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Table 1 Details of the non-synonymous variants found in the study. No domain = no domain present at site of mutation; No predicted domain = no domains predicted by ScanProsite in the protein

From: Molecular portrait of squamous cell carcinoma of the bovine horn evaluated by high-throughput targeted exome sequencing: a preliminary report

Chromosome

Position

Reference

Alternate

Sample observed in

Variant details

Gene

dbSNP ID/remarks

Domain at variant position as per ScanProsite

Profiles with high probability of occurrence

PROVEAN score, Prediction (cutoff = −2.5)

chr7

2,464,501

G

A

Blood

c.343G > A p.Val115Met

HIST3H2A

rs110683125

No domain

 

−1.566, Neutral

chr10

95,036,026

A

G

Blood

c.803 T > C p.Leu268Ser

STON2

novel

No domain

N-glycosylation site

0.156, Neutral

chr16

48,710,798

G

A

Blood

c.1216G > A p.Ala406Thr

PERM1

rs132949042; different variant in different assembly

No predicted domain

 

−0.322, Neutral

chr18

56,842,100

G

A

Blood

c.46C > T p.Leu16Phe

KLK4

rs207879743

No domain

 

−1.194, Neutral

chr1

82,070,747

C

G

Tissue

c.935C > G p.Ala312Gly

KNG1

rs43705174

Kininogen-type cystatin domain; Cysteine proteases inhibitors signature

 

−1.941, Neutral

chr1

130,202,956

C

T

Tissue

c.596G > A p.Ser199Asn

SLC25A36

novel

Solute carrier (Solcar) repeat

Protein kinase C phosphorylation site

−1.306, Neutral

chr2

99,269,960

C

G

Tissue

c.355G > C p.Glu119Gln

MDH1B

rs209212339

No predicted domain

 

−1.616, Neutral

chr6

6,791,420

G

C

Tissue

c.173G > C p.Ser58Thr

FABP2

rs43450379; no missense variant details available

No domain

 

0.71, Neutral

chr6

6,791,467

G

C

Tissue

c.220G > C p.Ala74Pro

FABP2

rs209700321, rs43450380; no missense variant details available

No domain

Casein kinase II phosphorylation site

−3.07, Deleterious

chr7

2,464,214

C

G

Tissue

c.56C > G p.Ser19Cys

HIST3H2A

novel

No domain

Protein kinase C phosphorylation site

−3.878, Deleterious

chr10

75,128,451

T

A

Tissue

c.1112A > T p.Lys371Met

KRT8

novel

Intermediate filament (IF) rod domain

 

−5.471, Deleterious

chr10

75,128,460

C

T

Tissue

c.1103G > A p.Arg368Lys

KRT8

novel

Intermediate filament (IF) rod domain

 

−0.198, Neutral

chr10

75,128,467

C

T

Tissue

c.1096G > A p.Ala366Thr

KRT8

novel

Intermediate filament (IF) rod domain

 

−3.519, Deleterious

chr10

75,128,854

C

T

Tissue

c.709G > A p.Glu237Lys

KRT8

novel

Intermediate filament (IF) rod domain

 

−1.535, Neutral

chr10

75,129,398

C

T

Tissue

c.165G > A p.Met55Ile

KRT8

novel

No domain

 

−0.094, Neutral

chr10

103,727,085

C

T

Tissue

c.158G > A p.Gly53Glu

FOXN3

rs208438463

No domain

 

−2.22, Neutral

chr11

101,809,760

C

G

Tissue

c.2298C > G p.Asp766Glu

TTC16

novel

No domain

Casein kinase II phosphorylation site

0.715, Neutral

chr12

35,754,313

T

G

Tissue

c.493A > C p.Thr165Pro

SAP18

novel

No predicted domain

 

1.027, Neutral

chr13

16,992,516

T

G

Tissue

c.83A > C p.Asn28Thr

YME1L1

rs209048457

No domain

 

−0.964, Neutral

chr15

47,201,978

G

C

Tissue

c.380C > G p.Ala127Gly

LOC616948

rs209504468

Zinc finger B-box type

 

4.546, Neutral

chr18

55,254,392

C

A

Tissue

c.1057C > A p.Pro353Thr

PPP1R15A

novel

No predicted domain

 

1.818, Neutral

chr23

27,580,458

T

G

Tissue

c.433A > C p.Ile145Leu

JSP.1

rs42311131

No domain

 

−1.142, Neutral

chr23

27,580,953

A

T

Tissue

c.134 T > A p.Ile45Asn

JSP.1

novel

No domain

 

0.088, Neutral

chr23

27,637,398

T

C

Tissue

c.535A > G p.Arg179Gly

BOLA

another variant of same position exists (rs135180180, leading to ter codon)

No domain

 

−2.647, Deleterious

chr29

30,399,904

A

G

Tissue

c.1012A > G p.Thr338Ala

EI24

rs42178224

No predicted domain

Protein kinase C phosphorylation site

0.308, Neutral