********************************************************************************************** ** ** ** SNPs&GO ** ** Predicting disease associated variation using GO terms ** ** ** ********************************************************************************************** Sequence File: WNT1_HUMAN.seq Mutation Prediction RI Probability Method G2E Neutral 2 0.380 PhD-SNP: F[G]=56% F[E]=0% Nali=8 G2E Unclassified NA NA PANTHER: F[G]=NA F[E]=NA G2E Disease 2 0.596 SNPs&GO G2W Neutral 1 0.465 PhD-SNP: F[G]=56% F[W]=0% Nali=8 G2W Unclassified NA NA PANTHER: F[G]=NA F[W]=NA G2W Disease 3 0.635 SNPs&GO W4S Disease 0 0.503 PhD-SNP: F[W]=73% F[S]=0% Nali=10 W4S Unclassified NA NA PANTHER: F[W]=NA F[S]=NA W4S Disease 4 0.698 SNPs&GO A5G Neutral 6 0.183 PhD-SNP: F[A]=50% F[G]=0% Nali=13 A5G Unclassified NA NA PANTHER: F[A]=NA F[G]=NA A5G Neutral 3 0.329 SNPs&GO A5T Neutral 8 0.117 PhD-SNP: F[A]=50% F[T]=7% Nali=13 A5T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A5T Neutral 6 0.204 SNPs&GO A5V Neutral 8 0.087 PhD-SNP: F[A]=50% F[V]=14% Nali=13 A5V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A5V Neutral 6 0.220 SNPs&GO P8L Neutral 4 0.291 PhD-SNP: F[P]=53% F[L]=20% Nali=29 P8L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P8L Disease 0 0.506 SNPs&GO P8S Neutral 4 0.289 PhD-SNP: F[P]=53% F[S]=3% Nali=29 P8S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P8S Neutral 0 0.487 SNPs&GO G9A Neutral 5 0.229 PhD-SNP: F[G]=42% F[A]=13% Nali=30 G9A Unclassified NA NA PANTHER: F[G]=NA F[A]=NA G9A Neutral 3 0.341 SNPs&GO V11F Disease 2 0.618 PhD-SNP: F[V]=24% F[F]=7% Nali=53 V11F Unclassified NA NA PANTHER: F[V]=NA F[F]=NA V11F Disease 3 0.675 SNPs&GO A13P Disease 5 0.729 PhD-SNP: F[A]=33% F[P]=2% Nali=62 A13P Unclassified NA NA PANTHER: F[A]=NA F[P]=NA A13P Disease 5 0.733 SNPs&GO T14M Neutral 3 0.350 PhD-SNP: F[T]=19% F[M]=0% Nali=66 T14M Unclassified NA NA PANTHER: F[T]=NA F[M]=NA T14M Disease 3 0.630 SNPs&GO L16V Neutral 7 0.168 PhD-SNP: F[L]=49% F[V]=11% Nali=88 L16V Unclassified NA NA PANTHER: F[L]=NA F[V]=NA L16V Neutral 3 0.370 SNPs&GO A18S Neutral 4 0.299 PhD-SNP: F[A]=31% F[S]=9% Nali=89 A18S Unclassified NA NA PANTHER: F[A]=NA F[S]=NA A18S Disease 1 0.547 SNPs&GO A18T Neutral 5 0.236 PhD-SNP: F[A]=31% F[T]=8% Nali=89 A18T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A18T Neutral 1 0.428 SNPs&GO A18V Neutral 5 0.265 PhD-SNP: F[A]=31% F[V]=12% Nali=89 A18V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A18V Disease 0 0.503 SNPs&GO L19P Disease 7 0.838 PhD-SNP: F[L]=44% F[P]=0% Nali=92 L19P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L19P Disease 8 0.879 SNPs&GO L19R Disease 6 0.821 PhD-SNP: F[L]=44% F[R]=0% Nali=92 L19R Unclassified NA NA PANTHER: F[L]=NA F[R]=NA L19R Disease 8 0.917 SNPs&GO A20V Neutral 2 0.376 PhD-SNP: F[A]=20% F[V]=9% Nali=90 A20V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A20V Disease 2 0.612 SNPs&GO A21P Disease 7 0.847 PhD-SNP: F[A]=21% F[P]=0% Nali=86 A21P Unclassified NA NA PANTHER: F[A]=NA F[P]=NA A21P Disease 7 0.863 SNPs&GO A21S Neutral 6 0.205 PhD-SNP: F[A]=21% F[S]=22% Nali=86 A21S Unclassified NA NA PANTHER: F[A]=NA F[S]=NA A21S Neutral 1 0.450 SNPs&GO L22P Disease 7 0.832 PhD-SNP: F[L]=52% F[P]=1% Nali=91 L22P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L22P Disease 7 0.873 SNPs&GO L22V Neutral 5 0.255 PhD-SNP: F[L]=52% F[V]=8% Nali=91 L22V Unclassified NA NA PANTHER: F[L]=NA F[V]=NA L22V Neutral 0 0.484 SNPs&GO P23R Neutral 1 0.465 PhD-SNP: F[P]=19% F[R]=0% Nali=88 P23R Unclassified NA NA PANTHER: F[P]=NA F[R]=NA P23R Disease 5 0.762 SNPs&GO A25T Neutral 5 0.243 PhD-SNP: F[A]=29% F[T]=9% Nali=92 A25T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A25T Neutral 1 0.440 SNPs&GO A27D Disease 2 0.608 PhD-SNP: F[A]=28% F[D]=4% Nali=89 A27D Unclassified NA NA PANTHER: F[A]=NA F[D]=NA A27D Disease 6 0.776 SNPs&GO A27T Neutral 6 0.185 PhD-SNP: F[A]=28% F[T]=9% Nali=89 A27T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A27T Neutral 3 0.346 SNPs&GO A27V Neutral 5 0.241 PhD-SNP: F[A]=28% F[V]=6% Nali=89 A27V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A27V Neutral 2 0.419 SNPs&GO A28D Disease 4 0.718 PhD-SNP: F[A]=26% F[D]=0% Nali=89 A28D Unclassified NA NA PANTHER: F[A]=NA F[D]=NA A28D Disease 7 0.834 SNPs&GO G32D Disease 5 0.766 PhD-SNP: F[G]=40% F[D]=2% Nali=86 G32D Unclassified NA NA PANTHER: F[G]=NA F[D]=NA G32D Disease 6 0.798 SNPs&GO R33L Disease 4 0.711 PhD-SNP: F[R]=31% F[L]=6% Nali=96 R33L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R33L Disease 4 0.676 SNPs&GO G36V Disease 2 0.621 PhD-SNP: F[G]=39% F[V]=0% Nali=129 G36V Neutral 1 0.451 PANTHER: F[G]=62% F[V]=2% G36V Disease 8 0.885 SNPs&GO V38L Neutral 3 0.375 PhD-SNP: F[V]=15% F[L]=9% Nali=117 V38L Neutral 7 0.141 PANTHER: F[V]=45% F[L]=9% V38L Disease 7 0.852 SNPs&GO V38M Neutral 3 0.347 PhD-SNP: F[V]=15% F[M]=3% Nali=117 V38M Neutral 3 0.340 PANTHER: F[V]=45% F[M]=2% V38M Disease 7 0.859 SNPs&GO N39H Neutral 5 0.235 PhD-SNP: F[N]=18% F[H]=4% Nali=118 N39H Neutral 1 0.429 PANTHER: F[N]=43% F[H]=1% N39H Disease 6 0.789 SNPs&GO N39K Neutral 7 0.139 PhD-SNP: F[N]=18% F[K]=18% Nali=118 N39K Neutral 6 0.225 PANTHER: F[N]=43% F[K]=4% N39K Disease 4 0.695 SNPs&GO V40A Neutral 5 0.252 PhD-SNP: F[V]=21% F[A]=13% Nali=123 V40A Neutral 6 0.218 PANTHER: F[V]=38% F[A]=4% V40A Disease 6 0.786 SNPs&GO V40I Neutral 6 0.221 PhD-SNP: F[V]=21% F[I]=6% Nali=123 V40I Neutral 9 0.064 PANTHER: F[V]=38% F[I]=21% V40I Disease 1 0.527 SNPs&GO S43P Neutral 1 0.434 PhD-SNP: F[S]=28% F[P]=18% Nali=147 S43P Neutral 3 0.366 PANTHER: F[S]=32% F[P]=2% S43P Disease 8 0.892 SNPs&GO T48A Neutral 8 0.102 PhD-SNP: F[T]=17% F[A]=3% Nali=150 T48A Neutral 7 0.135 PANTHER: F[T]=33% F[A]=9% T48A Neutral 2 0.421 SNPs&GO D49A Neutral 4 0.275 PhD-SNP: F[D]=37% F[A]=3% Nali=146 D49A Neutral 6 0.220 PANTHER: F[D]=31% F[A]=4% D49A Disease 1 0.565 SNPs&GO S50F Neutral 3 0.353 PhD-SNP: F[S]=32% F[F]=1% Nali=150 S50F Disease 1 0.533 PANTHER: F[S]=37% F[F]=1% S50F Disease 7 0.846 SNPs&GO S50Y Neutral 3 0.341 PhD-SNP: F[S]=32% F[Y]=0% Nali=150 S50Y Disease 1 0.565 PANTHER: F[S]=37% F[Y]=0% S50Y Disease 7 0.848 SNPs&GO K51R Neutral 9 0.071 PhD-SNP: F[K]=10% F[R]=5% Nali=144 K51R Neutral 8 0.084 PANTHER: F[K]=28% F[R]=14% K51R Neutral 7 0.174 SNPs&GO S52G Neutral 9 0.061 PhD-SNP: F[S]=25% F[G]=16% Nali=152 S52G Neutral 7 0.173 PANTHER: F[S]=19% F[G]=3% S52G Neutral 5 0.231 SNPs&GO S52R Neutral 5 0.244 PhD-SNP: F[S]=25% F[R]=6% Nali=152 S52R Neutral 7 0.170 PANTHER: F[S]=19% F[R]=4% S52R Disease 1 0.535 SNPs&GO Q54K Neutral 6 0.200 PhD-SNP: F[Q]=26% F[K]=6% Nali=159 Q54K Neutral 7 0.134 PANTHER: F[Q]=27% F[K]=7% Q54K Disease 1 0.552 SNPs&GO L55Q Neutral 3 0.371 PhD-SNP: F[L]=32% F[Q]=1% Nali=163 L55Q Disease 2 0.613 PANTHER: F[L]=57% F[Q]=1% L55Q Disease 8 0.892 SNPs&GO L57V Neutral 8 0.098 PhD-SNP: F[L]=26% F[V]=4% Nali=186 L57V Neutral 5 0.244 PANTHER: F[L]=57% F[V]=7% L57V Neutral 0 0.496 SNPs&GO E58D Neutral 9 0.056 PhD-SNP: F[E]=14% F[D]=22% Nali=184 E58D Neutral 9 0.051 PANTHER: F[E]=25% F[D]=27% E58D Neutral 7 0.173 SNPs&GO E58Q Neutral 9 0.070 PhD-SNP: F[E]=14% F[Q]=9% Nali=184 E58Q Neutral 6 0.190 PANTHER: F[E]=25% F[Q]=4% E58Q Neutral 3 0.356 SNPs&GO S60C Neutral 6 0.217 PhD-SNP: F[S]=23% F[C]=1% Nali=223 S60C Disease 0 0.522 PANTHER: F[S]=41% F[C]=1% S60C Disease 4 0.693 SNPs&GO S60N Neutral 8 0.094 PhD-SNP: F[S]=23% F[N]=14% Nali=223 S60N Neutral 3 0.326 PANTHER: F[S]=41% F[N]=3% S60N Disease 4 0.683 SNPs&GO S60R Neutral 5 0.245 PhD-SNP: F[S]=23% F[R]=4% Nali=223 S60R Neutral 2 0.388 PANTHER: F[S]=41% F[R]=2% S60R Disease 6 0.789 SNPs&GO L61M Neutral 5 0.263 PhD-SNP: F[L]=49% F[M]=1% Nali=247 L61M Neutral 3 0.355 PANTHER: F[L]=57% F[M]=3% L61M Disease 4 0.704 SNPs&GO L61V Neutral 6 0.188 PhD-SNP: F[L]=49% F[V]=7% Nali=247 L61V Neutral 5 0.244 PANTHER: F[L]=57% F[V]=7% L61V Disease 3 0.647 SNPs&GO R66C Disease 1 0.557 PhD-SNP: F[R]=29% F[C]=0% Nali=385 R66C Disease 6 0.810 PANTHER: F[R]=61% F[C]=0% R66C Disease 9 0.946 SNPs&GO R66H Neutral 3 0.374 PhD-SNP: F[R]=29% F[H]=1% Nali=385 R66H Disease 2 0.618 PANTHER: F[R]=61% F[H]=1% R66H Disease 8 0.925 SNPs&GO R66L Disease 1 0.539 PhD-SNP: F[R]=29% F[L]=1% Nali=385 R66L Disease 1 0.530 PANTHER: F[R]=61% F[L]=2% R66L Disease 9 0.944 SNPs&GO R69Q Disease 0 0.518 PhD-SNP: F[R]=44% F[Q]=3% Nali=397 R69Q Neutral 4 0.313 PANTHER: F[R]=43% F[Q]=5% R69Q Disease 7 0.851 SNPs&GO I72T Neutral 3 0.360 PhD-SNP: F[I]=5% F[T]=0% Nali=405 I72T Neutral 2 0.394 PANTHER: F[I]=39% F[T]=3% I72T Disease 7 0.845 SNPs&GO I72V Neutral 6 0.193 PhD-SNP: F[I]=5% F[V]=5% Nali=405 I72V Neutral 8 0.098 PANTHER: F[I]=39% F[V]=23% I72V Neutral 3 0.348 SNPs&GO Q74H Neutral 6 0.195 PhD-SNP: F[Q]=8% F[H]=1% Nali=401 Q74H Neutral 2 0.412 PANTHER: F[Q]=27% F[H]=2% Q74H Disease 4 0.691 SNPs&GO P76R Disease 4 0.683 PhD-SNP: F[P]=58% F[R]=1% Nali=409 P76R Disease 5 0.739 PANTHER: F[P]=77% F[R]=1% P76R Disease 9 0.957 SNPs&GO L79M Neutral 9 0.050 PhD-SNP: F[L]=17% F[M]=39% Nali=421 L79M Neutral 0 0.476 PANTHER: F[L]=65% F[M]=3% L79M Disease 4 0.678 SNPs&GO H80N Neutral 6 0.222 PhD-SNP: F[H]=4% F[N]=3% Nali=424 H80N Neutral 7 0.173 PANTHER: F[H]=16% F[N]=4% H80N Disease 2 0.623 SNPs&GO S81R Disease 4 0.706 PhD-SNP: F[S]=40% F[R]=0% Nali=449 S81R Neutral 1 0.434 PANTHER: F[S]=29% F[R]=1% S81R Disease 9 0.946 SNPs&GO V82M Neutral 1 0.468 PhD-SNP: F[V]=39% F[M]=0% Nali=450 V82M Neutral 3 0.342 PANTHER: F[V]=29% F[M]=3% V82M Disease 7 0.834 SNPs&GO G84R Neutral 5 0.233 PhD-SNP: F[G]=2% F[R]=12% Nali=453 G84R Neutral 9 0.072 PANTHER: F[G]=8% F[R]=9% G84R Neutral 1 0.437 SNPs&GO G84W Neutral 1 0.469 PhD-SNP: F[G]=2% F[W]=0% Nali=453 G84W Disease 1 0.526 PANTHER: F[G]=8% F[W]=0% G84W Disease 6 0.808 SNPs&GO G85R Disease 6 0.782 PhD-SNP: F[G]=82% F[R]=0% Nali=455 G85R Disease 5 0.763 PANTHER: F[G]=77% F[R]=1% G85R Disease 9 0.961 SNPs&GO Q87H Neutral 4 0.280 PhD-SNP: F[Q]=27% F[H]=6% Nali=458 Q87H Neutral 9 0.073 PANTHER: F[Q]=14% F[H]=12% Q87H Neutral 2 0.422 SNPs&GO S88N Neutral 4 0.284 PhD-SNP: F[S]=8% F[N]=1% Nali=456 S88N Neutral 5 0.265 PANTHER: F[S]=20% F[N]=3% S88N Disease 5 0.737 SNPs&GO S88R Neutral 3 0.374 PhD-SNP: F[S]=8% F[R]=2% Nali=456 S88R Neutral 5 0.261 PANTHER: F[S]=20% F[R]=3% S88R Disease 6 0.788 SNPs&GO A89T Neutral 3 0.373 PhD-SNP: F[A]=41% F[T]=2% Nali=461 A89T Neutral 1 0.439 PANTHER: F[A]=62% F[T]=4% A89T Disease 7 0.872 SNPs&GO A89V Neutral 2 0.417 PhD-SNP: F[A]=41% F[V]=2% Nali=461 A89V Neutral 0 0.488 PANTHER: F[A]=62% F[V]=3% A89V Disease 7 0.868 SNPs&GO R91S Neutral 4 0.312 PhD-SNP: F[R]=13% F[S]=7% Nali=463 R91S Neutral 8 0.121 PANTHER: F[R]=20% F[S]=9% R91S Disease 2 0.581 SNPs&GO K94R Neutral 4 0.275 PhD-SNP: F[K]=14% F[R]=8% Nali=468 K94R Neutral 7 0.172 PANTHER: F[K]=32% F[R]=9% K94R Disease 1 0.532 SNPs&GO W95C Neutral 1 0.456 PhD-SNP: F[W]=4% F[C]=0% Nali=468 W95C Disease 5 0.729 PANTHER: F[W]=35% F[C]=0% W95C Disease 8 0.883 SNPs&GO Q96R Disease 3 0.646 PhD-SNP: F[Q]=90% F[R]=1% Nali=469 Q96R Neutral 5 0.229 PANTHER: F[Q]=33% F[R]=6% Q96R Disease 7 0.844 SNPs&GO F97L Disease 1 0.567 PhD-SNP: F[F]=92% F[L]=7% Nali=470 F97L Disease 9 0.929 PANTHER: F[F]=92% F[L]=1% F97L Disease 8 0.880 SNPs&GO R98Q Disease 3 0.664 PhD-SNP: F[R]=62% F[Q]=5% Nali=470 R98Q Disease 1 0.529 PANTHER: F[R]=65% F[Q]=2% R98Q Disease 8 0.918 SNPs&GO N99K Neutral 4 0.275 PhD-SNP: F[N]=26% F[K]=1% Nali=470 N99K Neutral 4 0.313 PANTHER: F[N]=39% F[K]=4% N99K Disease 5 0.729 SNPs&GO R100C Disease 6 0.788 PhD-SNP: F[R]=38% F[C]=0% Nali=470 R100C Disease 7 0.856 PANTHER: F[R]=65% F[C]=0% R100C Disease 9 0.970 SNPs&GO R100H Neutral 4 0.277 PhD-SNP: F[R]=38% F[H]=14% Nali=470 R100H Disease 4 0.692 PANTHER: F[R]=65% F[H]=1% R100H Disease 8 0.882 SNPs&GO R101C Disease 7 0.867 PhD-SNP: F[R]=89% F[C]=0% Nali=472 R101C Disease 10 0.988 PANTHER: F[R]=93% F[C]=0% R101C Disease 10 0.979 SNPs&GO W102S Disease 8 0.908 PhD-SNP: F[W]=100% F[S]=0% Nali=473 W102S Disease 10 0.997 PANTHER: F[W]=98% F[S]=0% W102S Disease 9 0.972 SNPs&GO N103T Disease 4 0.708 PhD-SNP: F[N]=96% F[T]=0% Nali=473 N103T Disease 10 0.983 PANTHER: F[N]=95% F[T]=0% N103T Disease 9 0.968 SNPs&GO P105R Disease 1 0.568 PhD-SNP: F[P]=17% F[R]=0% Nali=444 P105R Neutral 1 0.433 PANTHER: F[P]=34% F[R]=2% P105R Disease 9 0.930 SNPs&GO A107T Neutral 6 0.177 PhD-SNP: F[A]=7% F[T]=6% Nali=466 A107T Neutral 8 0.076 PANTHER: F[A]=13% F[T]=11% A107T Neutral 2 0.414 SNPs&GO P108A Neutral 8 0.110 PhD-SNP: F[P]=8% F[A]=6% Nali=464 P108A Neutral 9 0.068 PANTHER: F[P]=6% F[A]=6% P108A Neutral 5 0.270 SNPs&GO P108S Neutral 7 0.149 PhD-SNP: F[P]=8% F[S]=6% Nali=464 P108S Neutral 9 0.074 PANTHER: F[P]=6% F[S]=7% P108S Neutral 4 0.314 SNPs&GO G109E Disease 1 0.526 PhD-SNP: F[G]=22% F[E]=6% Nali=437 G109E Neutral 2 0.408 PANTHER: F[G]=41% F[E]=3% G109E Disease 8 0.917 SNPs&GO P110L Neutral 5 0.225 PhD-SNP: F[P]=17% F[L]=5% Nali=436 P110L Neutral 5 0.266 PANTHER: F[P]=18% F[L]=2% P110L Disease 3 0.647 SNPs&GO L112F Neutral 1 0.474 PhD-SNP: F[L]=20% F[F]=2% Nali=434 L112F Neutral 3 0.366 PANTHER: F[L]=32% F[F]=3% L112F Disease 7 0.845 SNPs&GO K115N Neutral 4 0.299 PhD-SNP: F[K]=28% F[N]=8% Nali=473 K115N Disease 1 0.544 PANTHER: F[K]=60% F[N]=2% K115N Disease 8 0.916 SNPs&GO I116L Neutral 5 0.274 PhD-SNP: F[I]=27% F[L]=13% Nali=476 I116L Neutral 5 0.236 PANTHER: F[I]=54% F[L]=10% I116L Disease 6 0.799 SNPs&GO I116M Neutral 3 0.358 PhD-SNP: F[I]=27% F[M]=4% Nali=476 I116M Disease 0 0.513 PANTHER: F[I]=54% F[M]=2% I116M Disease 8 0.902 SNPs&GO V117G Disease 3 0.643 PhD-SNP: F[V]=13% F[G]=0% Nali=477 V117G Disease 4 0.720 PANTHER: F[V]=48% F[G]=0% V117G Disease 10 0.978 SNPs&GO V117I Neutral 6 0.213 PhD-SNP: F[V]=13% F[I]=6% Nali=477 V117I Neutral 8 0.123 PANTHER: F[V]=48% F[I]=21% V117I Disease 1 0.567 SNPs&GO R119G Disease 4 0.723 PhD-SNP: F[R]=37% F[G]=1% Nali=472 R119G Disease 3 0.633 PANTHER: F[R]=65% F[G]=1% R119G Disease 9 0.967 SNPs&GO R122G Disease 8 0.914 PhD-SNP: F[R]=73% F[G]=0% Nali=512 R122G Disease 3 0.633 PANTHER: F[R]=65% F[G]=1% R122G Disease 10 0.979 SNPs&GO R122L Disease 9 0.948 PhD-SNP: F[R]=73% F[L]=0% Nali=512 R122L Disease 2 0.616 PANTHER: F[R]=65% F[L]=1% R122L Disease 10 0.988 SNPs&GO R122Q Disease 7 0.872 PhD-SNP: F[R]=73% F[Q]=1% Nali=512 R122Q Disease 1 0.529 PANTHER: F[R]=65% F[Q]=2% R122Q Disease 9 0.962 SNPs&GO T124A Neutral 5 0.249 PhD-SNP: F[T]=44% F[A]=26% Nali=518 T124A Neutral 3 0.337 PANTHER: F[T]=58% F[A]=6% T124A Disease 6 0.795 SNPs&GO A125E Disease 9 0.943 PhD-SNP: F[A]=88% F[E]=0% Nali=518 A125E Neutral 0 0.489 PANTHER: F[A]=47% F[E]=2% A125E Disease 10 0.986 SNPs&GO A125S Disease 7 0.839 PhD-SNP: F[A]=88% F[S]=7% Nali=518 A125S Neutral 7 0.163 PANTHER: F[A]=47% F[S]=14% A125S Disease 9 0.937 SNPs&GO I127V Neutral 9 0.065 PhD-SNP: F[I]=17% F[V]=42% Nali=520 I127V Neutral 9 0.073 PANTHER: F[I]=37% F[V]=32% I127V Neutral 6 0.183 SNPs&GO F128L Neutral 1 0.462 PhD-SNP: F[F]=9% F[L]=4% Nali=520 F128L Neutral 3 0.346 PANTHER: F[F]=47% F[L]=4% F128L Disease 8 0.910 SNPs&GO A129S Disease 5 0.740 PhD-SNP: F[A]=89% F[S]=9% Nali=520 A129S Disease 8 0.909 PANTHER: F[A]=91% F[S]=1% A129S Disease 9 0.950 SNPs&GO A129T Disease 7 0.846 PhD-SNP: F[A]=89% F[T]=0% Nali=520 A129T Disease 9 0.932 PANTHER: F[A]=91% F[T]=1% A129T Disease 9 0.973 SNPs&GO I130T Disease 5 0.751 PhD-SNP: F[I]=67% F[T]=0% Nali=520 I130T Disease 1 0.534 PANTHER: F[I]=54% F[T]=2% I130T Disease 9 0.958 SNPs&GO T131P Disease 7 0.864 PhD-SNP: F[T]=27% F[P]=0% Nali=519 T131P Disease 0 0.525 PANTHER: F[T]=34% F[P]=1% T131P Disease 9 0.969 SNPs&GO G134A Neutral 5 0.260 PhD-SNP: F[G]=74% F[A]=19% Nali=522 G134A Neutral 8 0.104 PANTHER: F[G]=39% F[A]=22% G134A Disease 0 0.506 SNPs&GO G134R Disease 7 0.836 PhD-SNP: F[G]=74% F[R]=0% Nali=522 G134R Disease 1 0.527 PANTHER: F[G]=39% F[R]=1% G134R Disease 9 0.968 SNPs&GO V135F Disease 8 0.909 PhD-SNP: F[V]=68% F[F]=0% Nali=522 V135F Disease 2 0.595 PANTHER: F[V]=57% F[F]=1% V135F Disease 10 0.984 SNPs&GO V135I Neutral 2 0.396 PhD-SNP: F[V]=68% F[I]=10% Nali=522 V135I Neutral 6 0.224 PANTHER: F[V]=57% F[I]=11% V135I Disease 6 0.806 SNPs&GO H137Y Neutral 2 0.404 PhD-SNP: F[H]=53% F[Y]=22% Nali=522 H137Y Disease 1 0.549 PANTHER: F[H]=65% F[Y]=2% H137Y Disease 8 0.900 SNPs&GO R141P Disease 6 0.794 PhD-SNP: F[R]=61% F[P]=0% Nali=523 R141P Disease 4 0.716 PANTHER: F[R]=64% F[P]=1% R141P Disease 9 0.968 SNPs&GO S142F Disease 1 0.534 PhD-SNP: F[S]=13% F[F]=1% Nali=523 S142F Disease 3 0.646 PANTHER: F[S]=39% F[F]=0% S142F Disease 9 0.934 SNPs&GO G146R Disease 2 0.604 PhD-SNP: F[G]=95% F[R]=0% Nali=521 G146R Disease 10 0.996 PANTHER: F[G]=98% F[R]=0% G146R Disease 8 0.899 SNPs&GO S147F Neutral 6 0.195 PhD-SNP: F[S]=9% F[F]=0% Nali=524 S147F Disease 2 0.575 PANTHER: F[S]=31% F[F]=1% S147F Disease 5 0.759 SNPs&GO C151R Disease 6 0.800 PhD-SNP: F[C]=99% F[R]=0% Nali=523 C151R Disease 10 0.996 PANTHER: F[C]=98% F[R]=0% C151R Disease 9 0.958 SNPs&GO T152A Neutral 6 0.195 PhD-SNP: F[T]=15% F[A]=3% Nali=520 T152A Neutral 6 0.212 PANTHER: F[T]=41% F[A]=8% T152A Disease 3 0.666 SNPs&GO T152K Neutral 2 0.401 PhD-SNP: F[T]=15% F[K]=1% Nali=520 T152K Neutral 2 0.410 PANTHER: F[T]=41% F[K]=2% T152K Disease 8 0.895 SNPs&GO T152M Neutral 5 0.246 PhD-SNP: F[T]=15% F[M]=0% Nali=520 T152M Disease 2 0.620 PANTHER: F[T]=41% F[M]=1% T152M Disease 8 0.876 SNPs&GO T152P Disease 1 0.532 PhD-SNP: F[T]=15% F[P]=1% Nali=520 T152P Disease 0 0.503 PANTHER: F[T]=41% F[P]=1% T152P Disease 8 0.920 SNPs&GO T152S Neutral 9 0.072 PhD-SNP: F[T]=15% F[S]=23% Nali=520 T152S Neutral 7 0.151 PANTHER: F[T]=41% F[S]=13% T152S Neutral 2 0.388 SNPs&GO R156G Neutral 3 0.366 PhD-SNP: F[R]=17% F[G]=2% Nali=509 R156G Neutral 3 0.363 PANTHER: F[R]=31% F[G]=2% R156G Disease 7 0.861 SNPs&GO R156Q Neutral 7 0.173 PhD-SNP: F[R]=17% F[Q]=7% Nali=509 R156Q Neutral 5 0.275 PANTHER: F[R]=31% F[Q]=4% R156Q Disease 4 0.681 SNPs&GO R157Q Neutral 5 0.246 PhD-SNP: F[R]=20% F[Q]=4% Nali=513 R157Q Neutral 5 0.270 PANTHER: F[R]=34% F[Q]=5% R157Q Disease 5 0.726 SNPs&GO R157W Disease 2 0.603 PhD-SNP: F[R]=20% F[W]=0% Nali=513 R157W Disease 6 0.776 PANTHER: F[R]=34% F[W]=0% R157W Disease 9 0.953 SNPs&GO R158C Disease 5 0.738 PhD-SNP: F[R]=40% F[C]=0% Nali=509 R158C Disease 5 0.740 PANTHER: F[R]=32% F[C]=0% R158C Disease 9 0.961 SNPs&GO R158G Neutral 3 0.357 PhD-SNP: F[R]=40% F[G]=9% Nali=509 R158G Neutral 2 0.419 PANTHER: F[R]=32% F[G]=2% R158G Disease 7 0.868 SNPs&GO G159R Neutral 1 0.457 PhD-SNP: F[G]=48% F[R]=2% Nali=505 G159R Neutral 1 0.462 PANTHER: F[G]=42% F[R]=2% G159R Disease 7 0.858 SNPs&GO G159S Neutral 4 0.302 PhD-SNP: F[G]=48% F[S]=6% Nali=505 G159S Neutral 4 0.285 PANTHER: F[G]=42% F[S]=5% G159S Disease 4 0.704 