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_25000
A genomic change on Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Osteogenesis imperfecta type I
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
Task1_train_25001
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
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
GAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCTAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACC
Task1_train_25002
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
AGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTC
AGAGTCAGCCGGGGAAGAGGGCTTAGGCAAGGCCACAATGGCCATGCTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGAACACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTC
Task1_train_25003
This alteration in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Osteogenesis imperfecta type I
CTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGG
CTGAGGGTACTGGCATGGGGGCTGGGGACTGCTCACCTCACGTCCAGATTCACCAGGGGGTCCAGCCAATCCAGGGGGGCCCATGGGACCAGGGGGACCACGTTCACCACTTGCTCCAGAGGGACCTTGTTTGCCAGGTTCACCCTAAGGGAGAAGAAAGAGTCAGGCCAGAGATAGGGTCTGGGAGGACCCTTGAGTCCGCTGGAGTCATCTCTACCAAATCTGTTCTCCTTGGCTCCGCCCCACTCCAAGTCCTGTGATGGTTTTTCTCAGGGCCCCCCAAGGTGAGGGGGGCACTTACAGAGGGGCCAGGAAGACCAGGGAAGCCTCTCTCTCCTCTCTGACCAGGCAGGCCGACCACACCACGCTGTCCAGCAATACCTTGAGGCCCGGGAGTACCAGGAGCACCCTTTGGGAGGCAAACAGGGGTGAGGTGCCAGAGAGCAGCACAGGGACCCCTCCCCAGCTCTGCACACCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACTAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGG
Task1_train_25004
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
CCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGG
CCTCCGGAGCTGCAGAGATCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCAACCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGG
Task1_train_25005
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, perinatal lethal
TCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAG
TCTGAGCTGGCACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGATCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAG
Task1_train_25006
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
CACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTT
CACTTACAGCAGGACCATCAGCACCAGGGGATCCTTTCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACTACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTT
Task1_train_25007
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
TCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGA
TCTCGCCAGCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCTCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGA
Task1_train_25008
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; Osteogenesis imperfecta, perinatal lethal
GCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAAT
GCAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTATCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAAT
Task1_train_25009
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
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACAGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
Task1_train_25010
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
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
Task1_train_25011
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; Osteoporosis
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
Task1_train_25012
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; Osteogenesis imperfecta with normal sclerae, dominant form
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
Task1_train_25013
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; Osteogenesis imperfecta type III
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
Task1_train_25014
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
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
Task1_train_25015
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
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
Task1_train_25016
This genomic variant is located on Chromosome 17, within the COL1A1 (collagen type I alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Infantile cortical hyperostosis
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
Task1_train_25017
This genomic variant is located on Chromosome 17, within the COL1A1 (collagen type I alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
Task1_train_25018
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; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
CAGGGCCAGGGGGACCAGGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACTGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATC
Task1_train_25019
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; not provided
GGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGG
GGGGGACCAACTTCACCAGGACGTCCAGCAGGGCCAGTCTCACCACGGGGACCTTTGCCGCCTTCTTTGCCAGCAGGACCAGGAGGGCCAGGGGGTCCAGCATTTCCCTGGATGAGGATAGGAGGGGCTGTCAGACTCCAGGGGGCTCTGGTGCATCATTGGGTCCTCAGTCAGCCCCACCATCCTTCTGGCAGCCCCCACCCAGCACCCCCAACCTAGAGCAGTGGACTCTGCTGCAGAGACTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGCACCAGGGAAACCAGTAGCACCCTGGAAGGAGAGAACATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCATCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGG
Task1_train_25020
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
CATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCAC
CATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCATCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCAC
Task1_train_25021
Gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; not provided
ATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACA
ATAGGAACAGTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACTATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACA
Task1_train_25022
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
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCAGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
Task1_train_25023
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; Osteogenesis imperfecta type III
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCAGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
Task1_train_25024
This alteration in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Osteogenesis imperfecta, perinatal lethal
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCTGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
Task1_train_25025
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
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCTGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
Task1_train_25026
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; not specified
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
GTCAGAGGGAGAACAGCCAACTCATCCGACCCAGCTGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCTGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTC
Task1_train_25027
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 III
TGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTT
TGCCCTCACCTGCCACCGCTGCCTGGGGAGAGGGGAGAGGCTCAACAGAGAGGCGGGTGATACTCACAGGGGGACCAGCGCTGCCGCGAGCACCTTTGGCTCCAGGAGCACCAACATTACCCTGTAGGAGAGCACAGAGGCATCAAGCCTGGACCCGTCCTGGGTCCCAGCCCACCAGCCTCGTGGGCACAGAGGGCCAAGCCACTCACAATGGGGCCAGGGGGTCCAGCGGGTCCGGCAGGGCCAGGGGGACCAGCATCGCCTTTAGCACCAGCATCACCAGGTTCGCCTTTAGCACCAGGTTGGCCGTCAGCACCCTGGGGGAGGAAGCAGGGCGGTGAATGGAGGGAAGGAGGCAGGAGTTTCCACTACCTGGGGGAGGAGCAGTAATGGAGGCAGGAAGATGCTTGGGTGGGAAACAATCCCGTCTCCACCCTTCTCCCCTGAGGATGGCTGACGCCTTTGTCCTCATTCCGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGAGCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTT
Task1_train_25028
Consider a variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain). Determine its clinical classification and disease relevance.
