Table 1 Genetic mutations with single nucleotide variant of mutant allele frequency > 5% detected only in tumors and bile ducts compared to normal tissue

Genes

Amino acid

Type

Reference

Allele

Tumor

(Carcinoma)

Bile duct

(Hyperplasia)

Normal tissue

(Pancreas)

ERBB2

p.S310Y

SNV

C

A, T

81.95%

POU5F1

p.R201Q

SNV

C

T

12.43%

FLT1

p.D974N

SNV

C

T

9.91%

NCOA2

p.E189K

SNV

C

T

8.00%

KMT2D

p.P3621R

SNV

G

C

7.14%

EZH2

p.R313Q

SNV

C

T

6.73%

CSMD3

p.R2944T

SNV

C

G

6.60%

TSC2

p.S1132L

SNV

C

T

6.20%

MARK1

p.R771H

SNV

G

A

6.02%

AKAP9

p.S3767L

SNV

C

T

5.51%

NUP214

p.V1720A

SNV

T

C

5.26%

RB1

p.V735I

SNV

G

A

5.08%

KIT

p.H263Q

SNV

T

G

11.03%

ERBB4

p.R488Q

SNV

C

T

7.75%

MITF

p.S258L

SNV

C

T

7.61%

UBR5

p.I810V

SNV

T

C

5.77%

USP9X

p.R2551Q

SNV

G

A

5.19%