SNPs&GO G161E Neutral 2 0.380 PhD-SNP: F[G]=23% F[E]=3% Nali=508 G161E Disease 2 0.610 PANTHER: F[G]=73% F[E]=1% G161E Disease 8 0.918 SNPs&GO G161R Neutral 3 0.346 PhD-SNP: F[G]=23% F[R]=1% Nali=508 G161R Disease 4 0.692 PANTHER: F[G]=73% F[R]=1% G161R Disease 8 0.909 SNPs&GO G162D Neutral 4 0.319 PhD-SNP: F[G]=25% F[D]=5% Nali=502 G162D Neutral 2 0.415 PANTHER: F[G]=37% F[D]=2% G162D Disease 7 0.836 SNPs&GO G162V Neutral 4 0.277 PhD-SNP: F[G]=25% F[V]=4% Nali=502 G162V Neutral 7 0.135 PANTHER: F[G]=37% F[V]=12% G162V Neutral 1 0.469 SNPs&GO P163R Neutral 7 0.144 PhD-SNP: F[P]=21% F[R]=10% Nali=502 P163R Neutral 8 0.122 PANTHER: F[P]=34% F[R]=13% P163R Neutral 1 0.436 SNPs&GO P163T Neutral 7 0.138 PhD-SNP: F[P]=21% F[T]=3% Nali=502 P163T Neutral 4 0.293 PANTHER: F[P]=34% F[T]=3% P163T Disease 0 0.516 SNPs&GO D164E Neutral 4 0.297 PhD-SNP: F[D]=34% F[E]=8% Nali=507 D164E Neutral 2 0.390 PANTHER: F[D]=68% F[E]=5% D164E Disease 8 0.891 SNPs&GO W165C Disease 8 0.884 PhD-SNP: F[W]=72% F[C]=0% Nali=524 W165C Disease 8 0.885 PANTHER: F[W]=76% F[C]=0% W165C Disease 10 0.982 SNPs&GO W167C Disease 9 0.940 PhD-SNP: F[W]=95% F[C]=0% Nali=527 W167C Disease 10 0.995 PANTHER: F[W]=97% F[C]=0% W167C Disease 10 0.987 SNPs&GO W167R Disease 8 0.922 PhD-SNP: F[W]=95% F[R]=1% Nali=527 W167R Disease 10 0.992 PANTHER: F[W]=97% F[R]=0% W167R Disease 10 0.980 SNPs&GO G168R Disease 8 0.918 PhD-SNP: F[G]=85% F[R]=1% Nali=526 G168R Disease 6 0.780 PANTHER: F[G]=79% F[R]=0% G168R Disease 10 0.985 SNPs&GO G169A Disease 7 0.858 PhD-SNP: F[G]=93% F[A]=1% Nali=530 G169A Disease 10 0.988 PANTHER: F[G]=98% F[A]=0% G169A Disease 9 0.975 SNPs&GO G169C Disease 9 0.939 PhD-SNP: F[G]=93% F[C]=0% Nali=530 G169C Disease 10 0.996 PANTHER: F[G]=98% F[C]=0% G169C Disease 10 0.985 SNPs&GO G169D Disease 8 0.902 PhD-SNP: F[G]=93% F[D]=0% Nali=530 G169D Disease 10 0.994 PANTHER: F[G]=98% F[D]=0% G169D Disease 9 0.975 SNPs&GO G169S Disease 7 0.857 PhD-SNP: F[G]=93% F[S]=1% Nali=530 G169S Disease 10 0.991 PANTHER: F[G]=98% F[S]=0% G169S Disease 9 0.966 SNPs&GO C170G Disease 7 0.857 PhD-SNP: F[C]=99% F[G]=0% Nali=530 C170G Disease 10 0.990 PANTHER: F[C]=98% F[G]=0% C170G Disease 9 0.972 SNPs&GO C170R Disease 9 0.929 PhD-SNP: F[C]=99% F[R]=0% Nali=530 C170R Disease 10 0.996 PANTHER: F[C]=98% F[R]=0% C170R Disease 10 0.977 SNPs&GO S171G Neutral 4 0.308 PhD-SNP: F[S]=63% F[G]=22% Nali=530 S171G Neutral 1 0.465 PANTHER: F[S]=60% F[G]=3% S171G Disease 8 0.908 SNPs&GO D172H Disease 6 0.798 PhD-SNP: F[D]=67% F[H]=9% Nali=531 D172H Disease 5 0.744 PANTHER: F[D]=68% F[H]=1% D172H Disease 9 0.973 SNPs&GO D172N Disease 8 0.881 PhD-SNP: F[D]=67% F[N]=0% Nali=531 D172N Disease 0 0.515 PANTHER: F[D]=68% F[N]=3% D172N Disease 10 0.984 SNPs&GO N173D Neutral 6 0.217 PhD-SNP: F[N]=65% F[D]=28% Nali=534 N173D Neutral 1 0.442 PANTHER: F[N]=62% F[D]=4% N173D Disease 7 0.840 SNPs&GO N173S Disease 4 0.700 PhD-SNP: F[N]=65% F[S]=0% Nali=534 N173S Neutral 0 0.482 PANTHER: F[N]=62% F[S]=3% N173S Disease 9 0.935 SNPs&GO I174T Disease 3 0.645 PhD-SNP: F[I]=34% F[T]=1% Nali=534 I174T Neutral 1 0.473 PANTHER: F[I]=43% F[T]=2% I174T Disease 9 0.938 SNPs&GO G177A Disease 6 0.780 PhD-SNP: F[G]=85% F[A]=6% Nali=535 G177A Disease 1 0.556 PANTHER: F[G]=79% F[A]=3% G177A Disease 9 0.963 SNPs&GO L179F Neutral 2 0.410 PhD-SNP: F[L]=5% F[F]=0% Nali=533 L179F Neutral 7 0.144 PANTHER: F[L]=18% F[F]=7% L179F Disease 1 0.559 SNPs&GO G181S Neutral 8 0.095 PhD-SNP: F[G]=7% F[S]=52% Nali=535 G181S Neutral 9 0.071 PANTHER: F[G]=30% F[S]=28% G181S Neutral 5 0.227 SNPs&GO R182Q Disease 3 0.634 PhD-SNP: F[R]=48% F[Q]=6% Nali=534 R182Q Disease 1 0.551 PANTHER: F[R]=67% F[Q]=2% R182Q Disease 9 0.953 SNPs&GO R182W Disease 7 0.873 PhD-SNP: F[R]=48% F[W]=0% Nali=534 R182W Disease 8 0.901 PANTHER: F[R]=67% F[W]=0% R182W Disease 10 0.981 SNPs&GO E183D Neutral 5 0.233 PhD-SNP: F[E]=22% F[D]=13% Nali=535 E183D Neutral 7 0.138 PANTHER: F[E]=42% F[D]=17% E183D Disease 2 0.583 SNPs&GO F184V Disease 9 0.927 PhD-SNP: F[F]=91% F[V]=0% Nali=535 F184V Disease 10 0.975 PANTHER: F[F]=93% F[V]=0% F184V Disease 10 0.983 SNPs&GO V185L Neutral 6 0.198 PhD-SNP: F[V]=40% F[L]=35% Nali=535 V185L Neutral 4 0.315 PANTHER: F[V]=58% F[L]=7% V185L Disease 7 0.830 SNPs&GO V185M Neutral 2 0.425 PhD-SNP: F[V]=40% F[M]=7% Nali=535 V185M Disease 2 0.595 PANTHER: F[V]=58% F[M]=1% V185M Disease 8 0.899 SNPs&GO G188R Neutral 6 0.190 PhD-SNP: F[G]=13% F[R]=38% Nali=520 G188R Neutral 1 0.464 PANTHER: F[G]=30% F[R]=1% G188R Disease 4 0.719 SNPs&GO G188W Disease 4 0.714 PhD-SNP: F[G]=13% F[W]=0% Nali=520 G188W Disease 7 0.855 PANTHER: F[G]=30% F[W]=0% G188W Disease 9 0.947 SNPs&GO E189K Disease 7 0.854 PhD-SNP: F[E]=64% F[K]=5% Nali=533 E189K Disease 9 0.958 PANTHER: F[E]=92% F[K]=0% E189K Disease 10 0.983 SNPs&GO K190N Neutral 1 0.426 PhD-SNP: F[K]=29% F[N]=6% Nali=534 K190N Neutral 3 0.328 PANTHER: F[K]=24% F[N]=2% K190N Disease 7 0.844 SNPs&GO G191A Neutral 2 0.417 PhD-SNP: F[G]=33% F[A]=6% Nali=528 G191A Disease 1 0.556 PANTHER: F[G]=79% F[A]=3% G191A Disease 8 0.890 SNPs&GO G191R Disease 1 0.572 PhD-SNP: F[G]=33% F[R]=9% Nali=528 G191R Disease 6 0.780 PANTHER: F[G]=79% F[R]=0% G191R Disease 9 0.930 SNPs&GO R192G Disease 1 0.563 PhD-SNP: F[R]=33% F[G]=5% Nali=526 R192G Disease 3 0.653 PANTHER: F[R]=67% F[G]=1% R192G Disease 9 0.966 SNPs&GO R192W Disease 5 0.767 PhD-SNP: F[R]=33% F[W]=1% Nali=526 R192W Disease 8 0.901 PANTHER: F[R]=67% F[W]=0% R192W Disease 9 0.970 SNPs&GO D193V Disease 8 0.884 PhD-SNP: F[D]=56% F[V]=0% Nali=527 D193V Neutral 1 0.457 PANTHER: F[D]=31% F[V]=1% D193V Disease 9 0.964 SNPs&GO R195C Disease 7 0.873 PhD-SNP: F[R]=65% F[C]=0% Nali=535 R195C Disease 6 0.824 PANTHER: F[R]=44% F[C]=0% R195C Disease 9 0.971 SNPs&GO R195L Disease 7 0.872 PhD-SNP: F[R]=65% F[L]=2% Nali=535 R195L Neutral 0 0.493 PANTHER: F[R]=44% F[L]=2% R195L Disease 9 0.970 SNPs&GO R195S Disease 6 0.798 PhD-SNP: F[R]=65% F[S]=2% Nali=535 R195S Neutral 1 0.434 PANTHER: F[R]=44% F[S]=3% R195S Disease 9 0.961 SNPs&GO L197F Disease 4 0.686 PhD-SNP: F[L]=48% F[F]=1% Nali=540 L197F Neutral 1 0.428 PANTHER: F[L]=29% F[F]=2% L197F Disease 8 0.915 SNPs&GO L197I Disease 2 0.607 PhD-SNP: F[L]=48% F[I]=4% Nali=540 L197I Neutral 4 0.282 