Table 1 Somatic Mutation Profile of paired Primary and Metastatic CRC

1

APC

c.3871C > T

1291

15

Novel

N/A

N/A

N/A

 + 

 + 

c.4468_4474delCATTTTG

1490–92

15

Novel

N/A

N/A

N/A

 + 

 + 

KRAS

c.35G > T

12

2

Deleterious (0)

Probably damaging(0.984)

Pathogenic (0.98)

 + 

Wild

c.183A > T

61

3

Deleterious (0)

Possibly damaging(0.486)

Pathogenic (0.93)

 + 

 + 

TP53

c.518T > C

173

5

Deleterious (0)

Probably damaging(0.996)

Pathogenic (0.99)

 + 

 + 

c.536A > G

179

5

Deleterious (0)

Probably damaging(0.993)

Pathogenic (0.99)

 + 

Wild

SMAD4

c.1496G > A

499

9

Deleterious (0)

Probably damaging(0.997)

Pathogenic (0.98)

 + 

 + 

2

APC

c.3707_3708delCA

1236

15

N/A

N/A

N/A

 + 

 + 

c.4033G > T

1345

15

N/A

N/A

Pathogenic (0.85)

 + 

 + 

c.4348C > T

1450

15

N/A

N/A

Pathogenic (0.90)

 + 

 + 

KRAS

c.38G > A

13

2

Deleterious (0.03)

Possibly damaging(0.517)

Pathogenic (0.98)

 + 

 + 

SMAD4

c.1478A > G

493

9

Deleterious (0)

Probably damaging(0.96)

Pathogenic (1.0)

 + 

 + 

GNAS

c.2531G > A

844

8

Deleterious (0)

Probably damaging(1)

Pathogenic (0.99)

 + 

Wild

3

APC

c.4012C > T

1338

15

N/A

N/A

Pathogenic (0.90)

 + 

 + 

NRAS

c.181C > A

61

3

Deleterious (0.01)

Possibly damaging(0.751)

Pathogenic (0.99)

Wild

 + 

TP53

c.797G > A

266

7

Deleterious (0)

Probably damaging(0.998)

Pathogenic (1.0)

 + 

 + 

c.761T > A

254

7

Deleterious (0)

Probably damaging(1)

Pathogenic (0.99)

Wild

 + 

4

KRAS

c.139G > C

47

2

Deleterious (0)

Probably damaging(0.986)

N/A

 + 

 + 

TP53

c.517G > A

173

5

Deleterious (0.03)

Probably damaging(0.954)

Pathogenic (0.99)

 + 

 + 

CDH1

c.1024A > T

342

8

Deleterious (0.02)

Benign (0.089)

N/A

Wild

5

BRAF

c.1799T > A

600

15

Deleterious (0)

Probably damaging(0.999)

Pathogenic (0.99)

 + 

 + 

TP53

c.723delC

241

7

Tolerated (0.56)

Benign (0.033)

Neutral (0.36)

 + 

 + 

6

APC

c.3944C > A

1315

15

Damaging due to Stop

N/A

Pathogenic (0.78)

 + 

 + 

TP53

c.54_55insAT

19

2

Novel

Deleterious (0)

Probably damaging(0.985)

Pathogenic (0.96)

 + 

 + 

7

–

–

–

–

−

−

8

–

–

–

–

−

−

9

APC

c.3949G > C

1317

15

Tolerated (0.19)

Benign (0.002)

Pathogenic (0.98)

 + 

 + 

c.4360delA

1454

15

Novel

N/A

N/A

N/A

 + 

 + 

KRAS

c.35G > C

12

2

Deleterious (0.02)

Possibly damaging(0.739)

Pathogenic (0.98)

 + 

 + 

TP53

c.743G > A

248

7

Deleterious (0)

Probably damaging(0.992)

Pathogenic (0.98)

