Site CDNA-Pos Description Allele1 AD-freq ED-freq Total-freq Allele2 AD-freq ED-freq Total-freq Protein-Pos Codon1 Codon2 Amino1 Amino2 000023 00000 ------------ C 1.00 0.98 0.99 T 0.00 0.02 0.01 0000 --- --- --- --- 000316 00000 ------------ C 1.00 0.93 0.97 G 0.00 0.07 0.03 0000 --- --- --- --- 000356 00000 ------------ T 0.91 1.00 0.95 A 0.09 0.00 0.05 0000 --- --- --- --- 000466 00000 ------------ C 1.00 0.93 0.97 A 0.00 0.07 0.03 0000 --- --- --- --- 000497 00000 ------------ C 1.00 0.95 0.98 A 0.00 0.05 0.02 0000 --- --- --- --- 000529 00000 ------------ G 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 000674 00000 ------------ C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 002420 00000 ------------ A 0.75 1.00 0.88 C 0.25 0.00 0.12 0000 --- --- --- --- 009839 00000 ------------ G 0.60 1.00 0.77 A 0.40 0.00 0.23 0000 --- --- --- --- 010104 00000 ------------ G 0.91 1.00 0.96 A 0.09 0.00 0.04 0000 --- --- --- --- 010213 00000 ------------ T 0.48 1.00 0.74 C 0.52 0.00 0.26 0000 --- --- --- --- 010991 00000 ------------ G 0.77 1.00 0.88 A 0.23 0.00 0.12 0000 --- --- --- --- 011251 00066 5' UTR C 0.76 1.00 0.88 T 0.24 0.00 0.12 0000 --- --- --- --- 011739 00000 ------------ C 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 012171 00000 ------------ C 0.90 1.00 0.95 T 0.10 0.00 0.05 0000 --- --- --- --- 012304 00229 5' UTR C 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 012381 00306 5' UTR C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 012399 00324 5' UTR C 0.79 1.00 0.89 G 0.21 0.00 0.11 0000 --- --- --- --- 012466 00391 5' UTR G 0.75 1.00 0.87 A 0.25 0.00 0.13 0000 --- --- --- --- 012606 00531 5' UTR C 0.82 1.00 0.93 G 0.18 0.00 0.07 0000 --- --- --- --- 012618 00000 ------------ T 0.82 1.00 0.93 A 0.18 0.00 0.07 0000 --- --- --- --- 012766 00000 ------------ G 0.85 1.00 0.94 A 0.15 0.00 0.06 0000 --- --- --- --- 012930 00000 ------------ - 0.82 1.00 0.91 + 0.18 0.00 0.09 0000 --- --- --- --- 013011 00000 ------------ T 1.00 0.93 0.97 G 0.00 0.07 0.03 0000 --- --- --- --- 013519 00000 ------------ T 0.78 1.00 0.89 C 0.23 0.00 0.11 0000 --- --- --- --- 013555 00000 ------------ G 0.78 1.00 0.89 A 0.23 0.00 0.11 0000 --- --- --- --- 013714 00000 ------------ G 0.78 1.00 0.89 A 0.23 0.00 0.11 0000 --- --- --- --- 013849 00000 ------------ G 0.80 1.00 0.90 A 0.20 0.00 0.10 0000 --- --- --- --- 014076 00000 ------------ A 0.75 1.00 0.87 G 0.25 0.00 0.13 0000 --- --- --- --- 014082 00000 ------------ C 0.46 1.00 0.72 T 0.54 0.00 0.28 0000 --- --- --- --- 014138 00000 ------------ C 0.92 1.00 0.96 T 0.08 0.00 0.04 0000 --- --- --- --- 014319 00000 ------------ A 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 014357 00000 ------------ G 0.75 0.98 0.86 A 0.25 0.02 0.14 0000 --- --- --- --- 014700 00000 ------------ C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 015102 00000 ------------ A 0.46 1.00 0.72 G 0.54 0.00 0.28 0000 --- --- --- --- 015539 00000 ------------ A 0.71 0.97 0.83 C 0.29 0.03 0.17 0000 --- --- --- --- 015957 00000 ------------ - 0.04 