGAGACAGTAAGTAACAATCCTGATGAAATCTAGAGCATGTGGGAAGATAGTGTGGTGGGCACAAGCCTGCCGCAGCTCCAGGGGGTTGGGAGTGTTGGGGTGCGAGGTGCAGTGAGCAGGGAGGTTTGAACAAACTGAGGGAGGCCGCCATGCCCAGACGTGGGGAAGGGCATTCCAGGCAAAGGGCACCGCCTGTGCAGAGGCCCTGAGGTGGTCCCGTGCCTCGTGTGGTGCGGGCAGGGAGGGGATGAGCAGACCGTGCCAGGCCTTGCGGGCTGCCAGGAGGACTTGGAGTTTTACCCTGAGTTGGGTGGGAGCTAGGGGGTGCTGTGAGCAGAGGAGGGGGAGGACCTGACTCAGGGGCAGAGAGGACAAGACAGTGGGAGACAGGAGGGAGCGAGGGCCTGGGCGGAGCTGACTATTCCTGCCTGGGGGTCCAGGTGAGTGATGCTGCGGCTGCTTCCCGGTGGCAGAGGCAGAGATGAGGAGTGCGGTGGATTCTGGAGAGATTCTGACACCAGAACTGCCAGGGTTTGCTGATGGATTGGGTGTGAGAGAAAGAGGAGCTGCTGGAGAGGACAGTGGAGGAGCCATATGTGTGTGCACATGGGGATGGGGACAATCAGGCCACATTATCTTTGAGATGCCTGTGAGACCTCAGCACGTCGAGGGTGCAGGCATAGGTCTAGACTTGGGAGTCGTAGCGTGTGGGTGATCCCTAAAGCCTTGAGACTGGATGAAGGCAGGAGTTTTGCCTGTTTTGTTCACTGCTGTGTCCCCAGCCCCACGCCTGGCACACAGCAGGTGCTCAATAAGCGTTTTTGAACACATGGTCACCTGGCTCATGCCCAGCTGGGTCAGAGAAGCATGCTTTGCCCCTGGGAACTTGGCTAGTCTTCTCCCAGCTGACCCCGCCTTCCCCGCCACCCCAGGGAGGAGATCCCTGTGAGCAATGTGGCCGAGCTGCTGCACCAGGTGTCCATGGGGATGAAGTACCTGGAGGAGAAGAACTTTGTGCACCGTGACCTGGCGGCCCGCAACGTCCTGCTGGTTAACCGGCACTACGCCAAGATCAGCGACTTTGGCCTCTCCAAAGCACTGGGTGCCGACGACAGCTACTACACTGTAAGCCTCTGCCCCTGTGATGCCCGACTGGATGGGCTGGGTGGGTAGAGGGTCCCTGACCCCTGATCCAGCAGCATCTCCCCCTCCCCAGGCCCGCTCAGCAGGGAAGTGGCCGCTCAAGTGGTACGCACCCGAATGCATCAACTTCCGCAAGTTCTCCAGCCGCAGCGATGTCTGGAGCTATGGGGTCACCATGTGGGAGGCCTTGTCCTACGGCCAGAAGCCCTACAAGGCAGGCGCGGGCAGAGGCAGGTGGGCGGTGTGGTGGGGAGGGGGATGAGGAGGAGGACACTGGTCACTCACAGGTGTCTCTGCCCCGGCTTGAGCAGAAGATGAAAGGGCCGGAGGTCATGGCCTTCATCGAGCAGGGCAAGCGGATGGAGTGCCCACCAGAGTGTCCACCCGAACTGTACGCACTCATGAGTGACTGCTGGATCTACAAGTGAGTGCCAGTGGGGAGGGGACCCGGCTGGGCTGACCCCTGGAAAGTCCTGGTGCCCGATGAGTTGATGTCAATATAACTCTACCCAATGTCATCTCACCCAAAGCCCTTCACCCAGTTCATAGCCTTTGCAGCTGCCCCCTACCCCCACACCCAGCTCTCCAACACACCAGGGTTTGCTGTCCTGCTCCAGTGTGCCACACCCTGCCATCCCACCTGTGGGCCTGTGCCTCAGCATCTAAAACCTCAGCCATCACTCAACACATGGACCCTGCAACACGCAAACAGGTCCATACTCTGCTACTCAACCTATGACACTGACACTCAGGGCATGAGATGATTCTCCAGTACCCAACACTCCAGTCCCCACCAGCCAGCACACAGCACCCAACTACCAGACAGGTGAGCACTGAGGTACCAAATACTCATCTATTCCAGCCCCCACCTCTGCCTGGTTGAAGCCCAACCTTCAGACATCTCAACTCCTAACACCATCAGTATCCCAACTTCCCATCAGACAACAGGCAACACACCCCCAGACAAGCGGACGCCCTAGACTGCCCATGCAATGTGTGGACACTGTAACGCATGACCCCCCACCGGCCAGCACTTAGCATGCTGACACCCCAACACCCAAGCAGCCCAACAGATAGACACCCTCTCTGGCTGGCCCACCCTCCTGCGACATGTGTTAATTCCACCTCCATCAGGAAACACCCAGGGCACCACACCCCAGTACCCAAAGAGGCTAGCACCTAGCACCCCAACACAGTCCATGGATACCCCATGCACAGTACCGTTAATACTGCCGCTCCCCGCTGGCCAGACCCACTGCCATGCTCCAGGCTTCTGCTGATCACCAGCCTTGCACTCCCTCTCATCTAAGCCCCAGCACACTGATACCCTGGCCCCAGGTGCATGCACAGAGCATCAGCTTTCTATATCCCAGGTCCCCGTGGTCAATAGTTGCCACTCTGACACCAAGTCCACTCAGTCCCCTGAGTCCTCACTGGTCAACGCTCGGTAGAGGGGTCATCCCAGCACCCTGTGTGTGGGCAGCTCTGCCTCCTTAGGCTGTGTGGCATTGCCCAACGCTCTCACACCCCAGAGTCCTCTCCACCACCCAATGTCCCGCCACCCCAACAGCCCTGCTGACTTTCTGAGCCCCAAAAGTCTACCTCAGCCAAGCACAGTGCATGCCCACCCACTGGTGAAGCTGGGTCCTGGGGGCGTGGTCAGCAGCCTGGATGTACCCCACGCCCCACAGGTGGGAGGATCGCCCCGACTTCCTGACCGTGGAGCAGCGCATGCGAGCCTGTTACTACAGCCTGGCCAGCAAGGTGGAAGGGCCCCCAGGCAGCACACAGAAGGCTGAGGCTGCCTGTGCCTGAGCTCCCGCTGCCCAGGGGAGCCCTCCACGCCGGCTCTTCCCCACCCTCAGCCCCACCCCAGGTCCTGCAGTCTGGCTGAGCCCTGCTTGGTTGTCTCCACACACAGCTGGGCTGTGGTAGGGGGTGTCTCAGGCCACACCGGCCTTGCATTGCCTGCCTGGCCCCCTGTCCTCTCTGGCTGGGGAGCAGGGAGGTCCGGGAGGGTGCGGCTGTGCAGCCTGTCCTGGGCTGGTGGCTCCCGGAGGGCCCTGAGCTGAGGGCATTGCTTACACGGATGCCTTCCCCTGGGCCCTGACATTGGAGCCTGGGCATCCTCAGGTGGTCAGGCGTAGATCACCAGAATAAACCCAGCTTCCCTCTTGTCTGAGCGCCCTCAT
AAGGCGGGTGGATCATGAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAACCCCGTCCTTACTAAAAATACAAAAGATTAGCTGGGCGTGGTGGTGGGCGCCTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGGACAGAGCGAAACTCCATCTCAAAAAAATAAATAAATAAAAATAAATAAAGGGCACTGCTAGTAAGAGCTTTGTACACATCAGCTGCTCCCCAGACTCCCTGGGCCAAATTCATGGCCCCTGGGAAAGTGCCCATTGCCAGTTATCTGGAACCTGCCCTTTGTTTACGTGCTGCGTGGTTTTCTATTTTTAATTTTTTTTTTTTTAAAGAAACAAAAACGAAGATGTGACAGAGATCACTTGTGGCCTGTAAAGGCTAAAATCCTTACTATCCGGCCCTTTACTGAAAAGTTTTGCAGTTTCATTTGTGGTTCCTCATCCCCAAACTCTTACCCTCACAGACACAAGTTCTGCACTCCCCAAGGCACGTTTTTGCTGATCTGTGCCCTCTGGCTGGTGCACACACCTTCCCAGTGTGCCCCTGGCTCCCACATTCAGTCATTTGACAGGTGTTTATTGGACAGTTTCTCAGTGACAGGAACTGTTAGTAGCACTTGGGATTCATTAGCGAATAAACAAGGCAGAGATCCATGCTCTGTATTCTGGTTGGAGAAGAGAGACAGTAAGTAACAATCCTGATGAAATCTAGAGCATGTGGGAAGATAGTGTGGTGGGCACAAGCCTGCCGCAGCTCCAGGGGGTTGGGAGTGTTGGGGTGCGAGGTGCAGTGAGCAGGGAGGTTTGAACAAACTGAGGGAGGCCGCCATGCCCAGACGTGGGGAAGGGCATTCCAGGCAAAGGGCACCGCCTGTGCAGAGGCCCTGAGGTGGTCCCGTGCCTCGTGTGGTGCGGGCAGGGAGGGGATGAGCAGACCGTGCCAGGCCTTGCGGGCTGCCAGGAGGACTTGGAGTTTTACCCTGAGTTGGGTGGGAGCTAGGGGGTGCTGTGAGCAGAGGAGGGGGAGGACCTGACTCAGGGGCAGAGAGGACAAGACAGTGGGAGACAGGAGGGAGCGAGGGCCTGGGCGGAGCTGACTATTCCTGCCTGGGGGTCCAGGTGAGTGATGCTGCGGCTGCTTCCCGGTGGCAGAGGCAGAGATGAGGAGTGCGGTGGATTCTGGAGAGATTCTGACACCAGAACTGCCAGGGTTTGCTGATGGATTGGGTGTGAGAGAAAGAGGAGCTGCTGGAGAGGACAGTGGAGGAGCCATATGTGTGTGCACATGGGGATGGGGACAATCAGGCCACATTATCTTTGAGATGCCTGTGAGACCTCAGCACGTCGAGGGTGCAGGCATAGGTCTAGACTTGGGAGTCGTAGCGTGTGGGTGATCCCTAAAGCCTTGAGACTGGATGAAGGCAGGAGTTTTGCCTGTTTTGTTCACTGCTGTGTCCCCAGCCCCACGCCTGGCACACAGCAGGTGCTCAATAAGCGTTTTTGAACACATGGTCACCTGGCTCATGCCCAGCTGGGTCAGAGAAGCATGCTTTGCCCCTGGGAACTTGGCTAGTCTTCTCCCAGCTGACCCCGCCTTCCCCGCCACCCCAGGGAGGAGATCCCTGTGAGCAATGTGGCCGAGCTGCTGCACCAGGTGTCCATGGGGATGAAGTACCTGGAGGAGAAGAACTTTGTGCACCGTGACCTGGCGGCCCGCAACGTCCTGCTGGTTAACCGGCACTACGCCAAGATCAGCGACTTTGGCCTCTCCAAAGCACTGGGTGCCGACGACAGCTACTACACTGTAAGCCTCTGCCCCTGTGATGCCCGACTGGATGGGCTGGGTGGGTAGAGGGTCCCTGACCCCTGATCCAGCAGCATCTCCCCCTCCCCAGGCCCGCTCAGCAGGGAAGTGGCCGCTCAAGTGGTACGCACCCGAATGCATCAACTTCCGCAAGTTCTCCAGACGCAGCGATGTCTGGAGCTATGGGGTCACCATGTGGGAGGCCTTGTCCTACGGCCAGAAGCCCTACAAGGCAGGCGCGGGCAGAGGCAGGTGGGCGGTGTGGTGGGGAGGGGGATGAGGAGGAGGACACTGGTCACTCACAGGTGTCTCTGCCCCGGCTTGAGCAGAAGATGAAAGGGCCGGAGGTCATGGCCTTCATCGAGCAGGGCAAGCGGATGGAGTGCCCACCAGAGTGTCCACCCGAACTGTACGCACTCATGAGTGACTGCTGGATCTACAAGTGAGTGCCAGTGGGGAGGGGACCCGGCTGGGCTGACCCCTGGAAAGTCCTGGTGCCCGATGAGTTGATGTCAATATAACTCTACCCAATGTCATCTCACCCAAAGCCCTTCACCCAGTTCATAGCCTTTGCAGCTGCCCCCTACCCCCACACCCAGCTCTCCAACACACCAGGGTTTGCTGTCCTGCTCCAGTGTGCCACACCCTGCCATCCCACCTGTGGGCCTGTGCCTCAGCATCTAAAACCTCAGCCATCACTCAACACATGGACCCTGCAACACGCAAACAGGTCCATACTCTGCTACTCAACCTATGACACTGACACTCAGGGCATGAGATGATTCTCCAGTACCCAACACTCCAGTCCCCACCAGCCAGCACACAGCACCCAACTACCAGACAGGTGAGCACTGAGGTACCAAATACTCATCTATTCCAGCCCCCACCTCTGCCTGGTTGAAGCCCAACCTTCAGACATCTCAACTCCTAACACCATCAGTATCCCAACTTCCCATCAGACAACAGGCAACACACCCCCAGACAAGCGGACGCCCTAGACTGCCCATGCAATGTGTGGACACTGTAACGCATGACCCCCCACCGGCCAGCACTTAGCATGCTGACACCCCAACACCCAAGCAGCCCAACAGATAGACACCCTCTCTGGCTGGCCCACCCTCCTGCGACATGTGTTAATTCCACCTCCATCAGGAAACACCCAGGGCACCACACCCCAGTACCCAAAGAGGCTAGCACCTAGCACCCCAACACAGTCCATGGATACCCCATGCACAGTACCGTTAATACTGCCGCTCCCCGCTGGCCAGACCCACTGCCATGCTCCAGGCTTCTGCTGATCACCAGCCTTGCACTCCCTCTCATCTAAGCCCCAGCACACTGATACCCTGGCCCCAGGTGCATGCACAGAGCATCAGCTTTCTATATCCCAGGTCCCCGTGGTCAATAGTTGCCACTCTGACACCAAGTCCACTCAGTCCCCTGAGTCCTCACTGGTCAACGCTCGGTAGAGGGGTCATCCCAGCACCCTGTGTGTGGGCAGCTCTGCCTCCTTAGGCTGTGTGGCATTGCCCAACGCTCTCACACCCCAGAGTCCTCTCCACCACCCAATGTCCCGCCACCCCAACAGCCCTGCTGACTTTCTGAGCCCCAAAAGTCTACCTCAGCCAAGCACAGTGCATGCCCACCCACTGGTGAAGCTGGGTCCTGGGGGCGTGGTCAGCAGCCTGGATGTACCCCACGCCCCACAGGTGGGAGGATCGCCCCGACTTCCTGACCGTGGAGCAGCGCATGCGAGCCTGTTACTACAGCCTGGCCAGCAAGGTGGAAGGGCCCCCAGGCAGCACACAGAAGGCTGAGGCTGCCTGTGCCTGAGCTCCCGCTGCCCAGGGGAGCCCTCCACGCCGGCTCTTCCCCACCCTCAGCCCCACCCCAGGTCCTGCAGTCTGGCTGAGCCCTGCTTGGTTGTCTCCACACACAGCTGGGCTGTGGTAGGGGGTGTCTCAGGCCACACCGGCCTTGCATTGCCTGCCTGGCCCCCTGTCCTCTCTGGCTGGGGAGCAGGGAGGTCCGGGAGGGTGCGGCTGTGCAGCCTGTCCTGGGCTGGTGGCTCCCGGAGGGCCCTGAGCTGAGGGCATTGCTTACACGGATGCCTTCCCCTGGGCCCTGACATTGGAGCCTGGGCATCCTCAGGTGGTCAGGCGTAGATCACCAGAATAAACCCAGCTTCCCTCTTGTCTGAGCGCCCTCAT
Task1_train_3849
A variant found in Chromosome 2 affects VWA3B (von Willebrand factor A domain containing 3B). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Spinocerebellar ataxia, autosomal recessive 22
CTCTTGAGGACTTCCGAATTCAACACCTGCAAAAAGACTGCCCTTTCGACACACGTGGTCTATTTTTTTTTCATTATTCCTTGGATTCTCTCAAAAAGGCAAATTGATATTTGATATTCATGTTCTATGTAGAAGATATGGAGATGTACCACTCAATTTCCATTTTTTGCTTTTGAATTTTCACTGGCTTTATAGGAACTGAATGTGTAAGGCCCGTGTTATTATTCCAAATATTCAGCAGAATTTTCTTTGTGGAAGAATAGACACAGATGCTGTTCTGGATCAGTTACATGGACACTAGCTTCCTGCCTGATTATTAAATGTCCGAGGGAGCATTATAAGGTGACACAGTCTTTAAAATTAAGCAGGTCAAAAAATTAAGTGGGTTCTAGAAATATTAGTCTTCGTTAAAAGGGAATCATATACACATTGGATAAGTGTCCTTTGGTGGGCATCCATAGTGTAAGCTGGCAGGGTCTTTGCTGGGAACAGCCCCATGCAGCTTTGGCTGCGGTCATTTTGGGAATTCTTTAAAGTTATGGGCTGGTCTGGACTGGAATCAAGAAAATGGACATGATAAAGGCATGTGCACCATCCTAAATAAAACTAATGGCTAAAGCCTTAGCATAGGGTATGTGAGGGCAGGAGGTTGGGGAAGGTGCAGGGTGATCAACCTGCACATGCACAAACAGACCTCCTTCCCGGCAGGGAGGAGATGGAATCTCGGCCTTTCTTGCCACTCCAGCTGATGTGTGTGGAGGAAGGCTGCACAGCTGATGTGTGTGGAGCCCTGGCTGCACAGCTGTTTAGACTCAGAGCAGAGGGAATGGGGAAAGTGGCTCAGGTGTGCTGCTTGGCCTTATCCTAGGCTGACAGCAGCTCCTGGCAAATAAAATGTACTCAACAAATATTTGTGGAATGCCTTCCAGGGAACATCATCTCATTTACTCCTCACAGCAGCCGTTTAAGGAGGGAGTATCAGTTCTGAGCCACAGATGAGGAAACTCACATTAGACAGGACATGCCCTAGGCCATTCAGATGGGCAGTGCTGGATGAGCTTCAAGCCCAAGTCTCTCGCTCTGGAGCTGTTTCCTTCATTCCATACAGCTGAAGACAGCATGAGTGGGAGAGACTGTCATGTGTATCATTGTAAGCACCCGCCCCGCACCCAGTCTCAGGTGGTCCCTTCATGCTAAACTGGCATGATGTTCAAGTGCCCCAGGATGGTGCTGGGGAGCTGGGCAGAGGGTGGGGGTTCCCCTCAATGGCAGAGGGAGCTCCATCCCTGCAATGGGAAACAGCCACTCCTGTCCTCCTGCCCCCTCCCTGCTGAGGAGTCCTTTTGCTGGTTTGTATCCTCAGAGCTTTGAAGAGCACAATCAGAAAGTTGAAGCAAACCTCTCACCACCGCAGACTGACTAACCGTACCCCTTTCTGTCACTCATTCCAGCAGCTTCTCTGGGCTGTGGAGTGTGGGCCCACTCCCTGTCTAGCTCCTGTGTACAGTGAAGAAGCCTCTCTCAGCTCTGGGGCTCCTTAATCCATTTCTCACAGACCCTGCCTGCTTTCTTCAGTTTCTAAGATGAATGCCCAGCACATGGGAAGACCTTTAATAAACATCTCTTCCTTCACTCTCTGTGGGAAGCGGTTGACCATAGCATGTTGGAAGCTGGAAATTGCTCTTTTGTAGCCCAGCACTTTAAATGCATGGACTGTAAGTTCAGGCACACCTAAAGTTGAGTGACTTGGTTGGCCGAATCTTTCTCCTAGCTTCTTTGTCCCACCCAACTGAGAGACCTCAGAGCCAAGGCCCATGTCTTGTGGATCATTGTACTCTCACCATCTGGCAGTCTTTTCTTTATTTACTGAATTGAATCGACATGTTTTTAAGAAGCCACTCACCACTGTATACAGAATTACTATTTGAGTATCTGTAGTAAATACTAAGGATTTTCATATTCTTTTCTTTCTCTTCTCTTTCCATCTCCCTTCCCCCATCCCCAAAACTTATCGTTTCAGCCACCTGAAACAGTTATAGACCAGGTCAAACGTTTTCAGGAAATTCCTATTTATACCATCTCCTTCAATTACAATGATGAGATTGCAAACAGGTTTTTGAAAGAGGTTGCTGCTTTGACTGGAGGAGAGTTCCATTTTTATAATTTTGGTTGCAAGGATCCCACTCCCCCAGAGGCTGTTCAGGTAAGAGCTTGGTGGGCTAAGAAGGGAGTGTTCATTTGTTTGAGCATTACAGGCTGGCGGTCCCTGGGTAATACCTTCGTTGGGAAAATAGCAACCATAGAGATAACTAAGTCAAAAAAATGAGTCGCTTAACAATGAGTGTACCAGTGTTTCTCAGAATGTAGCCCAAGGACCACCTGAGCTAGGGCACCTGAGCAGATTCCTGCATCCCATTTCAGAGATGCTAAAGCAGGTTGTAGGCATAGAGGCCCAGGAATTATAAATTAATATATATATTTTGTTTTTCTTCTAAACTTTTTATTACAGAAAGTTTCAAATATTACACAAAATAGAAGCATATATAGACCTCCATGTACCTATAATTTAAATTCAACAATTATCAATATTTTGACAAACTTTAGGAATCTGTGTTTTTAACAGGGATACCCAGGGAGCTATATGTGAAGTTTGTTAATCACTGCTATACACAGATATTTGTAGAAAATGAAACAATGTCAGATGTAGGTGGTTAGTTGCTTGCTGACCTCTCAGACTATATAACCATTTGACCACCTGATAAAGCAATTTATTCTAATAGGCTAATGGGAGAAAGCAAATAAAATTCTGTTCTCTCATCCTCCAGACTTGGCCTGTGCATATGCATTTCAAGGATGCCCTTCTAGGGTGTGTGTTTTTTGTTTTATGTTCTGAGGAGTGACTTTAAATCCAGATTCAGTGGGTAGCAGGACAAGTCAGAATACTGATCAGTGCTTCATGTGAGTGAACTACCTGAGACTAGGGAATGAATCATCCAAAAAACATTGGAGGGACCAGTGCTTTAAGCTCACAGAGGGCTGGGAAGAGTGCTCCCACTAGTGAGGATTGGAAACTTCATAATCCTTTGGGCACTGGGTAAAGTACACAGGAGGGTCTTGCCTCGGTAGTGGGAGCAACCAAACACTCTGCTTCCACCTAGGAAATCTTAAATGCAAGGCCTGAAAGGATCAAACTGTTTCCAACTAACTTAACTGCATCCCAGAACAAACCCCAAGAATAATTACAAGAAAACAAAAATATTCACCACTTAACAAAGTAAACTCAGCAATGCCTAGCACACAACCGAATATTACTAGGCATGCGAAAAAGTAGGAAAATACAGACCCATAATGAGGAGGAAAAACAAACTGAAGACTTAAAATGTACCCAGAACTCAATGTTACTATTAGAGCATTAAAACTGTTCTTGTAACTGTGGGGGAGACATGAAAGGTACAAGTAAGACACAAATTAAACTAGCAATGAAAAATATATAGAATGGGATGAACAGCAGATCAGACATTGCGTAACACAAAACTAGTGAATTGGAAGGCAGCAATAGAAACTATCCAAAATGTAACACAGAAGAAAGAGAATTCAAATAAAAAAAACAAAAACAAAAACAAAGAAACAAACCAAAACAAAAAACAGAGCATCAATGAGTCGTGGAAAAATCCGATCAGTCTAATAAACACATAACTGAAGCAACAGTGGCCAAAAATTTTCCAAATTGGATTATGGCTATAAACACACAGATCCAAAAGAACCTCAATGAATCCCAAGCACGAGAAACATGAAGAAAACCAGACTAAGGCAGAATCAAACTTTCCAGAAGCAATGACAAAGAGAACATCTTAAAATAATAGAAAGAAGACACATTGTGCACAGAGGAACAGTAGTAAAGATGACAGCAGATGTCTCATCAGAAATAATGCAAGTGAGGAGACAGTGGAGAAACATGTTTAAAATACTGAGAGACTGTCCACATAGAGCCTATGCGGACTGAAAATATCTTTCAAAGCAGGATATAAAATAGACTTTTTAAGATATATAAAAACGGTCAGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTG
CTCTTGAGGACTTCCGAATTCAACACCTGCAAAAAGACTGCCCTTTCGACACACGTGGTCTATTTTTTTTTCATTATTCCTTGGATTCTCTCAAAAAGGCAAATTGATATTTGATATTCATGTTCTATGTAGAAGATATGGAGATGTACCACTCAATTTCCATTTTTTGCTTTTGAATTTTCACTGGCTTTATAGGAACTGAATGTGTAAGGCCCGTGTTATTATTCCAAATATTCAGCAGAATTTTCTTTGTGGAAGAATAGACACAGATGCTGTTCTGGATCAGTTACATGGACACTAGCTTCCTGCCTGATTATTAAATGTCCGAGGGAGCATTATAAGGTGACACAGTCTTTAAAATTAAGCAGGTCAAAAAATTAAGTGGGTTCTAGAAATATTAGTCTTCGTTAAAAGGGAATCATATACACATTGGATAAGTGTCCTTTGGTGGGCATCCATAGTGTAAGCTGGCAGGGTCTTTGCTGGGAACAGCCCCATGCAGCTTTGGCTGCGGTCATTTTGGGAATTCTTTAAAGTTATGGGCTGGTCTGGACTGGAATCAAGAAAATGGACATGATAAAGGCATGTGCACCATCCTAAATAAAACTAATGGCTAAAGCCTTAGCATAGGGTATGTGAGGGCAGGAGGTTGGGGAAGGTGCAGGGTGATCAACCTGCACATGCACAAACAGACCTCCTTCCCGGCAGGGAGGAGATGGAATCTCGGCCTTTCTTGCCACTCCAGCTGATGTGTGTGGAGGAAGGCTGCACAGCTGATGTGTGTGGAGCCCTGGCTGCACAGCTGTTTAGACTCAGAGCAGAGGGAATGGGGAAAGTGGCTCAGGTGTGCTGCTTGGCCTTATCCTAGGCTGACAGCAGCTCCTGGCAAATAAAATGTACTCAACAAATATTTGTGGAATGCCTTCCAGGGAACATCATCTCATTTACTCCTCACAGCAGCCGTTTAAGGAGGGAGTATCAGTTCTGAGCCACAGATGAGGAAACTCACATTAGACAGGACATGCCCTAGGCCATTCAGATGGGCAGTGCTGGATGAGCTTCAAGCCCAAGTCTCTCGCTCTGGAGCTGTTTCCTTCATTCCATACAGCTGAAGACAGCATGAGTGGGAGAGACTGTCATGTGTATCATTGTAAGCACCCGCCCCGCACCCAGTCTCAGGTGGTCCCTTCATGCTAAACTGGCATGATGTTCAAGTGCCCCAGGATGGTGCTGGGGAGCTGGGCAGAGGGTGGGGGTTCCCCTCAATGGCAGAGGGAGCTCCATCCCTGCAATGGGAAACAGCCACTCCTGTCCTCCTGCCCCCTCCCTGCTGAGGAGTCCTTTTGCTGGTTTGTATCCTCAGAGCTTTGAAGAGCACAATCAGAAAGTTGAAGCAAACCTCTCACCACCGCAGACTGACTAACCGTACCCCTTTCTGTCACTCATTCCAGCAGCTTCTCTGGGCTGTGGAGTGTGGGCCCACTCCCTGTCTAGCTCCTGTGTACAGTGAAGAAGCCTCTCTCAGCTCTGGGGCTCCTTAATCCATTTCTCACAGACCCTGCCTGCTTTCTTCAGTTTCTAAGATGAATGCCCAGCACATGGGAAGACCTTTAATAAACATCTCTTCCTTCACTCTCTGTGGGAAGCGGTTGACCATAGCATGTTGGAAGCTGGAAATTGCTCTTTTGTAGCCCAGCACTTTAAATGCATGGACTGTAAGTTCAGGCACACCTAAAGTTGAGTGACTTGGTTGGCCGAATCTTTCTCCTAGCTTCTTTGTCCCACCCAACTGAGAGACCTCAGAGCCAAGGCCCATGTCTTGTGGATCATTGTACTCTCACCATCTGGCAGTCTTTTCTTTATTTACTGAATTGAATCGACATGTTTTTAAGAAGCCACTCACCACTGTATACAGAATTACTATTTGAGTATCTGTAGTAAATACTAAGGATTTTCATATTCTTTTCTTTCTCTTCTCTTTCCATCTCCCTTCCCCCATCCCCAAAACTTATCGTTTCAGCCACCTGAAACAGTTATAGACCAGGTCACACGTTTTCAGGAAATTCCTATTTATACCATCTCCTTCAATTACAATGATGAGATTGCAAACAGGTTTTTGAAAGAGGTTGCTGCTTTGACTGGAGGAGAGTTCCATTTTTATAATTTTGGTTGCAAGGATCCCACTCCCCCAGAGGCTGTTCAGGTAAGAGCTTGGTGGGCTAAGAAGGGAGTGTTCATTTGTTTGAGCATTACAGGCTGGCGGTCCCTGGGTAATACCTTCGTTGGGAAAATAGCAACCATAGAGATAACTAAGTCAAAAAAATGAGTCGCTTAACAATGAGTGTACCAGTGTTTCTCAGAATGTAGCCCAAGGACCACCTGAGCTAGGGCACCTGAGCAGATTCCTGCATCCCATTTCAGAGATGCTAAAGCAGGTTGTAGGCATAGAGGCCCAGGAATTATAAATTAATATATATATTTTGTTTTTCTTCTAAACTTTTTATTACAGAAAGTTTCAAATATTACACAAAATAGAAGCATATATAGACCTCCATGTACCTATAATTTAAATTCAACAATTATCAATATTTTGACAAACTTTAGGAATCTGTGTTTTTAACAGGGATACCCAGGGAGCTATATGTGAAGTTTGTTAATCACTGCTATACACAGATATTTGTAGAAAATGAAACAATGTCAGATGTAGGTGGTTAGTTGCTTGCTGACCTCTCAGACTATATAACCATTTGACCACCTGATAAAGCAATTTATTCTAATAGGCTAATGGGAGAAAGCAAATAAAATTCTGTTCTCTCATCCTCCAGACTTGGCCTGTGCATATGCATTTCAAGGATGCCCTTCTAGGGTGTGTGTTTTTTGTTTTATGTTCTGAGGAGTGACTTTAAATCCAGATTCAGTGGGTAGCAGGACAAGTCAGAATACTGATCAGTGCTTCATGTGAGTGAACTACCTGAGACTAGGGAATGAATCATCCAAAAAACATTGGAGGGACCAGTGCTTTAAGCTCACAGAGGGCTGGGAAGAGTGCTCCCACTAGTGAGGATTGGAAACTTCATAATCCTTTGGGCACTGGGTAAAGTACACAGGAGGGTCTTGCCTCGGTAGTGGGAGCAACCAAACACTCTGCTTCCACCTAGGAAATCTTAAATGCAAGGCCTGAAAGGATCAAACTGTTTCCAACTAACTTAACTGCATCCCAGAACAAACCCCAAGAATAATTACAAGAAAACAAAAATATTCACCACTTAACAAAGTAAACTCAGCAATGCCTAGCACACAACCGAATATTACTAGGCATGCGAAAAAGTAGGAAAATACAGACCCATAATGAGGAGGAAAAACAAACTGAAGACTTAAAATGTACCCAGAACTCAATGTTACTATTAGAGCATTAAAACTGTTCTTGTAACTGTGGGGGAGACATGAAAGGTACAAGTAAGACACAAATTAAACTAGCAATGAAAAATATATAGAATGGGATGAACAGCAGATCAGACATTGCGTAACACAAAACTAGTGAATTGGAAGGCAGCAATAGAAACTATCCAAAATGTAACACAGAAGAAAGAGAATTCAAATAAAAAAAACAAAAACAAAAACAAAGAAACAAACCAAAACAAAAAACAGAGCATCAATGAGTCGTGGAAAAATCCGATCAGTCTAATAAACACATAACTGAAGCAACAGTGGCCAAAAATTTTCCAAATTGGATTATGGCTATAAACACACAGATCCAAAAGAACCTCAATGAATCCCAAGCACGAGAAACATGAAGAAAACCAGACTAAGGCAGAATCAAACTTTCCAGAAGCAATGACAAAGAGAACATCTTAAAATAATAGAAAGAAGACACATTGTGCACAGAGGAACAGTAGTAAAGATGACAGCAGATGTCTCATCAGAAATAATGCAAGTGAGGAGACAGTGGAGAAACATGTTTAAAATACTGAGAGACTGTCCACATAGAGCCTATGCGGACTGAAAATATCTTTCAAAGCAGGATATAAAATAGACTTTTTAAGATATATAAAAACGGTCAGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTG
Task1_train_3850
A sequence alteration has been identified in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; Retinal dystrophy
TCGCAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTGAGCCACTAATTTCTCAATGTATACTCAATGGGGTGGTTTACCTCACGCTTCAGGAATAATAATAACAAATCAATAACCCCATTTCATCCCAATGCGCTGGAAGCACCCCTTGCCACGCCCTCTCTTCAGGACGTCTCCACGACGCCACACGCCACGCCCTCTCTCCGGGACGCAGCAGCCTGCCCCTTCCATTTGGTAATGTCCTTGATATATGAAGTCTGCTAAATGTGCCCCGGCATCATCCAGCAGCAAGGCAGAAAAGAACGAAGAGAAAAAAGAAGAGAGAAAAGCTACCTAAAACACGAGGAGGAAGTACTGAAGGAAGCTGCCTCTAAAGACGGGGTGCCATGGTCCCAGCAGGCCTGACCCCTCCCTGCAGGGCTCCAGGGCTGGGTATCTTGGAGCAACGCTATCAGGGGGCCTTAGCTTCGGCCCTGGAGGGGAGAGGGTGCTTGGAGCTGAGGAAAAGTCGGTCCCAGCAGGCTGCAGACCATGCCTCCTGAGACCATGTGAAGCCCCCATCTTGCAGAAAGAATCCTCTCCAAGCTCCGGGAACTCAAGGGGGGCTTATAAGTAAAGAGAGTTGCTTGTCTGCAGCCTCCGGTGGGCAGCCGGGGGCTGCCCCTGTGAGCCTGCTCATGTGCCCCCCACCCGAAGCATTTCGTTTGCCCTCACAAGTGGGCCGGCCACACGTAGGCTGAGGGCTTCTCTGGGGCACTGGAAGATACAATGTTCACAAACTTTCACCCAAATTCAGTGGTGATGAGAGCTGTAGGGAACGTCCCAAAGCCCGGTCAGTGAGTGACCTTGCACTTGCAGCATCCAGGTGAAGGCAGGAAGTCACTGGGGTCTCCGATGGAGCACAGGAGCACTCTGCAGGCCTGGGCCAGCGTGGGTCGCATGGGATGGCAGAGGGGACACATGGACCCAACAAAAAGGCAGTCTCCAGTACAGCCTGTAAACTTGAATCTGCGGGAAATTCTAAGAATAAAAGTTAAGCACTCTAAGCTATGTATTTCATTCCGTGCGGGCCCACGTGACAGGTTATTCCCAGGCTTTTGATGGAGAGGTGTGATGCAAGCCCTTGGAAATGAGCCTTTACATCGTCCGCACAAACACAGTGAGGGAGGTGGAGAGGGTTCTGGAGGGAATACTGTGGGGCTCCCCAACTCTGTCCAGAGAGGGGCTGCCTCAGAACTATCCAGGCAATGCTTAAATGCATATTTCCAGGCCCAGCCCTGGAAGAGGTGAGTGGGCCCTGGGAATCAGAATTTTCTGGAAGTTCCCCAGACTTTAGCAGACCTCTGTGACATTGCCATGCTGCGTTTTCATTCTCAGCATCCTGAAGGGTGTGGATGTTGTCGTGGGCACATGGGAATGTCATCACCATTACCTTATAGTCGACCGTGACCTCCTGGGACTGAGCTGGGAGAGAAGGACCTCTGGAGTCTACCCTACCTCCTGGCCTGCCTTCCCCTACAGGGACTCCCCATGTGACTCCCTTGAGACTAAGAGGACCCTGTTGTGGACAGCCACATCTTGGGCTTCAGCCTGAAATTGCCCTAGGCTCTCTAAAACCCTCCAAAGCTACAGTCTTGGAGCACAGTGCGCTGTTTGTGTATGTGTGGGTTTCCAGGAAGAAGACGAAAAAGAAGGATGCGATCGTGGTGGACCCGTCCAGCAACCTGTACTACCGCTGGCTGACCGCCATCGCCCTGCCTGTCTTCTATAACTGGTATCTGCTTATTTGCAGGTAAGCGACAGGGGTGGAAGGTGCAGCGGAAAGGGGGAAACCAGGGCACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGC
TCGCAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTGAGCCACTAATTTCTCAATGTATACTCAATGGGGTGGTTTACCTCACGCTTCAGGAATAATAATAACAAATCAATAACCCCATTTCATCCCAATGCGCTGGAAGCACCCCTTGCCACGCCCTCTCTTCAGGACGTCTCCACGACGCCACACGCCACGCCCTCTCTCCGGGACGCAGCAGCCTGCCCCTTCCATTTGGTAATGTCCTTGATATATGAAGTCTGCTAAATGTGCCCCGGCATCATCCAGCAGCAAGGCAGAAAAGAACGAAGAGAAAAAAGAAGAGAGAAAAGCTACCTAAAACACGAGGAGGAAGTACTGAAGGAAGCTGCCTCTAAAGACGGGGTGCCATGGTCCCAGCAGGCCTGACCCCTCCCTGCAGGGCTCCAGGGCTGGGTATCTTGGAGCAACGCTATCAGGGGGCCTTAGCTTCGGCCCTGGAGGGGAGAGGGTGCTTGGAGCTGAGGAAAAGTCGGTCCCAGCAGGCTGCAGACCATGCCTCCTGAGACCATGTGAAGCCCCCATCTTGCAGAAAGAATCCTCTCCAAGCTCCGGGAACTCAAGGGGGGCTTATAAGTAAAGAGAGTTGCTTGTCTGCAGCCTCCGGTGGGCAGCCGGGGGCTGCCCCTGTGAGCCTGCTCATGTGCCCCCCACCCGAAGCATTTCGTTTGCCCTCACAAGTGGGCCGGCCACACGTAGGCTGAGGGCTTCTCTGGGGCACTGGAAGATACAATGTTCACAAACTTTCACCCAAATTCAGTGGTGATGAGAGCTGTAGGGAACGTCCCAAAGCCCGGTCAGTGAGTGACCTTGCACTTGCAGCATCCAGGTGAAGGCAGGAAGTCACTGGGGTCTCCGATGGAGCACAGGAGCACTCTGCAGGCCTGGGCCAGCGTGGGTCGCATGGGATGGCAGAGGGGACACATGGACCCAACAAAAAGGCAGTCTCCAGTACAGCCTGTAAACTTGAATCTGCGGGAAATTCTAAGAATAAAAGTTAAGCACTCTAAGCTATGTATTTCATTCCGTGCGGGCCCACGTGACAGGTTATTCCCAGGCTTTTGATGGAGAGGTGTGATGCAAGCCCTTGGAAATGAGCCTTTACATCGTCCGCACAAACACAGTGAGGGAGGTGGAGAGGGTTCTGGAGGGAATACTGTGGGGCTCCCCAACTCTGTCCAGAGAGGGGCTGCCTCAGAACTATCCAGGCAATGCTTAAATGCATATTTCCAGGCCCAGCCCTGGAAGAGGTGAGTGGGCCCTGGGAATCAGAATTTTCTGGAAGTTCCCCAGACTTTAGCAGACCTCTGTGACATTGCCATGCTGCGTTTTCATTCTCAGCATCCTGAAGGGTGTGGATGTTGTCGTGGGCACATGGGAATGTCATCACCATTACCTTATAGTCGACCGTGACCTCCTGGGACTGAGCTGGGAGAGAAGGACCTCTGGAGTCTACCCTACCTCCTGGCCTGCCTTCCCCTACAGGGACTCCCCATGTGACTCCCTTGAGACTAAGAGGACCCTGTTGTGGACAGCCACATCTTGGGCTTCAGCCTGAAATTGCCCTAGGCTCTCTAAAACCCTCCAAAGCTACAGTCTTGGAGCACAGTGCGCTGTTTGTGTATGTGTGGGTTTCCAGGAAGAAGACGAAAAAGAAGGATGCGATCGTGGTGGTCCCGTCCAGCAACCTGTACTACCGCTGGCTGACCGCCATCGCCCTGCCTGTCTTCTATAACTGGTATCTGCTTATTTGCAGGTAAGCGACAGGGGTGGAAGGTGCAGCGGAAAGGGGGAAACCAGGGCACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGC
Task1_train_3851
This genomic variant is located on Chromosome 2, within the CNGA3 (cyclic nucleotide gated channel subunit alpha 3) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Achromatopsia 2
TCGCAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTGAGCCACTAATTTCTCAATGTATACTCAATGGGGTGGTTTACCTCACGCTTCAGGAATAATAATAACAAATCAATAACCCCATTTCATCCCAATGCGCTGGAAGCACCCCTTGCCACGCCCTCTCTTCAGGACGTCTCCACGACGCCACACGCCACGCCCTCTCTCCGGGACGCAGCAGCCTGCCCCTTCCATTTGGTAATGTCCTTGATATATGAAGTCTGCTAAATGTGCCCCGGCATCATCCAGCAGCAAGGCAGAAAAGAACGAAGAGAAAAAAGAAGAGAGAAAAGCTACCTAAAACACGAGGAGGAAGTACTGAAGGAAGCTGCCTCTAAAGACGGGGTGCCATGGTCCCAGCAGGCCTGACCCCTCCCTGCAGGGCTCCAGGGCTGGGTATCTTGGAGCAACGCTATCAGGGGGCCTTAGCTTCGGCCCTGGAGGGGAGAGGGTGCTTGGAGCTGAGGAAAAGTCGGTCCCAGCAGGCTGCAGACCATGCCTCCTGAGACCATGTGAAGCCCCCATCTTGCAGAAAGAATCCTCTCCAAGCTCCGGGAACTCAAGGGGGGCTTATAAGTAAAGAGAGTTGCTTGTCTGCAGCCTCCGGTGGGCAGCCGGGGGCTGCCCCTGTGAGCCTGCTCATGTGCCCCCCACCCGAAGCATTTCGTTTGCCCTCACAAGTGGGCCGGCCACACGTAGGCTGAGGGCTTCTCTGGGGCACTGGAAGATACAATGTTCACAAACTTTCACCCAAATTCAGTGGTGATGAGAGCTGTAGGGAACGTCCCAAAGCCCGGTCAGTGAGTGACCTTGCACTTGCAGCATCCAGGTGAAGGCAGGAAGTCACTGGGGTCTCCGATGGAGCACAGGAGCACTCTGCAGGCCTGGGCCAGCGTGGGTCGCATGGGATGGCAGAGGGGACACATGGACCCAACAAAAAGGCAGTCTCCAGTACAGCCTGTAAACTTGAATCTGCGGGAAATTCTAAGAATAAAAGTTAAGCACTCTAAGCTATGTATTTCATTCCGTGCGGGCCCACGTGACAGGTTATTCCCAGGCTTTTGATGGAGAGGTGTGATGCAAGCCCTTGGAAATGAGCCTTTACATCGTCCGCACAAACACAGTGAGGGAGGTGGAGAGGGTTCTGGAGGGAATACTGTGGGGCTCCCCAACTCTGTCCAGAGAGGGGCTGCCTCAGAACTATCCAGGCAATGCTTAAATGCATATTTCCAGGCCCAGCCCTGGAAGAGGTGAGTGGGCCCTGGGAATCAGAATTTTCTGGAAGTTCCCCAGACTTTAGCAGACCTCTGTGACATTGCCATGCTGCGTTTTCATTCTCAGCATCCTGAAGGGTGTGGATGTTGTCGTGGGCACATGGGAATGTCATCACCATTACCTTATAGTCGACCGTGACCTCCTGGGACTGAGCTGGGAGAGAAGGACCTCTGGAGTCTACCCTACCTCCTGGCCTGCCTTCCCCTACAGGGACTCCCCATGTGACTCCCTTGAGACTAAGAGGACCCTGTTGTGGACAGCCACATCTTGGGCTTCAGCCTGAAATTGCCCTAGGCTCTCTAAAACCCTCCAAAGCTACAGTCTTGGAGCACAGTGCGCTGTTTGTGTATGTGTGGGTTTCCAGGAAGAAGACGAAAAAGAAGGATGCGATCGTGGTGGACCCGTCCAGCAACCTGTACTACCGCTGGCTGACCGCCATCGCCCTGCCTGTCTTCTATAACTGGTATCTGCTTATTTGCAGGTAAGCGACAGGGGTGGAAGGTGCAGCGGAAAGGGGGAAACCAGGGCACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGC
TCGCAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTGAGCCACTAATTTCTCAATGTATACTCAATGGGGTGGTTTACCTCACGCTTCAGGAATAATAATAACAAATCAATAACCCCATTTCATCCCAATGCGCTGGAAGCACCCCTTGCCACGCCCTCTCTTCAGGACGTCTCCACGACGCCACACGCCACGCCCTCTCTCCGGGACGCAGCAGCCTGCCCCTTCCATTTGGTAATGTCCTTGATATATGAAGTCTGCTAAATGTGCCCCGGCATCATCCAGCAGCAAGGCAGAAAAGAACGAAGAGAAAAAAGAAGAGAGAAAAGCTACCTAAAACACGAGGAGGAAGTACTGAAGGAAGCTGCCTCTAAAGACGGGGTGCCATGGTCCCAGCAGGCCTGACCCCTCCCTGCAGGGCTCCAGGGCTGGGTATCTTGGAGCAACGCTATCAGGGGGCCTTAGCTTCGGCCCTGGAGGGGAGAGGGTGCTTGGAGCTGAGGAAAAGTCGGTCCCAGCAGGCTGCAGACCATGCCTCCTGAGACCATGTGAAGCCCCCATCTTGCAGAAAGAATCCTCTCCAAGCTCCGGGAACTCAAGGGGGGCTTATAAGTAAAGAGAGTTGCTTGTCTGCAGCCTCCGGTGGGCAGCCGGGGGCTGCCCCTGTGAGCCTGCTCATGTGCCCCCCACCCGAAGCATTTCGTTTGCCCTCACAAGTGGGCCGGCCACACGTAGGCTGAGGGCTTCTCTGGGGCACTGGAAGATACAATGTTCACAAACTTTCACCCAAATTCAGTGGTGATGAGAGCTGTAGGGAACGTCCCAAAGCCCGGTCAGTGAGTGACCTTGCACTTGCAGCATCCAGGTGAAGGCAGGAAGTCACTGGGGTCTCCGATGGAGCACAGGAGCACTCTGCAGGCCTGGGCCAGCGTGGGTCGCATGGGATGGCAGAGGGGACACATGGACCCAACAAAAAGGCAGTCTCCAGTACAGCCTGTAAACTTGAATCTGCGGGAAATTCTAAGAATAAAAGTTAAGCACTCTAAGCTATGTATTTCATTCCGTGCGGGCCCACGTGACAGGTTATTCCCAGGCTTTTGATGGAGAGGTGTGATGCAAGCCCTTGGAAATGAGCCTTTACATCGTCCGCACAAACACAGTGAGGGAGGTGGAGAGGGTTCTGGAGGGAATACTGTGGGGCTCCCCAACTCTGTCCAGAGAGGGGCTGCCTCAGAACTATCCAGGCAATGCTTAAATGCATATTTCCAGGCCCAGCCCTGGAAGAGGTGAGTGGGCCCTGGGAATCAGAATTTTCTGGAAGTTCCCCAGACTTTAGCAGACCTCTGTGACATTGCCATGCTGCGTTTTCATTCTCAGCATCCTGAAGGGTGTGGATGTTGTCGTGGGCACATGGGAATGTCATCACCATTACCTTATAGTCGACCGTGACCTCCTGGGACTGAGCTGGGAGAGAAGGACCTCTGGAGTCTACCCTACCTCCTGGCCTGCCTTCCCCTACAGGGACTCCCCATGTGACTCCCTTGAGACTAAGAGGACCCTGTTGTGGACAGCCACATCTTGGGCTTCAGCCTGAAATTGCCCTAGGCTCTCTAAAACCCTCCAAAGCTACAGTCTTGGAGCACAGTGCGCTGTTTGTGTATGTGTGGGTTTCCAGGAAGAAGACGAAAAAGAAGGATGCGATCGTGGTGGTCCCGTCCAGCAACCTGTACTACCGCTGGCTGACCGCCATCGCCCTGCCTGTCTTCTATAACTGGTATCTGCTTATTTGCAGGTAAGCGACAGGGGTGGAAGGTGCAGCGGAAAGGGGGAAACCAGGGCACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGC
Task1_train_3852
This is a variant in CNGA3 (cyclic nucleotide gated channel subunit alpha 3), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; Retinal dystrophy
CAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTGAGCCACTAATTTCTCAATGTATACTCAATGGGGTGGTTTACCTCACGCTTCAGGAATAATAATAACAAATCAATAACCCCATTTCATCCCAATGCGCTGGAAGCACCCCTTGCCACGCCCTCTCTTCAGGACGTCTCCACGACGCCACACGCCACGCCCTCTCTCCGGGACGCAGCAGCCTGCCCCTTCCATTTGGTAATGTCCTTGATATATGAAGTCTGCTAAATGTGCCCCGGCATCATCCAGCAGCAAGGCAGAAAAGAACGAAGAGAAAAAAGAAGAGAGAAAAGCTACCTAAAACACGAGGAGGAAGTACTGAAGGAAGCTGCCTCTAAAGACGGGGTGCCATGGTCCCAGCAGGCCTGACCCCTCCCTGCAGGGCTCCAGGGCTGGGTATCTTGGAGCAACGCTATCAGGGGGCCTTAGCTTCGGCCCTGGAGGGGAGAGGGTGCTTGGAGCTGAGGAAAAGTCGGTCCCAGCAGGCTGCAGACCATGCCTCCTGAGACCATGTGAAGCCCCCATCTTGCAGAAAGAATCCTCTCCAAGCTCCGGGAACTCAAGGGGGGCTTATAAGTAAAGAGAGTTGCTTGTCTGCAGCCTCCGGTGGGCAGCCGGGGGCTGCCCCTGTGAGCCTGCTCATGTGCCCCCCACCCGAAGCATTTCGTTTGCCCTCACAAGTGGGCCGGCCACACGTAGGCTGAGGGCTTCTCTGGGGCACTGGAAGATACAATGTTCACAAACTTTCACCCAAATTCAGTGGTGATGAGAGCTGTAGGGAACGTCCCAAAGCCCGGTCAGTGAGTGACCTTGCACTTGCAGCATCCAGGTGAAGGCAGGAAGTCACTGGGGTCTCCGATGGAGCACAGGAGCACTCTGCAGGCCTGGGCCAGCGTGGGTCGCATGGGATGGCAGAGGGGACACATGGACCCAACAAAAAGGCAGTCTCCAGTACAGCCTGTAAACTTGAATCTGCGGGAAATTCTAAGAATAAAAGTTAAGCACTCTAAGCTATGTATTTCATTCCGTGCGGGCCCACGTGACAGGTTATTCCCAGGCTTTTGATGGAGAGGTGTGATGCAAGCCCTTGGAAATGAGCCTTTACATCGTCCGCACAAACACAGTGAGGGAGGTGGAGAGGGTTCTGGAGGGAATACTGTGGGGCTCCCCAACTCTGTCCAGAGAGGGGCTGCCTCAGAACTATCCAGGCAATGCTTAAATGCATATTTCCAGGCCCAGCCCTGGAAGAGGTGAGTGGGCCCTGGGAATCAGAATTTTCTGGAAGTTCCCCAGACTTTAGCAGACCTCTGTGACATTGCCATGCTGCGTTTTCATTCTCAGCATCCTGAAGGGTGTGGATGTTGTCGTGGGCACATGGGAATGTCATCACCATTACCTTATAGTCGACCGTGACCTCCTGGGACTGAGCTGGGAGAGAAGGACCTCTGGAGTCTACCCTACCTCCTGGCCTGCCTTCCCCTACAGGGACTCCCCATGTGACTCCCTTGAGACTAAGAGGACCCTGTTGTGGACAGCCACATCTTGGGCTTCAGCCTGAAATTGCCCTAGGCTCTCTAAAACCCTCCAAAGCTACAGTCTTGGAGCACAGTGCGCTGTTTGTGTATGTGTGGGTTTCCAGGAAGAAGACGAAAAAGAAGGATGCGATCGTGGTGGACCCGTCCAGCAACCTGTACTACCGCTGGCTGACCGCCATCGCCCTGCCTGTCTTCTATAACTGGTATCTGCTTATTTGCAGGTAAGCGACAGGGGTGGAAGGTGCAGCGGAAAGGGGGAAACCAGGGCACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGG
CAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTGAGCCACTAATTTCTCAATGTATACTCAATGGGGTGGTTTACCTCACGCTTCAGGAATAATAATAACAAATCAATAACCCCATTTCATCCCAATGCGCTGGAAGCACCCCTTGCCACGCCCTCTCTTCAGGACGTCTCCACGACGCCACACGCCACGCCCTCTCTCCGGGACGCAGCAGCCTGCCCCTTCCATTTGGTAATGTCCTTGATATATGAAGTCTGCTAAATGTGCCCCGGCATCATCCAGCAGCAAGGCAGAAAAGAACGAAGAGAAAAAAGAAGAGAGAAAAGCTACCTAAAACACGAGGAGGAAGTACTGAAGGAAGCTGCCTCTAAAGACGGGGTGCCATGGTCCCAGCAGGCCTGACCCCTCCCTGCAGGGCTCCAGGGCTGGGTATCTTGGAGCAACGCTATCAGGGGGCCTTAGCTTCGGCCCTGGAGGGGAGAGGGTGCTTGGAGCTGAGGAAAAGTCGGTCCCAGCAGGCTGCAGACCATGCCTCCTGAGACCATGTGAAGCCCCCATCTTGCAGAAAGAATCCTCTCCAAGCTCCGGGAACTCAAGGGGGGCTTATAAGTAAAGAGAGTTGCTTGTCTGCAGCCTCCGGTGGGCAGCCGGGGGCTGCCCCTGTGAGCCTGCTCATGTGCCCCCCACCCGAAGCATTTCGTTTGCCCTCACAAGTGGGCCGGCCACACGTAGGCTGAGGGCTTCTCTGGGGCACTGGAAGATACAATGTTCACAAACTTTCACCCAAATTCAGTGGTGATGAGAGCTGTAGGGAACGTCCCAAAGCCCGGTCAGTGAGTGACCTTGCACTTGCAGCATCCAGGTGAAGGCAGGAAGTCACTGGGGTCTCCGATGGAGCACAGGAGCACTCTGCAGGCCTGGGCCAGCGTGGGTCGCATGGGATGGCAGAGGGGACACATGGACCCAACAAAAAGGCAGTCTCCAGTACAGCCTGTAAACTTGAATCTGCGGGAAATTCTAAGAATAAAAGTTAAGCACTCTAAGCTATGTATTTCATTCCGTGCGGGCCCACGTGACAGGTTATTCCCAGGCTTTTGATGGAGAGGTGTGATGCAAGCCCTTGGAAATGAGCCTTTACATCGTCCGCACAAACACAGTGAGGGAGGTGGAGAGGGTTCTGGAGGGAATACTGTGGGGCTCCCCAACTCTGTCCAGAGAGGGGCTGCCTCAGAACTATCCAGGCAATGCTTAAATGCATATTTCCAGGCCCAGCCCTGGAAGAGGTGAGTGGGCCCTGGGAATCAGAATTTTCTGGAAGTTCCCCAGACTTTAGCAGACCTCTGTGACATTGCCATGCTGCGTTTTCATTCTCAGCATCCTGAAGGGTGTGGATGTTGTCGTGGGCACATGGGAATGTCATCACCATTACCTTATAGTCGACCGTGACCTCCTGGGACTGAGCTGGGAGAGAAGGACCTCTGGAGTCTACCCTACCTCCTGGCCTGCCTTCCCCTACAGGGACTCCCCATGTGACTCCCTTGAGACTAAGAGGACCCTGTTGTGGACAGCCACATCTTGGGCTTCAGCCTGAAATTGCCCTAGGCTCTCTAAAACCCTCCAAAGCTACAGTCTTGGAGCACAGTGCGCTGTTTGTGTATGTGTGGGTTTCCAGGAAGAAGACGAAAAAGAAGGATGCGATCGTGGTGGACCTGTCCAGCAACCTGTACTACCGCTGGCTGACCGCCATCGCCCTGCCTGTCTTCTATAACTGGTATCTGCTTATTTGCAGGTAAGCGACAGGGGTGGAAGGTGCAGCGGAAAGGGGGAAACCAGGGCACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGG
Task1_train_3853
Consider a variant on Chromosome 2 in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3). Determine its clinical classification and disease relevance.
