Table 2 The list of data sources for MyVariant.info. Column 1 lists the names of all 14 data sources included in MyVariant.info. Column 2 lists the version of each data source. Column 3 shows the number of variants from each data source included in MyVariant.info. Column 4 lists the URL for each data source

dbNSFP

v3.0c

82,030,830

https://sites.google.com/site/jpopgen/dbNSFP

[46]

dbSNP

v144

145,132,257

http://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/snp/

[18]

ClinVar

2015-09

114,627

http://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/clinvar/

[25]

EVS

v2

1,977,300

http://evs.gs.washington.edu/EVS/

[47]

CADD

v1.2

163,690,986

http://cadd.gs.washington.edu/

[23]

MutDB

-

420,221

http://www.mutdb.org/

[48]

GWAS Catalog

From UCSC

15,243

http://www.ebi.ac.uk/gwas/

[49]

COSMIC

v68 from UCSC

1,024,498

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

[50]

DOCM

-

1119

http://docm.genome.wustl.edu/

[51]

SNPedia

-

5907

http://www.snpedia.com/index.php/SNPedia

[52]

EMVClass

-

12,066

http://geneticslab.emory.edu/emvclass/emvclass.php

[53]

Wellderly

-

21,240,519

http://www.stsiweb.org/wellderly/

[54]

ExAC

v0.3

10,195,872

http://exac.broadinstitute.org/

[22]

GRASP

v2.0.0.0

2,212,148

http://grasp.nhlbi.nih.gov/Overview.aspx

[55]