Hugo AllelePos a.a.Pos Residue Mutant ADfreq EDfreq PPHpredict SIFTpredict abca3 016629 140 N H 0.02 0.00 possibly damaging TOLERATED ABCG2 045561 296 D H 0.00 0.02 possibly damaging INTOLERANT abo 016280 35 G R 0.07 0.00 possibly damaging TOLERATED abo 016283 36 V F 0.26 0.25 possibly damaging TOLERATED abo 019548 74 P S 0.12 0.14 possibly damaging INTOLERANT abo 021404 156 P L 0.23 0.15 possibly damaging TOLERATED abo 021463 176 R G 0.23 0.00 probably damaging INTOLERANT abo 021532 199 R C 0.02 0.07 probably damaging TOLERATED abo 021583 216 F I 0.17 0.24 probably damaging INTOLERANT ache 004459 135 P A 0.00 0.02 probably damaging INTOLERANT ache 007252 592 P R 0.13 0.39 probably damaging INTOLERANT ADAMTS13 002066 7 R W 0.04 0.09 possibly damaging NOT ADAMTS13 016496 457 P L 0.00 0.02 probably damaging TOLERATED ADAMTS13 020016 618 P A 0.00 0.02 possibly damaging TOLERATED ADAMTS13 029473 982 G R 0.00 0.02 possibly damaging TOLERATED ADRA2A 005596 251 N K 0.13 0.00 possibly damaging TOLERATED adrb1 008883 389 R L 0.07 0.00 probably damaging INTOLERANT adrb3 004134 64 W R 0.11 0.13 probably damaging TOLERATED adrb3 005001 353 R C 0.07 0.00 probably damaging INTOLERANT APOBEC3G 006325 186 H R 0.35 0.07 probably damaging TOLERATED apoh 018593 335 W S 0.00 0.02 probably damaging TOLERATED AVPR1B 002692 65 K N 0.00 0.10 possibly damaging INTOLERANT AVPR1B 003296 267 S G 0.02 0.00 possibly damaging TOLERATED AVPR1B 009027 364 R H 0.08 0.20 possibly damaging TOLERATED bdkrb2 006013 354 G E 0.04 0.00 possibly damaging INTOLERANT bf 001646 9 L H 0.00 0.07 possibly damaging INTOLERANT c2 019517 734 R C 0.07 0.00 possibly damaging INTOLERANT c3 009396 314 P L 0.00 0.24 probably damaging INTOLERANT c5 055897 933 G V 0.02 0.00 probably damaging INTOLERANT CASR 103234 990 R G 0.02 0.02 possibly damaging INTOLERANT CBR3 002239 4 C Y 0.24 0.46 probably damaging TOLERATED CBR3 013417 235 M L 0.02 0.00 possibly damaging INTOLERANT ccr2 008052 355 G E 0.02 0.00 possibly damaging NOT CEACAM1 002595 35 Q K 0.44 0.02 probably damaging TOLERATED CEACAM1 010891 376 Q R 0.04 0.00 possibly damaging TOLERATED ceacam8 002074 17 G V 0.36 0.00 probably damaging INTOLERANT CFH 040034 402 Y H 0.29 0.26 possibly damaging TOLERATED CFH 065652 551 I T 0.07 0.00 probably damaging INTOLERANT CFH 087481 890 S I 0.21 0.00 probably damaging TOLERATED CFH 093400 1050 N Y 0.02 0.02 probably damaging INTOLERANT ckm 006956 83 E G 0.00 0.02 possibly damaging TOLERATED ckm 016423 243 G A 0.02 0.00 possibly damaging INTOLERANT COCH 006854 135 G R 0.02 0.00 probably damaging INTOLERANT csf3r 011633 231 M T 0.06 0.00 probably damaging TOLERATED csf3r 015097 510 D H 0.25 0.00 possibly damaging TOLERATED csf3r 016187 562 Y H 0.02 0.00 possibly damaging INTOLERANT csf3r 016362 583 R C 0.02 0.00 possibly damaging TOLERATED CYB5R4 066875 267 P A 0.07 0.00 possibly damaging INTOLERANT cyp4f2 002617 7 S Y 0.02 0.00 possibly damaging INTOLERANT cyp4f2 009812 185 G V 0.02 0.04 possibly damaging INTOLERANT cyp4f2 020597 433 V M 0.09 0.17 possibly damaging INTOLERANT cyp4f3 011185 271 I T 0.02 0.00 probably damaging INTOLERANT ENG 030926 191 G D 0.00 0.02 possibly damaging TOLERATED ephb6 012535 267 P R 0.03 0.00 probably damaging INTOLERANT ermap 018909 259 C R 0.04 0.00 probably damaging INTOLERANT ermap 018922 263 G E 0.00 0.02 possibly damaging TOLERATED f11 016918 339 C F 0.07 0.00 