Table 1.
Population | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 2 | 2 | 2 | 2 | 3 | 4 | 5 | 5 | 5 | 5 | ||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H | 4 | 4 | 5 | 6 | 9 | 9 | 2 | 2 | 3 | 3 | 3 | 3 | 4 | 1 | 6 | 6 | 6 | 6 | 9 | 9 | 9 | 3 | 7 | 7 | 7 | 3 | 4 | 4 | 3 | 4 | 4 | 4 | 4 | 4 | ||||||||||||||
a | 2 | 2 | 0 | 2 | 3 | 3 | 0 | 0 | 6 | 6 | 6 | 6 | 8 | 5 | 4 | 4 | 4 | 4 | 9 | 9 | 9 | 0 | 6 | 6 | 6 | 5 | 0 | 2 | 4 | 9 | 6 | 6 | 6 | 6 | ||||||||||||||
P | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 5 | 5 | 4 | 7 | 2 | 3 | 8 | 8 | 7 | 7 | 8 | 8 | 7 | 5 | 6 | 6 | 6 | 6 | 1 | 1 | 2 | 6 | 2 | 2 | 2 | 6 | 4 | 9 | 4 | 8 | 7 | 7 | 7 | 7 | |
l | - | - | - | - | - | - | - | - | - | - | - | - | - | + | + | - | - | + | - | + | + | + | + | - | - | + | 1 | + | + | + | + | + | + | - | + | - | - | - | + | 3 | 8 | + | 9 | + | + | + | + | |
o | 3 | 3 | 2 | 2 | 2 | 2 | 2 | 1 | 1 | 1 | 1 | 8 | 4 | 1 | 3 | 2 | 9 | 5 | 7 | 9 | 1 | 2 | 6 | 1 | 7 | 5 | * | 1 | 3 | 3 | 4 | 7 | 1 | 2 | 9 | 9 | 5 | 3 | 1 | 8 | U | 4 | 8 | 8 | 1 | |||
t | 1 | 1 | 9 | 6 | 4 | 3 | 3 | 9 | 8 | 7 | 0 | 4 | 0 | 6 | 5 | 8 | 6 | 2 | 7 | 0 | 3 | 3 | 2 | 1 | 0 | 4 | 8 | 7 | 9 | 1 | 0 | 3 | 3 | 2 | 8 | 2 | T | 6 | 1 | 8 | 4 | |||||||
y | 7 | 4 | 4 | 2 | 9 | 6 | 5 | 4 | 8 | 6 | 6 | 2 | 1 | 2 | 4 | 0 | 5 | 6 | 7 | 2 | 4 | 8 | 8 | 9 | 8 | 2 | 8 | 7 | 0 | 8 | 0 | 3 | R | 8 | 7 | 4 | 8 | |||||||||||
p | 6 | 7 | 5 | 5 | 5 | 0 | 8 | 2 | 1 | 4 | 2 | 2 | 6 | 1 | 1 | 3 | 5 | 7 | ||||||||||||||||||||||||||||||
e | 0 | 4 | 4 | 1 | 4 | 3 | 0 | 9 | 7 | 6 | 0 | |||||||||||||||||||||||||||||||||||||
Orangutan | - | G | - | A | - | A | 5bp | - | - | G | G | 9A | A | - | - | A | T | - | - | - | - | G | T | - | A | T | G | - | C | C | - | - | T | T | O | - | T | A | C | C | A | A | C | T | G | T | A | |
Gorilla | - | G | G | A | T | A | 5bp | C | A | G | G | 7A | A | A | A | A | T | - | 4A | - | - | G | T | AT | A | T | G | G | T | C | AC | 7T | T | T | O | G | T | G | C | C | A | A | C | T | - | - | C | |
Chimpanzee | G | G | G | A | T | A | 5bp | C | A | G | G | 9A | A | A | A | A | T | T | 4A+C+4A | C | G | G | T | AT | A | T | G | G | C | C | AC | TA+7T | T | T | O | G | T | A | T | C | A | A | C | T | G | T | C | |
Human, ancestral | G | G | G | A | T | A | 5bp | C | A | G | G | 9A | A | A | A | A | T | T | 9A | C | G | G | T | AT | A | T | G | G | C | C | AC | 8T | T | T | O | G | T | A | C | C | A | A | C | T | G | T | C | |
AF09 Khoisan | 1 | . | . | . | . | . | . | . | . | . | . | . | 8A | . | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . |
AF11 Surma | 2 | . | . | . | . | . | . | . | . | G | . | . | 8A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | T | . | . | . | . | . | . | . | . |
AF01, AF08, OC02† | 3 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . |
AF02, AF03, AF05‡ | 4 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | A | . | . | . |
AF07 Lisongo | 5 | . | T | . | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | A | . | . | . |
AF04 Mbuti Zaire Pygmy | 6 | . | T | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | T | . | . | . | . | . | . | . | T | . | . | . | . | . | . | . | . | . | . | T | . | . | . | A | . | . | . |
AF06 Lisongo | 7 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | A | . | . | . |
AF12 Bozo | 8 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . |
AF13 Tuareg | 9 | . | T | . | . | C | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . |
AS18 Sindhi | 10 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | 8A | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . |
AS21 Kazak | 11 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | C | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . |
AS06 Japanese | 12 | . | T | . | . | . | G | . | . | . | . | . | . | . | . | . | . | C | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | A | . | . | . |
AS07 Japanese | 13 | . | T | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | A | . | . |
AF10 and others§ | 14 | . | T | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . |
AS10 and others¶ | 15 | . | T | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | T | . | . | . | . | . | . | . | . | . | . | . | . | T | A | . | . | . |
AS19 Arab, Central Asia | 16 | . | T | . | . | . | . | . | . | . | . | A | . | . | G | . | . | C | . | . | . | . | . | . | . | . | . | . | . | . | T | . | . | . | . | . | . | . | . | . | . | . | . | T | A | . | . | . |
AS20 Arab, Central Asia | 17 | . | T | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | T | O | . | . | . | . | . | . | . | . | . | . | . | T | A | . | . | . |
AS22 Uzbek | 18 | . | T | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | T | . | . | . | . | . | . | A | . | . | . | . | . | T | A | . | . | . |
EU04 Italian | 19 | . | T | . | . | . | . | O | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | T | . | . | . | . | . | . | . | . | . | . | . | . | T | A | . | . | . |
AS02, AS11, AS17‖ | 20 | . | T | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | O | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . |
OC03, 04 Melanessian | 21 | . | T | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | C | . |
OC01 New Guinean | 22 | . | T | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | A | . | C | . |
EU05, 06 Basque | 23 | . | T | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | T |
AS01 Cambodian | 24 | A | T | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . |
AS08 Han Chinese | 25 | A | T | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | C | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . |
AS15 Brahul | 26 | . | T | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . |
EU01 Sardinian | 27 | . | T | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | 9T | . | A | . | . | . | . | . | . | . | . | . | A | . | . | . |
AS14 Baloochi | 28 | . | T | . | . | . | . | . | . | . | . | A | . | . | . | . | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | A | . | . | . |
EU02 Italian | 29 | . | T | . | . | . | . | . | G | . | . | A | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . |
EU03 German | 30 | . | T | . | . | . | . | . | . | . | . | A | . | . | . | . | . | . | . | . | . | . | . | C | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | A | . | . | . |
AS03 Atayal | 31 | . | T | A | . | . | . | . | . | . | . | A | . | G | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | G | . | A | . | . | . |
AF, Africa; AS, Asia; EU, Europe; AM, America; OC, Oceania; -, sequence not available.
Nonsynonymous substitution.
AF01, Biaka Pygmy; AF08, Khoisan; OC02, New Guinean.
AF02, 03, Biaka Pygmy; AF05, Mbuti Zaire Pygmy.
AF10, Berta; AS04, Ami; AS05, Japanese; AS09, Han Chinese; AS12, 13, Pathan; AS16, Sindhi; AS23, Druze; OC06, Australian Aborigine.
AS10, Brushaski; EU07, Basque; OC05, Australian Aborigine; AM01, Karitiana; AM02, Surui; AM03, Colombian Indian; AM04, Mayan Indian.
AS02, Cambodian; AS11, Brushaski; AS17, Sindhi.