Skip to main content

Table 3 Nucleotide variation in assemblies to human

From: Expanding whole exome resequencing into non-human primates

 

Chimpanzee

Rhesus macaque

 

Sample

Genome

Sample

Genome

 

Hom

Het

Hemi

Hom

Het*

Hemi

Hom

Het

Hemi

Hom

Het*

Hemi

Deletions

            

   Frameshift

147

185

11

550

296

72

337

360

18

504

200

32

   Amino acid loss

191

210

12

183

74

10

643

295

35

697

290

37

Insertions

            

   Frameshift

104

163

11

242

260

29

190

321

15

281

300

17

   Amino acid gain

109

269

13

69

237

3

319

600

27

246

755

34

MNP

            

   Synonymous

289

125

10

78

13

4

1,310

318

81

963

52

41

   Non-synonymous

1,986

1,024

56

1,971

293

79

13,022

2,822

502

17,762

982

682

   Stop codon gain

7

27

1

20

16

4

36

106

1

55

28

0

   Stop codon loss

2

2

0

0

2

0

8

4

0

6

2

0

SNP

            

   Synonymous

76,204

14,506

2,355

75,930

826

1,864

318,662

23,085

11,117

346,779

2,688

11,653

   Non-synonymous

49,699

16,017

2,220

49,093

1,105

1,696

139,476

22,633

5,943

160,418

2,574

6,479

   Stop codon gain

204

379

19

228

17

15

400

732

20

445

26

21

   Stop codon loss

85

34

4

27

1

3

137

50

5

75

2

3

Genes

            

   Deletion frameshift

143

 

10

489 (678)a

 

55

328

 

17

438 (579)a

 

27

   Insertion frameshift

101

 

10

230 (439)a

 

28

180

 

14

266 (519)a

 

16

   Either

241

 

20

679 (1,016)a

 

76

489

 

29

665 (1,013)a

 

39

   Stop codon gain

200

 

16

237 (259)a

 

14

406

 

21

443 (494)a

 

19

   Stop codon loss

87

 

4

28 (32)a

 

0

143

 

5

80 (84)a

 

3

   Either

280

 

19

263 (289)a

 

14

534

 

26

513 (567)a

 

22

   Any of above

499

 

39

895 (1,316)a

 

87

945

 

51

1082 (1,425)a

 

56

  1. Comparison of nucleotide level variation in sample reads and genomic cross-species alignments to human. aValues in parentheses are Hom + Het*. Hemi, hemizygous; Het, heterozygous; Hom, homozygous; MNP, multi-nucleotide polymorphism; SNP, single-nucleotide polymorphism.