Site CDNA-Pos Description Allele1 AD-freq ED-freq Total-freq Allele2 AD-freq ED-freq Total-freq Protein-Pos Codon1 Codon2 Amino1 Amino2 000106 00000 ------------ G 0.91 1.00 0.96 T 0.09 0.00 0.04 0000 --- --- --- --- 000757 00000 ------------ C 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 000861 00000 ------------ T 0.90 1.00 0.95 C 0.10 0.00 0.05 0000 --- --- --- --- 001021 00000 ------------ T 0.93 1.00 0.96 C 0.07 0.00 0.04 0000 --- --- --- --- 001024 00000 ------------ A 0.82 1.00 0.91 G 0.17 0.00 0.09 0000 --- --- --- --- 001272 00000 ------------ G 1.00 0.97 0.99 A 0.00 0.03 0.01 0000 --- --- --- --- 001547 00000 ------------ T 0.90 1.00 0.95 G 0.10 0.00 0.05 0000 --- --- --- --- 001848 00000 ------------ T 0.97 1.00 0.99 C 0.03 0.00 0.01 0000 --- --- --- --- 002162 00000 ------------ A 0.93 1.00 0.97 G 0.07 0.00 0.03 0000 --- --- --- --- 002273 00000 ------------ T 0.96 1.00 0.98 G 0.04 0.00 0.02 0000 --- --- --- --- 002306 00000 ------------ A 0.93 1.00 0.97 G 0.07 0.00 0.03 0000 --- --- --- --- 002387 00000 ------------ + 0.30 0.07 0.19 - 0.70 0.93 0.81 0000 --- --- --- --- 002521 00000 ------------ G 0.89 0.61 0.76 A 0.11 0.39 0.24 0000 --- --- --- --- 002638 00000 ------------ T 0.88 0.93 0.90 G 0.12 0.07 0.10 0000 --- --- --- --- 002652 00000 ------------ A 0.98 1.00 0.99 C 0.02 0.00 0.01 0000 --- --- --- --- 002890 00000 ------------ G 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 002996 00000 ------------ C 0.61 0.53 0.57 A 0.39 0.47 0.43 0000 --- --- --- --- 003094 00000 ------------ A 0.74 0.45 0.60 G 0.26 0.55 0.40 0000 --- --- --- --- 003157 00000 ------------ G 0.64 0.55 0.59 A 0.36 0.45 0.41 0000 --- --- --- --- 003304 00000 ------------ C 1.00 0.95 0.98 G 0.00 0.05 0.02 0000 --- --- --- --- 003342 00000 ------------ + 0.20 0.00 0.10 - 0.80 1.00 0.90 0000 --- --- --- --- 003412 00000 ------------ C 0.93 1.00 0.97 T 0.07 0.00 0.03 0000 --- --- --- --- 003691 00000 ------------ G 0.98 0.96 0.97 A 0.02 0.04 0.03 0000 --- --- --- --- 003714 00000 ------------ + 0.96 1.00 0.98 - 0.04 0.00 0.02 0000 --- --- --- --- 003991 00000 ------------ A 0.89 0.55 0.72 C 0.11 0.45 0.28 0000 --- --- --- --- 004134 00000 ------------ T 0.67 0.95 0.81 G 0.33 0.05 0.19 0000 --- --- --- --- 004180 00000 ------------ G 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 004249 00000 ------------ C 0.83 0.93 0.88 T 0.17 0.07 0.12 0000 --- --- --- --- 004259 00000 ------------ T 0.98 1.00 0.99 C 0.02 0.00 0.01 0000 --- --- --- --- 004366 00000 ------------ A 0.85 0.54 0.70 T 0.15 0.46 0.30 0000 --- --- --- --- 004423 00000 ------------ T 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 004648 00000 ------------ C 0.72 0.54 0.63 A 0.28 0.46 0.37 0000 --- --- --- --- 004752 00000 ------------ C 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 004879 00000 ------------ G 0.98 1.00 0.99 C 0.02 0.00 0.01 0000 --- --- --- --- 004949 00000 ------------ A 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 004990 00000 ------------ C 0.71 0.93 0.82 T 0.29 0.07 0.18 0000 --- --- --- --- 004993 00000 ------------ A 0.60 0.52 0.56 G 0.40 0.48 0.44 0000 --- --- --- --- 005241 00000 ------------ G 0.98 1.00 0.99 C 0.02 0.00 0.01 0000 --- --- --- --- 006007 00000 ------------ C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 007167 00000 ------------ G 0.67 0.48 0.57 A 0.33 0.52 0.43 0000 --- --- --- --- 007175 00000 ------------ A 0.94 1.00 0.97 G 0.06 0.00 0.03 0000 --- --- --- --- 007265 00000 ------------ G 0.96 1.00 0.98 T 0.04 0.00 0.02 0000 --- --- --- --- 007306 00000 ------------ G 1.00 0.96 0.98 A 0.00 0.04 0.02 0000 --- --- --- --- 007430 00000 ------------ C 0.94 1.00 0.97 A 0.06 0.00 0.03 0000 --- --- --- --- 007486 00000 ------------ C 0.96 1.00 0.98 A 0.04 0.00 0.02 0000 --- --- --- --- 007662 00000 ------------ G 0.98 1.00 0.99 C 0.02 0.00 0.01 0000 --- --- --- --- 007663 00000 ------------ C 0.90 1.00 0.95 T 0.10 0.00 0.05 0000 --- --- --- --- 007664 00000 ------------ G 1.00 0.98 0.99 A 0.00 0.02 0.01 0000 --- --- --- --- 007854 00000 ------------ G 0.54 0.52 0.53 A 0.46 0.48 0.47 0000 --- --- --- --- 007947 00000 ------------ G 0.90 1.00 0.95 A 0.10 0.00 0.05 0000 --- --- --- --- 007988 00000 ------------ A 0.71 0.93 0.82 C 0.29 0.07 0.18 0000 --- --- --- --- 008152 00000 ------------ G 0.96 1.00 0.98 A 0.04 0.00 0.02 0000 --- --- --- --- 008426 00000 ------------ G 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 008583 00000 ------------ C 0.89 1.00 0.94 T 0.11 0.00 0.06 0000 --- --- --- --- 008595 00000 ------------ T 0.79 1.00 0.90 A 0.21 0.00 0.10 0000 --- --- --- --- 008796 00000 ------------ A 0.93 1.00 0.97 G 0.07 0.00 0.03 0000 --- --- --- --- 009152 00000 ------------ + 0.86 1.00 0.93 - 0.14 0.00 0.07 0000 --- --- --- --- 009473 00000 ------------ T 0.77 0.53 0.66 C 0.23 0.47 0.34 0000 --- --- --- --- 009474 00000 ------------ G 0.94 1.00 0.97 A 0.06 0.00 0.03 0000 --- --- --- --- 009505 00000 ------------ T 0.94 1.00 0.97 A 0.06 0.00 0.03 0000 --- --- --- --- 009534 00000 ------------ C 0.62 0.48 0.56 T 0.38 0.52 0.44 0000 --- --- --- --- 009600 00000 ------------ A 0.39 0.93 0.65 G 0.61 0.07 0.35 0000 --- --- --- --- 009616 00000 ------------ T 1.00 0.95 0.98 C 0.00 0.05 0.02 0000 --- --- --- --- 009663 00000 ------------ G 1.00 0.92 0.96 A 0.00 0.08 0.04 0000 --- --- --- --- 010381 00000 ------------ T 0.71 0.93 0.82 C 0.29 0.07 0.18 0000 --- --- --- --- 010420 00286 FRAME SHIFT + 0.98 1.00 0.99 - 0.02 0.00 0.01 0052 AAA --A --- --- 010425 EXON14 -1 SPLICE + 0.02 0.00 0.01 - 0.98 1.00 0.99 0000 --- --- --- --- 010613 00000 ------------ A 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 010876 00000 ------------ A 0.96 0.95 0.96 G 0.04 0.05 0.04 0000 --- --- --- --- 011137 00000 ------------ + 0.91 1.00 0.95 - 0.09 0.00 0.05 0000 --- --- --- --- 011155 00000 ------------ C 0.94 1.00 0.97 T 0.06 0.00 0.03 0000 --- --- --- --- 011472 00000 ------------ C 0.68 0.93 0.80 A 0.32 0.07 0.20 0000 --- --- --- --- 011554 00000 ------------ T 0.72 0.93 0.83 C 0.28 0.07 0.17 0000 --- --- --- --- 011684 00000 ------------ T 0.73 0.93 0.83 A 0.27 0.07 0.17 0000 --- --- --- --- 011741 00000 ------------ C 0.52 0.48 0.50 T 0.48 0.52 0.50 0000 --- --- --- --- 011890 00000 ------------ A 0.94 0.57 0.76 G 0.06 0.43 0.24 0000 --- --- --- --- 012124 00000 ------------ T 0.96 1.00 0.98 C 0.04 0.00 0.02 0000 --- --- --- --- 012145 00000 ------------ G 0.74 0.80 0.77 A 0.26 0.20 0.23 0000 --- --- --- --- 012269 00000 ------------ + 0.92 0.53 0.77 - 0.08 0.47 0.23 0000 --- --- --- --- 012403 00000 ------------ C 0.69 0.93 0.81 G 0.31 0.07 0.19 0000 --- --- --- --- 012775 00000 ------------ A 0.98 0.98 0.98 G 0.02 0.02 0.02 0000 --- --- --- --- 012919 00000 ------------ A 0.57 0.55 0.56 G 0.43 0.45 0.44 0000 --- --- --- --- 012998 00000 ------------ C 0.93 1.00 0.97 A 0.07 0.00 0.03 0000 --- --- --- --- 013094 00000 ------------ T 0.96 0.95 0.96 A 0.04 0.05 0.04 0000 --- --- --- --- 013346 00000 ------------ T 0.96 1.00 0.98 C 0.04 0.00 0.02 0000 --- --- --- --- 013388 00000 ------------ A 0.96 0.95 0.95 G 0.04 0.05 0.05 0000 --- --- --- --- 013528 00000 ------------ + 0.92 0.50 0.74 - 0.08 0.50 0.26 0000 --- --- --- --- 013577 00000 ------------ T 0.33 0.95 0.60 A 0.67 0.05 0.40 0000 --- --- --- --- 013758 00000 ------------ T 0.94 1.00 0.97 C 0.06 0.00 0.03 0000 --- --- --- --- 013823 00000 ------------ A 1.00 0.98 0.99 G 0.00 0.02 0.01 0000 --- --- --- --- 013936 00000 ------------ C 0.60 0.43 0.51 T 0.40 0.57 0.49 0000 --- --- --- --- 013973 00000 ------------ G 0.93 0.50 0.71 A 0.07 0.50 0.29 0000 --- --- --- --- 014003 00000 ------------ T 1.00 0.98 0.99 C 0.00 0.02 0.01 0000 --- --- --- --- 014076 00000 ------------ G 0.95 1.00 0.98 A 0.05 0.00 0.02 0000 --- --- --- --- 014081 00000 ------------ C 0.93 1.00 0.96 A 0.07 0.00 0.04 0000 --- --- --- --- 014190 00000 ------------ T 0.98 1.00 0.99 C 0.02 0.00 0.01 0000 --- --- --- --- 014299 00000 ------------ A 0.73 0.93 0.83 G 0.27 0.07 0.17 0000 --- --- --- --- 014455 00000 ------------ A 0.92 0.52 0.73 T 0.08 0.48 0.27 0000 --- --- --- --- 014482 00000 ------------ T 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 014882 00000 ------------ T 0.93 1.00 0.97 C 0.07 0.00 0.03 0000 --- --- --- --- 014903 00000 ------------ G 0.76 1.00 0.88 A 0.24 0.00 0.12 0000 --- --- --- --- 015062 EXON14 +2 SPLICE T 0.98 1.00 0.99 C 0.02 0.00 0.01 0000 --- --- --- --- 015521 00000 ------------ C 1.00 0.98 0.99 T 0.00 0.02 0.01 0000 --- --- --- --- 015833 00000 ------------ C 1.00 0.96 0.98 T 0.00 0.04 0.02 0000 --- --- --- --- 015932 00000 ------------ G 0.71 0.93 0.82 A 0.29 0.07 0.18 0000 --- --- --- --- 015975 00000 ------------ A 0.94 1.00 0.97 G 0.06 0.00 0.03 0000 --- --- --- --- 016040 00000 ------------ G 0.94 1.00 0.97 T 0.06 0.00 0.03 0000 --- --- --- --- 016163 00000 ------------ G 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 016385 00000 ------------ C 1.00 0.98 0.99 T 0.00 0.02 0.01 0000 --- --- --- --- 016565 00000 ------------ T 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 016568 00000 ------------ A 0.93 1.00 0.97 G 0.07 0.00 0.03 0000 --- --- --- --- 016809 00000 ------------ C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 016838 EXON14 -2 SPLICE A 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 016983 00705 SYNON G 1.00 0.95 0.98 A 0.00 0.05 0.02 0191 CCG CCA PRO(P) PRO(P) 017093 00000 ------------ T 0.95 1.00 0.97 A 0.05 0.00 0.03 0000 --- --- --- --- 017282 00000 ------------ T 0.97 1.00 0.99 A 0.03 0.00 0.01 0000 --- --- --- --- 017418 00000 ------------ + 0.89 1.00 0.95 - 0.11 0.00 0.05 0000 --- --- --- --- 017461 00000 ------------ + 0.04 0.00 0.03 - 0.96 1.00 0.97 0000 --- --- --- --- 017743 00000 ------------ A 0.87 1.00 0.94 G 0.13 0.00 0.06 0000 --- --- --- --- 017800 00000 ------------ + 0.13 0.00 0.06 - 0.87 1.00 0.94 0000 --- --- --- --- 018358 00000 ------------ + 0.04 0.00 0.02 - 0.96 1.00 0.98 0000 --- --- --- --- 018457 00000 ------------ A 1.00 0.98 0.99 G 0.00 0.02 0.01 0000 --- --- --- --- 018463 00000 ------------ C 0.98 0.95 0.97 T 0.02 0.05 0.03 0000 --- --- --- --- 018662 00000 ------------ T 0.77 1.00 0.89 C 0.23 0.00 0.11 0000 --- --- --- --- 018785 00000 ------------ G 0.96 1.00 0.98 A 0.04 0.00 0.02 0000 --- --- --- --- 018911 00000 ------------ T 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 018966 00000 ------------ G 0.94 1.00 0.97 A 0.06 0.00 0.03 0000 --- --- --- --- 019151 00000 ------------ A 0.70 1.00 0.82 G 0.30 0.00 0.18 0000 --- --- --- --- 019228 00000 ------------ A 0.96 0.94 0.95 C 0.04 0.06 0.05 0000 --- --- --- --- 019277 00000 ------------ + 0.02 0.36 0.18 - 0.98 0.64 0.82 0000 --- --- --- --- 019386 00000 ------------ T 0.88 1.00 0.93 C 0.12 0.00 0.07 0000 --- --- --- --- 019877 00000 ------------ T 0.94 1.00 0.97 C 0.06 0.00 0.03 0000 --- --- --- --- 020028 00000 ------------ + 0.91 1.00 0.95 - 0.09 0.00 0.05 0000 --- --- --- --- 020277 00000 ------------ T 1.00 0.98 0.99 C 0.00 0.02 0.01 0000 --- --- --- --- 020440 00000 ------------ A 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 020630 00000 ------------ C 1.00 0.96 0.98 T 0.00 0.04 0.02 0000 --- --- --- --- 020644 00000 ------------ T 0.92 1.00 0.96 G 0.08 0.00 0.04 0000 --- --- --- --- 021005 00000 ------------ T 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 021110 00000 ------------ C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 021111 00000 ------------ G 0.95 1.00 0.98 A 0.05 0.00 0.02 0000 --- --- --- --- 021703 00000 ------------ C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 021731 00000 ------------ + 0.06 0.02 0.04 - 0.94 0.98 0.96 0000 --- --- --- --- 021891 00000 ------------ G 0.95 0.98 0.97 A 0.05 0.02 0.03 0000 --- --- --- --- 021927 00000 ------------ C 0.96 1.00 0.98 T 0.04 0.00 0.02 0000 --- --- --- --- 022296 00000 ------------ C 0.79 0.55 0.68 G 0.21 0.45 0.32 0000 --- --- --- --- 022338 00000 ------------ A 0.96 1.00 0.98 G 0.04 0.00 0.02 0000 --- --- --- --- 022351 00000 ------------ A 0.98 1.00 0.99 C 0.02 0.00 0.01 0000 --- --- --- --- 022434 00000 ------------ G 1.00 0.98 0.99 A 0.00 0.02 0.01 0000 --- --- --- --- 022749 00000 ------------ C 0.78 0.54 0.66 T 0.22 0.46 0.34 0000 --- --- --- --- 022830 00000 ------------ C 1.00 0.98 0.99 T 0.00 0.02 0.01 0000 --- --- --- --- 023463 00000 ------------ T 0.81 0.50 0.65 C 0.19 0.50 0.35 0000 --- --- --- --- 023533 00000 ------------ G 0.88 0.50 0.70 A 0.12 0.50 0.30 0000 --- --- --- --- 023689 00000 ------------ G 0.79 0.54 0.67 A 0.21 0.46 0.33 0000 --- --- --- --- 024165 00000 ------------ C 0.95 1.00 0.98 T 0.05 0.00 0.02 0000 --- --- --- --- 024166 00000 ------------ G 0.95 1.00 0.98 A 0.05 0.00 0.02 0000 --- --- --- --- 024186 00000 ------------ C 0.97 1.00 0.99 G 0.03 0.00 0.01 0000 --- --- --- --- 024426 00000 ------------ T 0.79 0.52 0.66 A 0.21 0.48 0.34 0000 --- --- --- --- 024427 00000 ------------ A 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 024685 00000 ------------ G 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 025025 01104 TRUNCATION T 0.92 1.00 0.96 G 0.08 0.00 0.04 0324 TAT TAG TYR(Y) *** 025054 01133 FRAME SHIFT + 1.00 0.98 0.99 - 0.00 0.02 0.01 0334 GAA G-- --- --- 025276 00000 ------------ T 0.98 1.00 0.99 C 0.02 0.00 0.01 0000 --- --- --- --- 025550 00000 ------------ G 0.95 1.00 0.98 A 0.05 0.00 0.02 0000 --- --- --- --- 025580 00000 ------------ T 0.89 0.50 0.69 C 0.11 0.50 0.31 0000 --- --- --- --- 025695 00000 ------------ T 0.98 1.00 0.99 C 0.02 0.00 0.01 0000 --- --- --- --- 025794 00000 ------------ C 1.00 0.98 0.99 G 0.00 0.02 0.01 0000 --- --- --- --- 025945 00000 ------------ C 0.96 1.00 0.98 A 0.04 0.00 0.02 0000 --- --- --- --- 026076 00000 ------------ G 0.96 0.91 0.94 A 0.04 0.09 0.06 0000 --- --- --- --- 026089 00000 ------------ G 0.94 1.00 0.97 T 0.06 0.00 0.03 0000 --- --- --- --- 026160 00000 ------------ G 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 026305 00000 ------------ G 0.96 1.00 0.98 A 0.04 0.00 0.02 0000 --- --- --- --- 026346 00000 ------------ C 0.98 1.00 0.99 T 0.02 0.00 0.01 0000 --- --- --- --- 026512 00000 ------------ C 0.75 0.60 0.68 A 0.25 0.40 0.32 0000 --- --- --- --- 026776 00000 ------------ T 0.96 1.00 0.98 C 0.04 0.00 0.02 0000 --- --- --- --- 026911 00000 ------------ + 0.02 0.00 0.01 - 0.98 1.00 0.99 0000 --- --- --- --- 026927 00000 ------------ A 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 027003 00000 ------------ C 0.83 0.54 0.69 T 0.17 0.46 0.31 0000 --- --- --- --- 027041 00000 ------------ A 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 027418 00000 ------------ T 0.94 1.00 0.97 C 0.06 0.00 0.03 0000 --- --- --- --- 028302 01774 3' UTR A 0.98 1.00 0.99 G 0.02 0.00 0.01 0000 --- --- --- --- 028314 01786 3' UTR + 1.00 0.89 0.94 - 0.00 0.11 0.06 0000 --- --- --- --- 028375 00000 ------------ T 0.96 0.91 0.94 G 0.04 0.09 0.06 0000 --- --- --- --- 028423 00000 ------------ G 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 028685 00000 ------------ A 0.87 0.52 0.70 G 0.13 0.48 0.30 0000 --- --- --- --- 028947 00000 ------------ G 0.98 1.00 0.99 A 0.02 0.00 0.01 0000 --- --- --- --- 029225 00000 ------------ A 0.88 0.52 0.70 G 0.12 0.48 0.30 0000 --- --- --- --- 029894 00000 ------------ + 0.18 0.45 0.31 - 0.82 0.55 0.69 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: 002387: T 003342: A 003714: AA 009152: C 010420: AA 010425: G 011137: G 012269: GTT 013528: TGT 017418: TTACAATTTTAAT 017461: T 017800: TACTCAT 018358: TAAG 019277: TCAAACTGAGTCTATCTAATGATTGCTTT 020028: A 021731: GCCT 025054: AAG 026911: ATGGTTTTATGGTTTTATTTGAGCATTTGATAGCATC 028314: GCACAAATAAAGCACT 029894: GGGTTGAGA