probably damaging INTOLERANT f12 008831 605 Y H 0.02 0.00 possibly damaging INTOLERANT f13a1 072060 205 Y F 0.00 0.04 probably damaging INTOLERANT F13B 012075 350 H R 0.02 0.00 possibly damaging TOLERATED f2r 019302 412 S Y 0.02 0.00 possibly damaging INTOLERANT f2rl3 002366 296 F V 0.10 0.00 possibly damaging INTOLERANT f2rl3 002409 310 P L 0.00 0.02 probably damaging TOLERATED f5 002055 15 G S 0.05 0.00 possibly damaging INTOLERANT f5 045740 809 P S 0.19 0.00 possibly damaging TOLERATED f5 045765 817 N T 0.02 0.07 possibly damaging INTOLERANT f5 045909 865 H R 0.27 0.21 probably damaging TOLERATED f5 046753 1146 H Q 0.06 0.00 possibly damaging INTOLERANT f5 047525 1404 P S 0.08 0.02 probably damaging INTOLERANT f5 072877 2148 M T 0.00 0.05 probably damaging INTOLERANT f7 015386 413 R Q 0.12 0.04 possibly damaging TOLERATED f9 032922 461 T P 0.02 0.00 possibly damaging INTOLERANT fgb 007337 265 P L 0.00 0.02 probably damaging TOLERATED fgg 004433 191 G R 0.00 0.02 probably damaging INTOLERANT fgl1 023023 111 Y H 0.04 0.00 probably damaging INTOLERANT fgl1 023053 121 T S 0.02 0.00 probably damaging INTOLERANT fgl1 023356 140 Y F 0.00 0.02 probably damaging INTOLERANT fuk 021983 701 P L 0.00 0.02 probably damaging INTOLERANT fuk 025673 901 R W 0.00 0.02 possibly damaging TOLERATED FUT2 025229 138 R C 0.00 0.02 possibly damaging INTOLERANT FUT2 025589 258 S G 0.46 0.30 possibly damaging TOLERATED fut3 008504 20 L R 0.27 0.00 possibly damaging TOLERATED fut3 008647 68 W R 0.06 0.22 probably damaging INTOLERANT fut3 008923 160 R C 0.02 0.00 probably damaging INTOLERANT fut3 008929 162 D N 0.20 0.00 possibly damaging INTOLERANT fut3 008953 170 G S 0.24 0.00 probably damaging INTOLERANT fut3 009112 223 G R 0.20 0.00 probably damaging INTOLERANT fut3 009253 270 V M 0.08 0.00 possibly damaging INTOLERANT GAS6 043916 580 S L 0.04 0.00 possibly damaging INTOLERANT GBGT1 011567 163 R W 0.02 0.00 probably damaging INTOLERANT GBGT1 011793 238 Q P 0.04 0.00 possibly damaging TOLERATED GBGT1 011951 291 I F 0.06 0.00 possibly damaging INTOLERANT gpr109b 002374 198 L F 0.52 0.43 possibly damaging TOLERATED gpr109b 002820 346 M I 0.00 0.09 possibly damaging TOLERATED GPR154 122209 107 I N 0.40 0.50 probably damaging INTOLERANT GPR154 171220 197 C F 0.00 0.02 probably damaging INTOLERANT GPR154 171265 212 T I 0.02 0.00 possibly damaging INTOLERANT GPR154 192291 315 I T 0.04 0.00 possibly damaging TOLERATED GPR81 002372 43 H Q 0.03 0.00 probably damaging TOLERATED GPR81 003000 253 D H 0.02 0.00 possibly damaging TOLERATED habp2 037280 534 G E 0.02 0.04 probably damaging INTOLERANT hmgb1 005275 156 E Q 0.00 0.02 possibly damaging TOLERATED icam1 015242 352 P L 0.00 0.03 probably damaging TOLERATED ifnar1 026361 359 T M 0.18 0.00 possibly damaging TOLERATED ikbkb 051414 554 R W 0.00 0.02 probably damaging INTOLERANT IL11RA 008813 395 R W 0.00 0.02 possibly damaging INTOLERANT il12b 011702 298 V F 0.00 0.02 possibly damaging INTOLERANT il12rb1 001913 3 P Q 0.02 0.00 possibly damaging NOT il12rb1 006479 47 P S 0.02 0.00 probably damaging INTOLERANT il12rb1 011131 156 R H 0.00 0.20 possibly damaging INTOLERANT il12rb1 016614 339 H Q 0.02 0.00 probably damaging TOLERATED il12rb1 019131 378 G R 0.15 0.30 possibly damaging TOLERATED il12rb2 062552 426 Q H 0.05 0.00 possibly damaging TOLERATED il12rb2 090637 808 L R 0.02 0.00 possibly damaging INTOLERANT il16 