Pathogenic; not provided
GGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTT
GGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACTCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTT
Task1_train_25029
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, perinatal lethal
GAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGC
GAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATACGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGC
Task1_train_25030
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 type I
GAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGC
GAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATGCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGC
Task1_train_25031
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
AGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCG
AGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTTGTCACCAGGGGCACCAGCAGGGCCAGGAGGACCAATGGGGCCAGTCAGACCACGGACGCCATCTTTGCCAGGAGAGCCATCAGCACCTTTGGGACCAGCATCACCCTAAAGACATGGATAAGCTTGAGATTTCCAGTGTGGGGCAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCTGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCG
Task1_train_25032
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
CAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTT
CAAGGAGGTGACCTATAGTGTTCTGCTTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCTGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTT
Task1_train_25033
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 type I
TTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAG
TTGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGGCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAG
Task1_train_25034
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; Osteoporosis
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
Task1_train_25035
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; Osteogenesis imperfecta type I
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
Task1_train_25036
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; Infantile cortical hyperostosis
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
Task1_train_25037
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 with normal sclerae, dominant form
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
Task1_train_25038
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; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
Task1_train_25039
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; Ehlers-Danlos syndrome, arthrochalasia type
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
Task1_train_25040
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, perinatal lethal
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
Task1_train_25041
A genomic change on Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Osteogenesis imperfecta type III
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
TGTGTCTGGGTTTCCTGAGAGGCCCTCTGCAGCTCTGCCCTGCCTCCACCTGGGCCAAGGACTCAAAGATTCTTTCAGGAAAAAGGGTGCCTGCCTGGAGACTCAGGTGGAACTGAGGTTAAGAGGCCCCTGACTTGTGTAGCGGGATGAATAAGGGAGCCTCCACCAAGGAGATGCCCCCACCTCTCATCACCATGGTAACCCATGGGGATAGATGGGCCTGGACCACAGGGAGAGGATTCATCAGCAAAAAGGCCAGAGGGGAAAGGGGAAGAAGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGAGAGATTCAAAGCAGGCAGAGATGGGAGCCATGTAGGGCTCAGGGGAGGGGGAAGGTTGAACTTACTCTGTCACCCTTAGGCCCTGGAAGACCAGCTGCACCACGTTCACCAGGCATTCCCTGAAGGCCAGGGGCGCCCTGGCTACCGGGAGCTCCAGGGGCACCAGCATCACCCTATGTGACAACCAAGAAGACTGGAGTGAGGCCTGGGGCCCCAAGAGTGGGTCACAGCCCTAAGCCCCGCTTGGTATCTCCCAGGCTTGTTTCCAAGGCCAACGACAAGCCTTGAGAAAAGATGAAAAGACTCACAGCCCAGACTCCAGGCTGTGTGTGGGCCCCTGCCCTGGTCTTTTCCCCCCACCCCACACCCTATCTCCATGGCTTTGGTCATGGCCCGCCATCCCCTGCTGCAGGAGGGGTGAGACCTGGTCCCTGGGCCACTTGCCAGAGCCCCTTCCACGCTGCCCTCACCTTAGCACCATCGTTGCCGGGAGCACCGTTGGCCCCTCGGGGACCAGCAGGACCAGGGGGACCTTGCACACCACGCTCGCCAGGGAAACCTCTCTCGCCCTAGAAGGGAAGGACAGGGCATGTGAAGGCTGCTCTGGAGATAGGGCCAAGTACGACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCAGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGG
Task1_train_25042
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, perinatal lethal
TGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCC
TGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCGTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCC
Task1_train_25043
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; not provided
AGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCA
AGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCTGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCA
Task1_train_25044
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; Ehlers-Danlos syndrome
GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTC
GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACTGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTC
Task1_train_25045
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
GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTC
GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACTGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTC
Task1_train_25046
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
GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTC
GCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACTGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTC
Task1_train_25047
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; not provided
GGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTC
GGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGATCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTC
Task1_train_25048
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; not provided
CTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTC
CTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACTCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTC
Task1_train_25049
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
CCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCT
CCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGATCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCT
Task1_train_25050
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 type I
CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCA
CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACAGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCA
Task1_train_25051
Given this context: Chromosome 17, gene COL1A1 (collagen type I alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Osteogenesis imperfecta type III
CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCA
CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACTGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCA
Task1_train_25052
Here is a variant affecting COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Osteogenesis imperfecta type I
CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCA
CTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGTCCCTCTGGATTCCCTGCATCTCCCACCCCTCTGGCCGGCTGCTCCCTCTTACCTGTTCACCAGGTTTGCCTGCTTCACCTGGAGGACCAGCAGGACCAGGGAGACCCTGTAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACTGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCA
Task1_train_25053
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
TAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAG
TAGGTGGGAAATGGGGGAAGAAGGGAGGGAAGGTTTAGAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGAGCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAG
Task1_train_25054
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; Osteogenesis imperfecta type I
GAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACT
GAATCTGGAAGAGACCAAAGAGGTGTTTCCTACCCCTACCTCCCAGCATCCTGACAGCCATGAGGCCTCACCTGGAATCCGGGGGAGCCAGCAGGGCCTTGTTCACCTCTCTCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACTAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACT
Task1_train_25055
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; Osteogenesis imperfecta type I
TCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATC
TCGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGGCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATC
Task1_train_25056
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
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCGGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
Task1_train_25057
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; Ehlers-Danlos syndrome, arthrochalasia type
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
Task1_train_25058
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; Osteogenesis imperfecta type I
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
Task1_train_25059
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; Osteoporosis
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
Task1_train_25060
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 with normal sclerae, dominant form
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
Task1_train_25061
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; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
Task1_train_25062
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, perinatal lethal
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
Task1_train_25063
This variant impacts the gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
Pathogenic; Osteogenesis imperfecta type III
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
Task1_train_25064
This variant impacts the gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
Pathogenic; Infantile cortical hyperostosis
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
GACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCTGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTC
Task1_train_25065
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
GACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCG
GACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTGCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCG
Task1_train_25066
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; Osteogenesis imperfecta, perinatal lethal
TGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGT
TGGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCAACCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGT
Task1_train_25067
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; not provided
GGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTG
GGAGAAAGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACTCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTG
Task1_train_25068
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
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
Task1_train_25069
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; Osteoporosis
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
Task1_train_25070
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
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
Task1_train_25071
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 with normal sclerae, dominant form
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
Task1_train_25072
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; Osteogenesis imperfecta, perinatal lethal
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
Task1_train_25073
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; Infantile cortical hyperostosis
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
Task1_train_25074
Consider a variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain). Determine its clinical classification and disease relevance.
Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
Task1_train_25075
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 type III
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
Task1_train_25076
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; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
CTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCTGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAG
Task1_train_25077
Gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Osteogenesis imperfecta type I
TTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCA
TTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGTCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCA
Task1_train_25078
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; Osteogenesis imperfecta type I
CCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTT
CCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCAGCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTT
Task1_train_25079
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 with normal sclerae, dominant form
CCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTT
CCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCAGCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTT
Task1_train_25080
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 type I
GCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCA
GCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCTATCCCCACGTGTCGGGGTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACTCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCA
Task1_train_25081
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
GTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCC
GTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACATTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCC
Task1_train_25082
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; Infantile cortical hyperostosis
GTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCC
GTGGAGGGCCACCAACAACACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACGTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCC
Task1_train_25083
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
CACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGG
CACTTATTTCCAGGACAGAGCAGTGGTCATGGAGCCTGGAGAAGTGTTTCATTTTTTCTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTGAGATGGAATCTCGCACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCTATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGG
Task1_train_25084
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
GGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACT
GGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGGCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACT
Task1_train_25085
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
GCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCT
GCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCAGCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCT
Task1_train_25086
This variant affects the gene COL1A1 (collagen type I alpha 1 chain) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
CAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTT
CAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACTAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTT
Task1_train_25087
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
CAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTT
CAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACTAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTT
Task1_train_25088
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; Osteogenesis imperfecta type I
CTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCC
CTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGGCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCC
Task1_train_25089
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
CCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGT
CCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACTACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGT
Task1_train_25090
This variant impacts the gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
Pathogenic; not provided
TCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGA
TCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACAACCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGA
Task1_train_25091
This variant affects the gene COL1A1 (collagen type I alpha 1 chain) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Osteogenesis imperfecta
CCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAA
CCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACACTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAA
Task1_train_25092
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; not provided
CAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCC
CAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCTCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCC
Task1_train_25093
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 type I
ACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAG
ACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACAAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAG
Task1_train_25094
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
ACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAG
ACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACTAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAG
Task1_train_25095
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
GGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCT
GGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACACTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCT
Task1_train_25096
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
GGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCT
GGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACTCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCT
Task1_train_25097
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 I
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCTGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
Task1_train_25098
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; Osteoporosis
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCTGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
Task1_train_25099
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 III
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG
CATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGGAAACCACGGCTACCAGGTCCACCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTACACGCTCGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGGGCCAGGGGGTCCTTGAACACCAACAGGGCCCTGGAGAGGGCCGAGAGGAGGAGGCGGCCTGTGGTGAGGGGCCATCCTGTGCCAGCCTCAGAGCCGGCTGAGGCTGGGCCTCCAGTGTCAGGGGTTCCTGGGGGTGTGGCAGGGACTCCCCCAGAAGACTAGGGGCTCCTCTTCCTTTCTGGATTTCCCTCAGGGGGCTCCTAGGGCAGGGTGGGCTGGGCTGCAAGAAGGATGGCGGGGAGACTTACAGGCTCTCCCTTAGCACCAGTGTCTCCTTTGCTGCCAGGAGCACCAGGTTCACCCTGCAAGGGGGGAGAAGAGGATGAGCTGAGAGTCGGGGGCGCTCAGTTGGCCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAGCAACAGGCAAGGACTCTGAGGTTAGAAAGTGGCAAAGGGGACACTGAGTCGGGGACACTTACAGCAGGGCCAGCAGCACCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCTGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCCCTGCCCTCTGGAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCTGAGCTAGACTAAACCCCAACTGGCTCTAGATCTCACCCAATCGTTTAATCGGGACTGCTTTCCCATGGAGGGAGGTGCTTTTGGATGTCCACTCTCTGTCCCTTGGGACTTCTGTAGCTGCCACCCACCATGATGCAACTCAGTATCTTTTGGGGAAGAGGTTGGGACTGGATGGGGGTATGCTAGGGACTTGGGGAGCTTAAATGACTCAAAGGTGACTCACTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGGAGAGAGATGAAGAAGACAAGGAAGGGCCATTAGAACACATCACTGTGGACCCAGCTCCTAAATGAAGCCCAAGTGCAGTGAAGCCCAGGTTCAGCCACAGCCCCCTGCTCACCTGAGGCCCAGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAAAGATCATTGTTCCAGGGCAGTCCGTGCATCAGAGAGGACTTGCCCTCCTTCCTCTGAGTATCGTTCCCAAATGTGGTGGAGTGGAAATTGCAGGACCCAACCCATGGAGGCCATGGGGTCAGATGGTATCTTCTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAG