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_24900
Here is a genetic alteration in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Osteogenesis imperfecta type I
TCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA
TCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGTCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA
Task1_train_24901
This variant lies on Chromosome 17 and affects the gene COL1A1 (collagen type I alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Osteogenesis imperfecta type I
TCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGC
TCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGATCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGC
Task1_train_24902
This sequence change occurs on Chromosome 17, altering COL1A1 (collagen type I alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Osteogenesis imperfecta, perinatal lethal
CCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGG
CCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACTAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGG
Task1_train_24903
With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; OSTEOGENESIS IMPERFECTA, TYPE IIC
GGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCAT
GGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTACAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCAT
Task1_train_24904
A change on Chromosome 17 affects gene COL1A1 (collagen type I alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; not provided
GGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATG
GGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCTAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATG
Task1_train_24905
Assess the clinical impact of this variant on gene COL1A1 (collagen type I alpha 1 chain), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Osteogenesis imperfecta, perinatal lethal
GCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCC
GCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACAAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCC
Task1_train_24906
A sequence alteration has been identified in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it disease-inducing or harmless?
Pathogenic; Osteogenesis imperfecta type I
GCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCC
GCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACTAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCC
Task1_train_24907
The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Osteogenesis imperfecta type I
GGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCG
GGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCTAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCG
Task1_train_24908
This sequence variant lies in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Osteogenesis imperfecta type I
TTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTG
TTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGATCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTG
Task1_train_24909
The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; not provided
TGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGG
TGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGACAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGG
Task1_train_24910
Gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Osteogenesis imperfecta type I
GCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGC
GCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCTAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGC
Task1_train_24911
With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Osteogenesis imperfecta type III
GACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAG
GACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCATCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAG
Task1_train_24912
A variant affecting Chromosome 17, within the gene COL1A1 (collagen type I alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
Pathogenic; not provided
TTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCC
TTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGATCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCC
Task1_train_24913
Mutation context: Chromosome 17, Gene COL1A1 (collagen type I alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; not provided
TCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCC
TCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACTAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCC
Task1_train_24914
A variant has been detected on Chromosome 17 in COL1A1 (collagen type I alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; not provided
GGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGG
GGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACTAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGG
Task1_train_24915
This sequence change occurs on Chromosome 17, altering COL1A1 (collagen type I alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; not provided
GCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGG
GCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACAAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGG
Task1_train_24916
The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Osteogenesis imperfecta, perinatal lethal
GTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGC
GTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCTTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGC
Task1_train_24917
This mutation occurs in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Osteogenesis imperfecta, perinatal lethal
ACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCAC
ACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCAAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCAC
Task1_train_24918
This mutation occurs in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Osteogenesis imperfecta type I
CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCTGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
Task1_train_24919
A variant was discovered on Chromosome 17, affecting COL1A1 (collagen type I alpha 1 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCTGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
Task1_train_24920
Located on Chromosome 17, this mutation impacts COL1A1 (collagen type I alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Osteogenesis imperfecta type I
CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCTGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
Task1_train_24921
A mutation found in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Osteogenesis imperfecta, perinatal lethal
CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCTGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
Task1_train_24922
Consider this mutation in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is this a benign change or a disease-causing variant?
Pathogenic; Osteogenesis imperfecta type III
CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCTGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
Task1_train_24923
The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; COL1A1-related disorder
CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
CCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCTGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGG
Task1_train_24924
This is a variant in COL1A1 (collagen type I alpha 1 chain), located on Chromosome 17. Is this mutation a likely cause of disease or not?