PANTHER: F[L]=29% F[I]=4% L197I Disease 8 0.886 SNPs&GO M198K Disease 9 0.936 PhD-SNP: F[M]=68% F[K]=0% Nali=543 M198K Neutral 3 0.326 PANTHER: F[M]=22% F[K]=2% M198K Disease 9 0.970 SNPs&GO M198T Disease 7 0.864 PhD-SNP: F[M]=68% F[T]=2% Nali=543 M198T Neutral 8 0.118 PANTHER: F[M]=22% F[T]=11% M198T Disease 9 0.929 SNPs&GO M198V Disease 2 0.606 PhD-SNP: F[M]=68% F[V]=14% Nali=543 M198V Neutral 8 0.095 PANTHER: F[M]=22% F[V]=14% M198V Disease 5 0.756 SNPs&GO N199I Disease 8 0.898 PhD-SNP: F[N]=68% F[I]=0% Nali=542 N199I Disease 10 0.986 PANTHER: F[N]=92% F[I]=0% N199I Disease 10 0.983 SNPs&GO H201Y Disease 8 0.893 PhD-SNP: F[H]=94% F[Y]=0% Nali=540 H201Y Disease 2 0.589 PANTHER: F[H]=67% F[Y]=2% H201Y Disease 9 0.969 SNPs&GO N202S Disease 7 0.873 PhD-SNP: F[N]=96% F[S]=0% Nali=540 N202S Disease 10 0.987 PANTHER: F[N]=97% F[S]=0% N202S Disease 9 0.970 SNPs&GO N203D Disease 7 0.837 PhD-SNP: F[N]=79% F[D]=0% Nali=541 N203D Disease 9 0.950 PANTHER: F[N]=93% F[D]=0% N203D Disease 10 0.976 SNPs&GO N203K Disease 8 0.904 PhD-SNP: F[N]=79% F[K]=1% Nali=541 N203K Disease 9 0.971 PANTHER: F[N]=93% F[K]=0% N203K Disease 10 0.982 SNPs&GO N203Y Disease 8 0.901 PhD-SNP: F[N]=79% F[Y]=2% Nali=541 N203Y Disease 10 0.986 PANTHER: F[N]=93% F[Y]=0% N203Y Disease 10 0.977 SNPs&GO E204K Disease 6 0.821 PhD-SNP: F[E]=54% F[K]=4% Nali=542 E204K Neutral 5 0.270 PANTHER: F[E]=39% F[K]=6% E204K Disease 9 0.936 SNPs&GO E204Q Disease 4 0.681 PhD-SNP: F[E]=54% F[Q]=2% Nali=542 E204Q Neutral 6 0.201 PANTHER: F[E]=39% F[Q]=9% E204Q Disease 6 0.785 SNPs&GO G206D Disease 8 0.890 PhD-SNP: F[G]=99% F[D]=0% Nali=543 G206D Disease 10 0.983 PANTHER: F[G]=96% F[D]=0% G206D Disease 9 0.957 SNPs&GO R207C Disease 8 0.893 PhD-SNP: F[R]=87% F[C]=0% Nali=541 R207C Disease 10 0.997 PANTHER: F[R]=97% F[C]=0% R207C Disease 9 0.971 SNPs&GO R207H Disease 7 0.840 PhD-SNP: F[R]=87% F[H]=0% Nali=541 R207H Disease 10 0.994 PANTHER: F[R]=97% F[H]=0% R207H Disease 9 0.956 SNPs&GO R207L Disease 8 0.891 PhD-SNP: F[R]=87% F[L]=1% Nali=541 R207L Disease 10 0.993 PANTHER: F[R]=97% F[L]=0% R207L Disease 9 0.968 SNPs&GO T208M Neutral 8 0.122 PhD-SNP: F[T]=8% F[M]=7% Nali=535 T208M Neutral 9 0.073 PANTHER: F[T]=10% F[M]=11% T208M Neutral 6 0.179 SNPs&GO T208S Neutral 6 0.182 PhD-SNP: F[T]=8% F[S]=1% Nali=535 T208S Neutral 7 0.127 PANTHER: F[T]=10% F[S]=4% T208S Neutral 4 0.310 SNPs&GO T209I Neutral 4 0.312 PhD-SNP: F[T]=8% F[I]=6% Nali=535 T209I Neutral 3 0.369 PANTHER: F[T]=27% F[I]=2% T209I Disease 5 0.773 SNPs&GO T209N Neutral 1 0.472 PhD-SNP: F[T]=8% F[N]=0% Nali=535 T209N Neutral 4 0.308 PANTHER: F[T]=27% F[N]=3% T209N Disease 6 0.824 SNPs&GO V210I Neutral 5 0.226 PhD-SNP: F[V]=65% F[I]=20% Nali=535 V210I Neutral 5 0.237 PANTHER: F[V]=58% F[I]=11% V210I Disease 5 0.762 SNPs&GO V210L Disease 0 0.507 PhD-SNP: F[V]=65% F[L]=11% Nali=535 V210L Neutral 4 0.315 PANTHER: F[V]=58% F[L]=7% V210L Disease 8 0.905 SNPs&GO S212T Neutral 7 0.156 PhD-SNP: F[S]=17% F[T]=4% Nali=531 S212T Neutral 7 0.143 PANTHER: F[S]=29% F[T]=11% S212T Neutral 3 0.364 SNPs&GO E213D Neutral 6 0.184 PhD-SNP: F[E]=8% F[D]=0% Nali=533 E213D Neutral 2 0.381 PANTHER: F[E]=64% F[D]=5% E213D Disease 6 0.790 SNPs&GO E213K Neutral 5 0.246 PhD-SNP: F[E]=8% F[K]=6% Nali=533 E213K Neutral 0 0.493 PANTHER: F[E]=64% F[K]=3% E213K Disease 8 0.897 SNPs&GO M214I Disease 3 0.649 PhD-SNP: F[M]=55% F[I]=2% Nali=534 M214I Neutral 3 0.337 PANTHER: F[M]=53% F[I]=5% M214I Disease 9 0.934 SNPs&GO R215G Disease 2 0.614 PhD-SNP: F[R]=31% F[G]=2% Nali=533 R215G Disease 1 0.536 PANTHER: F[R]=44% F[G]=1% R215G Disease 9 0.936 SNPs&GO R215L Disease 3 0.668 PhD-SNP: F[R]=31% F[L]=2% Nali=533 R215L Neutral 0 0.479 PANTHER: F[R]=44% F[L]=2% R215L Disease 9 0.938 SNPs&GO E217K Neutral 4 0.320 PhD-SNP: F[E]=33% F[K]=19% Nali=541 E217K Neutral 0 0.493 PANTHER: F[E]=64% F[K]=3% E217K Disease 8 0.908 SNPs&GO C218G Disease 8 0.890 PhD-SNP: F[C]=98% F[G]=0% Nali=550 C218G Disease 10 0.981 PANTHER: F[C]=97% F[G]=0% C218G Disease 10 0.980 SNPs&GO C218Y Disease 8 0.923 PhD-SNP: F[C]=98% F[Y]=0% Nali=550 C218Y Disease 10 0.995 PANTHER: F[C]=97% F[Y]=0% C218Y Disease 10 0.979 SNPs&GO H221Y Disease 7 0.846 PhD-SNP: F[H]=96% F[Y]=0% Nali=562 H221Y Disease 10 0.994 PANTHER: F[H]=98% F[Y]=0% H221Y Disease 10 0.976 SNPs&GO G222R Disease 5 0.749 PhD-SNP: F[G]=98% F[R]=0% Nali=566 G222R Disease 10 0.996 PANTHER: F[G]=98% F[R]=0% G222R Disease 9 0.935 SNPs&GO G225S Disease 5 0.761 PhD-SNP: F[G]=96% F[S]=0% Nali=644 G225S Disease 10 0.988 PANTHER: F[G]=98% F[S]=0% G225S Disease 9 0.934 SNPs&GO S226L Disease 5 0.759 PhD-SNP: F[S]=93% F[L]=0% Nali=696 S226L Disease 10 0.983 PANTHER: F[S]=92% F[L]=0% S226L Disease 9 0.936 SNPs&GO C227G Disease 8 0.894 PhD-SNP: F[C]=100% F[G]=0% Nali=732 C227G Disease 10 0.991 PANTHER: F[C]=98% F[G]=0% C227G Disease 10 0.976 SNPs&GO C227Y Disease 9 0.929 PhD-SNP: F[C]=100% F[Y]=0% Nali=732 C227Y Disease 10 0.998 PANTHER: F[C]=98% F[Y]=0% C227Y Disease 9 0.974 SNPs&GO V229A Neutral 1 0.451 PhD-SNP: F[V]=42% F[A]=1% Nali=744 V229A Neutral 3 0.353 PANTHER: F[V]=35% F[A]=3% V229A Disease 7 0.843 SNPs&GO R230H Neutral 0 0.490 PhD-SNP: F[R]=21% F[H]=0% Nali=744 R230H Neutral 1 0.468 PANTHER: F[R]=36% F[H]=2% R230H Disease 7 0.860 SNPs&GO T231R Disease 5 0.744 PhD-SNP: F[T]=92% F[R]=0% Nali=757 T231R Disease 10 0.979 PANTHER: F[T]=92% F[R]=0% T231R Disease 9 0.955 SNPs&GO M234L Neutral 5 0.249 PhD-SNP: F[M]=32% F[L]=12% Nali=768 M234L Neutral 6 0.214 PANTHER: F[M]=53% F[L]=11% M234L Disease 3 0.655 SNPs&GO R235L Disease 4 0.675 PhD-SNP: F[R]=30% F[L]=0% Nali=777 R235L Disease 3 0.638 PANTHER: F[R]=67% F[L]=1% R235L Disease 9 0.963 SNPs&GO R235Q Neutral 6 0.206 PhD-SNP: F[R]=30% F[Q]=21% Nali=777 R235Q Disease 1 0.551 PANTHER: F[R]=67% F[Q]=2% R235Q Disease 7 0.851 SNPs&GO R235W Disease 4 0.711 PhD-SNP: F[R]=30% F[W]=0% Nali=777 R235W Disease 8 0.901 PANTHER: F[R]=67% F[W]=0% R235W Disease 9 0.963 SNPs&GO T238A Neutral 4 0.282 PhD-SNP: F[T]=6% F[A]=2% Nali=824 T238A Neutral 8 0.113 PANTHER: F[T]=14% F[A]=7% T238A Disease 0 0.506 SNPs&GO L239P Disease 8 0.903 PhD-SNP: F[L]=6% F[P]=0% Nali=831 L239P Disease 3 0.632 PANTHER: F[L]=23% F[P]=0% L239P Disease 10 0.980 SNPs&GO R240C Disease 7 0.864 PhD-SNP: