Rare variant test set. BienStephanie A. AuerPaul L. A. HarrisonTabitha QuConghui ConnollyCharles M. GreensidePeyton G. ChenSai I. BerndtSonja BézieauStéphane M. KangHyun HuygheJeroen BrennerHermann CaseyGraham T. ChanAndrew L. HopperJohn BanburyBarbara L. Chang-ClaudeJenny J. ChanockStephen W. HaileRobert HoffmeisterMichael FuchsbergerChristian A. JenkinsMark M. LealSuzanne LemireMathieu A. NewcombPolly GallingerSteven D. PotterJohn E. SchoenRobert L. SlatteryMartha D. SmithJoshua MarchandLoic Le WhiteEmily W. ZankeBrent AbeçasisGoncalo R. S. CarlsonChristopher PetersUlrike A. NickersonDeborah KundajeAnshul HsuLi 2017 <p>Variant sets were anchored on Transcription Start Sites (TSS) as defined by protein coding gene transcripts with validated RefSeq records. If a gene had multiple TSS, the 5'-most and 3'-most TSS were used as anchors. Accordingly, variants overlapping ARE within 200Kb of a TSS were pooled into a test set.</p>