Pathogenic; Achromatopsia 2
CAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTGAGCCACTAATTTCTCAATGTATACTCAATGGGGTGGTTTACCTCACGCTTCAGGAATAATAATAACAAATCAATAACCCCATTTCATCCCAATGCGCTGGAAGCACCCCTTGCCACGCCCTCTCTTCAGGACGTCTCCACGACGCCACACGCCACGCCCTCTCTCCGGGACGCAGCAGCCTGCCCCTTCCATTTGGTAATGTCCTTGATATATGAAGTCTGCTAAATGTGCCCCGGCATCATCCAGCAGCAAGGCAGAAAAGAACGAAGAGAAAAAAGAAGAGAGAAAAGCTACCTAAAACACGAGGAGGAAGTACTGAAGGAAGCTGCCTCTAAAGACGGGGTGCCATGGTCCCAGCAGGCCTGACCCCTCCCTGCAGGGCTCCAGGGCTGGGTATCTTGGAGCAACGCTATCAGGGGGCCTTAGCTTCGGCCCTGGAGGGGAGAGGGTGCTTGGAGCTGAGGAAAAGTCGGTCCCAGCAGGCTGCAGACCATGCCTCCTGAGACCATGTGAAGCCCCCATCTTGCAGAAAGAATCCTCTCCAAGCTCCGGGAACTCAAGGGGGGCTTATAAGTAAAGAGAGTTGCTTGTCTGCAGCCTCCGGTGGGCAGCCGGGGGCTGCCCCTGTGAGCCTGCTCATGTGCCCCCCACCCGAAGCATTTCGTTTGCCCTCACAAGTGGGCCGGCCACACGTAGGCTGAGGGCTTCTCTGGGGCACTGGAAGATACAATGTTCACAAACTTTCACCCAAATTCAGTGGTGATGAGAGCTGTAGGGAACGTCCCAAAGCCCGGTCAGTGAGTGACCTTGCACTTGCAGCATCCAGGTGAAGGCAGGAAGTCACTGGGGTCTCCGATGGAGCACAGGAGCACTCTGCAGGCCTGGGCCAGCGTGGGTCGCATGGGATGGCAGAGGGGACACATGGACCCAACAAAAAGGCAGTCTCCAGTACAGCCTGTAAACTTGAATCTGCGGGAAATTCTAAGAATAAAAGTTAAGCACTCTAAGCTATGTATTTCATTCCGTGCGGGCCCACGTGACAGGTTATTCCCAGGCTTTTGATGGAGAGGTGTGATGCAAGCCCTTGGAAATGAGCCTTTACATCGTCCGCACAAACACAGTGAGGGAGGTGGAGAGGGTTCTGGAGGGAATACTGTGGGGCTCCCCAACTCTGTCCAGAGAGGGGCTGCCTCAGAACTATCCAGGCAATGCTTAAATGCATATTTCCAGGCCCAGCCCTGGAAGAGGTGAGTGGGCCCTGGGAATCAGAATTTTCTGGAAGTTCCCCAGACTTTAGCAGACCTCTGTGACATTGCCATGCTGCGTTTTCATTCTCAGCATCCTGAAGGGTGTGGATGTTGTCGTGGGCACATGGGAATGTCATCACCATTACCTTATAGTCGACCGTGACCTCCTGGGACTGAGCTGGGAGAGAAGGACCTCTGGAGTCTACCCTACCTCCTGGCCTGCCTTCCCCTACAGGGACTCCCCATGTGACTCCCTTGAGACTAAGAGGACCCTGTTGTGGACAGCCACATCTTGGGCTTCAGCCTGAAATTGCCCTAGGCTCTCTAAAACCCTCCAAAGCTACAGTCTTGGAGCACAGTGCGCTGTTTGTGTATGTGTGGGTTTCCAGGAAGAAGACGAAAAAGAAGGATGCGATCGTGGTGGACCCGTCCAGCAACCTGTACTACCGCTGGCTGACCGCCATCGCCCTGCCTGTCTTCTATAACTGGTATCTGCTTATTTGCAGGTAAGCGACAGGGGTGGAAGGTGCAGCGGAAAGGGGGAAACCAGGGCACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGG
CAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTGAGCCACTAATTTCTCAATGTATACTCAATGGGGTGGTTTACCTCACGCTTCAGGAATAATAATAACAAATCAATAACCCCATTTCATCCCAATGCGCTGGAAGCACCCCTTGCCACGCCCTCTCTTCAGGACGTCTCCACGACGCCACACGCCACGCCCTCTCTCCGGGACGCAGCAGCCTGCCCCTTCCATTTGGTAATGTCCTTGATATATGAAGTCTGCTAAATGTGCCCCGGCATCATCCAGCAGCAAGGCAGAAAAGAACGAAGAGAAAAAAGAAGAGAGAAAAGCTACCTAAAACACGAGGAGGAAGTACTGAAGGAAGCTGCCTCTAAAGACGGGGTGCCATGGTCCCAGCAGGCCTGACCCCTCCCTGCAGGGCTCCAGGGCTGGGTATCTTGGAGCAACGCTATCAGGGGGCCTTAGCTTCGGCCCTGGAGGGGAGAGGGTGCTTGGAGCTGAGGAAAAGTCGGTCCCAGCAGGCTGCAGACCATGCCTCCTGAGACCATGTGAAGCCCCCATCTTGCAGAAAGAATCCTCTCCAAGCTCCGGGAACTCAAGGGGGGCTTATAAGTAAAGAGAGTTGCTTGTCTGCAGCCTCCGGTGGGCAGCCGGGGGCTGCCCCTGTGAGCCTGCTCATGTGCCCCCCACCCGAAGCATTTCGTTTGCCCTCACAAGTGGGCCGGCCACACGTAGGCTGAGGGCTTCTCTGGGGCACTGGAAGATACAATGTTCACAAACTTTCACCCAAATTCAGTGGTGATGAGAGCTGTAGGGAACGTCCCAAAGCCCGGTCAGTGAGTGACCTTGCACTTGCAGCATCCAGGTGAAGGCAGGAAGTCACTGGGGTCTCCGATGGAGCACAGGAGCACTCTGCAGGCCTGGGCCAGCGTGGGTCGCATGGGATGGCAGAGGGGACACATGGACCCAACAAAAAGGCAGTCTCCAGTACAGCCTGTAAACTTGAATCTGCGGGAAATTCTAAGAATAAAAGTTAAGCACTCTAAGCTATGTATTTCATTCCGTGCGGGCCCACGTGACAGGTTATTCCCAGGCTTTTGATGGAGAGGTGTGATGCAAGCCCTTGGAAATGAGCCTTTACATCGTCCGCACAAACACAGTGAGGGAGGTGGAGAGGGTTCTGGAGGGAATACTGTGGGGCTCCCCAACTCTGTCCAGAGAGGGGCTGCCTCAGAACTATCCAGGCAATGCTTAAATGCATATTTCCAGGCCCAGCCCTGGAAGAGGTGAGTGGGCCCTGGGAATCAGAATTTTCTGGAAGTTCCCCAGACTTTAGCAGACCTCTGTGACATTGCCATGCTGCGTTTTCATTCTCAGCATCCTGAAGGGTGTGGATGTTGTCGTGGGCACATGGGAATGTCATCACCATTACCTTATAGTCGACCGTGACCTCCTGGGACTGAGCTGGGAGAGAAGGACCTCTGGAGTCTACCCTACCTCCTGGCCTGCCTTCCCCTACAGGGACTCCCCATGTGACTCCCTTGAGACTAAGAGGACCCTGTTGTGGACAGCCACATCTTGGGCTTCAGCCTGAAATTGCCCTAGGCTCTCTAAAACCCTCCAAAGCTACAGTCTTGGAGCACAGTGCGCTGTTTGTGTATGTGTGGGTTTCCAGGAAGAAGACGAAAAAGAAGGATGCGATCGTGGTGGACCTGTCCAGCAACCTGTACTACCGCTGGCTGACCGCCATCGCCCTGCCTGTCTTCTATAACTGGTATCTGCTTATTTGCAGGTAAGCGACAGGGGTGGAAGGTGCAGCGGAAAGGGGGAAACCAGGGCACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGG
Task1_train_3854
Gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Retinal dystrophy
GACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTGAGCCACTAATTTCTCAATGTATACTCAATGGGGTGGTTTACCTCACGCTTCAGGAATAATAATAACAAATCAATAACCCCATTTCATCCCAATGCGCTGGAAGCACCCCTTGCCACGCCCTCTCTTCAGGACGTCTCCACGACGCCACACGCCACGCCCTCTCTCCGGGACGCAGCAGCCTGCCCCTTCCATTTGGTAATGTCCTTGATATATGAAGTCTGCTAAATGTGCCCCGGCATCATCCAGCAGCAAGGCAGAAAAGAACGAAGAGAAAAAAGAAGAGAGAAAAGCTACCTAAAACACGAGGAGGAAGTACTGAAGGAAGCTGCCTCTAAAGACGGGGTGCCATGGTCCCAGCAGGCCTGACCCCTCCCTGCAGGGCTCCAGGGCTGGGTATCTTGGAGCAACGCTATCAGGGGGCCTTAGCTTCGGCCCTGGAGGGGAGAGGGTGCTTGGAGCTGAGGAAAAGTCGGTCCCAGCAGGCTGCAGACCATGCCTCCTGAGACCATGTGAAGCCCCCATCTTGCAGAAAGAATCCTCTCCAAGCTCCGGGAACTCAAGGGGGGCTTATAAGTAAAGAGAGTTGCTTGTCTGCAGCCTCCGGTGGGCAGCCGGGGGCTGCCCCTGTGAGCCTGCTCATGTGCCCCCCACCCGAAGCATTTCGTTTGCCCTCACAAGTGGGCCGGCCACACGTAGGCTGAGGGCTTCTCTGGGGCACTGGAAGATACAATGTTCACAAACTTTCACCCAAATTCAGTGGTGATGAGAGCTGTAGGGAACGTCCCAAAGCCCGGTCAGTGAGTGACCTTGCACTTGCAGCATCCAGGTGAAGGCAGGAAGTCACTGGGGTCTCCGATGGAGCACAGGAGCACTCTGCAGGCCTGGGCCAGCGTGGGTCGCATGGGATGGCAGAGGGGACACATGGACCCAACAAAAAGGCAGTCTCCAGTACAGCCTGTAAACTTGAATCTGCGGGAAATTCTAAGAATAAAAGTTAAGCACTCTAAGCTATGTATTTCATTCCGTGCGGGCCCACGTGACAGGTTATTCCCAGGCTTTTGATGGAGAGGTGTGATGCAAGCCCTTGGAAATGAGCCTTTACATCGTCCGCACAAACACAGTGAGGGAGGTGGAGAGGGTTCTGGAGGGAATACTGTGGGGCTCCCCAACTCTGTCCAGAGAGGGGCTGCCTCAGAACTATCCAGGCAATGCTTAAATGCATATTTCCAGGCCCAGCCCTGGAAGAGGTGAGTGGGCCCTGGGAATCAGAATTTTCTGGAAGTTCCCCAGACTTTAGCAGACCTCTGTGACATTGCCATGCTGCGTTTTCATTCTCAGCATCCTGAAGGGTGTGGATGTTGTCGTGGGCACATGGGAATGTCATCACCATTACCTTATAGTCGACCGTGACCTCCTGGGACTGAGCTGGGAGAGAAGGACCTCTGGAGTCTACCCTACCTCCTGGCCTGCCTTCCCCTACAGGGACTCCCCATGTGACTCCCTTGAGACTAAGAGGACCCTGTTGTGGACAGCCACATCTTGGGCTTCAGCCTGAAATTGCCCTAGGCTCTCTAAAACCCTCCAAAGCTACAGTCTTGGAGCACAGTGCGCTGTTTGTGTATGTGTGGGTTTCCAGGAAGAAGACGAAAAAGAAGGATGCGATCGTGGTGGACCCGTCCAGCAACCTGTACTACCGCTGGCTGACCGCCATCGCCCTGCCTGTCTTCTATAACTGGTATCTGCTTATTTGCAGGTAAGCGACAGGGGTGGAAGGTGCAGCGGAAAGGGGGAAACCAGGGCACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCC
GACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTGAGCCACTAATTTCTCAATGTATACTCAATGGGGTGGTTTACCTCACGCTTCAGGAATAATAATAACAAATCAATAACCCCATTTCATCCCAATGCGCTGGAAGCACCCCTTGCCACGCCCTCTCTTCAGGACGTCTCCACGACGCCACACGCCACGCCCTCTCTCCGGGACGCAGCAGCCTGCCCCTTCCATTTGGTAATGTCCTTGATATATGAAGTCTGCTAAATGTGCCCCGGCATCATCCAGCAGCAAGGCAGAAAAGAACGAAGAGAAAAAAGAAGAGAGAAAAGCTACCTAAAACACGAGGAGGAAGTACTGAAGGAAGCTGCCTCTAAAGACGGGGTGCCATGGTCCCAGCAGGCCTGACCCCTCCCTGCAGGGCTCCAGGGCTGGGTATCTTGGAGCAACGCTATCAGGGGGCCTTAGCTTCGGCCCTGGAGGGGAGAGGGTGCTTGGAGCTGAGGAAAAGTCGGTCCCAGCAGGCTGCAGACCATGCCTCCTGAGACCATGTGAAGCCCCCATCTTGCAGAAAGAATCCTCTCCAAGCTCCGGGAACTCAAGGGGGGCTTATAAGTAAAGAGAGTTGCTTGTCTGCAGCCTCCGGTGGGCAGCCGGGGGCTGCCCCTGTGAGCCTGCTCATGTGCCCCCCACCCGAAGCATTTCGTTTGCCCTCACAAGTGGGCCGGCCACACGTAGGCTGAGGGCTTCTCTGGGGCACTGGAAGATACAATGTTCACAAACTTTCACCCAAATTCAGTGGTGATGAGAGCTGTAGGGAACGTCCCAAAGCCCGGTCAGTGAGTGACCTTGCACTTGCAGCATCCAGGTGAAGGCAGGAAGTCACTGGGGTCTCCGATGGAGCACAGGAGCACTCTGCAGGCCTGGGCCAGCGTGGGTCGCATGGGATGGCAGAGGGGACACATGGACCCAACAAAAAGGCAGTCTCCAGTACAGCCTGTAAACTTGAATCTGCGGGAAATTCTAAGAATAAAAGTTAAGCACTCTAAGCTATGTATTTCATTCCGTGCGGGCCCACGTGACAGGTTATTCCCAGGCTTTTGATGGAGAGGTGTGATGCAAGCCCTTGGAAATGAGCCTTTACATCGTCCGCACAAACACAGTGAGGGAGGTGGAGAGGGTTCTGGAGGGAATACTGTGGGGCTCCCCAACTCTGTCCAGAGAGGGGCTGCCTCAGAACTATCCAGGCAATGCTTAAATGCATATTTCCAGGCCCAGCCCTGGAAGAGGTGAGTGGGCCCTGGGAATCAGAATTTTCTGGAAGTTCCCCAGACTTTAGCAGACCTCTGTGACATTGCCATGCTGCGTTTTCATTCTCAGCATCCTGAAGGGTGTGGATGTTGTCGTGGGCACATGGGAATGTCATCACCATTACCTTATAGTCGACCGTGACCTCCTGGGACTGAGCTGGGAGAGAAGGACCTCTGGAGTCTACCCTACCTCCTGGCCTGCCTTCCCCTACAGGGACTCCCCATGTGACTCCCTTGAGACTAAGAGGACCCTGTTGTGGACAGCCACATCTTGGGCTTCAGCCTGAAATTGCCCTAGGCTCTCTAAAACCCTCCAAAGCTACAGTCTTGGAGCACAGTGCGCTGTTTGTGTATGTGTGGGTTTCCAGGAAGAAGACGAAAAAGAAGGATGCGATCGTGGTGGACCCGTCCAGCAACCTGTACTACCGCTGGCTGACCGCCATCGCCCTGCCTGTCTTCTGTAACTGGTATCTGCTTATTTGCAGGTAAGCGACAGGGGTGGAAGGTGCAGCGGAAAGGGGGAAACCAGGGCACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCC
Task1_train_3855
Here is a variant affecting CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Achromatopsia 2
CTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTGAGCCACTAATTTCTCAATGTATACTCAATGGGGTGGTTTACCTCACGCTTCAGGAATAATAATAACAAATCAATAACCCCATTTCATCCCAATGCGCTGGAAGCACCCCTTGCCACGCCCTCTCTTCAGGACGTCTCCACGACGCCACACGCCACGCCCTCTCTCCGGGACGCAGCAGCCTGCCCCTTCCATTTGGTAATGTCCTTGATATATGAAGTCTGCTAAATGTGCCCCGGCATCATCCAGCAGCAAGGCAGAAAAGAACGAAGAGAAAAAAGAAGAGAGAAAAGCTACCTAAAACACGAGGAGGAAGTACTGAAGGAAGCTGCCTCTAAAGACGGGGTGCCATGGTCCCAGCAGGCCTGACCCCTCCCTGCAGGGCTCCAGGGCTGGGTATCTTGGAGCAACGCTATCAGGGGGCCTTAGCTTCGGCCCTGGAGGGGAGAGGGTGCTTGGAGCTGAGGAAAAGTCGGTCCCAGCAGGCTGCAGACCATGCCTCCTGAGACCATGTGAAGCCCCCATCTTGCAGAAAGAATCCTCTCCAAGCTCCGGGAACTCAAGGGGGGCTTATAAGTAAAGAGAGTTGCTTGTCTGCAGCCTCCGGTGGGCAGCCGGGGGCTGCCCCTGTGAGCCTGCTCATGTGCCCCCCACCCGAAGCATTTCGTTTGCCCTCACAAGTGGGCCGGCCACACGTAGGCTGAGGGCTTCTCTGGGGCACTGGAAGATACAATGTTCACAAACTTTCACCCAAATTCAGTGGTGATGAGAGCTGTAGGGAACGTCCCAAAGCCCGGTCAGTGAGTGACCTTGCACTTGCAGCATCCAGGTGAAGGCAGGAAGTCACTGGGGTCTCCGATGGAGCACAGGAGCACTCTGCAGGCCTGGGCCAGCGTGGGTCGCATGGGATGGCAGAGGGGACACATGGACCCAACAAAAAGGCAGTCTCCAGTACAGCCTGTAAACTTGAATCTGCGGGAAATTCTAAGAATAAAAGTTAAGCACTCTAAGCTATGTATTTCATTCCGTGCGGGCCCACGTGACAGGTTATTCCCAGGCTTTTGATGGAGAGGTGTGATGCAAGCCCTTGGAAATGAGCCTTTACATCGTCCGCACAAACACAGTGAGGGAGGTGGAGAGGGTTCTGGAGGGAATACTGTGGGGCTCCCCAACTCTGTCCAGAGAGGGGCTGCCTCAGAACTATCCAGGCAATGCTTAAATGCATATTTCCAGGCCCAGCCCTGGAAGAGGTGAGTGGGCCCTGGGAATCAGAATTTTCTGGAAGTTCCCCAGACTTTAGCAGACCTCTGTGACATTGCCATGCTGCGTTTTCATTCTCAGCATCCTGAAGGGTGTGGATGTTGTCGTGGGCACATGGGAATGTCATCACCATTACCTTATAGTCGACCGTGACCTCCTGGGACTGAGCTGGGAGAGAAGGACCTCTGGAGTCTACCCTACCTCCTGGCCTGCCTTCCCCTACAGGGACTCCCCATGTGACTCCCTTGAGACTAAGAGGACCCTGTTGTGGACAGCCACATCTTGGGCTTCAGCCTGAAATTGCCCTAGGCTCTCTAAAACCCTCCAAAGCTACAGTCTTGGAGCACAGTGCGCTGTTTGTGTATGTGTGGGTTTCCAGGAAGAAGACGAAAAAGAAGGATGCGATCGTGGTGGACCCGTCCAGCAACCTGTACTACCGCTGGCTGACCGCCATCGCCCTGCCTGTCTTCTATAACTGGTATCTGCTTATTTGCAGGTAAGCGACAGGGGTGGAAGGTGCAGCGGAAAGGGGGAAACCAGGGCACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACG
CTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTGAGCCACTAATTTCTCAATGTATACTCAATGGGGTGGTTTACCTCACGCTTCAGGAATAATAATAACAAATCAATAACCCCATTTCATCCCAATGCGCTGGAAGCACCCCTTGCCACGCCCTCTCTTCAGGACGTCTCCACGACGCCACACGCCACGCCCTCTCTCCGGGACGCAGCAGCCTGCCCCTTCCATTTGGTAATGTCCTTGATATATGAAGTCTGCTAAATGTGCCCCGGCATCATCCAGCAGCAAGGCAGAAAAGAACGAAGAGAAAAAAGAAGAGAGAAAAGCTACCTAAAACACGAGGAGGAAGTACTGAAGGAAGCTGCCTCTAAAGACGGGGTGCCATGGTCCCAGCAGGCCTGACCCCTCCCTGCAGGGCTCCAGGGCTGGGTATCTTGGAGCAACGCTATCAGGGGGCCTTAGCTTCGGCCCTGGAGGGGAGAGGGTGCTTGGAGCTGAGGAAAAGTCGGTCCCAGCAGGCTGCAGACCATGCCTCCTGAGACCATGTGAAGCCCCCATCTTGCAGAAAGAATCCTCTCCAAGCTCCGGGAACTCAAGGGGGGCTTATAAGTAAAGAGAGTTGCTTGTCTGCAGCCTCCGGTGGGCAGCCGGGGGCTGCCCCTGTGAGCCTGCTCATGTGCCCCCCACCCGAAGCATTTCGTTTGCCCTCACAAGTGGGCCGGCCACACGTAGGCTGAGGGCTTCTCTGGGGCACTGGAAGATACAATGTTCACAAACTTTCACCCAAATTCAGTGGTGATGAGAGCTGTAGGGAACGTCCCAAAGCCCGGTCAGTGAGTGACCTTGCACTTGCAGCATCCAGGTGAAGGCAGGAAGTCACTGGGGTCTCCGATGGAGCACAGGAGCACTCTGCAGGCCTGGGCCAGCGTGGGTCGCATGGGATGGCAGAGGGGACACATGGACCCAACAAAAAGGCAGTCTCCAGTACAGCCTGTAAACTTGAATCTGCGGGAAATTCTAAGAATAAAAGTTAAGCACTCTAAGCTATGTATTTCATTCCGTGCGGGCCCACGTGACAGGTTATTCCCAGGCTTTTGATGGAGAGGTGTGATGCAAGCCCTTGGAAATGAGCCTTTACATCGTCCGCACAAACACAGTGAGGGAGGTGGAGAGGGTTCTGGAGGGAATACTGTGGGGCTCCCCAACTCTGTCCAGAGAGGGGCTGCCTCAGAACTATCCAGGCAATGCTTAAATGCATATTTCCAGGCCCAGCCCTGGAAGAGGTGAGTGGGCCCTGGGAATCAGAATTTTCTGGAAGTTCCCCAGACTTTAGCAGACCTCTGTGACATTGCCATGCTGCGTTTTCATTCTCAGCATCCTGAAGGGTGTGGATGTTGTCGTGGGCACATGGGAATGTCATCACCATTACCTTATAGTCGACCGTGACCTCCTGGGACTGAGCTGGGAGAGAAGGACCTCTGGAGTCTACCCTACCTCCTGGCCTGCCTTCCCCTACAGGGACTCCCCATGTGACTCCCTTGAGACTAAGAGGACCCTGTTGTGGACAGCCACATCTTGGGCTTCAGCCTGAAATTGCCCTAGGCTCTCTAAAACCCTCCAAAGCTACAGTCTTGGAGCACAGTGCGCTGTTTGTGTATGTGTGGGTTTCCAGGAAGAAGACGAAAAAGAAGGATGCGATCGTGGTGGACCCGTCCAGCAACCTGTACTACCGCTGGCTGACCGCCATCGCCCTGCCTGTCTTCTATAACTGGTATCTGCTTACTTGCAGGTAAGCGACAGGGGTGGAAGGTGCAGCGGAAAGGGGGAAACCAGGGCACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACG
