the sentinel eQTL for a given tissue/transcript combination were considered significant. The genes implicated by these eQTL databases and/or coding changes (e.g., missense and nonsense SNVs) were put into ConsensusPathDB [44] to identify whether these genes were over-represented in any known biological pathways. Replicated missense SNVs were also put into PolyPhen-2 [45] and FATHMM (unweighted) [46] to obtain variant effect prediction.
