Question: MAF specification TCGA : Variant_Classification
0
gravatar for crichard
17 months ago by
crichard0
crichard0 wrote:

Hello everyone,

I saw some post about how to handle with the mutation annotated files of the TCGA but I did not find an answer to my question in the forum or on the nhi/ nci wiki : MAF Specification.

I downloaded some MAF files from the Broad GDAC Firehose : Mutation_Packager_Calls_Level_3. I want to be limited to the mutations considered as functional or potentially functional. So first, I want to filter variants by their "Variant_Classification" field but I have some problems to find the meaning of some possibilities.

Can someone explain me what is "R", "RNA" "Read-through", "Splice_Site_SNP" and "Targeted_Region" and if there are considered as functional variants ?

Thanks a lot,

Best regards,

Corentin

ADD COMMENTlink modified 17 months ago • written 17 months ago by crichard0
Please log in to add an answer.

Help
Access

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.
Powered by Biostar version 2.3.0
Traffic: 1394 users visited in the last hour