F[R]=78% F[C]=0% Nali=831 R240C Disease 10 0.990 PANTHER: F[R]=94% F[C]=0% R240C Disease 10 0.976 SNPs&GO R240H Disease 4 0.714 PhD-SNP: F[R]=78% F[H]=5% Nali=831 R240H Disease 10 0.980 PANTHER: F[R]=94% F[H]=0% R240H Disease 9 0.959 SNPs&GO A241S Neutral 7 0.137 PhD-SNP: F[A]=8% F[S]=11% Nali=833 A241S Neutral 8 0.100 PANTHER: F[A]=13% F[S]=8% A241S Neutral 4 0.279 SNPs&GO A241T Neutral 7 0.127 PhD-SNP: F[A]=8% F[T]=5% Nali=833 A241T Neutral 8 0.090 PANTHER: F[A]=13% F[T]=9% A241T Neutral 6 0.225 SNPs&GO V242A Disease 4 0.710 PhD-SNP: F[V]=55% F[A]=1% Nali=837 V242A Neutral 2 0.406 PANTHER: F[V]=42% F[A]=3% V242A Disease 8 0.912 SNPs&GO V242M Disease 4 0.680 PhD-SNP: F[V]=55% F[M]=1% Nali=837 V242M Neutral 1 0.472 PANTHER: F[V]=42% F[M]=2% V242M Disease 8 0.888 SNPs&GO G243S Disease 6 0.792 PhD-SNP: F[G]=88% F[S]=3% Nali=835 G243S Disease 9 0.968 PANTHER: F[G]=96% F[S]=0% G243S Disease 9 0.942 SNPs&GO D244N Disease 0 0.509 PhD-SNP: F[D]=52% F[N]=10% Nali=831 D244N Disease 0 0.515 PANTHER: F[D]=68% F[N]=3% D244N Disease 9 0.925 SNPs&GO D244Y Disease 6 0.799 PhD-SNP: F[D]=52% F[Y]=3% Nali=831 D244Y Disease 7 0.825 PANTHER: F[D]=68% F[Y]=0% D244Y Disease 9 0.969 SNPs&GO R247C Disease 6 0.814 PhD-SNP: F[R]=12% F[C]=0% Nali=841 R247C Disease 4 0.692 PANTHER: F[R]=19% F[C]=0% R247C Disease 9 0.960 SNPs&GO D248H Disease 3 0.669 PhD-SNP: F[D]=44% F[H]=2% Nali=842 D248H Disease 1 0.573 PANTHER: F[D]=43% F[H]=1% D248H Disease 8 0.884 SNPs&GO D248N Disease 2 0.585 PhD-SNP: F[D]=44% F[N]=3% Nali=842 D248N Neutral 3 0.335 PANTHER: F[D]=43% F[N]=4% D248N Disease 7 0.841 SNPs&GO D248Y Disease 6 0.815 PhD-SNP: F[D]=44% F[Y]=0% Nali=842 D248Y Disease 4 0.701 PANTHER: F[D]=43% F[Y]=0% D248Y Disease 9 0.951 SNPs&GO R249G Disease 6 0.823 PhD-SNP: F[R]=48% F[G]=2% Nali=843 R249G Disease 3 0.653 PANTHER: F[R]=67% F[G]=1% R249G Disease 10 0.978 SNPs&GO R249H Disease 5 0.755 PhD-SNP: F[R]=48% F[H]=1% Nali=843 R249H Disease 4 0.711 PANTHER: F[R]=67% F[H]=1% R249H Disease 9 0.967 SNPs&GO R249L Disease 8 0.881 PhD-SNP: F[R]=48% F[L]=2% Nali=843 R249L Disease 3 0.638 PANTHER: F[R]=67% F[L]=1% R249L Disease 10 0.983 SNPs&GO D251N Disease 4 0.693 PhD-SNP: F[D]=59% F[N]=9% Nali=838 D251N Disease 0 0.515 PANTHER: F[D]=68% F[N]=3% D251N Disease 9 0.950 SNPs&GO G252A Disease 2 0.595 PhD-SNP: F[G]=51% F[A]=4% Nali=836 G252A Disease 1 0.556 PANTHER: F[G]=79% F[A]=3% G252A Disease 8 0.915 SNPs&GO G252C Disease 7 0.846 PhD-SNP: F[G]=51% F[C]=0% Nali=836 G252C Disease 7 0.849 PANTHER: F[G]=79% F[C]=0% G252C Disease 9 0.967 SNPs&GO G252D Disease 6 0.805 PhD-SNP: F[G]=51% F[D]=2% Nali=836 G252D Disease 4 0.717 PANTHER: F[G]=79% F[D]=1% G252D Disease 9 0.968 SNPs&GO G252R Disease 4 0.717 PhD-SNP: F[G]=51% F[R]=4% Nali=836 G252R Disease 6 0.780 PANTHER: F[G]=79% F[R]=0% G252R Disease 9 0.941 SNPs&GO G252S Neutral 1 0.466 PhD-SNP: F[G]=51% F[S]=14% Nali=836 G252S Disease 2 0.598 PANTHER: F[G]=79% F[S]=2% G252S Disease 8 0.890 SNPs&GO A253S Disease 5 0.747 PhD-SNP: F[A]=92% F[S]=5% Nali=838 A253S Disease 8 0.912 PANTHER: F[A]=92% F[S]=1% A253S Disease 9 0.936 SNPs&GO A253T Disease 6 0.778 PhD-SNP: F[A]=92% F[T]=1% Nali=838 A253T Disease 9 0.935 PANTHER: F[A]=92% F[T]=1% A253T Disease 9 0.947 SNPs&GO S254L Disease 1 0.568 PhD-SNP: F[S]=39% F[L]=5% Nali=832 S254L Disease 0 0.507 PANTHER: F[S]=45% F[L]=2% S254L Disease 8 0.907 SNPs&GO R255H Disease 3 0.640 PhD-SNP: F[R]=40% F[H]=3% Nali=829 R255H Disease 0 0.516 PANTHER: F[R]=44% F[H]=2% R255H Disease 9 0.944 SNPs&GO V256I Neutral 3 0.369 PhD-SNP: F[V]=77% F[I]=8% Nali=831 V256I Neutral 5 0.237 PANTHER: F[V]=58% F[I]=11% V256I Disease 5 0.743 SNPs&GO V256L Disease 3 0.652 PhD-SNP: F[V]=77% F[L]=2% Nali=831 V256L Neutral 4 0.315 PANTHER: F[V]=58% F[L]=7% V256L Disease 8 0.883 SNPs&GO G259C Disease 3 0.626 PhD-SNP: F[G]=13% F[C]=0% Nali=772 G259C Neutral 7 0.153 PANTHER: F[G]=12% F[C]=4% G259C Disease 3 0.637 SNPs&GO G259R Neutral 3 0.335 PhD-SNP: F[G]=13% F[R]=7% Nali=772 G259R Neutral 8 0.092 PANTHER: F[G]=12% F[R]=8% G259R Neutral 0 0.481 SNPs&GO G259S Neutral 8 0.118 PhD-SNP: F[G]=13% F[S]=25% Nali=772 G259S Neutral 9 0.073 PANTHER: F[G]=12% F[S]=13% G259S Neutral 4 0.289 SNPs&GO N260S Neutral 1 0.459 PhD-SNP: F[N]=53% F[S]=4% Nali=778 N260S Neutral 7 0.158 PANTHER: F[N]=26% F[S]=9% N260S Disease 4 0.700 SNPs&GO R261H Neutral 1 0.430 PhD-SNP: F[R]=26% F[H]=1% Nali=719 R261H Neutral 5 0.275 PANTHER: F[R]=15% F[H]=2% R261H Disease 5 0.738 SNPs&GO G262R Disease 2 0.596 PhD-SNP: F[G]=54% F[R]=3% Nali=714 G262R Neutral 6 0.181 PANTHER: F[G]=31% F[R]=8% G262R Disease 5 0.743 SNPs&GO G262S Disease 2 0.613 PhD-SNP: F[G]=54% F[S]=2% Nali=714 G262S Neutral 5 0.255 PANTHER: F[G]=31% F[S]=5% G262S Disease 7 0.844 SNPs&GO S263G Neutral 5 0.235 PhD-SNP: F[S]=25% F[G]=3% Nali=688 S263G Neutral 4 0.316 PANTHER: F[S]=22% F[G]=2% S263G Disease 1 0.543 SNPs&GO S263N Neutral 6 0.206 PhD-SNP: F[S]=25% F[N]=12% Nali=688 S263N Neutral 5 0.250 PANTHER: F[S]=22% F[N]=4% S263N Disease 2 0.620 SNPs&GO S263R Neutral 3 0.331 PhD-SNP: F[S]=25% F[R]=6% Nali=688 S263R Neutral 8 0.118 PANTHER: F[S]=22% F[R]=11% S263R Neutral 1 0.459 SNPs&GO N264H Neutral 8 0.116 PhD-SNP: F[N]=18% F[H]=13% Nali=704 N264H Neutral 1 0.435 PANTHER: F[N]=29% F[H]=2% N264H Disease 1 0.539 SNPs&GO R265C Disease 8 0.876 PhD-SNP: F[R]=53% F[C]=0% Nali=653 R265C Disease 4 0.722 PANTHER: F[R]=36% F[C]=0% R265C Disease 9 0.969 SNPs&GO R265L Disease 8 0.879 PhD-SNP: F[R]=53% F[L]=2% Nali=653 R265L Neutral 3 0.356 PANTHER: F[R]=36% F[L]=2% R265L Disease 9 0.955 SNPs&GO R265P Disease 8 0.915 PhD-SNP: F[R]=53% F[P]=2% Nali=653 R265P Disease 0 0.501 PANTHER: F[R]=36% F[P]=1% R265P Disease 10 0.979 SNPs&GO R265S Disease 5 0.725 PhD-SNP: F[R]=53% F[S]=8% Nali=653 R265S Neutral 4 0.296 PANTHER: F[R]=36% F[S]=3% R265S Disease 9 0.926 SNPs&GO A266D Disease 2 0.578 PhD-SNP: F[A]=20% F[D]=0% Nali=619 A266D Neutral 6 0.214 PANTHER: F[A]=19% F[D]=3% A266D Disease 5 0.770 SNPs&GO A266S Neutral 6 0.182 PhD-SNP: F[A]=20% F[S]=8% Nali=619 A266S Neutral 7 0.150 PANTHER: F[A]=19% F[S]=6% A266S Neutral 1 0.457 SNPs&GO S267L Neutral 3 0.357 PhD-SNP: F[S]=23% F[L]=2% Nali=605 S267L Neutral 5 0.272 PANTHER: F[S]=23% F[L]=3% S267L Disease 3 0.663 SNPs&GO R268L