Are Cosmic Mutations Only In Exonic Regions?
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10.3 years ago
kanwarjag ★ 1.2k

I am little confused while working with my own WGS data, I used Variant analysis work flow, which in one step keeps mutations that has been reported >5% of COSMIC database. When I see my final list of mutations I see lot of small variations in UTR, promotes. Then I looked at the entry of COSMIc mutations- of around 200 SVs there are only 20 entries of COSMIC mutations in my dataset. My question is all COSMIc mutations are only in exonic regions ? Thanks and apology for a very naive question

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I think that this is because most of the COSMIC data comes from exome sequencing. Let's see if someone more experienced than me can confirm it.

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10.3 years ago

COSMIC is gene-centric because of its history, but the variants are not only exonic. The data do not come entirely from exome sequencing (or from NGS, for that matter).

The most recent NEWS entry describes some of the details about where the COSMIC data are obtained.

http://cancer.sanger.ac.uk/cosmic/news

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