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5.0 years ago
Esther Brasil
▴
40
I have a set of 700 mutations that I need to download from GnomAD. My first problem was: the mutation rs489693 can be found in the browser but it is not present in the VCF file (gnomad.genomes.r2.1.1.sites.18.vcf.bgz).
I searched also by the position 57882787.
Why this mutation is not present in the VCF file, but can be found via browsing? I believe I am missing some important concept. I hope someone can help me.
You used the complete vcf. I used only the 18th chromosome. Maybe that is the reason.
No, I found it using chr18:
thanks Pierre for taking your time to test it! The only difference I could conceive is the way I uncompressed the file. I used the nautilus utility. I realized that the size is much smaller (73Gb) while uncompressing with gunzip (100Gb).