Disease 5 0.747 PhD-SNP: F[R]=43% F[L]=2% Nali=601 R268L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R268L Disease 6 0.791 SNPs&GO R268P Disease 7 0.865 PhD-SNP: F[R]=43% F[P]=1% Nali=601 R268P Unclassified NA NA PANTHER: F[R]=NA F[P]=NA R268P Disease 8 0.885 SNPs&GO R268W Disease 5 0.774 PhD-SNP: F[R]=43% F[W]=0% Nali=601 R268W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R268W Disease 7 0.849 SNPs&GO E270K Neutral 8 0.121 PhD-SNP: F[E]=6% F[K]=8% Nali=600 E270K Neutral 8 0.083 PANTHER: F[E]=12% F[K]=8% E270K Neutral 3 0.347 SNPs&GO L271M Neutral 8 0.114 PhD-SNP: F[L]=17% F[M]=2% Nali=591 L271M Neutral 6 0.200 PANTHER: F[L]=9% F[M]=2% L271M Neutral 4 0.295 SNPs&GO L272M Neutral 7 0.155 PhD-SNP: F[L]=17% F[M]=2% Nali=615 L272M Neutral 6 0.201 PANTHER: F[L]=10% F[M]=2% L272M Neutral 3 0.346 SNPs&GO R273L Disease 3 0.661 PhD-SNP: F[R]=29% F[L]=1% Nali=714 R273L Neutral 7 0.135 PANTHER: F[R]=13% F[L]=5% R273L Disease 5 0.765 SNPs&GO R273S Disease 0 0.517 PhD-SNP: F[R]=29% F[S]=3% Nali=714 R273S Neutral 7 0.136 PANTHER: F[R]=13% F[S]=5% R273S Disease 4 0.692 SNPs&GO L274P Disease 4 0.725 PhD-SNP: F[L]=67% F[P]=2% Nali=767 L274P Disease 6 0.812 PANTHER: F[L]=66% F[P]=0% L274P Disease 9 0.960 SNPs&GO E275G Neutral 7 0.167 PhD-SNP: F[E]=8% F[G]=2% Nali=756 E275G Neutral 3 0.350 PANTHER: F[E]=29% F[G]=3% E275G Disease 4 0.701 SNPs&GO E275V Neutral 6 0.176 PhD-SNP: F[E]=8% F[V]=9% Nali=756 E275V Neutral 1 0.435 PANTHER: F[E]=29% F[V]=2% E275V Disease 5 0.743 SNPs&GO P276R Neutral 1 0.445 PhD-SNP: F[P]=65% F[R]=2% Nali=751 P276R Disease 5 0.758 PANTHER: F[P]=78% F[R]=1% P276R Disease 9 0.941 SNPs&GO P279L Neutral 4 0.290 PhD-SNP: F[P]=51% F[L]=4% Nali=771 P279L Disease 5 0.743 PANTHER: F[P]=78% F[L]=1% P279L Disease 9 0.936 SNPs&GO P279Q Neutral 3 0.363 PhD-SNP: F[P]=51% F[Q]=3% Nali=771 P279Q Disease 6 0.792 PANTHER: F[P]=78% F[Q]=0% P279Q Disease 9 0.951 SNPs&GO P279R Neutral 3 0.330 PhD-SNP: F[P]=51% F[R]=5% Nali=771 P279R Disease 5 0.758 PANTHER: F[P]=78% F[R]=1% P279R Disease 9 0.936 SNPs&GO P279S Neutral 6 0.216 PhD-SNP: F[P]=51% F[S]=9% Nali=771 P279S Disease 3 0.629 PANTHER: F[P]=78% F[S]=2% P279S Disease 8 0.890 SNPs&GO A280G Neutral 8 0.083 PhD-SNP: F[A]=6% F[G]=4% Nali=783 A280G Neutral 4 0.278 PANTHER: F[A]=21% F[G]=3% A280G Disease 0 0.520 SNPs&GO A280P Neutral 3 0.351 PhD-SNP: F[A]=6% F[P]=1% Nali=783 A280P Neutral 2 0.381 PANTHER: F[A]=21% F[P]=1% A280P Disease 7 0.827 SNPs&GO A280T Neutral 9 0.075 PhD-SNP: F[A]=6% F[T]=6% Nali=783 A280T Neutral 7 0.136 PANTHER: F[A]=21% F[T]=8% A280T Neutral 3 0.347 SNPs&GO A280V Neutral 8 0.113 PhD-SNP: F[A]=6% F[V]=2% Nali=783 A280V Neutral 5 0.271 PANTHER: F[A]=21% F[V]=3% A280V Disease 1 0.565 SNPs&GO H281Y Neutral 5 0.245 PhD-SNP: F[H]=42% F[Y]=8% Nali=784 H281Y Disease 2 0.589 PANTHER: F[H]=67% F[Y]=2% H281Y Disease 8 0.903 SNPs&GO P283L Neutral 1 0.438 PhD-SNP: F[P]=43% F[L]=2% Nali=806 P283L Neutral 8 0.111 PANTHER: F[P]=33% F[L]=18% P283L Disease 2 0.612 SNPs&GO P283Q Neutral 1 0.438 PhD-SNP: F[P]=43% F[Q]=3% Nali=806 P283Q Neutral 1 0.448 PANTHER: F[P]=33% F[Q]=2% P283Q Disease 7 0.870 SNPs&GO P284S Disease 1 0.562 PhD-SNP: F[P]=69% F[S]=3% Nali=819 P284S Disease 3 0.629 PANTHER: F[P]=78% F[S]=2% P284S Disease 9 0.937 SNPs&GO S285C Neutral 3 0.334 PhD-SNP: F[S]=14% F[C]=0% Nali=811 S285C Disease 2 0.618 PANTHER: F[S]=38% F[C]=1% S285C Disease 8 0.877 SNPs&GO S285Y Neutral 2 0.381 PhD-SNP: F[S]=14% F[Y]=0% Nali=811 S285Y Disease 4 0.713 PANTHER: F[S]=38% F[Y]=0% S285Y Disease 9 0.947 SNPs&GO P286H Neutral 7 0.142 PhD-SNP: F[P]=12% F[H]=1% Nali=807 P286H Neutral 2 0.420 PANTHER: F[P]=15% F[H]=1% P286H Disease 2 0.579 SNPs&GO P286L Neutral 7 0.129 PhD-SNP: F[P]=12% F[L]=2% Nali=807 P286L Neutral 4 0.287 PANTHER: F[P]=15% F[L]=2% P286L Disease 1 0.536 SNPs&GO P286R Neutral 7 0.145 PhD-SNP: F[P]=12% F[R]=8% Nali=807 P286R Neutral 4 0.277 PANTHER: F[P]=15% F[R]=2% P286R Disease 1 0.572 SNPs&GO P286S Neutral 8 0.081 PhD-SNP: F[P]=12% F[S]=11% Nali=807 P286S Neutral 7 0.142 PANTHER: F[P]=15% F[S]=38% P286S Neutral 7 0.152 SNPs&GO P286T Neutral 8 0.081 PhD-SNP: F[P]=12% F[T]=8% Nali=807 P286T Neutral 7 0.166 PANTHER: F[P]=15% F[T]=4% P286T Neutral 5 0.274 SNPs&GO H287D Neutral 4 0.299 PhD-SNP: F[H]=4% F[D]=4% Nali=814 H287D Neutral 7 0.134 PANTHER: F[H]=9% F[D]=4% H287D Disease 2 0.611 SNPs&GO H287N Neutral 6 0.220 PhD-SNP: F[H]=4% F[N]=7% Nali=814 H287N Neutral 8 0.123 PANTHER: F[H]=9% F[N]=4% H287N Disease 1 0.528 SNPs&GO H287Y Neutral 6 0.218 PhD-SNP: F[H]=4% F[Y]=2% Nali=814 H287Y Neutral 4 0.282 PANTHER: F[H]=9% F[Y]=1% H287Y Disease 3 0.642 SNPs&GO D288N Disease 3 0.652 PhD-SNP: F[D]=76% F[N]=1% Nali=841 D288N Disease 0 0.515 PANTHER: F[D]=68% F[N]=3% D288N Disease 9 0.958 SNPs&GO V290I Neutral 5 0.265 PhD-SNP: F[V]=80% F[I]=10% Nali=853 V290I Neutral 5 0.237 PANTHER: F[V]=58% F[I]=11% V290I Disease 6 0.789 SNPs&GO Y291F Disease 1 0.528 PhD-SNP: F[Y]=86% F[F]=9% Nali=853 Y291F Neutral 4 0.321 PANTHER: F[Y]=67% F[F]=8% Y291F Disease 8 0.890 SNPs&GO F292L Neutral 8 0.116 PhD-SNP: F[F]=14% F[L]=51% Nali=855 F292L Neutral 9 0.072 PANTHER: F[F]=33% F[L]=30% F292L Neutral 2 0.411 SNPs&GO F292V Disease 0 0.506 PhD-SNP: F[F]=14% F[V]=5% Nali=855 F292V Neutral 5 0.250 PANTHER: F[F]=33% F[V]=5% F292V Disease 7 0.825 SNPs&GO E293D Neutral 3 0.364 PhD-SNP: F[E]=64% F[D]=16% Nali=854 E293D Neutral 2 0.381 PANTHER: F[E]=64% F[D]=5% E293D Disease 7 0.843 SNPs&GO F298C Disease 9 0.934 PhD-SNP: F[F]=63% F[C]=0% Nali=855 F298C Disease 7 0.844 PANTHER: F[F]=65% F[C]=0% F298C Disease 10 0.982 SNPs&GO C299R Disease 9 0.943 PhD-SNP: F[C]=100% F[R]=0% Nali=855 C299R Disease 10 0.996 PANTHER: F[C]=98% F[R]=0% C299R Disease 9 0.974 SNPs&GO T300A Neutral 5 0.273 PhD-SNP: F[T]=4% F[A]=2% Nali=838 T300A Neutral 8 0.119 PANTHER: F[T]=12% F[A]=6% T300A Disease 2 0.587 SNPs&GO T300K Disease 1 0.549 PhD-SNP: F[T]=4% F[K]=3% Nali=838 T300K Neutral 8 0.112 PANTHER: F[T]=12% F[K]=6% T300K Disease 5 0.740 SNPs&GO T300M Neutral 3 0.353 PhD-SNP: F[T]=4% F[M]=2% Nali=838 T300M Neutral 3 0.346 PANTHER: F[T]=12% F[M]=1% T300M Disease 5 0.751 SNPs&GO Y301N Disease 0 0.510 PhD-SNP: F[Y]=2% F[N]=1% Nali=834 Y301N Neutral 6 0.178 PANTHER: F[Y]=14% F[N]=4% Y301N