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Table 3 Druggability case study. The protein coding change for variants are shown separated by a colon after the gene symbol. Databases listing the drug-gene interaction are abbreviated (T=TEND, M = My Cancer Genome)

From: CVE: an R package for interactive variant prioritisation in precision oncology

Variant

Patient id

dbNSFP score

COSMIC

Drug

Database

EPHA2:p.S790F

26, 52

1.768360

 

tyrosine kinase inhibitor

T

EPHA2:p.E607K

48, 87

1.737764

 

tyrosine kinase inhibitor

T

GART:p.S635F

50, 56

0

 

folate antimetabolite

T

KDR:p.S1100F

16, 45, 75

2.679266

 

tyrosine kinase inhibitor

T & M

KIT:p.K642E

3, 27, 31, 70

2.454228

yes

tyrosine kinase inhibitor

T & M

KIT:p.V559A

25, 38

2.650527

yes

tyrosine kinase inhibitor

T & M

LHCGR:p.E206K

44, 45

0.77191

yes

GnRH agonist

T

MS4A1:p.G115E

52, 79

0

 

anti-CD20 antibody

T & M

MTOR:p.A1105T

65, 66

0.8908875

yes

mTOR inhibitor

T & M

PDCD1:p.E211K

34, 51

0

 

anti-PD1 antibody

M

PIK3C2G:p.E1231K

23, 48

0

 

PI3K inhibitor

M

PRKCB:p.R361Q

44, 50

0.959385

 

protein kinase C inhibitor

M

ROS1:p.P1539S

20, 26

0

 

tyrosine kinase inhibitor

M