Detailed information of variant


DNArails Genomics Annotation Platform provides a varaints table after you analyzed results in CANCER-RELATED, DISEASE-RELATED, and FUNCTIONAL PREDICTION pages. The table fields of each page has slighly different depending on the type. You can see the representation of table and column description with the following mapping:

 

Click DOWNLOAD FILTERED VARIANTS TABLE at the top of table to download the all information of variants.  Your download will be start from default sorting and the maximum total variants are 10,000 variants. If you want to download more or all variant, please go to the Analyses page and click DOWNLOAD.

 

Click on each row in the variants table will show more information about the selected variant below the table. There are four categories of information with each variant in the platform: DETAIL, FREQUENCT, FUNCTIONAL PREDICTION, and BOOKMARK.  

 
1. DETAIL

The default information of gene annotation is from Refseq and show in the variants table. Click DETAIL to view the gene annotation of reported varaints from CytoBand, CCDS, ENSEMBL, and KNOWNGENE. You can compare the gene annotation from different databases at the same time.

  

 

2. FREQUENCY

This platform provides 10 allele frequency (AF) information that are 6 genomes and 4 exomes.

The genome AF including:

1) 1000 Genome Project Phase 3

2) Genome Aggregation database (gnomAD) genome

3) UK10K

4) Taiwan BioBank 

5) Complete Genomics 

6) Known VARiants (Kaviar)

The exomes AF including:

1) Exome Aggregation Consortium (ExAC)

2) NHLBI Exome sequencing Project (ESP6500)

3) Genome Aggregation Database (GnomAD) exomes

4) Greater Middle East Variome

 

3. FUNCTIONAL PREDICTION

The distribution of score can view in the page. This platform provides 13 published scores and our Dr. Score to see the degree of conservation and deleterious in each variant.

 
4. BOOKMARK

You can save your private finding when you use the BOOKMARK function.


The “BOOKMARK” function is a personalized annotation and storage for individual variant in your account. You can depend on your finding evidence to fill in the appropriate information. We provide the five optional items for your private annotation including Classification, Evidence, Disease Name, Disease Description, and Reference. After you click the SAVE BOOKMARK, you can see a book symbol in the first column with this variant and update the content at any time later. The next time when you analyze other samples and see the book symbol in table, which means that you have previously found the same variant and annotated by yourself before.

 TIP  How to quickly know if some variants have been found in your private finding?

Type the “bookmark” with no case-sensitive in search box. The table will only leave a list of variants that have been annotated by yourself before.