012729 446 N K 0.19 0.07 possibly damaging TOLERATED il17rb 020685 499 C R 0.05 0.00 probably damaging INTOLERANT il1a 008852 85 R Q 0.00 0.02 possibly damaging TOLERATED il1f7 006723 108 P L 0.25 0.02 probably damaging TOLERATED il1f7 007640 152 R W 0.04 0.00 possibly damaging INTOLERANT il1f7 007676 164 W R 0.26 0.02 probably damaging INTOLERANT il1f8 023765 36 R C 0.02 0.00 possibly damaging INTOLERANT IL1RL2 050275 550 L P 0.48 0.15 probably damaging INTOLERANT il21r 018792 191 R C 0.02 0.00 possibly damaging INTOLERANT il21r 023303 484 G S 0.15 0.00 possibly damaging INTOLERANT IL22RA2 013890 16 L P 0.00 0.05 possibly damaging TOLERATED il24 006020 125 H R 0.04 0.00 possibly damaging TOLERATED IL2RA 051390 272 I T 0.02 0.00 possibly damaging INTOLERANT il4r 023523 431 C R 0.09 0.13 probably damaging INTOLERANT il4r 024255 675 P S 0.02 0.02 probably damaging INTOLERANT il8ra 004787 335 R C 0.00 0.02 probably damaging INTOLERANT il9r 010027 288 Y C 0.04 0.00 possibly damaging TOLERATED ITGA8 113933 577 S F 0.04 0.02 possibly damaging INTOLERANT kel 011242 281 R W 0.00 0.02 possibly damaging INTOLERANT kel 022487 597 L P 0.06 0.00 probably damaging TOLERATED KLF2 002610 104 P L 0.00 0.24 probably damaging TOLERATED KLF2 002733 145 R P 0.02 0.00 possibly damaging TOLERATED klk1 006624 77 R H 0.05 0.02 possibly damaging TOLERATED klkb1 010996 143 N S 0.35 0.45 possibly damaging INTOLERANT klkb1 024372 202 H Q 0.06 0.00 probably damaging TOLERATED klkb1 025672 311 F V 0.06 0.00 possibly damaging TOLERATED klkb1 025912 358 T A 0.02 0.00 possibly damaging INTOLERANT klkb1 028723 442 Q P 0.00 0.02 probably damaging TOLERATED kng 010924 212 L P 0.03 0.00 probably damaging TOLERATED LIPE 002285 146 P S 0.05 0.00 possibly damaging TOLERATED LPA 066185 990 R Q 0.00 0.04 possibly damaging INTOLERANT LPA 077653 1298 W S 0.02 0.00 probably damaging INTOLERANT LPA 082124 1399 T P 0.04 0.15 possibly damaging INTOLERANT LPA 135459 2016 R C 0.18 0.25 probably damaging TOLERATED lta 002820 51 H P 0.04 0.15 probably damaging TOLERATED ltb 002371 70 G E 0.04 0.00 probably damaging TOLERATED LU 005649 77 R H 0.00 0.07 possibly damaging TOLERATED LU 006908 204 M K 0.00 0.04 probably damaging INTOLERANT LU 007673 282 R H 0.02 0.00 possibly damaging INTOLERANT LU 013166 581 Q L 0.00 0.05 possibly damaging INTOLERANT mc1r 004161 151 R C 0.00 0.11 probably damaging INTOLERANT mc1r 004174 155 I T 0.00 0.02 probably damaging INTOLERANT mc1r 004188 160 R W 0.00 0.09 probably damaging INTOLERANT MCP 020088 324 P L 0.02 0.00 probably damaging TOLERATED mmp9 003576 127 N K 0.06 0.00 possibly damaging INTOLERANT mmp9 006851 574 P R 0.13 0.09 possibly damaging TOLERATED NCOA1 169567 1272 P S 0.00 0.02 probably damaging INTOLERANT NFKBIB 010733 339 R W 0.00 0.02 possibly damaging INTOLERANT NR1I2 026555 66 P S 0.08 0.00 possibly damaging TOLERATED PCSK9 002430 47 R L 0.00 0.02 possibly damaging TOLERATED PCSK9 022104 554 H R 0.02 0.00 possibly damaging INTOLERANT PCSK9 024013 620 Q P 0.02 0.00 possibly damaging INTOLERANT PDIA2 003185 119 T R 0.00 0.20 probably damaging INTOLERANT PDIA2 004015 286 T M 0.33 0.09 possibly damaging INTOLERANT PDIA2 005019 382 P A 0.09 0.00 probably damaging INTOLERANT pfc 004845 204 P L 0.08 0.00 probably damaging TOLERATED pfc 004982 250 G S 0.06 0.00 possibly damaging TOLERATED PLA2G7 025780 191 K N 0.02 0.00 possibly damaging