Table 4 Human DMs identified as PCMs

Covered by

both the

Neanderthal

and the

Denisovan

sequence^a

CM993347

Chr1

67633930

+

Atopy

IL12RB2

A > G:GAA

NM_001559.2:

c.2159A > G

NP_001550.1:

p.H720R

Chimpanzee

CM042258

Chr1

94337039

-

Stargardt disease

ABCA4

T > G:GGT

NM_000350.2:

c.667A > C

NP_000341.2:

p.K223Q

Denisovan

and

chimpanzee

CM070090

Chr1

167765599

-

Thrombosis?

F5

C > T:CTC

NM_000130.4:

c.5290G > A

NP_000121.2:

p.V1764M

Denisovan

CM099258

Chr15

40468491

+

Muscular

dystrophy?

CAPN3

G > A:AAA

NM_000070.2:

c.706G > A

NP_000061.1:

p.A236T

Human

CM085365*

Chr15

43185730

-

Hypothyroidism

DUOX2

T > C:CCC

NM_014080.4:

c.2033A > G

NP_054799.4:

p.H678R

Human

CM984025*

Chr19

18047618

-

Mycobacterial

infection

IL12RB1

T > C:CCT

NM_005535.1:

c.641A > G

NP_005526.1:

p.Q214R

Denisovan

and

chimpanzee

CM044918

Chr19

41022117

-

Congenital

nephrotic

syndrome,

Finnish type

NPHS1

C > G:GGG

NM_004646.1:

c.2971G > C

NP_004637.1:

p.V991L

Human

CM064230

Chr19

43656115

+

Malignant

hyperthermia

RYR1

A > G:GAA

NM_000540.2:

c.4024A > G

NP_000531.2:

p.S1342G

Chimpanzee

CM961339*

Chr22

30836050

+

Glucose/galactose

malabsorption

SLC5A1

C > G:GGC

NM_000343.1:

c.1845C > G

NP_000334.1:

p.H615Q

Denisovan

and

chimpanzee

CM980573

Chr5

149341414

+

Achondrogenesis

1B

SLC26A2

A > T:TAT

NM_000112.3:

c.2065A > T

NP_000103.2:

p.T689S

Neanderthal

and

chimpanzee

CM043093

Chr6

25958824

-

Glycogen storage

disease 1c?

SLC17A3

C > T:TCC

NM_006632.3:

c.601G > A

NP_006623.2:

p.G201R

Chimpanzee

CM072814

Chr7

86894112

-

Intrahepatic

cholestasis,

familial

progressive?

ABCB4

T > C:CCC

NM_000443.3:

c.1954A > G

NP_000434.1:

p.R652G

Human

CM050323

Chr7

107129530

+

Pendred

syndrome?

SLC26A4

T > G:GTG

NM_000441.1:

c.1826T > G

NP_000432.1:

p.V609G

Neanderthal

and

chimpanzee

CM983990

Chr8

22032655

-

Alopecia

universalis?

HR

T > C:CCC

NM_005144.3:

c.3064A > G

NP_005135.2:

p.T1022A

Human

CM099178*

Chr8

118899878

-

Multiple

osteochondromas

EXT1

C > T:TCC

NM_000127.2:

c.1609G > A

NP_000118.2:

p.V537I

Chimpanzee

CM085353*

ChrX

149390017

+

Hypospadias

MAMLD1

T > C:CYC

NM_005491.2:

c.1514T > C

NP_005482.2:

p.V505A

Others

Covered

only by the

Denisovan

sequence^b

CM043273

Chr1

195670491

+

Retinitis

pigmentosa

CRB1

G > A:AG

NM_201253.1:

c.2875G > A

NP_957705.1:

p.G959S

Chimpanzee

CM067436

Chr11

7020956

+

Spermatogenic

failure

NLRP14

G > A:AG

NM_176822.3:

c.1123G > A

NP_789792.1:

p.A375T

Chimpanzee

CM043536

Chr11

47326617

-

Cardiomyopathy,

hypertrophic?

MYBPC3

T > C:CT

NM_000256.3:

c.706A > G

NP_000247.2:

p.S236G

Chimpanzee

CM082943

Chr11

118720796

-

Primary

angle-closure

glaucoma?

MFRP

C > T:TT

NM_031433.1:

c.770G > A

NP_113621.1:

p.R257H

Ancestral

CM091988

Chr12

32913201

-

Arrhythmogenic

right ventricular

cardiomyopathy

PKP2

A > G:GG

NM_004572.3:

c.1097T > C

NP_004563.2:

p.L366P

Ancestral

CM044579

Chr13

51413355

-

Wilson disease?

ATP7B

A > G:GG

NM_000053.2:

c.3419T > C

NP_000044.2:

p.V1140A

Ancestral

CM073339

Chr17

24310977

-

Febrile seizures?

SEZ6

T > C:CC

NM_178860.4:

c.1636A > G

NP_849191.3:

p.T546A

Ancestral

CM101950

Chr2

98363138

+

Progressive cone

dystrophy?

CNGA3

C > T:TC

NM_001298.2:

c.284C > T

NP_001289.1:

p.P95L

Chimpanzee

CM961335

Chr22

30817700

+

Glucose/galactose

malabsorption

SLC5A1

G > A:AA

NM_000343.1:

c.1231G > A

NP_000334.1:

p.A411T

Ancestral

CR080762

Chr1

15645754

+

Pancreatitis,

chronic?

CTRC

T > C:CC

rs75456156:T > C

NA

Ancestral

CR080761

Chr1

15645757

+

Pancreatitis,

chronic?

CTRC

A > G:GG

rs760937:A > G

NA

Ancestral

CR962526

Chr8

41774321

-

Spherocytosis

ANK1

A > G:GA

rs77173848:A > G

NA

Chimpanzee