Table 3. The location-specific recurrence of somatic variants in the 43 cancer panel genes.
Gene | Variantsa | Mutated samples | % of mutated samples | COSMIC counts | COSMIC ID |
---|---|---|---|---|---|
APC | p.Glu1464ValfsTer8 | 2 | 1.90% | 45 | COSM1432412; COSM19694; COSM41622; COSM41622; COSM41622; COSM5030795 |
ARID1A | p.Asp1850ThrfsTer33 | 5 | 4.70% | 27 | COSM1341426; COSM133001; COSM1666860 |
ARID1A | p.Gln1334del/dup | 23 | 21.50% | 23 | COSM1341408; COSM298325; COSM1578346; COSM133030; COSM51218; COSM1238047 |
ARID1A | p.Gly87del | 2 | 1.90% | (-) | |
BCOR | p.Gln1174ThrfsTer8 | 3 | 2.80% | 5 | COSM1683572; COSM3732385 |
BRAF | p.Pro403LeufsTer8 | 2 | 1.90% | 7 | COSM1448632; COSM5347158; COSM5347157 |
CCND1 | p.Glu280del | 7 | 6.50% | 3 | COSM931394 |
CDH1 | p.Leu15del | 5 | 4.70% | (-) | |
CR1 | p.Arg2194Ter | 10 | 9.30% | 20 | COSM301989 |
ERBB2 | p.Arg678Gln | 4 | 3.70% | 23 | COSM978678; COSM436498 |
ERBB2 | p.Ser310Phe | 2 | 1.90% | 51 | COSM48358; COSM1666868 |
ERBB2 | p.Val842Ile | 2 | 1.90% | 26 | COSM14065; COSM1666633 |
ERBB3 | p.Val104Met | 2 | 1.90% | 21 | COSM20710 |
FBXW7 | p.Arg385His | 3 | 2.80% | 41 | COSM117308 |
HLA-B | p.Glu69Val | 2 | 1.90% | 3 | COSM4598273 |
KRAS | p.Gly13Asp | 5 | 4.70% | 5039 | COSM532 |
LARP4B | p.Thr163HisfsTer47 | 2 | 1.90% | 27 | COSM1638669; COSM4968611 |
MVK | p.Ala141ArgfsTer18 | 2 | 1.90% | 17 | COSM1241457 |
PIK3CA | p.His1047Arg | 4 | 3.70% | 2115 | COSM775 |
PGM5 | p.Ile98Val | 3 | 2.80% | 47 | COSM1109610 |
RHOA | p. Arg5Gln/Trp | 3 | 2.80% | 23 | COSM446704; COSM190569; COSM4770224; COSM4770223 |
RHOA | p.Thr37Ala/Ile | 2 | 1.90% | 3 | COSM5064959; COSM1223700 |
RHOA | p.Tyr42Cys | 2 | 1.90% | 22 | COSM2849892; COSM4770225 |
TP53 | p.Arg248Trp | 2 | 1.90% | 56 | COSM144150 |
TP53 | p.Arg342Ter | 2 | 1.90% | 151 | COSM11073 |
TP53 | p.Cys275Tyr | 2 | 1.90% | 62 | COSM10893 |
TP53 | p.Val173Leu | 2 | 1.90% | 65 | COSM43559 |
ZBTB20 | p.Pro619LeufsTer43 | 5 | 4.70% | 26 | COSM267785 |
aRecurrent mutations observed in at least two samples.