From: Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient
Position | Gene name | Mutation type | Mutant allele frequency from exome sequencing | cDNA change | Protein change | Polyphen score | Mutant allele frequency from sanger sequencing | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
OV | OMN | REC | OV | OMN | REC | ||||||
chr10:106124579 | CCDC147 | nonsynonymous SNV | 0.31 | 0.45 | 0.52 | c.G529T | p.A177S | 0.29 | 0.40 | 0.71 | 0.76 |
chr17:38173081 | CSF3 | nonsynonymous SNV | 0.26 | 0.49 | 0.66 | c.C493T | p.P162S | 0.61 | 0.23 | 0.43 | 0.58 |
chr15:64496758 | CSNK1G1 | nonsynonymous SNV | 0.31 | 0.50 | 0.48 | c.C881G | p.R294T | 1.00 | 0.46 | 0.57 | 0.57 |
chr17:11696980 | DNAH9 | nonsynonymous SNV | 0.24 | 0.42 | 0.62 | c.A8222C | p.D2741A | 0.12 | 0.21 | 0.36 | 0.56 |
chr4:88533803 | DSPP | nonsynonymous SNV | 0.27 | 0.61 | 0.52 | c.T465A | p.N155K | 0.96 | 0.20 | 0.51 | 0.45 |
chr20:33874597 | FAM83C | nonsynonymous SNV | 0.16 | 0.44 | 0.40 | c.G1985A | p.T662M | 0.00 | 0.17 | 0.30 | 0.38 |
chr6:5369392 | FARS2 | nonsynonymous SNV | 0.2 | 0.36 | 0.35 | c.G589A | p.V197M | 1.00 | 0.16 | 0.35 | 0.36 |
chr14:25076412 | GZMH | nonsynonymous SNV | 0.17 | 0.40 | 0.37 | c.G540T | p.Y180X | NA | 0.15 | 0.28 | 0.33 |
chr10:126477647 | METTL10 | nonsynonymous SNV | 0.14 | 0.57 | 0.60 | c.T256C | p.I86V | 0.06 | 0.19 | 0.58 | 0.40 |
chrX:153040228 | PLXNB3 | nonsynonymous SNV | 0.17 | 0.21 | 0.19 | c.G3898C | p.G1323R | 0.06 | 0.29 | 0.33 | 0.37 |
chr12:3692299 | PRMT8 | nonsynonymous SNV | 0.30 | 0.55 | 0.55 | c.G904A | p.D302N | 1.00 | 0.35 | 0.57 | 0.58 |
chr2:65316194 | RAB1A | nonsynonymous SNV | 0.18 | 0.37 | 0.39 | c.T299C | p.N100S | 0.00 | 0.23 | 0.62 | 0.54 |
chr7:122338859 | RNF133 | nonsynonymous SNV | 0.17 | 0.36 | 0.34 | c.C114T | p.W38X | NA | 0.15 | 0.32 | 0.40 |
chrX:30870990 | TAB3 | nonsynonymous SNV | 0.09 | 0.37 | 0.39 | c.C1615T | p.E539K | 0.07 | 0.15 | 0.33 | 0.36 |
chr1:234565362 | TARBP1 | nonsynonymous SNV | 0.28 | 0.50 | 0.53 | c.C2671T | p.D891N | 1.00 | 0.34 | 0.45 | 0.57 |
chr17:7579358 | TP53 | nonsynonymous SNV | 0.21 | 0.47 | 0.68 | c.C329G | p.R110P | 0.85 | 0.02 | 0.44 | 0.47 |
chr7:158824649 | VIPR2 | nonsynonymous SNV | 0.13 | 0.63 | 0.59 | c.G1081T | p.L361M | 1.00 | 0.03 | 0.72 | 0.77 |
chr16:72828578 | ZFHX3 | nonsynonymous SNV | 0.23 | 0.54 | 0.58 | c.C8003T | p.R1754Q | 0.45 | 0.17 | 0.56 | 0.53 |
chr19:58420819 | ZNF417 | nonsynonymous SNV | 0.19 | 0.56 | 0.5 | c.G827C | p.S276C | 0.89 | 0.15 | 0.41 | 0.42 |
chr17:29554310 | NF1 | splice site SNV | 0.16 | 0.56 | 0.48 | c.G2325+1A | NA | NA | 0.18 | 0.12 | 0.63 |
chr19:46192605 | SNRPD2 | splice site SNV | 0.31 | 0.58 | 0.55 | c.G3-781A | NA | NA | 0.26 | 0.62 | 0.63 |
chr3:195022735-195022753 | ACAP2 | frameshift deletion | 0. 15 | 0.41 | 0.55 | c.1267_1285del | p.R423Wfs*26 | NA | NA | NA | NA |
chr1:201983017-201983030 | ELF3 | frameshift deletion | 0.17 | 0.15 | 0.34 | c.866_879del | p.N289Kfs*7 | NA | NA | NA | NA |
chr13:108922263-108922263 | TNFSF13B | frameshift deletion | 0.17 | 0.36 | 0.31 | c.20delG | p.E8Sfs*15 | NA | 0.21 | 0.22 | 0.37 |