NCV Overview

This tab shows an overview for the specified non-coding variant (NCV). The graphic is an embedded COSMIC Genome Browser (JBrowse) zoomed to the region of the NCV. For much easier navigation click 'Full-screen view' to open the genome browser in a new window

Non-coding variants are usually defined by whole genome screening and occur either in 
the intronic regions of genes or in intergenic regions of the genome. 

They are annotated using syntax derived from HGVS nomenclature recommendations 

The 'g.' format of the syntax denotes genomic coordinates, eg chr19:g.34210730C>T 
which is a C to T substitution at nucleotide 34,210,730 on chromosome 19.

NCV Overview - Details

This tab shows more detailed information for the non-coding variant (NCV) including mutation type and sample/tissue and data source links. The genome location is also shown along with links to the Ensembl and COSMIC Genome Browser. Also included is the FATHMM-MKL score, with values ≥ 0.7 indicating functional significance. Please see for more information about the FATHMM-MKL algorithm, and the 'Mutation Impact' section of Cancer Genome Annotation for help interpreting the scores.

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