Gene | Variant | Amino acid change | Abundance/copy | Variant type |
---|---|---|---|---|
CHEK2 | c.472delA | p.I158fs | Heterozygous | Frameshift (germline) |
GATA1 | c.907C>G | p.Q303E | 79.40% | Missense |
TERT | c.-124C>T | – | 71.00% | Promoter mutation |
STAG2 | c.1408G>T | p.E470X | 65.30% | Nonsense |
KDM6A | c.3361_3384delinsT | p.H1121fs | 60.00% | Frameshift |
ERCC2 | c.713A>G | p.N238S | 59.40% | Missense |
ARID1A | c.2183_2208del26 | p.P728fs | 53.30% | Frameshift |
PIK3CA | c.1637A>C | p.Q546P | 30.30% | Missense |
CDH1 | c.2222_2250del29 | p.L741fs | 22.90% | Frameshift |
INHBA | c.362C>T | p.S121L | 49.90% | Missense |
SF3B1 | c.961G>T | p.D321Y | 49.50% | Missense |
SPEN | c.1604G>A | p.R535Q | 47.90% | Missense |
NOTCH3 | c.539C>T | p.S180F | 47.70% | Missense |
PCBP1 | c.910G>A | p.E304K | 42.60% | Missense |
FAT4 | c.760C>T | p.H254Y | 39.00% | Missense |
IRS2 | c.379G>A | p.E127K | 35.70% | Missense |
IPO7 | c.1957G>A | p.E653K | 33.60% | Missense |
ACVR2A | c.821C>T | p.S274L | 32.60% | Missense |
CDH1 | c.1613A>G | p.D538G | 32.20% | Missense |
CDK12 | c.2629G>A | p.D877N | 32.20% | Missense |
TBX3 | c.1285G>A | p.D429N | 26.60% | Missense |
ERCC3 | c.1274G>A | p.R425Q | 26.30% | Missense |
SF3B1 | c.2704G>A | p.E902K | 26.00% | Missense |
VTCN1 | c.458C>G | p.P153R | 25.50% | Missense |
KIF5B | c.2208A>C | p.Q736H | 25.00% | Missense |
NOTCH3 | c.1636G>T | p.V546L | 24.90% | Missense |
TXNDC8 | c.109A>G | p.R37G | 24.00% | Missense |
MALT1 | c.955G>A | p.E319K | 23.90% | Missense |
BICC1 | c.2698G>A | p.D900N | 23.30% | Missense |
MYCL | c.694C>T | p.H232Y | 23.20% | Missense |
ZNF521 | c.680A>G | p.N227S | 23.10% | Missense |
PTPRK | c.1603G>C | p.D535H | 21.90% | Missense |
TACC3 | c.772G>A | p.E258K | 21.00% | Missense |
PREX2 | c.3079C>T | p.Q1027X | 19.00% | Nonsense |
MUC17 | c.6295G>A | p.E2099K | 16.70% | Missense |
KMT2C | c.871C>G | p.L291V | 14.50% | Missense |
DDX5 | c.907G>A | p.G303S | 14.00% | Missense |
INHBA | c.485C>T | p.P162L | 13.30% | Missense |
AR | c.179A>T | p.Q60L | 1.80% | Missense |
CDK12 | c.3494C>T | p.S1165F | 1.70% | Missense |
ATRX | c.3875C>T | p.S1292L | 1.30% | Missense |
FGFR3 | FGFR3-TACC3 | – | 9.02% | Gene fusion |
EGFR | – | – | 1.72 | Amplification |
MYCN | – | – | 1.61 | Amplification |
AR | – | – | 1.56 | Amplification |
FGFR1 | – | – | 1.55 | Amplification |
CDKN2A | – | – | 0.30 | Deletion |
CDKN2B | – | – | 0.30 | Deletion |