TOLERATED plat 018289 34 A D 0.05 0.00 possibly damaging INTOLERANT plat 022147 136 R S 0.02 0.00 possibly damaging INTOLERANT plat 022229 164 R W 0.00 0.05 probably damaging INTOLERANT plaur 005019 55 E G 0.02 0.00 probably damaging INTOLERANT plaur 015979 105 R Q 0.02 0.00 probably damaging INTOLERANT plaur 023669 317 L P 0.02 0.12 possibly damaging INTOLERANT plg 011411 133 H Q 0.00 0.02 probably damaging INTOLERANT plg 016987 261 R H 0.00 0.02 possibly damaging TOLERATED PON3 038810 179 A D 0.06 0.00 possibly damaging INTOLERANT proz 003385 70 E K 0.00 0.02 probably damaging INTOLERANT ptgdr 002096 7 R C 0.07 0.00 possibly damaging INTOLERANT ptgdr 002670 198 G E 0.02 0.00 possibly damaging INTOLERANT ptgs1 008937 53 R H 0.03 0.00 possibly damaging TOLERATED ptgs1 009843 149 R L 0.02 0.02 probably damaging INTOLERANT sele 002665 31 M I 0.02 0.00 probably damaging INTOLERANT sele 003689 149 S R 0.02 0.09 possibly damaging INTOLERANT sele 007803 468 H Y 0.17 0.02 possibly damaging TOLERATED sele 008804 550 P S 0.02 0.00 possibly damaging INTOLERANT sell 006165 193 F L 0.19 0.26 possibly damaging TOLERATED selp 018737 179 G R 0.02 0.00 probably damaging INTOLERANT selp 019362 230 C F 0.00 0.02 probably damaging INTOLERANT selp 036253 631 G V 0.02 0.00 probably damaging TOLERATED selp 037674 756 T P 0.02 0.14 possibly damaging TOLERATED serpina5 001677 64 N S 0.11 0.37 probably damaging INTOLERANT serpina5 001767 94 G V 0.02 0.00 probably damaging TOLERATED serpina5 001830 115 L P 0.00 0.02 possibly damaging INTOLERANT serpina5 004194 217 G R 0.07 0.00 possibly damaging TOLERATED serpinc1 003941 30 V E 0.00 0.02 possibly damaging INTOLERANT serpinc1 006829 147 T A 0.06 0.00 probably damaging TOLERATED serpine1 006411 209 R H 0.02 0.00 possibly damaging TOLERATED sftpa1 011228 9 N T 0.06 0.00 possibly damaging TOLERATED sftpa1 013398 219 R W 0.12 0.02 probably damaging INTOLERANT sftpb 002377 131 I T 0.35 0.50 possibly damaging TOLERATED slc4a1 008448 38 D A 0.00 0.02 possibly damaging TOLERATED slc4a1 012625 508 E K 0.04 0.00 possibly damaging INTOLERANT tnfaip3 009437 127 F C 0.37 0.02 probably damaging TOLERATED tnfrsf1a 010186 75 P L 0.14 0.00 probably damaging TOLERATED tnfrsf1b 027754 196 M R 0.18 0.20 possibly damaging INTOLERANT tnfrsf1b 028828 269 T P 0.03 0.00 possibly damaging INTOLERANT tnfrsf1b 036825 301 P R 0.02 0.00 probably damaging INTOLERANT trpv5 006280 154 R H 0.44 0.28 possibly damaging INTOLERANT trpv6 020019 157 C R 0.48 0.02 possibly damaging TOLERATED tyk2 022805 684 I S 0.00 0.09 probably damaging INTOLERANT vcam1 011691 318 S F 0.02 0.00 possibly damaging TOLERATED VLDLR 028428 613 R H 0.00 0.02 probably damaging INTOLERANT VWF 063455 484 H R 0.08 0.52 probably damaging TOLERATED VWF 082101 780 N K 0.02 0.00 possibly damaging INTOLERANT VWF 090011 817 H Q 0.25 0.00 probably damaging INTOLERANT VWF 090070 837 A D 0.05 0.00 possibly damaging TOLERATED VWF 103701 1162 P L 0.35 0.00 probably damaging TOLERATED VWF 106762 1229 V G 0.02 0.04 probably damaging TOLERATED VWF 106768 1231 N T 0.02 0.02 possibly damaging TOLERATED VWF 109840 1725 P S 0.04 0.00 probably damaging TOLERATED VWF 134645 2256 Q H 0.00 0.02 possibly damaging INTOLERANT VWF 140889 2287 R W 0.02 0.00 probably damaging INTOLERANT VWF 173985 2666 T M 0.04 0.00 possibly damaging INTOLERANT VWF 174101 2705 G R 0.00 0.02 probably damaging INTOLERANT