Task1_train_3856
This sequence variant lies in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Achromatopsia 2
CACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACGCTCCAGAAACACACGCACAGCCATCCATCTCCCACATGGCTTCTTTAGGGCCTGTTTCGATGAGCTGCAGTCCGAGTACCTGATGCTGTGGCTGGTCCTGGACTACTCGGCAGATGTCCTGTATGTCTTGGATGTGCTTGTACGAGCTCGGACAGGTGAGTGTGCCCCAGGCCTGGGGAGGGGACCATGGCCCCCACGGGAGTGTTCCGGGAGACCCAGCATGGTGGATGGGACATTACCTACCCTTGACCATGAGAGGCCAGGCAGGTCTGGGGACCTCCGACAGTGAGGGTAGGTGGTGCGGCCTCAAGCCCTTCTACACGGAACCCTTGGACAGGACGCTGAGCAGGGGCCAGGACACCTAAGCTCTGGGCTCTGCTCTTCCAACAAGCTGTATGACCTTGAGCAAGTCAGGCTGTCTCTCTGGGCCTTGTTCTTGTCACCTCTGAGATAAGCAGGCCAGGCCAGGTGCAGTGGCTCACATCTGTAATCCTAGGACTTTGGGAGGCCAAGGTGGACAGATTACTGGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCCCACTGGCATGTGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGAGGTGGAGGTTGCAGTGAGTGGAGATCATGCCACTTCACTCCAACCTGGGTGACATAGCAACATTCTGTCTCAAAAAAAGAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGAAAAGAAGTAAGCAGGCCGGACTGCAATCTCGAAGGACCCCTCCAGCTCTCACTACTCGACACTGGGGTAAGCAGGAAGGAGAGCTCAGTCAATCTTGGAGTTTCTCTTCTTGGACAGTCAGCAGATACAGGACATGTTACTCCGTGGCTTTCAGAGGACTTTTAACATGTGGAGAATGAAAATCTGAAATAGGGCCCAGGTGAATGAGGACTTCCTTCGAATCATCTGTGGTTGGGGATGGGAAAGGATACTCACCCCTTCACATTTCTTAGGTGCTGAACTGTGTGCCCTTGGGACATCTTTTTCTAATCTGCACAAAGACATTGCCTAAGCTGGTAGAGGCCCTGTTTCCAAGATTTTTGAACTGAAAACTGTGCCAGGCCAGGCATGGGTGCAGGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGAAGGGTCATTTGAGGCAGGAGTTCCAGACTAGCCAGGGCAACATAGCAAGACCTTGTCTCTACAAAAAGAAAAAATTAGCTGGACGTGTTGGTGTGTGCCTCAGGAGGCTGAGGTGAGAGGATTGCTTGAGCCCAGGAGGTCAAGACTGTAGGGAGTCATGGCCTCGGTTTACAGAGCAAGACCTTGTCTCAAAAAAAAAAAATGATAAAATAATGCTATGCCATAGCTGTTGATGTAAACACCAGCAGATCACAGTAGCCGACCTCCGTGTGGCTCCACGTACAATACATTTCAAGTGCGTCTTGCTTCTTCATTAGAACCACTGCATGAGACAAGAAGCTCAGGTGTGATTACCTCCATCTTGCTGATTTAGAAACCAACATCAGAGACACCAAGTGACTTGTCCAAAGTCCACAGTCACTGCCCAGCCACACCAGACTGGTCCTCTGTTTGCTTCCACACTGGTGCCTAGCGTCATAACTTAGAAGACCTCAGATACACAGGCTGAGGCTTGCGTGGGTGGCCTAGCCAGCCCTGGTCACCTGCCCCGCTGCTGCAGTCATGTTAAACTCCACAGACACACGAGCTCTGTAAGTGGCCCATTGGGCTGATGGTCCCTGGTCTCAGCCCAGCTTCAGTGGGATGAGACACCCCGACTCAGTCATTAACCCTGCACCTTCTTGTGCTTGGGTAGTACCCTAAGCAACCAAGATTCAGCAGGAAGCTGGGAGAGAGGGAGGCACAGGAATCACACTCCAAGGAAAACATCATTAGAATTGAGAGAAGACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCT
CACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACGCTCCAGAAACACACGCACAGCCATCCATCTCCCACATGGCTTCTTTAGGGCCTATTTCGATGAGCTGCAGTCCGAGTACCTGATGCTGTGGCTGGTCCTGGACTACTCGGCAGATGTCCTGTATGTCTTGGATGTGCTTGTACGAGCTCGGACAGGTGAGTGTGCCCCAGGCCTGGGGAGGGGACCATGGCCCCCACGGGAGTGTTCCGGGAGACCCAGCATGGTGGATGGGACATTACCTACCCTTGACCATGAGAGGCCAGGCAGGTCTGGGGACCTCCGACAGTGAGGGTAGGTGGTGCGGCCTCAAGCCCTTCTACACGGAACCCTTGGACAGGACGCTGAGCAGGGGCCAGGACACCTAAGCTCTGGGCTCTGCTCTTCCAACAAGCTGTATGACCTTGAGCAAGTCAGGCTGTCTCTCTGGGCCTTGTTCTTGTCACCTCTGAGATAAGCAGGCCAGGCCAGGTGCAGTGGCTCACATCTGTAATCCTAGGACTTTGGGAGGCCAAGGTGGACAGATTACTGGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCCCACTGGCATGTGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGAGGTGGAGGTTGCAGTGAGTGGAGATCATGCCACTTCACTCCAACCTGGGTGACATAGCAACATTCTGTCTCAAAAAAAGAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGAAAAGAAGTAAGCAGGCCGGACTGCAATCTCGAAGGACCCCTCCAGCTCTCACTACTCGACACTGGGGTAAGCAGGAAGGAGAGCTCAGTCAATCTTGGAGTTTCTCTTCTTGGACAGTCAGCAGATACAGGACATGTTACTCCGTGGCTTTCAGAGGACTTTTAACATGTGGAGAATGAAAATCTGAAATAGGGCCCAGGTGAATGAGGACTTCCTTCGAATCATCTGTGGTTGGGGATGGGAAAGGATACTCACCCCTTCACATTTCTTAGGTGCTGAACTGTGTGCCCTTGGGACATCTTTTTCTAATCTGCACAAAGACATTGCCTAAGCTGGTAGAGGCCCTGTTTCCAAGATTTTTGAACTGAAAACTGTGCCAGGCCAGGCATGGGTGCAGGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGAAGGGTCATTTGAGGCAGGAGTTCCAGACTAGCCAGGGCAACATAGCAAGACCTTGTCTCTACAAAAAGAAAAAATTAGCTGGACGTGTTGGTGTGTGCCTCAGGAGGCTGAGGTGAGAGGATTGCTTGAGCCCAGGAGGTCAAGACTGTAGGGAGTCATGGCCTCGGTTTACAGAGCAAGACCTTGTCTCAAAAAAAAAAAATGATAAAATAATGCTATGCCATAGCTGTTGATGTAAACACCAGCAGATCACAGTAGCCGACCTCCGTGTGGCTCCACGTACAATACATTTCAAGTGCGTCTTGCTTCTTCATTAGAACCACTGCATGAGACAAGAAGCTCAGGTGTGATTACCTCCATCTTGCTGATTTAGAAACCAACATCAGAGACACCAAGTGACTTGTCCAAAGTCCACAGTCACTGCCCAGCCACACCAGACTGGTCCTCTGTTTGCTTCCACACTGGTGCCTAGCGTCATAACTTAGAAGACCTCAGATACACAGGCTGAGGCTTGCGTGGGTGGCCTAGCCAGCCCTGGTCACCTGCCCCGCTGCTGCAGTCATGTTAAACTCCACAGACACACGAGCTCTGTAAGTGGCCCATTGGGCTGATGGTCCCTGGTCTCAGCCCAGCTTCAGTGGGATGAGACACCCCGACTCAGTCATTAACCCTGCACCTTCTTGTGCTTGGGTAGTACCCTAAGCAACCAAGATTCAGCAGGAAGCTGGGAGAGAGGGAGGCACAGGAATCACACTCCAAGGAAAACATCATTAGAATTGAGAGAAGACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCT
Task1_train_3857
The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Retinal dystrophy
CACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACGCTCCAGAAACACACGCACAGCCATCCATCTCCCACATGGCTTCTTTAGGGCCTGTTTCGATGAGCTGCAGTCCGAGTACCTGATGCTGTGGCTGGTCCTGGACTACTCGGCAGATGTCCTGTATGTCTTGGATGTGCTTGTACGAGCTCGGACAGGTGAGTGTGCCCCAGGCCTGGGGAGGGGACCATGGCCCCCACGGGAGTGTTCCGGGAGACCCAGCATGGTGGATGGGACATTACCTACCCTTGACCATGAGAGGCCAGGCAGGTCTGGGGACCTCCGACAGTGAGGGTAGGTGGTGCGGCCTCAAGCCCTTCTACACGGAACCCTTGGACAGGACGCTGAGCAGGGGCCAGGACACCTAAGCTCTGGGCTCTGCTCTTCCAACAAGCTGTATGACCTTGAGCAAGTCAGGCTGTCTCTCTGGGCCTTGTTCTTGTCACCTCTGAGATAAGCAGGCCAGGCCAGGTGCAGTGGCTCACATCTGTAATCCTAGGACTTTGGGAGGCCAAGGTGGACAGATTACTGGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCCCACTGGCATGTGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGAGGTGGAGGTTGCAGTGAGTGGAGATCATGCCACTTCACTCCAACCTGGGTGACATAGCAACATTCTGTCTCAAAAAAAGAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGAAAAGAAGTAAGCAGGCCGGACTGCAATCTCGAAGGACCCCTCCAGCTCTCACTACTCGACACTGGGGTAAGCAGGAAGGAGAGCTCAGTCAATCTTGGAGTTTCTCTTCTTGGACAGTCAGCAGATACAGGACATGTTACTCCGTGGCTTTCAGAGGACTTTTAACATGTGGAGAATGAAAATCTGAAATAGGGCCCAGGTGAATGAGGACTTCCTTCGAATCATCTGTGGTTGGGGATGGGAAAGGATACTCACCCCTTCACATTTCTTAGGTGCTGAACTGTGTGCCCTTGGGACATCTTTTTCTAATCTGCACAAAGACATTGCCTAAGCTGGTAGAGGCCCTGTTTCCAAGATTTTTGAACTGAAAACTGTGCCAGGCCAGGCATGGGTGCAGGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGAAGGGTCATTTGAGGCAGGAGTTCCAGACTAGCCAGGGCAACATAGCAAGACCTTGTCTCTACAAAAAGAAAAAATTAGCTGGACGTGTTGGTGTGTGCCTCAGGAGGCTGAGGTGAGAGGATTGCTTGAGCCCAGGAGGTCAAGACTGTAGGGAGTCATGGCCTCGGTTTACAGAGCAAGACCTTGTCTCAAAAAAAAAAAATGATAAAATAATGCTATGCCATAGCTGTTGATGTAAACACCAGCAGATCACAGTAGCCGACCTCCGTGTGGCTCCACGTACAATACATTTCAAGTGCGTCTTGCTTCTTCATTAGAACCACTGCATGAGACAAGAAGCTCAGGTGTGATTACCTCCATCTTGCTGATTTAGAAACCAACATCAGAGACACCAAGTGACTTGTCCAAAGTCCACAGTCACTGCCCAGCCACACCAGACTGGTCCTCTGTTTGCTTCCACACTGGTGCCTAGCGTCATAACTTAGAAGACCTCAGATACACAGGCTGAGGCTTGCGTGGGTGGCCTAGCCAGCCCTGGTCACCTGCCCCGCTGCTGCAGTCATGTTAAACTCCACAGACACACGAGCTCTGTAAGTGGCCCATTGGGCTGATGGTCCCTGGTCTCAGCCCAGCTTCAGTGGGATGAGACACCCCGACTCAGTCATTAACCCTGCACCTTCTTGTGCTTGGGTAGTACCCTAAGCAACCAAGATTCAGCAGGAAGCTGGGAGAGAGGGAGGCACAGGAATCACACTCCAAGGAAAACATCATTAGAATTGAGAGAAGACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCT
CACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACGCTCCAGAAACACACGCACAGCCATCCATCTCCCACATGGCTTCTTTAGGGCCTATTTCGATGAGCTGCAGTCCGAGTACCTGATGCTGTGGCTGGTCCTGGACTACTCGGCAGATGTCCTGTATGTCTTGGATGTGCTTGTACGAGCTCGGACAGGTGAGTGTGCCCCAGGCCTGGGGAGGGGACCATGGCCCCCACGGGAGTGTTCCGGGAGACCCAGCATGGTGGATGGGACATTACCTACCCTTGACCATGAGAGGCCAGGCAGGTCTGGGGACCTCCGACAGTGAGGGTAGGTGGTGCGGCCTCAAGCCCTTCTACACGGAACCCTTGGACAGGACGCTGAGCAGGGGCCAGGACACCTAAGCTCTGGGCTCTGCTCTTCCAACAAGCTGTATGACCTTGAGCAAGTCAGGCTGTCTCTCTGGGCCTTGTTCTTGTCACCTCTGAGATAAGCAGGCCAGGCCAGGTGCAGTGGCTCACATCTGTAATCCTAGGACTTTGGGAGGCCAAGGTGGACAGATTACTGGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCCCACTGGCATGTGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGAGGTGGAGGTTGCAGTGAGTGGAGATCATGCCACTTCACTCCAACCTGGGTGACATAGCAACATTCTGTCTCAAAAAAAGAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGAAAAGAAGTAAGCAGGCCGGACTGCAATCTCGAAGGACCCCTCCAGCTCTCACTACTCGACACTGGGGTAAGCAGGAAGGAGAGCTCAGTCAATCTTGGAGTTTCTCTTCTTGGACAGTCAGCAGATACAGGACATGTTACTCCGTGGCTTTCAGAGGACTTTTAACATGTGGAGAATGAAAATCTGAAATAGGGCCCAGGTGAATGAGGACTTCCTTCGAATCATCTGTGGTTGGGGATGGGAAAGGATACTCACCCCTTCACATTTCTTAGGTGCTGAACTGTGTGCCCTTGGGACATCTTTTTCTAATCTGCACAAAGACATTGCCTAAGCTGGTAGAGGCCCTGTTTCCAAGATTTTTGAACTGAAAACTGTGCCAGGCCAGGCATGGGTGCAGGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGAAGGGTCATTTGAGGCAGGAGTTCCAGACTAGCCAGGGCAACATAGCAAGACCTTGTCTCTACAAAAAGAAAAAATTAGCTGGACGTGTTGGTGTGTGCCTCAGGAGGCTGAGGTGAGAGGATTGCTTGAGCCCAGGAGGTCAAGACTGTAGGGAGTCATGGCCTCGGTTTACAGAGCAAGACCTTGTCTCAAAAAAAAAAAATGATAAAATAATGCTATGCCATAGCTGTTGATGTAAACACCAGCAGATCACAGTAGCCGACCTCCGTGTGGCTCCACGTACAATACATTTCAAGTGCGTCTTGCTTCTTCATTAGAACCACTGCATGAGACAAGAAGCTCAGGTGTGATTACCTCCATCTTGCTGATTTAGAAACCAACATCAGAGACACCAAGTGACTTGTCCAAAGTCCACAGTCACTGCCCAGCCACACCAGACTGGTCCTCTGTTTGCTTCCACACTGGTGCCTAGCGTCATAACTTAGAAGACCTCAGATACACAGGCTGAGGCTTGCGTGGGTGGCCTAGCCAGCCCTGGTCACCTGCCCCGCTGCTGCAGTCATGTTAAACTCCACAGACACACGAGCTCTGTAAGTGGCCCATTGGGCTGATGGTCCCTGGTCTCAGCCCAGCTTCAGTGGGATGAGACACCCCGACTCAGTCATTAACCCTGCACCTTCTTGTGCTTGGGTAGTACCCTAAGCAACCAAGATTCAGCAGGAAGCTGGGAGAGAGGGAGGCACAGGAATCACACTCCAAGGAAAACATCATTAGAATTGAGAGAAGACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCT
Task1_train_3858
A sequence alteration has been identified in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; CNGA3-related retinopathy
CCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACGCTCCAGAAACACACGCACAGCCATCCATCTCCCACATGGCTTCTTTAGGGCCTGTTTCGATGAGCTGCAGTCCGAGTACCTGATGCTGTGGCTGGTCCTGGACTACTCGGCAGATGTCCTGTATGTCTTGGATGTGCTTGTACGAGCTCGGACAGGTGAGTGTGCCCCAGGCCTGGGGAGGGGACCATGGCCCCCACGGGAGTGTTCCGGGAGACCCAGCATGGTGGATGGGACATTACCTACCCTTGACCATGAGAGGCCAGGCAGGTCTGGGGACCTCCGACAGTGAGGGTAGGTGGTGCGGCCTCAAGCCCTTCTACACGGAACCCTTGGACAGGACGCTGAGCAGGGGCCAGGACACCTAAGCTCTGGGCTCTGCTCTTCCAACAAGCTGTATGACCTTGAGCAAGTCAGGCTGTCTCTCTGGGCCTTGTTCTTGTCACCTCTGAGATAAGCAGGCCAGGCCAGGTGCAGTGGCTCACATCTGTAATCCTAGGACTTTGGGAGGCCAAGGTGGACAGATTACTGGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCCCACTGGCATGTGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGAGGTGGAGGTTGCAGTGAGTGGAGATCATGCCACTTCACTCCAACCTGGGTGACATAGCAACATTCTGTCTCAAAAAAAGAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGAAAAGAAGTAAGCAGGCCGGACTGCAATCTCGAAGGACCCCTCCAGCTCTCACTACTCGACACTGGGGTAAGCAGGAAGGAGAGCTCAGTCAATCTTGGAGTTTCTCTTCTTGGACAGTCAGCAGATACAGGACATGTTACTCCGTGGCTTTCAGAGGACTTTTAACATGTGGAGAATGAAAATCTGAAATAGGGCCCAGGTGAATGAGGACTTCCTTCGAATCATCTGTGGTTGGGGATGGGAAAGGATACTCACCCCTTCACATTTCTTAGGTGCTGAACTGTGTGCCCTTGGGACATCTTTTTCTAATCTGCACAAAGACATTGCCTAAGCTGGTAGAGGCCCTGTTTCCAAGATTTTTGAACTGAAAACTGTGCCAGGCCAGGCATGGGTGCAGGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGAAGGGTCATTTGAGGCAGGAGTTCCAGACTAGCCAGGGCAACATAGCAAGACCTTGTCTCTACAAAAAGAAAAAATTAGCTGGACGTGTTGGTGTGTGCCTCAGGAGGCTGAGGTGAGAGGATTGCTTGAGCCCAGGAGGTCAAGACTGTAGGGAGTCATGGCCTCGGTTTACAGAGCAAGACCTTGTCTCAAAAAAAAAAAATGATAAAATAATGCTATGCCATAGCTGTTGATGTAAACACCAGCAGATCACAGTAGCCGACCTCCGTGTGGCTCCACGTACAATACATTTCAAGTGCGTCTTGCTTCTTCATTAGAACCACTGCATGAGACAAGAAGCTCAGGTGTGATTACCTCCATCTTGCTGATTTAGAAACCAACATCAGAGACACCAAGTGACTTGTCCAAAGTCCACAGTCACTGCCCAGCCACACCAGACTGGTCCTCTGTTTGCTTCCACACTGGTGCCTAGCGTCATAACTTAGAAGACCTCAGATACACAGGCTGAGGCTTGCGTGGGTGGCCTAGCCAGCCCTGGTCACCTGCCCCGCTGCTGCAGTCATGTTAAACTCCACAGACACACGAGCTCTGTAAGTGGCCCATTGGGCTGATGGTCCCTGGTCTCAGCCCAGCTTCAGTGGGATGAGACACCCCGACTCAGTCATTAACCCTGCACCTTCTTGTGCTTGGGTAGTACCCTAAGCAACCAAGATTCAGCAGGAAGCTGGGAGAGAGGGAGGCACAGGAATCACACTCCAAGGAAAACATCATTAGAATTGAGAGAAGACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCTAAGAAGAA
CCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACGCTCCAGAAACACACGCACAGCCATCCATCTCCCACATGGCTTCTTTAGGGCCTGTTTCGATAAGCTGCAGTCCGAGTACCTGATGCTGTGGCTGGTCCTGGACTACTCGGCAGATGTCCTGTATGTCTTGGATGTGCTTGTACGAGCTCGGACAGGTGAGTGTGCCCCAGGCCTGGGGAGGGGACCATGGCCCCCACGGGAGTGTTCCGGGAGACCCAGCATGGTGGATGGGACATTACCTACCCTTGACCATGAGAGGCCAGGCAGGTCTGGGGACCTCCGACAGTGAGGGTAGGTGGTGCGGCCTCAAGCCCTTCTACACGGAACCCTTGGACAGGACGCTGAGCAGGGGCCAGGACACCTAAGCTCTGGGCTCTGCTCTTCCAACAAGCTGTATGACCTTGAGCAAGTCAGGCTGTCTCTCTGGGCCTTGTTCTTGTCACCTCTGAGATAAGCAGGCCAGGCCAGGTGCAGTGGCTCACATCTGTAATCCTAGGACTTTGGGAGGCCAAGGTGGACAGATTACTGGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCCCACTGGCATGTGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGAGGTGGAGGTTGCAGTGAGTGGAGATCATGCCACTTCACTCCAACCTGGGTGACATAGCAACATTCTGTCTCAAAAAAAGAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGAAAAGAAGTAAGCAGGCCGGACTGCAATCTCGAAGGACCCCTCCAGCTCTCACTACTCGACACTGGGGTAAGCAGGAAGGAGAGCTCAGTCAATCTTGGAGTTTCTCTTCTTGGACAGTCAGCAGATACAGGACATGTTACTCCGTGGCTTTCAGAGGACTTTTAACATGTGGAGAATGAAAATCTGAAATAGGGCCCAGGTGAATGAGGACTTCCTTCGAATCATCTGTGGTTGGGGATGGGAAAGGATACTCACCCCTTCACATTTCTTAGGTGCTGAACTGTGTGCCCTTGGGACATCTTTTTCTAATCTGCACAAAGACATTGCCTAAGCTGGTAGAGGCCCTGTTTCCAAGATTTTTGAACTGAAAACTGTGCCAGGCCAGGCATGGGTGCAGGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGAAGGGTCATTTGAGGCAGGAGTTCCAGACTAGCCAGGGCAACATAGCAAGACCTTGTCTCTACAAAAAGAAAAAATTAGCTGGACGTGTTGGTGTGTGCCTCAGGAGGCTGAGGTGAGAGGATTGCTTGAGCCCAGGAGGTCAAGACTGTAGGGAGTCATGGCCTCGGTTTACAGAGCAAGACCTTGTCTCAAAAAAAAAAAATGATAAAATAATGCTATGCCATAGCTGTTGATGTAAACACCAGCAGATCACAGTAGCCGACCTCCGTGTGGCTCCACGTACAATACATTTCAAGTGCGTCTTGCTTCTTCATTAGAACCACTGCATGAGACAAGAAGCTCAGGTGTGATTACCTCCATCTTGCTGATTTAGAAACCAACATCAGAGACACCAAGTGACTTGTCCAAAGTCCACAGTCACTGCCCAGCCACACCAGACTGGTCCTCTGTTTGCTTCCACACTGGTGCCTAGCGTCATAACTTAGAAGACCTCAGATACACAGGCTGAGGCTTGCGTGGGTGGCCTAGCCAGCCCTGGTCACCTGCCCCGCTGCTGCAGTCATGTTAAACTCCACAGACACACGAGCTCTGTAAGTGGCCCATTGGGCTGATGGTCCCTGGTCTCAGCCCAGCTTCAGTGGGATGAGACACCCCGACTCAGTCATTAACCCTGCACCTTCTTGTGCTTGGGTAGTACCCTAAGCAACCAAGATTCAGCAGGAAGCTGGGAGAGAGGGAGGCACAGGAATCACACTCCAAGGAAAACATCATTAGAATTGAGAGAAGACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCTAAGAAGAA
Task1_train_3859
This mutation occurs in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Cone dystrophy
GACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACGCTCCAGAAACACACGCACAGCCATCCATCTCCCACATGGCTTCTTTAGGGCCTGTTTCGATGAGCTGCAGTCCGAGTACCTGATGCTGTGGCTGGTCCTGGACTACTCGGCAGATGTCCTGTATGTCTTGGATGTGCTTGTACGAGCTCGGACAGGTGAGTGTGCCCCAGGCCTGGGGAGGGGACCATGGCCCCCACGGGAGTGTTCCGGGAGACCCAGCATGGTGGATGGGACATTACCTACCCTTGACCATGAGAGGCCAGGCAGGTCTGGGGACCTCCGACAGTGAGGGTAGGTGGTGCGGCCTCAAGCCCTTCTACACGGAACCCTTGGACAGGACGCTGAGCAGGGGCCAGGACACCTAAGCTCTGGGCTCTGCTCTTCCAACAAGCTGTATGACCTTGAGCAAGTCAGGCTGTCTCTCTGGGCCTTGTTCTTGTCACCTCTGAGATAAGCAGGCCAGGCCAGGTGCAGTGGCTCACATCTGTAATCCTAGGACTTTGGGAGGCCAAGGTGGACAGATTACTGGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCCCACTGGCATGTGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGAGGTGGAGGTTGCAGTGAGTGGAGATCATGCCACTTCACTCCAACCTGGGTGACATAGCAACATTCTGTCTCAAAAAAAGAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGAAAAGAAGTAAGCAGGCCGGACTGCAATCTCGAAGGACCCCTCCAGCTCTCACTACTCGACACTGGGGTAAGCAGGAAGGAGAGCTCAGTCAATCTTGGAGTTTCTCTTCTTGGACAGTCAGCAGATACAGGACATGTTACTCCGTGGCTTTCAGAGGACTTTTAACATGTGGAGAATGAAAATCTGAAATAGGGCCCAGGTGAATGAGGACTTCCTTCGAATCATCTGTGGTTGGGGATGGGAAAGGATACTCACCCCTTCACATTTCTTAGGTGCTGAACTGTGTGCCCTTGGGACATCTTTTTCTAATCTGCACAAAGACATTGCCTAAGCTGGTAGAGGCCCTGTTTCCAAGATTTTTGAACTGAAAACTGTGCCAGGCCAGGCATGGGTGCAGGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGAAGGGTCATTTGAGGCAGGAGTTCCAGACTAGCCAGGGCAACATAGCAAGACCTTGTCTCTACAAAAAGAAAAAATTAGCTGGACGTGTTGGTGTGTGCCTCAGGAGGCTGAGGTGAGAGGATTGCTTGAGCCCAGGAGGTCAAGACTGTAGGGAGTCATGGCCTCGGTTTACAGAGCAAGACCTTGTCTCAAAAAAAAAAAATGATAAAATAATGCTATGCCATAGCTGTTGATGTAAACACCAGCAGATCACAGTAGCCGACCTCCGTGTGGCTCCACGTACAATACATTTCAAGTGCGTCTTGCTTCTTCATTAGAACCACTGCATGAGACAAGAAGCTCAGGTGTGATTACCTCCATCTTGCTGATTTAGAAACCAACATCAGAGACACCAAGTGACTTGTCCAAAGTCCACAGTCACTGCCCAGCCACACCAGACTGGTCCTCTGTTTGCTTCCACACTGGTGCCTAGCGTCATAACTTAGAAGACCTCAGATACACAGGCTGAGGCTTGCGTGGGTGGCCTAGCCAGCCCTGGTCACCTGCCCCGCTGCTGCAGTCATGTTAAACTCCACAGACACACGAGCTCTGTAAGTGGCCCATTGGGCTGATGGTCCCTGGTCTCAGCCCAGCTTCAGTGGGATGAGACACCCCGACTCAGTCATTAACCCTGCACCTTCTTGTGCTTGGGTAGTACCCTAAGCAACCAAGATTCAGCAGGAAGCTGGGAGAGAGGGAGGCACAGGAATCACACTCCAAGGAAAACATCATTAGAATTGAGAGAAGACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCTAAGAAGAACTGGGGGCTGTGAAGTGGGGTGTTCTTTGTTGTGACAGCACACTA
GACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACGCTCCAGAAACACACGCACAGCCATCCATCTCCCACATGGCTTCTTTAGGGCCTGTTTCGATGAGCTGCAGTCCGAGTACCTGATGCTGTGGCTGGTCCTGGACTACCCGGCAGATGTCCTGTATGTCTTGGATGTGCTTGTACGAGCTCGGACAGGTGAGTGTGCCCCAGGCCTGGGGAGGGGACCATGGCCCCCACGGGAGTGTTCCGGGAGACCCAGCATGGTGGATGGGACATTACCTACCCTTGACCATGAGAGGCCAGGCAGGTCTGGGGACCTCCGACAGTGAGGGTAGGTGGTGCGGCCTCAAGCCCTTCTACACGGAACCCTTGGACAGGACGCTGAGCAGGGGCCAGGACACCTAAGCTCTGGGCTCTGCTCTTCCAACAAGCTGTATGACCTTGAGCAAGTCAGGCTGTCTCTCTGGGCCTTGTTCTTGTCACCTCTGAGATAAGCAGGCCAGGCCAGGTGCAGTGGCTCACATCTGTAATCCTAGGACTTTGGGAGGCCAAGGTGGACAGATTACTGGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCCCACTGGCATGTGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGAGGTGGAGGTTGCAGTGAGTGGAGATCATGCCACTTCACTCCAACCTGGGTGACATAGCAACATTCTGTCTCAAAAAAAGAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGAAAAGAAGTAAGCAGGCCGGACTGCAATCTCGAAGGACCCCTCCAGCTCTCACTACTCGACACTGGGGTAAGCAGGAAGGAGAGCTCAGTCAATCTTGGAGTTTCTCTTCTTGGACAGTCAGCAGATACAGGACATGTTACTCCGTGGCTTTCAGAGGACTTTTAACATGTGGAGAATGAAAATCTGAAATAGGGCCCAGGTGAATGAGGACTTCCTTCGAATCATCTGTGGTTGGGGATGGGAAAGGATACTCACCCCTTCACATTTCTTAGGTGCTGAACTGTGTGCCCTTGGGACATCTTTTTCTAATCTGCACAAAGACATTGCCTAAGCTGGTAGAGGCCCTGTTTCCAAGATTTTTGAACTGAAAACTGTGCCAGGCCAGGCATGGGTGCAGGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGAAGGGTCATTTGAGGCAGGAGTTCCAGACTAGCCAGGGCAACATAGCAAGACCTTGTCTCTACAAAAAGAAAAAATTAGCTGGACGTGTTGGTGTGTGCCTCAGGAGGCTGAGGTGAGAGGATTGCTTGAGCCCAGGAGGTCAAGACTGTAGGGAGTCATGGCCTCGGTTTACAGAGCAAGACCTTGTCTCAAAAAAAAAAAATGATAAAATAATGCTATGCCATAGCTGTTGATGTAAACACCAGCAGATCACAGTAGCCGACCTCCGTGTGGCTCCACGTACAATACATTTCAAGTGCGTCTTGCTTCTTCATTAGAACCACTGCATGAGACAAGAAGCTCAGGTGTGATTACCTCCATCTTGCTGATTTAGAAACCAACATCAGAGACACCAAGTGACTTGTCCAAAGTCCACAGTCACTGCCCAGCCACACCAGACTGGTCCTCTGTTTGCTTCCACACTGGTGCCTAGCGTCATAACTTAGAAGACCTCAGATACACAGGCTGAGGCTTGCGTGGGTGGCCTAGCCAGCCCTGGTCACCTGCCCCGCTGCTGCAGTCATGTTAAACTCCACAGACACACGAGCTCTGTAAGTGGCCCATTGGGCTGATGGTCCCTGGTCTCAGCCCAGCTTCAGTGGGATGAGACACCCCGACTCAGTCATTAACCCTGCACCTTCTTGTGCTTGGGTAGTACCCTAAGCAACCAAGATTCAGCAGGAAGCTGGGAGAGAGGGAGGCACAGGAATCACACTCCAAGGAAAACATCATTAGAATTGAGAGAAGACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCTAAGAAGAACTGGGGGCTGTGAAGTGGGGTGTTCTTTGTTGTGACAGCACACTA
Task1_train_3860
The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Achromatopsia
CCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACGCTCCAGAAACACACGCACAGCCATCCATCTCCCACATGGCTTCTTTAGGGCCTGTTTCGATGAGCTGCAGTCCGAGTACCTGATGCTGTGGCTGGTCCTGGACTACTCGGCAGATGTCCTGTATGTCTTGGATGTGCTTGTACGAGCTCGGACAGGTGAGTGTGCCCCAGGCCTGGGGAGGGGACCATGGCCCCCACGGGAGTGTTCCGGGAGACCCAGCATGGTGGATGGGACATTACCTACCCTTGACCATGAGAGGCCAGGCAGGTCTGGGGACCTCCGACAGTGAGGGTAGGTGGTGCGGCCTCAAGCCCTTCTACACGGAACCCTTGGACAGGACGCTGAGCAGGGGCCAGGACACCTAAGCTCTGGGCTCTGCTCTTCCAACAAGCTGTATGACCTTGAGCAAGTCAGGCTGTCTCTCTGGGCCTTGTTCTTGTCACCTCTGAGATAAGCAGGCCAGGCCAGGTGCAGTGGCTCACATCTGTAATCCTAGGACTTTGGGAGGCCAAGGTGGACAGATTACTGGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCCCACTGGCATGTGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGAGGTGGAGGTTGCAGTGAGTGGAGATCATGCCACTTCACTCCAACCTGGGTGACATAGCAACATTCTGTCTCAAAAAAAGAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGAAAAGAAGTAAGCAGGCCGGACTGCAATCTCGAAGGACCCCTCCAGCTCTCACTACTCGACACTGGGGTAAGCAGGAAGGAGAGCTCAGTCAATCTTGGAGTTTCTCTTCTTGGACAGTCAGCAGATACAGGACATGTTACTCCGTGGCTTTCAGAGGACTTTTAACATGTGGAGAATGAAAATCTGAAATAGGGCCCAGGTGAATGAGGACTTCCTTCGAATCATCTGTGGTTGGGGATGGGAAAGGATACTCACCCCTTCACATTTCTTAGGTGCTGAACTGTGTGCCCTTGGGACATCTTTTTCTAATCTGCACAAAGACATTGCCTAAGCTGGTAGAGGCCCTGTTTCCAAGATTTTTGAACTGAAAACTGTGCCAGGCCAGGCATGGGTGCAGGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGAAGGGTCATTTGAGGCAGGAGTTCCAGACTAGCCAGGGCAACATAGCAAGACCTTGTCTCTACAAAAAGAAAAAATTAGCTGGACGTGTTGGTGTGTGCCTCAGGAGGCTGAGGTGAGAGGATTGCTTGAGCCCAGGAGGTCAAGACTGTAGGGAGTCATGGCCTCGGTTTACAGAGCAAGACCTTGTCTCAAAAAAAAAAAATGATAAAATAATGCTATGCCATAGCTGTTGATGTAAACACCAGCAGATCACAGTAGCCGACCTCCGTGTGGCTCCACGTACAATACATTTCAAGTGCGTCTTGCTTCTTCATTAGAACCACTGCATGAGACAAGAAGCTCAGGTGTGATTACCTCCATCTTGCTGATTTAGAAACCAACATCAGAGACACCAAGTGACTTGTCCAAAGTCCACAGTCACTGCCCAGCCACACCAGACTGGTCCTCTGTTTGCTTCCACACTGGTGCCTAGCGTCATAACTTAGAAGACCTCAGATACACAGGCTGAGGCTTGCGTGGGTGGCCTAGCCAGCCCTGGTCACCTGCCCCGCTGCTGCAGTCATGTTAAACTCCACAGACACACGAGCTCTGTAAGTGGCCCATTGGGCTGATGGTCCCTGGTCTCAGCCCAGCTTCAGTGGGATGAGACACCCCGACTCAGTCATTAACCCTGCACCTTCTTGTGCTTGGGTAGTACCCTAAGCAACCAAGATTCAGCAGGAAGCTGGGAGAGAGGGAGGCACAGGAATCACACTCCAAGGAAAACATCATTAGAATTGAGAGAAGACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCTAAGAAGAACTGGGGGCTGTGAAGTGGGGTGTTCTTTGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTA
CCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACGCTCCAGAAACACACGCACAGCCATCCATCTCCCACATGGCTTCTTTAGGGCCTGTTTCGATGAGCTGCAGTCCGAGTACCTGATGCTGTGGCTGGTCCTGGACTACTCGGCAGATGTCCTGTATGTCTTGGATGTGCTTGTACGAGCTTGGACAGGTGAGTGTGCCCCAGGCCTGGGGAGGGGACCATGGCCCCCACGGGAGTGTTCCGGGAGACCCAGCATGGTGGATGGGACATTACCTACCCTTGACCATGAGAGGCCAGGCAGGTCTGGGGACCTCCGACAGTGAGGGTAGGTGGTGCGGCCTCAAGCCCTTCTACACGGAACCCTTGGACAGGACGCTGAGCAGGGGCCAGGACACCTAAGCTCTGGGCTCTGCTCTTCCAACAAGCTGTATGACCTTGAGCAAGTCAGGCTGTCTCTCTGGGCCTTGTTCTTGTCACCTCTGAGATAAGCAGGCCAGGCCAGGTGCAGTGGCTCACATCTGTAATCCTAGGACTTTGGGAGGCCAAGGTGGACAGATTACTGGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCCCACTGGCATGTGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGAGGTGGAGGTTGCAGTGAGTGGAGATCATGCCACTTCACTCCAACCTGGGTGACATAGCAACATTCTGTCTCAAAAAAAGAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGAAAAGAAGTAAGCAGGCCGGACTGCAATCTCGAAGGACCCCTCCAGCTCTCACTACTCGACACTGGGGTAAGCAGGAAGGAGAGCTCAGTCAATCTTGGAGTTTCTCTTCTTGGACAGTCAGCAGATACAGGACATGTTACTCCGTGGCTTTCAGAGGACTTTTAACATGTGGAGAATGAAAATCTGAAATAGGGCCCAGGTGAATGAGGACTTCCTTCGAATCATCTGTGGTTGGGGATGGGAAAGGATACTCACCCCTTCACATTTCTTAGGTGCTGAACTGTGTGCCCTTGGGACATCTTTTTCTAATCTGCACAAAGACATTGCCTAAGCTGGTAGAGGCCCTGTTTCCAAGATTTTTGAACTGAAAACTGTGCCAGGCCAGGCATGGGTGCAGGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGAAGGGTCATTTGAGGCAGGAGTTCCAGACTAGCCAGGGCAACATAGCAAGACCTTGTCTCTACAAAAAGAAAAAATTAGCTGGACGTGTTGGTGTGTGCCTCAGGAGGCTGAGGTGAGAGGATTGCTTGAGCCCAGGAGGTCAAGACTGTAGGGAGTCATGGCCTCGGTTTACAGAGCAAGACCTTGTCTCAAAAAAAAAAAATGATAAAATAATGCTATGCCATAGCTGTTGATGTAAACACCAGCAGATCACAGTAGCCGACCTCCGTGTGGCTCCACGTACAATACATTTCAAGTGCGTCTTGCTTCTTCATTAGAACCACTGCATGAGACAAGAAGCTCAGGTGTGATTACCTCCATCTTGCTGATTTAGAAACCAACATCAGAGACACCAAGTGACTTGTCCAAAGTCCACAGTCACTGCCCAGCCACACCAGACTGGTCCTCTGTTTGCTTCCACACTGGTGCCTAGCGTCATAACTTAGAAGACCTCAGATACACAGGCTGAGGCTTGCGTGGGTGGCCTAGCCAGCCCTGGTCACCTGCCCCGCTGCTGCAGTCATGTTAAACTCCACAGACACACGAGCTCTGTAAGTGGCCCATTGGGCTGATGGTCCCTGGTCTCAGCCCAGCTTCAGTGGGATGAGACACCCCGACTCAGTCATTAACCCTGCACCTTCTTGTGCTTGGGTAGTACCCTAAGCAACCAAGATTCAGCAGGAAGCTGGGAGAGAGGGAGGCACAGGAATCACACTCCAAGGAAAACATCATTAGAATTGAGAGAAGACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCTAAGAAGAACTGGGGGCTGTGAAGTGGGGTGTTCTTTGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTA
Task1_train_3861
Consider a variant on Chromosome 2 in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3). Determine its clinical classification and disease relevance.
Pathogenic; Achromatopsia 2
CCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACGCTCCAGAAACACACGCACAGCCATCCATCTCCCACATGGCTTCTTTAGGGCCTGTTTCGATGAGCTGCAGTCCGAGTACCTGATGCTGTGGCTGGTCCTGGACTACTCGGCAGATGTCCTGTATGTCTTGGATGTGCTTGTACGAGCTCGGACAGGTGAGTGTGCCCCAGGCCTGGGGAGGGGACCATGGCCCCCACGGGAGTGTTCCGGGAGACCCAGCATGGTGGATGGGACATTACCTACCCTTGACCATGAGAGGCCAGGCAGGTCTGGGGACCTCCGACAGTGAGGGTAGGTGGTGCGGCCTCAAGCCCTTCTACACGGAACCCTTGGACAGGACGCTGAGCAGGGGCCAGGACACCTAAGCTCTGGGCTCTGCTCTTCCAACAAGCTGTATGACCTTGAGCAAGTCAGGCTGTCTCTCTGGGCCTTGTTCTTGTCACCTCTGAGATAAGCAGGCCAGGCCAGGTGCAGTGGCTCACATCTGTAATCCTAGGACTTTGGGAGGCCAAGGTGGACAGATTACTGGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCCCACTGGCATGTGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGAGGTGGAGGTTGCAGTGAGTGGAGATCATGCCACTTCACTCCAACCTGGGTGACATAGCAACATTCTGTCTCAAAAAAAGAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGAAAAGAAGTAAGCAGGCCGGACTGCAATCTCGAAGGACCCCTCCAGCTCTCACTACTCGACACTGGGGTAAGCAGGAAGGAGAGCTCAGTCAATCTTGGAGTTTCTCTTCTTGGACAGTCAGCAGATACAGGACATGTTACTCCGTGGCTTTCAGAGGACTTTTAACATGTGGAGAATGAAAATCTGAAATAGGGCCCAGGTGAATGAGGACTTCCTTCGAATCATCTGTGGTTGGGGATGGGAAAGGATACTCACCCCTTCACATTTCTTAGGTGCTGAACTGTGTGCCCTTGGGACATCTTTTTCTAATCTGCACAAAGACATTGCCTAAGCTGGTAGAGGCCCTGTTTCCAAGATTTTTGAACTGAAAACTGTGCCAGGCCAGGCATGGGTGCAGGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGAAGGGTCATTTGAGGCAGGAGTTCCAGACTAGCCAGGGCAACATAGCAAGACCTTGTCTCTACAAAAAGAAAAAATTAGCTGGACGTGTTGGTGTGTGCCTCAGGAGGCTGAGGTGAGAGGATTGCTTGAGCCCAGGAGGTCAAGACTGTAGGGAGTCATGGCCTCGGTTTACAGAGCAAGACCTTGTCTCAAAAAAAAAAAATGATAAAATAATGCTATGCCATAGCTGTTGATGTAAACACCAGCAGATCACAGTAGCCGACCTCCGTGTGGCTCCACGTACAATACATTTCAAGTGCGTCTTGCTTCTTCATTAGAACCACTGCATGAGACAAGAAGCTCAGGTGTGATTACCTCCATCTTGCTGATTTAGAAACCAACATCAGAGACACCAAGTGACTTGTCCAAAGTCCACAGTCACTGCCCAGCCACACCAGACTGGTCCTCTGTTTGCTTCCACACTGGTGCCTAGCGTCATAACTTAGAAGACCTCAGATACACAGGCTGAGGCTTGCGTGGGTGGCCTAGCCAGCCCTGGTCACCTGCCCCGCTGCTGCAGTCATGTTAAACTCCACAGACACACGAGCTCTGTAAGTGGCCCATTGGGCTGATGGTCCCTGGTCTCAGCCCAGCTTCAGTGGGATGAGACACCCCGACTCAGTCATTAACCCTGCACCTTCTTGTGCTTGGGTAGTACCCTAAGCAACCAAGATTCAGCAGGAAGCTGGGAGAGAGGGAGGCACAGGAATCACACTCCAAGGAAAACATCATTAGAATTGAGAGAAGACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCTAAGAAGAACTGGGGGCTGTGAAGTGGGGTGTTCTTTGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTA
CCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACGCTCCAGAAACACACGCACAGCCATCCATCTCCCACATGGCTTCTTTAGGGCCTGTTTCGATGAGCTGCAGTCCGAGTACCTGATGCTGTGGCTGGTCCTGGACTACTCGGCAGATGTCCTGTATGTCTTGGATGTGCTTGTACGAGCTTGGACAGGTGAGTGTGCCCCAGGCCTGGGGAGGGGACCATGGCCCCCACGGGAGTGTTCCGGGAGACCCAGCATGGTGGATGGGACATTACCTACCCTTGACCATGAGAGGCCAGGCAGGTCTGGGGACCTCCGACAGTGAGGGTAGGTGGTGCGGCCTCAAGCCCTTCTACACGGAACCCTTGGACAGGACGCTGAGCAGGGGCCAGGACACCTAAGCTCTGGGCTCTGCTCTTCCAACAAGCTGTATGACCTTGAGCAAGTCAGGCTGTCTCTCTGGGCCTTGTTCTTGTCACCTCTGAGATAAGCAGGCCAGGCCAGGTGCAGTGGCTCACATCTGTAATCCTAGGACTTTGGGAGGCCAAGGTGGACAGATTACTGGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCCCACTGGCATGTGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGAGGTGGAGGTTGCAGTGAGTGGAGATCATGCCACTTCACTCCAACCTGGGTGACATAGCAACATTCTGTCTCAAAAAAAGAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGAAAAGAAGTAAGCAGGCCGGACTGCAATCTCGAAGGACCCCTCCAGCTCTCACTACTCGACACTGGGGTAAGCAGGAAGGAGAGCTCAGTCAATCTTGGAGTTTCTCTTCTTGGACAGTCAGCAGATACAGGACATGTTACTCCGTGGCTTTCAGAGGACTTTTAACATGTGGAGAATGAAAATCTGAAATAGGGCCCAGGTGAATGAGGACTTCCTTCGAATCATCTGTGGTTGGGGATGGGAAAGGATACTCACCCCTTCACATTTCTTAGGTGCTGAACTGTGTGCCCTTGGGACATCTTTTTCTAATCTGCACAAAGACATTGCCTAAGCTGGTAGAGGCCCTGTTTCCAAGATTTTTGAACTGAAAACTGTGCCAGGCCAGGCATGGGTGCAGGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGAAGGGTCATTTGAGGCAGGAGTTCCAGACTAGCCAGGGCAACATAGCAAGACCTTGTCTCTACAAAAAGAAAAAATTAGCTGGACGTGTTGGTGTGTGCCTCAGGAGGCTGAGGTGAGAGGATTGCTTGAGCCCAGGAGGTCAAGACTGTAGGGAGTCATGGCCTCGGTTTACAGAGCAAGACCTTGTCTCAAAAAAAAAAAATGATAAAATAATGCTATGCCATAGCTGTTGATGTAAACACCAGCAGATCACAGTAGCCGACCTCCGTGTGGCTCCACGTACAATACATTTCAAGTGCGTCTTGCTTCTTCATTAGAACCACTGCATGAGACAAGAAGCTCAGGTGTGATTACCTCCATCTTGCTGATTTAGAAACCAACATCAGAGACACCAAGTGACTTGTCCAAAGTCCACAGTCACTGCCCAGCCACACCAGACTGGTCCTCTGTTTGCTTCCACACTGGTGCCTAGCGTCATAACTTAGAAGACCTCAGATACACAGGCTGAGGCTTGCGTGGGTGGCCTAGCCAGCCCTGGTCACCTGCCCCGCTGCTGCAGTCATGTTAAACTCCACAGACACACGAGCTCTGTAAGTGGCCCATTGGGCTGATGGTCCCTGGTCTCAGCCCAGCTTCAGTGGGATGAGACACCCCGACTCAGTCATTAACCCTGCACCTTCTTGTGCTTGGGTAGTACCCTAAGCAACCAAGATTCAGCAGGAAGCTGGGAGAGAGGGAGGCACAGGAATCACACTCCAAGGAAAACATCATTAGAATTGAGAGAAGACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCTAAGAAGAACTGGGGGCTGTGAAGTGGGGTGTTCTTTGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTA
Task1_train_3862
Located on Chromosome 2, this mutation impacts CNGA3 (cyclic nucleotide gated channel subunit alpha 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Retinal dystrophy
CCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACGCTCCAGAAACACACGCACAGCCATCCATCTCCCACATGGCTTCTTTAGGGCCTGTTTCGATGAGCTGCAGTCCGAGTACCTGATGCTGTGGCTGGTCCTGGACTACTCGGCAGATGTCCTGTATGTCTTGGATGTGCTTGTACGAGCTCGGACAGGTGAGTGTGCCCCAGGCCTGGGGAGGGGACCATGGCCCCCACGGGAGTGTTCCGGGAGACCCAGCATGGTGGATGGGACATTACCTACCCTTGACCATGAGAGGCCAGGCAGGTCTGGGGACCTCCGACAGTGAGGGTAGGTGGTGCGGCCTCAAGCCCTTCTACACGGAACCCTTGGACAGGACGCTGAGCAGGGGCCAGGACACCTAAGCTCTGGGCTCTGCTCTTCCAACAAGCTGTATGACCTTGAGCAAGTCAGGCTGTCTCTCTGGGCCTTGTTCTTGTCACCTCTGAGATAAGCAGGCCAGGCCAGGTGCAGTGGCTCACATCTGTAATCCTAGGACTTTGGGAGGCCAAGGTGGACAGATTACTGGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCCCACTGGCATGTGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGAGGTGGAGGTTGCAGTGAGTGGAGATCATGCCACTTCACTCCAACCTGGGTGACATAGCAACATTCTGTCTCAAAAAAAGAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGAAAAGAAGTAAGCAGGCCGGACTGCAATCTCGAAGGACCCCTCCAGCTCTCACTACTCGACACTGGGGTAAGCAGGAAGGAGAGCTCAGTCAATCTTGGAGTTTCTCTTCTTGGACAGTCAGCAGATACAGGACATGTTACTCCGTGGCTTTCAGAGGACTTTTAACATGTGGAGAATGAAAATCTGAAATAGGGCCCAGGTGAATGAGGACTTCCTTCGAATCATCTGTGGTTGGGGATGGGAAAGGATACTCACCCCTTCACATTTCTTAGGTGCTGAACTGTGTGCCCTTGGGACATCTTTTTCTAATCTGCACAAAGACATTGCCTAAGCTGGTAGAGGCCCTGTTTCCAAGATTTTTGAACTGAAAACTGTGCCAGGCCAGGCATGGGTGCAGGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGAAGGGTCATTTGAGGCAGGAGTTCCAGACTAGCCAGGGCAACATAGCAAGACCTTGTCTCTACAAAAAGAAAAAATTAGCTGGACGTGTTGGTGTGTGCCTCAGGAGGCTGAGGTGAGAGGATTGCTTGAGCCCAGGAGGTCAAGACTGTAGGGAGTCATGGCCTCGGTTTACAGAGCAAGACCTTGTCTCAAAAAAAAAAAATGATAAAATAATGCTATGCCATAGCTGTTGATGTAAACACCAGCAGATCACAGTAGCCGACCTCCGTGTGGCTCCACGTACAATACATTTCAAGTGCGTCTTGCTTCTTCATTAGAACCACTGCATGAGACAAGAAGCTCAGGTGTGATTACCTCCATCTTGCTGATTTAGAAACCAACATCAGAGACACCAAGTGACTTGTCCAAAGTCCACAGTCACTGCCCAGCCACACCAGACTGGTCCTCTGTTTGCTTCCACACTGGTGCCTAGCGTCATAACTTAGAAGACCTCAGATACACAGGCTGAGGCTTGCGTGGGTGGCCTAGCCAGCCCTGGTCACCTGCCCCGCTGCTGCAGTCATGTTAAACTCCACAGACACACGAGCTCTGTAAGTGGCCCATTGGGCTGATGGTCCCTGGTCTCAGCCCAGCTTCAGTGGGATGAGACACCCCGACTCAGTCATTAACCCTGCACCTTCTTGTGCTTGGGTAGTACCCTAAGCAACCAAGATTCAGCAGGAAGCTGGGAGAGAGGGAGGCACAGGAATCACACTCCAAGGAAAACATCATTAGAATTGAGAGAAGACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCTAAGAAGAACTGGGGGCTGTGAAGTGGGGTGTTCTTTGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTA
CCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCACCCGAGTAGCTGTGACTACATATATGAGCCACCACGCCTGGCTTTTATATATATATATGTATTTTTTTTTTAGTAGAGACAGTGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTCACCTCAAATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGCTCCCGGCCTCTACTACTCTTCTAATAAGCAGAAGAGGGATTGAGGGCCTCTCCTAGGAAACCTGTTTGTGAATGCAGGGACGAGATACTGCTCCTCTTAGGGGAAGCCAGGGGCCTGGGCTTTTCTGAGCAGGCCTCCAGGGTGGGGCCACCAGAGGGAACGTTCCTGAGCACGCTGTCCACCAAGGATGCAGGACAAGCTGCTGCTTGTGGGGGCTGGCGGGGACTTTGGGGCATTTCTGAGGAAGCCTGCAGGCTGCAAGCTGCAGGACAAGGAGGAGGGATGACCTGCTGCTCTCTCTAGGTAAGCATGGGGTTTGGGGGCCCTTCCCAGCAGGCCTGCTCCAGGACACCAATGCAGGGTACACTGTTGGTCTTCTGAGGGTACACGGGAGGGCTTAGGGGACTTCCCAAGCAAGTGTGCAGGACAGGTGTGCAAAGGCAGGTCTCTTCTGAGATGTGTGGGACTGGGATGCATGCGAGAGGAGACGATGCCTCTGGGGCTCTCCGGAGCCAGTATGCAAAATGAGGATGCAGAGGCAAGTCCTGCCTGTCCTTCTGAGAGTAGGCAGTAGGCTTTGGGGCACTCCTGAGCAAGCCTGCAAGACAGAGAGCCACTGCTCTGAGAGGCTAGTTGATGAGTTTTGGGGCATTCCAGATTATGCCGCACGTCAGGGATGCCATCCACATGGAAGCAGAGGCTTTCGATTATTCGAGCATAGGCTGATCTCCTGCTCTTCGGAGGGATTGCGGGGCAGGTGAAAACTGGAAGAACTTGGAGCCTGTCCCAGCGAGCAGACAGGATGGGGTGCTTGGGCAAGCTGCTGCTCTCTGGTGCACGCGGGCTCTGGGGAGGCAGGGCTGGGCACTGTTCTCCTTCAGGTGGGCAGGAGGCTTTGGGGCGCTGAGCAAGCAGCAGGTGGGCGGCAGGGGCAGGCTGCTGTGCCCGTGAGGATAGGAGGAGAGCTGGGGGTGCTGCCTGTGTGGGAAACAGCAGAAAGATGGAGAAGGTAGAAAATATTTACTGTCTGTTCCATTGTTAATCTCTCGGAAATTCTCCTATTTTTGTTGAACTTTGACCCCAGAAAGGGCAGGTCTTTAGCCCCTTTACCTGACTCTGCCAGTGTGGCCTGGAAAACGGTACCTCCTGGGATCTTGTAGCTCTCTGCTGAGAGGCAATGGGGCCGCTCTTTGGGGTCAATCCCAGCTCTTCTCAGGAGTTCTGTGACTGTGGGACAGAAAAGCTTCTCAGAGACATCTCATCAGAAGCGGGGGTGATTACACTGAGGTAGTGACACCGCAGGCAGGGCCATTCCCATATTACATGATCCAGCGTCTTCCACACAGAGCCCGTGCCCACAGGTGGGTGGTCCACGCTCCAGAAACACACGCACAGCCATCCATCTCCCACATGGCTTCTTTAGGGCCTGTTTCGATGAGCTGCAGTCCGAGTACCTGATGCTGTGGCTGGTCCTGGACTACTCGGCAGATGTCCTGTATGTCTTGGATGTGCTTGTACGAGCTTGGACAGGTGAGTGTGCCCCAGGCCTGGGGAGGGGACCATGGCCCCCACGGGAGTGTTCCGGGAGACCCAGCATGGTGGATGGGACATTACCTACCCTTGACCATGAGAGGCCAGGCAGGTCTGGGGACCTCCGACAGTGAGGGTAGGTGGTGCGGCCTCAAGCCCTTCTACACGGAACCCTTGGACAGGACGCTGAGCAGGGGCCAGGACACCTAAGCTCTGGGCTCTGCTCTTCCAACAAGCTGTATGACCTTGAGCAAGTCAGGCTGTCTCTCTGGGCCTTGTTCTTGTCACCTCTGAGATAAGCAGGCCAGGCCAGGTGCAGTGGCTCACATCTGTAATCCTAGGACTTTGGGAGGCCAAGGTGGACAGATTACTGGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCCCACTGGCATGTGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGAGGTGGAGGTTGCAGTGAGTGGAGATCATGCCACTTCACTCCAACCTGGGTGACATAGCAACATTCTGTCTCAAAAAAAGAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGAAAAGAAGTAAGCAGGCCGGACTGCAATCTCGAAGGACCCCTCCAGCTCTCACTACTCGACACTGGGGTAAGCAGGAAGGAGAGCTCAGTCAATCTTGGAGTTTCTCTTCTTGGACAGTCAGCAGATACAGGACATGTTACTCCGTGGCTTTCAGAGGACTTTTAACATGTGGAGAATGAAAATCTGAAATAGGGCCCAGGTGAATGAGGACTTCCTTCGAATCATCTGTGGTTGGGGATGGGAAAGGATACTCACCCCTTCACATTTCTTAGGTGCTGAACTGTGTGCCCTTGGGACATCTTTTTCTAATCTGCACAAAGACATTGCCTAAGCTGGTAGAGGCCCTGTTTCCAAGATTTTTGAACTGAAAACTGTGCCAGGCCAGGCATGGGTGCAGGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGAAGGGTCATTTGAGGCAGGAGTTCCAGACTAGCCAGGGCAACATAGCAAGACCTTGTCTCTACAAAAAGAAAAAATTAGCTGGACGTGTTGGTGTGTGCCTCAGGAGGCTGAGGTGAGAGGATTGCTTGAGCCCAGGAGGTCAAGACTGTAGGGAGTCATGGCCTCGGTTTACAGAGCAAGACCTTGTCTCAAAAAAAAAAAATGATAAAATAATGCTATGCCATAGCTGTTGATGTAAACACCAGCAGATCACAGTAGCCGACCTCCGTGTGGCTCCACGTACAATACATTTCAAGTGCGTCTTGCTTCTTCATTAGAACCACTGCATGAGACAAGAAGCTCAGGTGTGATTACCTCCATCTTGCTGATTTAGAAACCAACATCAGAGACACCAAGTGACTTGTCCAAAGTCCACAGTCACTGCCCAGCCACACCAGACTGGTCCTCTGTTTGCTTCCACACTGGTGCCTAGCGTCATAACTTAGAAGACCTCAGATACACAGGCTGAGGCTTGCGTGGGTGGCCTAGCCAGCCCTGGTCACCTGCCCCGCTGCTGCAGTCATGTTAAACTCCACAGACACACGAGCTCTGTAAGTGGCCCATTGGGCTGATGGTCCCTGGTCTCAGCCCAGCTTCAGTGGGATGAGACACCCCGACTCAGTCATTAACCCTGCACCTTCTTGTGCTTGGGTAGTACCCTAAGCAACCAAGATTCAGCAGGAAGCTGGGAGAGAGGGAGGCACAGGAATCACACTCCAAGGAAAACATCATTAGAATTGAGAGAAGACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCTAAGAAGAACTGGGGGCTGTGAAGTGGGGTGTTCTTTGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTA
Task1_train_3863
Given a variant located on Chromosome 2 and affecting CNGA3 (cyclic nucleotide gated channel subunit alpha 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Achromatopsia
GACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCTAAGAAGAACTGGGGGCTGTGAAGTGGGGTGTTCTTTGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATC
GACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCTAAGAAGAACTGGGGGCTGTGAAGTGGGGTGTTCTTTGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGTTACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATC
Task1_train_3864
This genomic variant is located on Chromosome 2, within the CNGA3 (cyclic nucleotide gated channel subunit alpha 3) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Achromatopsia 2
TGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAAC
TGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCACCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAAC
Task1_train_3865
Here’s a variant in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Retinal dystrophy
TGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAAC
TGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCACCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAAC
Task1_train_3866
Consider this mutation in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is this a benign change or a disease-causing variant?
Pathogenic; Retinal dystrophy
GATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATG
GATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCAGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATG
Task1_train_3867
This sequence change occurs on Chromosome 2, altering CNGA3 (cyclic nucleotide gated channel subunit alpha 3). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Achromatopsia 2
GATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATG
GATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCAGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATG
Task1_train_3868
A change on Chromosome 2 affects gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; not provided
GATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATG
GATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCCGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATG
Task1_train_3869
The following genetic variant occurs in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Retinal dystrophy
ACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGA
ACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCAGAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGA
Task1_train_3870
This mutation is located in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Achromatopsia 2
CTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTC
CTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTTGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTC
Task1_train_3871
This sequence variant lies in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
Pathogenic; not provided
GCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATT
GCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTTCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATT
Task1_train_3872
Given this variant in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Retinal dystrophy
GCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTT
GCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCCCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTT
Task1_train_3873
A change on Chromosome 2 affects gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; not provided
AGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCA
AGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGTGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCA
Task1_train_3874
This sequence change occurs on Chromosome 2, altering CNGA3 (cyclic nucleotide gated channel subunit alpha 3). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Achromatopsia 2
GCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTT
GCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCTCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTT
Task1_train_3875
This variant affects the gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Achromatopsia 2
GTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGT
GTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCCCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGT
Task1_train_3876
Gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Retinal dystrophy
CCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTT
CCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCATGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTT
Task1_train_3877
An alteration has been detected in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Achromatopsia 2
CCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTT
CCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCATGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTT
Task1_train_3878
This genomic variant is located on Chromosome 2, within the CNGA3 (cyclic nucleotide gated channel subunit alpha 3) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Achromatopsia
AGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTC
AGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATCCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTC
Task1_train_3879
Given a variant located on Chromosome 2 and affecting CNGA3 (cyclic nucleotide gated channel subunit alpha 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Retinal dystrophy
GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCT
GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCTGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCT
Task1_train_3880
Chromosome 2 houses a mutation in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Achromatopsia
GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCT
GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCTGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCT
Task1_train_3881
An alteration has been detected in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Abnormality of the eye
GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCT
GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCTGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCT
Task1_train_3882
Here is a mutation in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Achromatopsia 2
GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCT
GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCTGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCT
Task1_train_3883
Mutation context: Chromosome 2, Gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Achromatopsia 2
TGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATA
TGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGTGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATA
Task1_train_3884
Gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Achromatopsia
TGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATA
TGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGTGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATA
Task1_train_3885
The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Retinal dystrophy
TGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATA
TGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGTGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATA
Task1_train_3886
The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Achromatopsia 3
GTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAA
GTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCTGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAA
Task1_train_3887
This sequence change occurs on Chromosome 2, altering CNGA3 (cyclic nucleotide gated channel subunit alpha 3). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Retinal dystrophy
GTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAA
GTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCTGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAA
Task1_train_3888
This mutation occurs in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Achromatopsia 2
GTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAA
GTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCTGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAA
Task1_train_3889
A genetic alteration is present in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; not provided
AATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCC
AATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTCGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCC
Task1_train_3890
The following genetic variant occurs in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; not provided
TATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCT
TATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCACCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCT
Task1_train_3891
Here’s a variant in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; not provided
CATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACC
CATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGTTATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACC
Task1_train_3892
Given this variant in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
CAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATAT
CAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCGGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATAT
Task1_train_3893
The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Retinal dystrophy
AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAA
AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCATGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAA
Task1_train_3894
This variant impacts the gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Pathogenic; Achromatopsia 3
AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAA
AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCATGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAA
Task1_train_3895
A variant was discovered in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Achromatopsia 2
AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAA
AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCATGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAA
Task1_train_3896
This is a variant in CNGA3 (cyclic nucleotide gated channel subunit alpha 3), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; CNGA3-related retinopathy
AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAA
AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCATGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAA
Task1_train_3897
Here’s a variant in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; not provided
GCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGC
GCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTGGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGC
Task1_train_3898
The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Achromatopsia 2
CCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCA
CCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCAGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCA
Task1_train_3899
A change on Chromosome 2 affects gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Retinal dystrophy
TTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTA
TTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGATGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTA