Hugo AllelePos a.a.Pos Residue Mutant ADfreq EDfreq PPHpredict SIFTpredict ABCG2 045561 296 D H 0.00 0.02 possibly damaging INTOLERANT ABCG2 063057 528 A T 0.00 0.02 benign INTOLERANT abo 019548 74 P S 0.12 0.14 possibly damaging INTOLERANT abo 021463 176 R G 0.23 0.00 probably damaging INTOLERANT abo 021583 216 F I 0.17 0.24 probably damaging INTOLERANT abo 021766 277 V M 0.17 0.24 benign INTOLERANT ache 004459 135 P A 0.00 0.02 probably damaging INTOLERANT ache 005113 353 H N 0.02 0.05 benign INTOLERANT ache 007252 592 P R 0.13 0.39 probably damaging INTOLERANT adra2b 005111 379 V I 0.00 0.05 benign INTOLERANT adrb1 008883 389 R L 0.07 0.00 probably damaging INTOLERANT adrb3 005001 353 R C 0.07 0.00 probably damaging INTOLERANT ALOX12 011763 430 R H 0.02 0.00 benign INTOLERANT APOBEC3F 012157 307 Y C 0.06 0.00 benign INTOLERANT aqp3 006530 43 V M 0.00 0.02 benign INTOLERANT AVPR1B 002692 65 K N 0.00 0.10 possibly damaging INTOLERANT bdkrb2 001771 14 R C 0.07 0.17 benign INTOLERANT 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 c3 025099 863 R K 0.02 0.00 benign INTOLERANT c3 038089 1367 I T 0.02 0.00 benign INTOLERANT c5 054636 928 R Q 0.04 0.00 benign INTOLERANT c5 055897 933 G V 0.02 0.00 probably damaging INTOLERANT c5 062577 1037 D N 0.02 0.00 benign INTOLERANT CASR 103234 990 R G 0.02 0.02 possibly damaging INTOLERANT CASR 103297 1011 Q E 0.33 0.02 benign INTOLERANT CBR3 013417 235 M L 0.02 0.00 possibly damaging INTOLERANT CBR3 013444 244 V M 0.52 0.26 benign INTOLERANT cd151 008814 120 T M 0.02 0.00 benign INTOLERANT ceacam8 002074 17 G V 0.36 0.00 probably damaging INTOLERANT ceacam8 013578 340 I M 0.36 0.00 benign INTOLERANT CFH 065652 551 I T 0.07 0.00 probably damaging INTOLERANT CFH 093400 1050 N Y 0.02 0.02 probably damaging INTOLERANT CFH 093428 1059 I T 0.06 0.00 benign INTOLERANT ckm 016423 243 G A 0.02 0.00 possibly damaging INTOLERANT COCH 006854 135 G R 0.02 0.00 probably damaging INTOLERANT csf2 003922 115 T I 0.00 0.02 benign INTOLERANT csf3r 016187 562 Y H 0.02 0.00 possibly damaging INTOLERANT 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 cyp4f2 021439 519 L M 0.17 0.07 benign INTOLERANT cyp4f3 011185 271 I T 0.02 0.00 probably damaging INTOLERANT dcn 032744 268 T M 0.10 0.00 benign INTOLERANT do 015732 300 L V 0.09 0.17 benign INTOLERANT ELN 009207 40 G V 0.00 0.02 unknown INTOLERANT ELN 034302 581 G R 0.02 0.09 unknown INTOLERANT ENG 002363 5 T M 0.15 0.07 unknown INTOLERANT ephb6 012535 267 P R 0.03 0.00 probably damaging INTOLERANT ermap 006789 4 A V 0.11 0.00 unknown INTOLERANT ermap 018909 259 C R 0.04 0.00 probably damaging INTOLERANT f11 016918 339 C F 0.07 0.00 probably damaging INTOLERANT f12 006333 207 P A 0.05 0.00 benign 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 012051 342 I T 0.00 0.02 benign INTOLERANT f2 005467 165 T M 0.04 0.07 benign INTOLERANT f2r 018836 257 V L 0.00 0.03 benign INTOLERANT f2r 019302 412 S Y 0.02 0.00 possibly damaging INTOLERANT f2rl1 002667 21 S F 0.00 0.04 unknown INTOLERANT f2rl2 006165 177 M V 0.00 0.02 benign INTOLERANT f2rl3 002366 296 F V 0.10 0.00 possibly damaging INTOLERANT f5 002055 15 G S 0.05 0.00 possibly damaging INTOLERANT f5 038592 534 R Q 0.02 0.00 benign INTOLERANT f5 045765 817 N T 0.02 0.07 possibly damaging INTOLERANT f5 046088 925 K E 0.27 0.23 benign INTOLERANT f5 046221 969 N S 0.02 0.00 benign INTOLERANT 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 047904 1530 E A 0.00 0.02 benign INTOLERANT f5 072877 2148 M T 0.00 0.05 probably damaging INTOLERANT f9 032922 461 T P 0.02 0.00 possibly damaging INTOLERANT fga 006909 456 T A 0.02 0.00 benign INTOLERANT fgb 006491 170 N H 0.02 0.00 benign INTOLERANT fgg 004433 191 G R 0.00 0.02 probably damaging INTOLERANT fgl1 011916 15 I T 0.08 0.33 benign 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 fgl2 001622 53 G E 0.06 0.11 benign INTOLERANT fuk 014248 146 V M 0.00 0.03 benign INTOLERANT fuk 020630 571 R H 0.04 0.00 benign INTOLERANT fuk 021983 701 P L 0.00 0.02 probably damaging INTOLERANT FUT2 025229 138 R C 0.00 0.02 possibly damaging INTOLERANT fut3 008647 68 W R 0.06 0.22 probably damaging INTOLERANT fut3 008759 105 T M 0.04 0.22 benign 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 033614 347 V M 0.02 0.00 benign INTOLERANT GAS6 042487 500 G R 0.08 0.00 benign INTOLERANT GAS6 043916 580 S L 0.04 0.00 possibly damaging INTOLERANT GBGT1 003346 20 L F 0.17 0.05 benign INTOLERANT GBGT1 010400 79 L P 0.06 0.00 benign INTOLERANT GBGT1 011567 163 R W 0.02 0.00 probably damaging INTOLERANT GBGT1 011678 200 D N 0.02 0.00 benign INTOLERANT GBGT1 011823 248 T I 0.02 0.00 benign INTOLERANT GBGT1 011951 291 I F 0.06 0.00 possibly damaging INTOLERANT gpr109a 002701 311 R C 0.00 0.20 benign INTOLERANT GPR154 122209 107 I N 0.40 0.50 probably damaging INTOLERANT GPR154 122254 122 R Q 0.02 0.00 benign INTOLERANT GPR154 155520 143 S G 0.04 0.00 benign 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 GYPC 042579 124 K E 0.00 0.07 benign INTOLERANT habp2 032290 393 E Q 0.00 0.04 benign INTOLERANT habp2 037280 534 G E 0.02 0.04 probably damaging INTOLERANT hmox1 003303 7 D H 0.00 0.11 benign INTOLERANT ifnar1 026106 307 V I 0.02 0.00 benign INTOLERANT ifngr1 022875 335 H P 0.02 0.00 unknown INTOLERANT IFNGR2 014075 58 T R 0.15 0.02 benign INTOLERANT IFNGR2 014093 64 Q R 0.19 0.09 benign INTOLERANT ikbkb 051414 554 R W 0.00 0.02 probably damaging INTOLERANT il10ra 004684 61 L V 0.02 0.00 benign INTOLERANT il10ra 015352 420 S L 0.00 0.09 benign 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 006479 47 P S 0.02 0.00 probably damaging INTOLERANT il12rb1 011131 156 R H 0.00 0.20 possibly damaging INTOLERANT il12rb2 090637 808 L R 0.02 0.00 possibly damaging INTOLERANT il15ra 027560 182 T N 0.30 0.61 benign INTOLERANT il16 006842 205 S L 0.17 0.00 benign INTOLERANT il17rb 020685 499 C R 0.05 0.00 probably damaging INTOLERANT il1a 010948 138 D N 0.02 0.00 benign INTOLERANT 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 il1r2 017988 292 E K 0.02 0.00 benign 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 IL2RA 051390 272 I T 0.02 0.00 possibly damaging INTOLERANT il3ra 013739 77 E G 0.00 0.02 unknown INTOLERANT il4r 023523 431 C R 0.09 0.13 probably damaging INTOLERANT il4r 023967 579 V I 0.11 0.00 benign INTOLERANT il4r 024255 675 P S 0.02 0.02 probably damaging INTOLERANT il4r 024486 752 S A 0.19 0.09 benign INTOLERANT il7r 006033 66 T I 0.21 0.24 benign INTOLERANT il8ra 004787 335 R C 0.00 0.02 probably damaging INTOLERANT irak4 014289 98 S R 0.03 0.00 benign INTOLERANT ITGA8 113933 577 S F 0.04 0.02 possibly damaging INTOLERANT jak3 011910 722 V I 0.00 0.05 benign INTOLERANT kel 007588 193 T M 0.00 0.02 benign INTOLERANT kel 011242 281 R W 0.00 0.02 possibly damaging INTOLERANT klkb1 010996 143 N S 0.35 0.45 possibly damaging INTOLERANT klkb1 025389 269 S C 0.04 0.00 benign INTOLERANT klkb1 025912 358 T A 0.02 0.00 possibly damaging INTOLERANT LIPE 002230 127 Q H 0.05 0.00 benign INTOLERANT LIPE 002430 194 A V 0.00 0.03 benign INTOLERANT LIPE 020761 497 K N 0.02 0.00 benign INTOLERANT LIPE 020765 499 N H 0.02 0.00 benign INTOLERANT LIPE 026251 938 R S 0.10 0.00 benign INTOLERANT 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 lta 002619 13 C R 0.27 0.29 benign INTOLERANT ltb 002888 111 A P 0.02 0.00 benign INTOLERANT 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 003984 92 V M 0.00 0.07 benign 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 004176 156 V L 0.02 0.00 benign INTOLERANT mc1r 004188 160 R W 0.00 0.09 probably damaging INTOLERANT mc1r 004198 163 R Q 0.02 0.02 benign INTOLERANT mc1r 004296 196 F L 0.07 0.00 benign INTOLERANT mmp9 003576 127 N K 0.06 0.00 possibly damaging INTOLERANT NCOA1 169465 1238 V I 0.02 0.00 benign INTOLERANT NCOA1 169567 1272 P S 0.00 0.02 probably damaging INTOLERANT NFKBIB 010733 339 R W 0.00 0.02 possibly damaging INTOLERANT nos3 017696 827 V M 0.00 0.02 benign INTOLERANT NR1I2 035005 409 A T 0.04 0.00 benign INTOLERANT PCSK9 002451 54 A V 0.02 0.09 benign INTOLERANT PCSK9 022104 554 H R 0.02 0.00 possibly damaging INTOLERANT PCSK9 024013 620 Q P 0.02 0.00 possibly damaging INTOLERANT PCSK9 025978 671 E G 0.38 0.02 benign INTOLERANT PDIA2 003185 119 T R 0.00 0.20 probably damaging INTOLERANT PDIA2 003654 225 K N 0.02 0.00 benign INTOLERANT PDIA2 004015 286 T M 0.33 0.09 possibly damaging INTOLERANT PDIA2 004173 316 A V 0.02 0.00 benign INTOLERANT PDIA2 005019 382 P A 0.09 0.00 probably damaging INTOLERANT PDIA2 005502 483 D V 0.02 0.00 benign INTOLERANT 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 plat 030619 285 L P 0.00 0.14 unknown INTOLERANT plaur 005019 55 E G 0.02 0.00 probably damaging INTOLERANT plaur 007236 86 T A 0.19 0.00 benign 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 022764 408 R W 0.02 0.00 benign INTOLERANT plg 032018 494 A V 0.02 0.00 benign INTOLERANT plg 032104 523 R W 0.02 0.00 benign INTOLERANT pltp 005807 124 S Y 0.02 0.02 benign INTOLERANT pon2 030199 311 S C 0.24 0.17 benign INTOLERANT PON3 038810 179 A D 0.06 0.00 possibly damaging INTOLERANT ppara 067581 162 L V 0.00 0.02 benign INTOLERANT PPARGC1A 078295 566 R C 0.02 0.02 unknown INTOLERANT PPARGC1A 078998 612 T M 0.04 0.09 unknown INTOLERANT proz 003385 70 E K 0.00 0.02 probably damaging INTOLERANT PSD4 011173 233 S P 0.00 0.04 unknown INTOLERANT PSD4 014014 456 P R 0.02 0.00 unknown INTOLERANT PSD4 014145 500 P T 0.02 0.00 unknown 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 002175 8 R W 0.00 0.05 unknown INTOLERANT ptgs1 009843 149 R L 0.02 0.02 probably damaging INTOLERANT sele 002633 21 A S 0.02 0.00 benign 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 008804 550 P S 0.02 0.00 possibly damaging INTOLERANT sele 008879 575 L F 0.00 0.05 benign INTOLERANT selp 018737 179 G R 0.02 0.00 probably damaging INTOLERANT selp 019298 209 V M 0.05 0.02 benign INTOLERANT selp 019362 230 C F 0.00 0.02 probably damaging INTOLERANT selp 020020 274 T I 0.09 0.00 benign INTOLERANT selp 022696 385 S L 0.02 0.00 benign INTOLERANT selp 029278 542 E K 0.02 0.00 benign INTOLERANT selp 035360 619 S A 0.04 0.00 benign INTOLERANT selp 036279 640 V L 0.54 0.04 benign INTOLERANT SERPINA10 004614 61 S G 0.56 0.20 unknown INTOLERANT SERPINA10 010878 384 Q R 0.00 0.02 benign INTOLERANT serpina5 001677 64 N S 0.11 0.37 probably damaging INTOLERANT serpina5 001830 115 L P 0.00 0.02 possibly damaging INTOLERANT serpinc1 003941 30 V E 0.00 0.02 possibly damaging INTOLERANT sftpa1 013398 219 R W 0.12 0.02 probably damaging INTOLERANT sftpb 003333 176 L F 0.05 0.00 benign INTOLERANT sftpb 005290 272 R H 0.04 0.00 benign INTOLERANT sftpc 006531 138 T N 0.00 0.13 benign INTOLERANT sftpc 007011 186 S N 0.02 0.22 benign INTOLERANT SLC14A1 008230 44 E K 0.28 0.09 benign INTOLERANT slc4a1 012625 508 E K 0.04 0.00 possibly damaging INTOLERANT TCF1 002316 98 A V 0.00 0.02 benign INTOLERANT thbs4 006983 55 L Q 0.02 0.00 benign INTOLERANT tirap 011317 9 A P 0.02 0.00 benign INTOLERANT tirap 011329 13 R W 0.00 0.02 benign INTOLERANT tirap 013093 96 D N 0.00 0.02 benign INTOLERANT tnfaip3 009431 125 A V 0.04 0.00 benign INTOLERANT tnfaip3 015747 766 A P 0.02 0.00 benign INTOLERANT 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 002295 8 A V 0.12 0.00 benign INTOLERANT trpv5 006280 154 R H 0.44 0.28 possibly damaging INTOLERANT trpv5 027095 712 L F 0.02 0.00 benign INTOLERANT tyk2 015648 197 R H 0.02 0.00 benign INTOLERANT tyk2 017128 362 V F 0.10 0.30 benign INTOLERANT tyk2 022805 684 I S 0.00 0.09 probably damaging INTOLERANT VLDLR 026735 561 I V 0.00 0.02 benign INTOLERANT VLDLR 028428 613 R H 0.00 0.02 probably damaging INTOLERANT vtn 003627 400 T M 0.48 0.43 benign INTOLERANT VWF 079710 740 M I 0.25 0.00 benign INTOLERANT 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 134554 2226 S Y 0.00 0.02 benign INTOLERANT 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 157236 2561 F Y 0.02 0.02 benign 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 ZNF202 006434 533 G A 0.00 0.02 benign INTOLERANT