Example of AnnotSV and Annovar

Some examples of Annotating using AnnotSV or Annovar

96MB

samplehg002_AnnotSV.tsv

Here's an example of annotating SVs in Hg002 using AnnotSV

13MB

Hg002_Annovar_head30000lines.csv

Here's an example of annotating SNVs in Hg002 using Annovar. Because whole file too large, we cut the head 30000 lines.

4KB

pathogenic.csv

Here's a pathogenic variant found from a patient in our medical center. This was found out based on SUMMER pipeline and Annovar annotation, most importantly regarding the exon position, rare allele frequency and predicted protein damage. Further confirmed in disease association, clinical symptom and co-segregation.