Table 3 Somatic mutations identified by whole exome sequencing of a single borderline phyllodes tumour
From: MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours
Chrom | Gene | Site of mutation | Annotation | % of reads with mutation |
|---|---|---|---|---|
chr1 | RBM15 | Exonic | RBM15:NM_001201545:exon1:c.A583T:p.K195X: stopgain | 64.20% |
chr1 | VASH2 | Splicing | VASH2:NM_024749:exon4:c.366-1G>C | 61.54% |
chr11 | ROBO3 | Splicing | ROBO3:NM_022370:exon12:c.1785-4G>T | 44.44% |
chr11 | TRIM49C | Exonic | TRIM49C:NM_001195234:exon3:c.T185C:p.I62T | 41.63% |
chr3 | CAND2 | Exonic | CAND2:NM_001162499:exon10:c.A2030G:p.D677G | 40.23% |
chr15 | PLA2G4F | Exonic | PLA2G4F:NM_213600:exon1:c.27delG: frameshift deletion | 37.88% |
chr2 | NEB | Exonic | NEB:NM_001164507:exon37:c.G4182T:p.K1394N | 35.97% |
chr10 | ENKUR | Exonic | ENKUR:NM_145010:exon2:c.T198A:p.H66Q, | 35.26% |
chr1 | YIPF1 | Exonic | YIPF1:NM_018982:exon4:c.T89C:p.I30T, | 34.45% |
chr5 | PCDHA11 | Exonic | PCDHA11:NM_031861:exon1:c.C1446A:p.D482E | 32.03% |
chrX | FAM58A | Exonic | Unknown | 21.86% |
chr12 | LIMA1 | Splicing | LIMA1:NM_016357:exon9:c.973-3G>- | 20.83% |
chr1 | CACNA1S | Splicing | CACNA1S:NM_000069:exon5:c.399-6T>C | 17.43% |
chr15 | ZNF280D | Splicing | ZNF280D:NM_017661:exon11:c.781-8C>- | 16.28% |
chr14 | RALGAPA1 | Splicing | RALGAPA1:NM_014990:exon11:c.1012-8G>-, | 15.58% |
chr19 | SSC5D | Exonic | SSC5D:NM_001144950:exon14:c.T4361C:p.L1454P | 15.38% |
chr11 | BRSK2 | Exonic | BRSK2:NM_001256630:exon1:c.A17C:p.H6P, | 15.15% |
chr20 | BCAS4 | Exonic | BCAS4:NM_198799:exon2:c.T191G:p.V64G | 15% |