Pathogenic; not provided
TCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGAT
TCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACTCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGAT
Task1_train_24925
This mutation occurs in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Osteogenesis imperfecta, perinatal lethal
CCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGA
CCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGTCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGA
Task1_train_24926
The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; not provided
AAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTC
AAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGTCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTC
Task1_train_24927
The variant affects gene COL1A1 (collagen type I alpha 1 chain), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Osteogenesis imperfecta type I
TCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGG
TCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCAGCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGG
Task1_train_24928
Located on Chromosome 17, this mutation impacts COL1A1 (collagen type I alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Osteogenesis imperfecta type I
CACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAG
CACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCTGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAG
Task1_train_24929
With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Osteogenesis imperfecta type III
CACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAG
CACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCTGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAG
Task1_train_24930
Here’s a variant in COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Osteogenesis imperfecta type I
GGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCG
GGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACTGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCG
Task1_train_24931
A variant affecting Chromosome 17, within the gene COL1A1 (collagen type I alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Osteogenesis imperfecta, perinatal lethal
ATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCA
ATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCTAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCA
Task1_train_24932
This sequence change occurs on Chromosome 17, altering COL1A1 (collagen type I alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Osteogenesis imperfecta type I
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAACTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
Task1_train_24933
A variant found in Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Osteogenesis imperfecta
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAACTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
Task1_train_24934
A variant found in Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Osteogenesis imperfecta type I
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
Task1_train_24935
A variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
Task1_train_24936
A mutation found in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Infantile cortical hyperostosis
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
Task1_train_24937
Here’s a variant in COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Osteoporosis
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
Task1_train_24938
Given this variant in gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
Task1_train_24939
The gene COL1A1 (collagen type I alpha 1 chain), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
Task1_train_24940
Located on Chromosome 17, this mutation impacts COL1A1 (collagen type I alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Osteogenesis imperfecta, perinatal lethal
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
Task1_train_24941
This mutation occurs in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Osteogenesis imperfecta type III
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
Task1_train_24942
The following genetic variant occurs in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Osteogenesis imperfecta type I
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
GATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAAGCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCA
Task1_train_24943
Given a variant located on Chromosome 17 and affecting COL1A1 (collagen type I alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; COL1A1-related disorder
ATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCAC
ATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACTTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCAC
Task1_train_24944
The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; not provided
GCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCA
GCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCAGCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCA
Task1_train_24945
A mutation in COL1A1 (collagen type I alpha 1 chain), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Osteogenesis imperfecta type I
CTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCAC
CTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACAAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCAC
Task1_train_24946
This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; not provided
TTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGC
TTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCTCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGC
Task1_train_24947
This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
Task1_train_24948
A variant affecting Chromosome 17, within the gene COL1A1 (collagen type I alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
Task1_train_24949
The variant affects gene COL1A1 (collagen type I alpha 1 chain), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Osteogenesis imperfecta, perinatal lethal
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
Task1_train_24950
A variant affecting Chromosome 17, within the gene COL1A1 (collagen type I alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Osteogenesis imperfecta type III
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
Task1_train_24951
With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Osteogenesis imperfecta type I
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
Task1_train_24952
This mutation is located in gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Infantile cortical hyperostosis
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
Task1_train_24953
Given a variant located on Chromosome 17 and affecting COL1A1 (collagen type I alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Postmenopausal osteoporosis
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
Task1_train_24954
Here is a mutation in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Osteogenesis imperfecta type I
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
GAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACATCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAG
Task1_train_24955
The gene COL1A1 (collagen type I alpha 1 chain), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
CAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAA
CAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCAACCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAA
Task1_train_24956
Mutation context: Chromosome 17, Gene COL1A1 (collagen type I alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; not provided
GGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAA
GGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCTGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAA
Task1_train_24957
This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Osteogenesis imperfecta, perinatal lethal
CCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGG
CCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACAAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGG
Task1_train_24958
This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Osteogenesis imperfecta type I
CAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCC
CAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCTAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCC
Task1_train_24959
With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Osteogenesis imperfecta, perinatal lethal
GGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTAT
GGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCAAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTAT
Task1_train_24960
The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Osteogenesis imperfecta type I
TTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGG
TTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTGCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGG
Task1_train_24961
This gene mutation involves COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
Pathogenic; not provided
TAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGG
TAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCTAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGG
Task1_train_24962
Chromosome 17 houses a mutation in gene COL1A1 (collagen type I alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; not provided
ACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGC
ACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCAACCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGC
Task1_train_24963
Here’s a variant in COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; not provided
TCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAG
TCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACAAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAG
Task1_train_24964
With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; See cases
TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTG
TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCTGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTG
Task1_train_24965
Given a variant located on Chromosome 17 and affecting COL1A1 (collagen type I alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Osteogenesis imperfecta type III
TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTG
TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCTGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTG
Task1_train_24966
This gene mutation involves COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
Pathogenic; Osteogenesis imperfecta type I
TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTG
TATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCTGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTG
Task1_train_24967
The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Osteogenesis imperfecta type I
GAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGC
GAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACGCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGC
Task1_train_24968
Here is a mutation in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Osteogenesis imperfecta type I
GAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGC
GAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACTCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGC
Task1_train_24969
A mutation on Chromosome 17 affecting COL1A1 (collagen type I alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Osteogenesis imperfecta type I
GTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTG
GTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGGCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTG
Task1_train_24970
Consider a variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain). Determine its clinical classification and disease relevance.
