Everything you need to know about your database.

Below you will find a summary of your database including the number of variants in various categories of effect. Rare variants are defined as occurring at a frequency of less than 1% in ExAC, ESP and 1000 Genomes. All variant counts are of VCF QC-passed variants except the "Total Variants" count.



Database variants summary:

TitleAll VariantsRare Variants
Total Variants98303 11794
Total Passed Variants91163 9429
Intergenic Variants12288 1437
Intergenic Variants With ENCODE Element6147 711
Intergenic Variants With >15 CADD9 0
Low Impact Variants71567 7571
Low Impact Synonymous10956 433
Low Impact Intronic47786 5655
Low Impact Up/Downstream11971 1356
Medium Impact18055 1597
Medium Impact Polyphen2 Damaging1086 222
Medium Impact SIFT Damaging1803 299
Medium Impact Polyphen2 & SIFT Damaging597 137
Medium Impact With >15 CADD4195 628
Medium Impact Conserved12221 1141
High Impact948 197
High Impact Stop Gained179 25
High Impact Stop Lost62 0
High Impact Frame Shift461 142
High Impact Splice Acceptor99 9
High Impact Splice Donor93 13
High Impact Splice Site192 22
High Impact High Confidence Loss of Function530 141
High Impact Low Confidence Loss of Function161 22

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