Patient | Gene | Genomic position (hg19) | Transcript | Coding | Protein | C-score (CADD) | pLI | Z-score (missense mutations) |
---|---|---|---|---|---|---|---|---|
30 | AGO1 | chr1:36359345 | NM_012199.2 | c.583G>A | p.Glu195Lys | 31 | 1 | 6.53 |
31 | JARID2 | chr6:15501447 | NM_004973.3 | c.2255C>T | p.Pro752Leu | 31 | 1 | 3.7 |
32 | SIN3B | chr19:16940261 | NM_015260.2 | c.31_31delA | p.Ser11fs | 22.3 | 0.99 | 4.34 |
33 | FBXO11 | chr2:48035301 | NM_001190274.1 | c.2738_2739delAT | p.Tyr913Ter | 35 | 1 | 4.03 |
34 | MAP3K7 | chr6:91228271 | NM_145331.2 | c.1535C>T | p.Pro512Leu | 34 | 1 | 2.5 |
35 | HDAC2 | chr6:114281152 | NM_001527.3 | c.83G>A | p.Gly28Asp | 25.8 | 1 | 4.34 |
36 | SMARCC2 | chr12:56571880 | NM_003075.3 | c.1311–3C>G | splicing | 16 | 1 | 4.26 |
The last three columns contain the CADD score for prediction of pathogenicity (C-score), as well as the statistics for conservative restrictions in each gene obtained from the Exome Aggregation Consortium dataset: pLI, probability of loss-of-function intolerance; Z-score, measure of departure of number of observed missense variants from the expected number. Positive Z-scores indicate increased constraint (intolerance to variation) and therefore that the gene had fewer variants than expected (see http://exac.broadinstitute.org/faq for further information).