Table 6 132 pfsSNVs that satisfy key pfsSNVs identification criteria.

From: Distribution bias analysis of germline and somatic single-nucleotide variations that impact protein functional site and neighboring amino acids

Gene Name

UniProtAC

Variation

Functional site

Gene Name

UniProtAC

Variation

Functional site

BCOR

Q6W2J9

N1459S

[G]Phosphorylation

TP53

P04637

N239D

[L]Binding Site

BRAF

P15056

L597R

[L]Binding Site

TP53

P04637

C242S

[L]Binding Site

CTNNB1

P35222

T41A

[L]Phosphorylation

TP53

P04637

R273L

[L]Binding Site

CTNNB1

P35222

S33C

[L]Phosphorylation

TP53

P04637

R280T

[L]Binding Site

CTNNB1

P35222

S33F

[L]Phosphorylation

TP53

P04637

N239S

[L]Binding Site

CTNNB1

P35222

S37C

[L]Phosphorylation

TP53

P04637

C275F

[L]Binding Site

CTNNB1

P35222

S37F

[L]Phosphorylation

TP53

P04637

C176S

[L]Binding Site

CTNNB1

P35222

S45F

[L]Phosphorylation

TP53

P04637

H179L

[L]Binding Site

CTNNB1

P35222

T41I

[L]Phosphorylation

TP53

P04637

R273S

[L]Binding Site

CTNNB1

P35222

S45P

[L]Phosphorylation

TP53

P04637

C238S

[L]Binding Site

CTNNB1

P35222

S33Y

[L]Phosphorylation

TP53

P04637

R273P

[L]Binding Site

CTNNB1

P35222

S37Y

[L]Phosphorylation

TP53

P04637

A276P

[L]Binding Site

CTNNB1

P35222

S33P

[L]Phosphorylation

TP53

P04637

R280G

[L]Binding Site

CTNNB1

P35222

S37A

[L]Phosphorylation

TP53

P04637

C238R

[L]Binding Site

CTNNB1

P35222

S37P

[L]Phosphorylation

TP53

P04637

S241Y

[L]Binding Site

CTNNB1

P35222

S33A

[L]Phosphorylation

TP53

P04637

R280S

[L]Binding Site

CTNNB1

P35222

S45C

[L]Phosphorylation

TP53

P04637

H179Q

[L]Binding Site

CTNNB1

P35222

S45Y

[L]Phosphorylation

TP53

P04637

S241C

[L]Binding Site

EGFR

P00533

T790M

[L]Binding Site

TP53

P04637

C242R

[L]Binding Site

HRAS

P01112

Q61L

[L]Binding Site

TP53

P04637

C277F

[L]Binding Site

HRAS

P01112

Q61K

[L]Binding Site

TP53

P04637

H179D

[L]Binding Site

HRAS

P01112

Q61R

[L]Binding Site

TP53

P04637

H179N

[L]Binding Site

HRAS

P01112

Q61H

[L]Binding Site

TP53

P04637

R273G

[L]Binding Site

IDH1

O75874

R132H

[L]Binding Site

TP53

P04637

C277Y

[L]Binding Site

IDH1

O75874

R132C

[L]Binding Site

TP53

P04637

S241A

[L]Binding Site

IDH1

O75874

R132G

[L]Binding Site

TP53

P04637

C242W

[L]Binding Site

IDH1

O75874

R132L

[L]Binding Site

TP53

P04637

R248G

[L]Binding Site

IDH1

O75874

R132S

[L]Binding Site

TP53

P04637

R248P

[L]Binding Site

IDH2

P48735

R172K

[L]Binding Site

TP53

P04637

R280I

[L]Binding Site

IDH2

P48735

R172S

[L]Binding Site

TP53

P04637

C176R

[L]Binding Site

KRAS

P01116

Q61H

[L]Binding Site

TP53

P04637

C275W

[L]Binding Site

KRAS

P01116

Q61K

[L]Binding Site

TP53

P04637

C176W

[L]Binding Site

KRAS

P01116

Q61L

[L]Binding Site

TP53

P04637

C275R

[L]Binding Site

KRAS

P01116

Q61R

[L]Binding Site

TP53

P04637

A276D

[L]Binding Site

NCOR1

O75376

Y20S

[G]Phosphorylation

TP53

P04637

A276T

[L]Binding Site

NRAS

P01111

Q61R

[L]Binding Site

TP53

P04637

R337C

[L]Methylation

NRAS

P01111

Q61K

[L]Binding Site

TP53

P04637

R213L

[L]Methylation

NRAS

P01111

Q61L

[L]Binding Site

TP53

P04637

R110L

[L]Methylation

NRAS

P01111

Q61H

[L]Binding Site

TP53

P04637

R213Q

[L]Methylation

NRAS

P01111

Q61E

[L]Binding Site

TP53

P04637

R110P

[L]Methylation

PIK3CA

P42336

E545K

[G]Phosphorylation

TP53

P04637

R213P

[L]Methylation

PIK3CA

P42336

E542K

[G]Phosphorylation

TP53

P04637

R337L

[L]Methylation

PIK3CA

P42336

N345K

[G]Phosphorylation

TP53

P04637

R110C

[L]Methylation

PIK3R1

P27986

N564D

[L]Binding Site

TP53

P04637

R209K

[L]Methylation

PTEN

P60484

R130G

[L]Active Site

TP53

P04637

R337H

[L]Methylation

PTEN

P60484

R130Q

[L]Active Site

TP53

P04637

S215R

[L]Phosphorylation

PTEN

P60484

D92E

[L]Active Site

TP53

P04637

T155N

[L]Phosphorylation

PTEN

P60484

Y155C

[L]Phosphorylation

TP53

P04637

T155I

[L]Phosphorylation

PTEN

P60484

Y68H

[L]Phosphorylation

TP53

P04637

S215I

[L]Phosphorylation

RB1

P06400

R661W

[L]Binding Site

TP53

P04637

T211I

[L]Phosphorylation

SF3B1

O75533

K700E

[L]Ubiquitylation

TP53

P04637

T155P

[L]Phosphorylation

SMAD4

Q13485

R361H

[L]Binding Site

TP53

P04637

S215G

[L]Phosphorylation

SMAD4

Q13485

R361C

[L]Binding Site

TP53

P04637

S215N

[L]Phosphorylation

TP53

P04637

R273H

[L]Binding Site

TP53

P04637

T155A

[L]Phosphorylation

TP53

P04637

H179Y

[L]Binding Site

TP53

P04637

T284P

[L]Phosphorylation

TP53

P04637

C176F

[L]Binding Site

TP53

P04637

K132N

[L]Ubiquitylation

TP53

P04637

C275Y

[L]Binding Site

TP53

P04637

K132R

[L]Ubiquitylation

TP53

P04637

C176Y

[L]Binding Site

TP53

P04637

K132E

[L]Ubiquitylation

TP53

P04637

H179R

[L]Binding Site

TP53

P04637

K132M

[L]Ubiquitylation

TP53

P04637

C238F

[L]Binding Site

TP53

P04637

K132Q

[L]Ubiquitylation

TP53

P04637

C242F

[L]Binding Site

TP53

P04637

K139N

[L]Ubiquitylation

TP53

P04637

R248L

[L]Binding Site

TP53

P04637

K132T

[L]Ubiquitylation

TP53

P04637

S241F

[L]Binding Site

TP53

P04637

K164E

[L]Acetylation

TP53

P04637

C242Y

[L]Binding Site

TP53

P04637

R273C

[L]Binding Site

TP53

P04637

C238Y

[L]Binding Site

TP53

P04637

R248Q

[L]Binding Site

TP53

P04637

R280K

[L]Binding Site

TP53

P04637

R248W

[L]Binding Site

  1. Key pfsSNVs identification criteria: gene present in the list of 260 significantly mutated gene (SMG) set; gene present in the list of 573 cancer gene consensus (CGC) gene set; pfsSNV either exists across multiple cancer types or significantly associates with specific cancer type.
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