 + 

 + 

10

APC

c.4059_4060insT

1376

15

Novel

N/A

N/A

N/A

 + 

 + 

TP53

c.845_846insCGGT

282

8

Novel

N/A

N/A

N/A

 + 

 + 

PIK3CA

c.1633G > A

545

9

Deleterious (0.01)

Possibly damaging(0.868)

Pathogenic (0.97)

 + 

 + 

FBXW7

c.1168dupT

390

7

Novel

N/A

N/A

N/A

 + 

 + 

11

KRAS

c.38G > A

13

2

Deleterious (0.03)

Possibly damaging(0.517)

Pathogenic (0.98)

 + 

 + 

TP53

c.821T > A

274

8

Deleterious (0)

Probably damaging(0.994)

Pathogenic (1.0)

 + 

 + 

12

APC

c.4468_4474delCATTTTG

1490–92

15

Novel

N/A

N/A

N/A

 + 

 + 

KRAS

c.35G > T

12

2

Deleterious (0)

Probably damaging(0.984)

Pathogenic (0.98)

 + 

 + 

TP53

c.536A > G

179

5

Deleterious (0.01)

Probably damaging(0.971)

Pathogenic (0.99)

 + 

 + 

13

APC

c.3916G > T

1306

15

N/A

N/A

Pathogenic (0.96)

 + 

 + 

TP53

c.524G > A

175

5

Tolerated (0.13)

Benign (0.209)

Pathogenic (0.99)

 + 

 + 

14

APC

c.4660_4661insA

1554

15

N/A

N/A

N/A

 + 

 + 

KRAS

c.35G > A

12

2

Deleterious (0)

Benign (0.387)

Pathogenic (0.98)

 + 

 + 

TP53

c.745A > G

249

7

Deleterious (0)

Probably damaging(0.994)

Neutral (0.41)

 + 

 + 

PIK3CA

c.1624G > A

542

9

Tolerated (0.11)

Probably damaging(0.922)

Pathogenic (0.97)

 + 

 + 

15

APC

c.3957delT

1319

15

N/A

N/A

N/A

 + 

 + 

KRAS

c.35G > A

12

2

Deleterious (0)

Benign (0.387)

Pathogenic (0.98)

 + 

 + 

TP53

c.422G > A

141

5

Deleterious (0)

Probably damaging(1)

Pathogenic (0.99)

 + 

 + 

16

NRAS

c.181C > A

61

3

Deleterious (0.01)

Possibly damaging(0.751)

Pathogenic (0.99)

 + 

 + 

TP53

c.761T > A

254

7

Deleterious (0)

Probably damaging(1)

Pathogenic (0.99)

 + 

 + 

17

APC

c.4455delT

1485

15

N/A

N/A

N/A

 + 

 + 

KRAS

c.35G > C

12

2

Deleterious (0.02)

Possibly damaging(0.739)

Pathogenic (0.98)

 + 

 + 

TP53

c.223_224dupCC

75

4

Novel

N/A

N/A

N/A

 + 

 + 

18

APC

c.4033G > T

1345

15

N/A

N/A

Pathogenic (0.85)

 + 

 + 

TP53

c.524G > A

175

5

Tolerated (0.13)

Benign (0.209)

Pathogenic (0.99)

 + 

 + 

19

APC

c.4479G > A

1306

15

N/A

N/A

Neutral (0.46)

 + 

 + 

TP53

c.406delC

136

5

N/A

N/A

N/A

 + 

 + 

20

TP53

c.638G > A

213

6

Deleterious (0)

Probably damaging(0.992)

Pathogenic (0.99)

 + 

 + 

c.844C > T

282

8

Deleterious (0)

Probably damaging(0.999)

Pathogenic (0.99)

 + 

 + 

21

APC

c.3980C > G

1327

15

N/A

N/A

Pathogenic (0.90)

 + 

 + 

TP53

c.437G > A

146

5

N/A

N/A

Neutral (0.17)

 + 

 + 

22

TP53

c.454_466delCCGCCCGGCACCC

152–156

5

N/A

N/A

N/A

 + 

 +