0.00 0.02 + 0.96 1.00 0.98 0000 --- --- --- --- 016032 00000 ------------ T 0.95 1.00 0.98 C 0.05 0.00 0.02 0000 --- --- --- --- 016166 00000 ------------ T 1.00 0.98 0.99 C 0.00 0.02 0.01 0000 --- --- --- --- 016167 00000 ------------ C 0.77 1.00 0.88 G 0.23 0.00 0.12 0000 --- --- --- --- 016209 00000 ------------ C 1.00 0.95 0.98 T 0.00 0.05 0.02 0000 --- --- --- --- 016301 00000 ------------ A 0.96 1.00 0.98 G 0.04 0.00 0.02 0000 --- --- --- --- 016451 00000 ------------ G 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 016514 00000 ------------ G 1.00 0.98 0.99 A 0.00 0.02 0.01 0000 --- --- --- --- 016629 00977 NON-SYN A 0.98 1.00 0.99 C 0.02 0.00 0.01 0140 AAC CAC ASN(N) HIS(H) 016700 00000 ------------ A 0.97 1.00 0.99 G 0.03 0.00 0.01 0000 --- --- --- --- 016777 00000 ------------ G 0.75 1.00 0.88 A 0.25 0.00 0.12 0000 --- --- --- --- 016858 00000 ------------ C 0.97 1.00 0.99 T 0.03 0.00 0.01 0000 --- --- --- --- 017136 00000 ------------ A 0.85 1.00 0.92 T 0.15 0.00 0.08 0000 --- --- --- --- 017277 00000 ------------ T 0.43 1.00 0.72 G 0.57 0.00 0.28 0000 --- --- --- --- 017579 00000 ------------ T 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 018737 00000 ------------ C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 018880 00000 ------------ C 0.95 1.00 0.97 G 0.05 0.00 0.03 0000 --- --- --- --- 018909 00000 ------------ C 0.95 1.00 0.98 T 0.05 0.00 0.02 0000 --- --- --- --- 019035 00000 ------------ C 1.00 0.95 0.98 T 0.00 0.05 0.02 0000 --- --- --- --- 019108 00000 ------------ G 0.98 1.00 0.99 C 0.02 0.00 0.01 0000 --- --- --- --- 019559 00000 ------------ C 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 021112 00000 ------------ C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 021213 00000 ------------ C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 021289 01240 SYNON C 1.00 0.96 0.98 T 0.00 0.04 0.02 0227 GCC GCT ALA(A) ALA(A) 021445 01396 SYNON C 0.98 1.00 0.99 T 0.02 0.00 0.01 0279 GCC GCT ALA(A) ALA(A) 022269 00000 ------------ C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 022476 00000 ------------ G 1.00 0.98 0.99 C 0.00 0.02 0.01 0000 --- --- --- --- 023185 00000 ------------ G 0.75 0.83 0.79 A 0.25 0.17 0.21 0000 --- --- --- --- 023554 00000 ------------ C 0.79 0.85 0.82 A 0.21 0.15 0.18 0000 --- --- --- --- 023618 00000 ------------ C 0.94 1.00 0.97 G 0.06 0.00 0.03 0000 --- --- --- --- 023639 00000 ------------ C 0.92 0.93 0.93 T 0.08 0.07 0.07 0000 --- --- --- --- 023727 01618 SYNON C 0.93 0.93 0.93 T 0.07 0.07 0.07 0353 TTC TTT PHE(F) PHE(F) 023837 00000 ------------ G 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 023849 00000 ------------ G 1.00 0.98 0.99 C 0.00 0.02 0.01 0000 --- --- --- --- 023873 00000 ------------ G 1.00 0.98 0.99 A 0.00 0.02 0.01 0000 --- --- --- --- 024314 00000 ------------ C 1.00 0.96 0.98 T 0.00 0.04 0.02 0000 --- --- --- --- 024320 00000 ------------ G 1.00 0.98 0.99 C 0.00 0.02 0.01 0000 --- --- --- --- 024322 00000 ------------ T 1.00 0.98 0.99 C 0.00 0.02 0.01 0000 --- --- --- --- 031176 00000 ------------ A 1.00 0.93 0.97 G 0.00 0.07 0.03 0000 --- --- --- --- 031295 00000 ------------ C 1.00 0.93 0.97 T 0.00 0.07 0.03 0000 --- --- --- --- 031836 00000 ------------ C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 031903 00000 ------------ C 1.00 0.93 0.97 A 0.00 0.07 0.03 0000 --- --- --- --- 032303 00000 ------------ C 0.65 0.72 0.68 T 0.35 0.28 0.32 0000 --- --- --- --- 032750 00000 ------------ G 1.00 0.75 0.88 A 0.00 0.25 0.12 0000 --- --- --- --- 033844 00000 ------------ C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 037251 00000 ------------ G 0.97 1.00 0.99 A 0.03 0.00 0.01 0000 --- --- --- --- 040404 00000 ------------ C 0.96 1.00 0.98 T 0.04 0.00 0.02 0000 --- --- --- --- 040470 00000 ------------ G 0.96 1.00 0.98 A 0.04 0.00 0.02 0000 --- --- --- --- 040537 00000 ------------ G 0.83 0.78 0.80 A 0.17 0.22 0.20 0000 --- --- --- --- 041303 00000 ------------ C 0.98 0.65 0.82 A 0.02 0.35 0.18 0000 --- --- --- --- 041357 00000 ------------ C 1.00 0.98 0.99 T 0.00 0.02 0.01 0000 --- --- --- --- 041420 00000 ------------ G 1.00 0.98 0.99 A 0.00 0.02 0.01 0000 --- --- --- --- 041692 00000 ------------ A 0.77 0.39 0.59 G 0.23 0.61 0.41 0000 --- --- --- --- 041796 00000 ------------ C 0.96 1.00 0.98 T 0.04 0.00 0.02 0000 --- --- --- --- 041862 00000 ------------ - 0.33 0.67 0.50 + 0.67 0.33 0.50 0000 --- --- --- --- 042535 02314 SYNON C 0.94 0.78 0.86 G 0.06 0.22 0.14 0585 CCC CCG PRO(P) PRO(P) 042746 00000 ------------ G 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 042834 00000 ------------ A 0.98 1.00 0.99 C 0.02 0.00 0.01 0000 --- --- --- --- 042855 00000 ------------ G 0.65 0.59 0.62 C 0.35 0.41 0.38 0000 --- --- --- --- 042871 00000 ------------ - 0.04 0.39 0.21 + 0.96 0.61 0.79 0000 --- --- --- --- 043124 00000 ------------ G 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 044024 00000 ------------ A 0.94 1.00 0.97 C 0.06 0.00 0.03 0000 --- --- --- --- 045354 02855 NON-SYN C 1.00 0.98 0.99 T 0.00 0.02 0.01 0766 CCG TCG PRO(P) SER(S) 045398 02899 SYNON C 0.96 1.00 0.98 T 0.04 0.00 0.02 0780 CAC CAT HIS(H) HIS(H) 045586 00000 ------------ C 1.00 0.98 0.99 T 0.00 0.02 0.01 0000 --- --- --- --- 045675 00000 ------------ A 0.96 0.61 0.79 G 0.04 0.39 0.21 0000 --- --- --- --- 046524 00000 ------------ - 1.00 0.98 0.99 + 0.00 0.02 0.01 0000 --- --- --- --- 048297 00000 ------------ A 0.96 0.61 0.78 G 0.04 0.39 0.22 0000 --- --- --- --- 048330 00000 ------------ T 1.00 0.98 0.99 C 0.00 0.02 0.01 0000 --- --- --- --- 048750 00000 ------------ G 0.98 1.00 0.99 C 0.02 0.00 0.01 0000 --- --- --- --- 049374 00000 ------------ G 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 050080 00000 ------------ G 0.97 1.00 0.99 T 0.03 0.00 0.01 0000 --- --- --- --- 051350 00000 ------------ A 0.94 0.78 0.86 G 0.06 0.22 0.14 0000 --- --- --- --- 051435 00000 ------------ C 0.94 1.00 0.97 T 0.06 0.00 0.03 0000 --- --- --- --- 051669 00000 ------------ C 1.00 0.98 0.99 T 0.00 0.02 0.01 0000 --- --- --- --- 053071 00000 ------------ C 0.59 0.64 0.61 T 0.41 0.36 0.39 0000 --- --- --- --- 054006 00000 ------------ A 1.00 0.98 0.99 G 0.00 0.02 0.01 0000 --- --- --- --- 054040 00000 ------------ G 1.00 0.96 0.98 A 0.00 0.04 0.02 0000 --- --- --- --- 054670 00000 ------------ A 1.00 0.57 0.80 G 0.00 0.43 0.20 0000 --- --- --- --- 054771 00000 ------------ G 1.00 0.95 0.98 A 0.00 0.05 0.02 0000 --- --- --- --- 055162 00000 ------------ A 1.00 0.95 0.98 G 0.00 0.05 0.02 0000 --- --- --- --- 055338 00000 ------------ C 0.96 1.00 0.98 T 0.04 0.00 0.02 0000 --- --- --- --- 055927 00000 ------------ - 0.08 0.00 0.04 + 0.92 1.00 0.96 0000 --- --- --- --- 056040 00000 ------------ G 1.00 0.98 0.99 T 0.00 0.02 0.01 0000 --- --- --- --- 056355 00000 ------------ C 1.00 0.97 0.99 A 0.00 0.03 0.01 0000 --- --- --- --- 056510 00000 ------------ A 0.40 0.76 0.57 T 0.60 0.24 0.43 0000 --- --- --- --- 056901 00000 ------------ G 1.00 0.61 0.81 T 0.00 0.39 0.19 0000 --- --- --- --- 058237 00000 ------------ C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 059634 04675 SYNON C 0.59 0.98 0.78 T 0.41 0.02 0.22 1372 AGC AGT SER(S) SER(S) 062175 00000 ------------ A 0.94 1.00 0.97 G 0.06 0.00 0.03 0000 --- --- --- --- 062274 00000 ------------ T 0.55 0.82 0.68 C 0.45 0.18 0.32 0000 --- --- --- --- 063723 00000 ------------ G 0.94 1.00 0.97 A 0.06 0.00 0.03 0000 --- --- --- --- 063788 00000 ------------ A 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 063843 00000 ------------ G 0.94 1.00 0.97 A 0.06 0.00 0.03 0000 --- --- --- --- 063945 00000 ------------ C 0.94 1.00 0.97 G 0.06 0.00 0.03 0000 --- --- --- --- 064097 00000 ------------ G 0.96 1.00 0.98 A 0.04 0.00 0.02 0000 --- --- --- --- 064397 05682 3' UTR C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 065145 06430 3' UTR G 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 065204 00000 ------------ G 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 065893 00000 ------------ G 0.71 1.00 0.84 T 0.29 0.00 0.16 0000 --- --- --- --- 065954 00000 ------------ C 0.94 1.00 0.97 T 0.06 0.00 0.03 0000 --- --- --- --- 066022 00000 ------------ T 1.00 0.71 0.87 C 0.00 0.29 0.13 0000 --- --- --- --- 066761 00000 ------------ C 0.41 0.64 0.52 T 0.59 0.36 0.48 0000 --- --- --- --- 066773 00000 ------------ C 0.75 1.00 0.88 T 0.25 0.00 0.12 0000 --- --- --- --- 066881 00000 ------------ C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 066913 00000 ------------ G 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- NOTE: AD-freq: African Descent frequency ED-freq: European Descent frequency NOTE: Diallelic insertion/deletion polymorphisms are represented as: + : allele insertion - : allele deletion The + (inserted) allele for each site is listed below: 012930: T 015957: CCTTGCT 041862: ACCCCCAGGGACCCCTGCCCTCCTCACCGCCTCTGTCCGTGAATGCAGGGGG 042871: TGCATCTCCCCAGCTACGTCAAGGAGAGGTTCCTCTTACCAGAAACTCGCTGGCCGTGGTCGGCCTCCCGCCAGGAGCCCTGCATCTCCCCAGCTACGTCAAGGAGAGGTTCCTCTCACCAGAACCTTGCTGGCCGTGGTCGGCCTCCCGCCAGGAGCCCTGCATCTCCCCAGCTACGTCAAGGAGAGGTTCCTCTCACCAGAACCTCGCTGGCCAGGGTCGGCCTCCCGCCAGGAGCCCTGCATCTCCC 046524: T 055927: TGG