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 Variants6474526 1171783
Total Passed Variants6211517 980597
Intergenic Variants3070387 498432
Intergenic Variants With ENCODE Element462772 55323
Intergenic Variants With >15 CADD24338 1578
Low Impact Variants6186644 978475
Low Impact Synonymous15497 591
Low Impact Intronic2997887 465360
Low Impact Up/Downstream633280 117391
Medium Impact23281 1877
Medium Impact Polyphen2 Damaging1236 214
Medium Impact SIFT Damaging2247 313
Medium Impact Polyphen2 & SIFT Damaging747 148
Medium Impact With >15 CADD4440 559
Medium Impact Conserved13005 841
High Impact1592 245
High Impact Stop Gained188 30
High Impact Stop Lost63 5
High Impact Frame Shift589 100
High Impact Splice Acceptor292 45
High Impact Splice Donor418 62
High Impact Splice Site710 107
High Impact High Confidence Loss of Function0 0
High Impact Low Confidence Loss of Function0 0

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