Pathogenic; Osteogenesis imperfecta, perinatal lethal
GTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTG
GTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGTCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTG
Task1_train_24971
A variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Osteogenesis imperfecta type I
GGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGG
GGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTGCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGG
Task1_train_24972
Given a variant located on Chromosome 17 and affecting COL1A1 (collagen type I alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Osteogenesis imperfecta type I
GGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGC
GGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCTGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGC
Task1_train_24973
Given this variant in gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Osteogenesis imperfecta type III
AGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCAC
AGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACTAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCAC
Task1_train_24974
Mutation context: Chromosome 17, Gene COL1A1 (collagen type I alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
AGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCAC
AGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACTAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCAC
Task1_train_24975
A variant was discovered in gene COL1A1 (collagen type I alpha 1 chain), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
ATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACT
ATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCTGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACT
Task1_train_24976
A variant affecting Chromosome 17, within the gene COL1A1 (collagen type I alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Osteogenesis imperfecta type I
ATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACT
ATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCTGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACT
Task1_train_24977
Gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Osteogenesis imperfecta, perinatal lethal
AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCT
AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGACAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCT
Task1_train_24978
The variant affects gene COL1A1 (collagen type I alpha 1 chain), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Osteogenesis imperfecta type I
AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCT
AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGGCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCT
Task1_train_24979
This alteration occurs within gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; COL1A1-related disorder
AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCT
AAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGGCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCT
Task1_train_24980
This sequence variant lies in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; not provided
TTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGA
TTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCTGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGA
Task1_train_24981
This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; not provided
CAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGG
CAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCAACACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGG
Task1_train_24982
A genetic alteration is present in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Osteogenesis imperfecta type I
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
Task1_train_24983
Mutation context: Chromosome 17, Gene COL1A1 (collagen type I alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Osteogenesis imperfecta, perinatal lethal
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
Task1_train_24984
Consider a variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain). Determine its clinical classification and disease relevance.
Pathogenic; Osteogenesis imperfecta type III
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
Task1_train_24985
This alteration occurs within gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
Task1_train_24986
The gene COL1A1 (collagen type I alpha 1 chain), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Postmenopausal osteoporosis
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
Task1_train_24987
An alteration has been detected in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Infantile cortical hyperostosis
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
Task1_train_24988
The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
Task1_train_24989
Mutation context: Chromosome 17, Gene COL1A1 (collagen type I alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Osteogenesis imperfecta type I
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
AGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCTGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAG
Task1_train_24990
Assess the clinical impact of this variant on gene COL1A1 (collagen type I alpha 1 chain), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
CTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGG
CTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACTAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGG
Task1_train_24991
Gene COL1A1 (collagen type I alpha 1 chain), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; not provided
CCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGC
CCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCAAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGC
Task1_train_24992
With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
Task1_train_24993
A variant found in Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
Task1_train_24994
This sequence change occurs on Chromosome 17, altering COL1A1 (collagen type I alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Osteogenesis imperfecta, perinatal lethal
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
Task1_train_24995
The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Osteogenesis imperfecta type III
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
Task1_train_24996
Given a variant located on Chromosome 17 and affecting COL1A1 (collagen type I alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Infantile cortical hyperostosis
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
Task1_train_24997
A sequence alteration has been identified in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it disease-inducing or harmless?
Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
Task1_train_24998
The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Osteogenesis imperfecta type I
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
Task1_train_24999
The gene COL1A1 (collagen type I alpha 1 chain), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Osteoporosis
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC