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How to annotate Copy Number Variations (Output of VarScan2)

Hi,

I ran this command:

samtools mpileup -q 1 -f hg38.fa normal.sorted.bam tumor.sorted.bam | java -jar VarScan.v2.4.3.jar copynumber varScan --mpileup 1

and this is a part of the output:

> chrom  chr_start  chr_stop  num_positions  normal_depth  tumor_depth  log2_ratio  gc_content
> chr1  13217   13316   100     17.4     14.1   -0.301  61
> chr1  13317   13395   79      18.3     13.3   -0.458  53.2
> chr1  65848   65942   95      10.7     2.5    -2.1    44.2

I searched a lot to see how can be annotated but no success yet. Can any one suggest any tools to annotate this CNV output?

Many thanks!

cnv varscan annotation

Did you solved your problem?

1 answer

first idea: use bedtools intersect with a bed file chrom/start/end/gene to see if those positions intersect with a gene...

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