Disease 6 0.789 SNPs&GO S302R Disease 4 0.700 PhD-SNP: F[S]=7% F[R]=0% Nali=828 S302R Neutral 3 0.344 PANTHER: F[S]=28% F[R]=2% S302R Disease 9 0.933 SNPs&GO G303E Neutral 1 0.471 PhD-SNP: F[G]=3% F[E]=6% Nali=822 G303E Neutral 8 0.090 PANTHER: F[G]=15% F[E]=11% G303E Disease 3 0.670 SNPs&GO R304C Disease 7 0.837 PhD-SNP: F[R]=24% F[C]=0% Nali=820 R304C Disease 6 0.782 PANTHER: F[R]=32% F[C]=0% R304C Disease 10 0.976 SNPs&GO L305P Disease 7 0.865 PhD-SNP: F[L]=47% F[P]=0% Nali=799 L305P Neutral 4 0.310 PANTHER: F[L]=14% F[P]=1% L305P Disease 9 0.938 SNPs&GO L305V Neutral 2 0.403 PhD-SNP: F[L]=47% F[V]=6% Nali=799 L305V Neutral 7 0.139 PANTHER: F[L]=14% F[V]=5% L305V Disease 1 0.561 SNPs&GO A308G Neutral 3 0.346 PhD-SNP: F[A]=7% F[G]=0% Nali=833 A308G Neutral 6 0.179 PANTHER: F[A]=11% F[G]=2% A308G Disease 2 0.576 SNPs&GO A308T Neutral 5 0.243 PhD-SNP: F[A]=7% F[T]=2% Nali=833 A308T Neutral 8 0.112 PANTHER: F[A]=11% F[T]=5% A308T Neutral 0 0.482 SNPs&GO A308V Neutral 5 0.263 PhD-SNP: F[A]=7% F[V]=3% Nali=833 A308V Neutral 7 0.126 PANTHER: F[A]=11% F[V]=4% A308V Neutral 2 0.409 SNPs&GO T310M Disease 5 0.740 PhD-SNP: F[T]=96% F[M]=0% Nali=846 T310M Disease 10 0.986 PANTHER: F[T]=91% F[M]=0% T310M Disease 9 0.955 SNPs&GO A311V Neutral 6 0.183 PhD-SNP: F[A]=9% F[V]=5% Nali=846 A311V Neutral 7 0.158 PANTHER: F[A]=13% F[V]=4% A311V Neutral 2 0.388 SNPs&GO G312A Disease 1 0.570 PhD-SNP: F[G]=90% F[A]=1% Nali=846 G312A Disease 0 0.508 PANTHER: F[G]=76% F[A]=3% G312A Disease 8 0.911 SNPs&GO R313S Disease 7 0.857 PhD-SNP: F[R]=100% F[S]=0% Nali=846 R313S Disease 10 0.994 PANTHER: F[R]=97% F[S]=0% R313S Disease 9 0.971 SNPs&GO A314S Neutral 5 0.250 PhD-SNP: F[A]=8% F[S]=1% Nali=842 A314S Neutral 7 0.125 PANTHER: F[A]=14% F[S]=6% A314S Disease 2 0.575 SNPs&GO A314V Neutral 7 0.143 PhD-SNP: F[A]=8% F[V]=11% Nali=842 A314V Neutral 7 0.135 PANTHER: F[A]=14% F[V]=5% A314V Neutral 2 0.378 SNPs&GO C315F Disease 8 0.889 PhD-SNP: F[C]=100% F[F]=0% Nali=841 C315F Disease 10 0.997 PANTHER: F[C]=98% F[F]=0% C315F Disease 9 0.972 SNPs&GO C315G Disease 6 0.794 PhD-SNP: F[C]=100% F[G]=0% Nali=841 C315G Disease 10 0.990 PANTHER: F[C]=98% F[G]=0% C315G Disease 9 0.962 SNPs&GO S317I Neutral 4 0.288 PhD-SNP: F[S]=5% F[I]=2% Nali=837 S317I Neutral 1 0.473 PANTHER: F[S]=24% F[I]=1% S317I Disease 7 0.841 SNPs&GO S318L Disease 1 0.551 PhD-SNP: F[S]=15% F[L]=0% Nali=836 S318L Neutral 4 0.298 PANTHER: F[S]=21% F[L]=2% S318L Disease 7 0.830 SNPs&GO S318W Disease 4 0.698 PhD-SNP: F[S]=15% F[W]=0% Nali=836 S318W Disease 5 0.760 PANTHER: F[S]=21% F[W]=0% S318W Disease 9 0.957 SNPs&GO P320A Neutral 8 0.077 PhD-SNP: F[P]=9% F[A]=2% Nali=791 P320A Neutral 7 0.142 PANTHER: F[P]=14% F[A]=5% P320A Neutral 5 0.250 SNPs&GO A321T Neutral 5 0.240 PhD-SNP: F[A]=7% F[T]=2% Nali=787 A321T Neutral 6 0.215 PANTHER: F[A]=25% F[T]=5% A321T Disease 2 0.620 SNPs&GO D323E Disease 1 0.568 PhD-SNP: F[D]=75% F[E]=6% Nali=811 D323E Neutral 3 0.348 PANTHER: F[D]=66% F[E]=6% D323E Disease 8 0.891 SNPs&GO G324A Disease 2 0.583 PhD-SNP: F[G]=70% F[A]=0% Nali=836 G324A Disease 0 0.508 PANTHER: F[G]=76% F[A]=3% G324A Disease 8 0.915 SNPs&GO G324D Disease 5 0.771 PhD-SNP: F[G]=70% F[D]=1% Nali=836 G324D Disease 3 0.675 PANTHER: F[G]=76% F[D]=1% G324D Disease 9 0.960 SNPs&GO G324R Disease 4 0.693 PhD-SNP: F[G]=70% F[R]=1% Nali=836 G324R Disease 5 0.744 PANTHER: F[G]=76% F[R]=1% G324R Disease 9 0.940 SNPs&GO L327R Disease 2 0.620 PhD-SNP: F[L]=61% F[R]=6% Nali=839 L327R Disease 4 0.706 PANTHER: F[L]=63% F[R]=1% L327R Disease 9 0.954 SNPs&GO L328F Disease 2 0.614 PhD-SNP: F[L]=41% F[F]=0% Nali=837 L328F Neutral 3 0.355 PANTHER: F[L]=45% F[F]=4% L328F Disease 7 0.849 SNPs&GO L328R Disease 6 0.820 PhD-SNP: F[L]=41% F[R]=0% Nali=837 L328R Disease 3 0.658 PANTHER: F[L]=45% F[R]=1% L328R Disease 9 0.974 SNPs&GO C330R Disease 8 0.902 PhD-SNP: F[C]=98% F[R]=0% Nali=825 C330R Disease 10 0.996 PANTHER: F[C]=98% F[R]=0% C330R Disease 9 0.974 SNPs&GO C330Y Disease 9 0.927 PhD-SNP: F[C]=98% F[Y]=1% Nali=825 C330Y Disease 10 0.998 PANTHER: F[C]=98% F[Y]=0% C330Y Disease 10 0.977 SNPs&GO G331R Disease 4 0.723 PhD-SNP: F[G]=90% F[R]=0% Nali=821 G331R Disease 10 0.985 PANTHER: F[G]=96% F[R]=0% G331R Disease 8 0.915 SNPs&GO G331S Disease 4 0.681 PhD-SNP: F[G]=90% F[S]=2% Nali=821 G331S Disease 9 0.967 PANTHER: F[G]=96% F[S]=0% G331S Disease 8 0.925 SNPs&GO H334Y Neutral 8 0.083 PhD-SNP: F[H]=20% F[Y]=61% Nali=814 H334Y Neutral 7 0.160 PANTHER: F[H]=12% F[Y]=42% H334Y Neutral 8 0.089 SNPs&GO R335G Disease 1 0.562 PhD-SNP: F[R]=24% F[G]=0% Nali=813 R335G Neutral 0 0.492 PANTHER: F[R]=38% F[G]=1% R335G Disease 8 0.897 SNPs&GO R335L Disease 1 0.542 PhD-SNP: F[R]=24% F[L]=3% Nali=813 R335L Neutral 1 0.432 PANTHER: F[R]=38% F[L]=2% R335L Disease 7 0.870 SNPs&GO T336M Neutral 0 0.480 PhD-SNP: F[T]=65% F[M]=0% Nali=814 T336M Neutral 1 0.430 PANTHER: F[T]=24% F[M]=1% T336M Disease 3 0.662 SNPs&GO T336P Disease 3 0.643 PhD-SNP: F[T]=65% F[P]=1% Nali=814 T336P Neutral 2 0.392 PANTHER: F[T]=24% F[P]=1% T336P Disease 5 0.740 SNPs&GO T338M Neutral 8 0.094 PhD-SNP: F[T]=20% F[M]=2% Nali=790 T338M Neutral 7 0.140 PANTHER: F[T]=12% F[M]=4% T338M Neutral 7 0.126 SNPs&GO T338R Neutral 8 0.075 PhD-SNP: F[T]=20% F[R]=10% Nali=790 T338R Neutral 7 0.134 PANTHER: F[T]=12% F[R]=4% T338R Neutral 7 0.169 SNPs&GO R340C Disease 3 0.659 PhD-SNP: F[R]=12% F[C]=0% Nali=774 R340C Neutral 2 0.422 PANTHER: F[R]=10% F[C]=0% R340C Disease 6 0.777 SNPs&GO R340P Disease 5 0.736 PhD-SNP: F[R]=12% F[P]=0% Nali=774 R340P Neutral 6 0.219 PANTHER: F[R]=10% F[P]=2% R340P Disease 6 0.813 SNPs&GO R340S Neutral 2 0.383 PhD-SNP: F[R]=12% F[S]=2% Nali=774 R340S Neutral 9 0.070 PANTHER: F[R]=10% F[S]=8% R340S Neutral 1 0.429 SNPs&GO V341A Neutral 2 0.400 PhD-SNP: F[V]=47% F[A]=1% Nali=776 V341A Neutral 3 0.358 PANTHER: F[V]=44% F[A]=3% V341A Disease 5 0.756 SNPs&GO T342S Neutral 7 0.135 PhD-SNP: F[T]=17% F[S]=6% Nali=772 T342S Neutral 5 0.234 PANTHER: F[T]=26% F[S]=4% T342S Neutral 2 0.391 SNPs&GO E343D Neutral 2 0.418 PhD-SNP: F[E]=66% F[D]=2% Nali=762 E343D Neutral 3 0.342 PANTHER: F[E]=61% F[D]=5% E343D Disease 4 0.716 SNPs&GO E343Q Neutral 0 0.492 PhD-SNP: F[E]=66% F[Q]=2% Nali=762 E343Q Disease 0 0.504 PANTHER: F[E]=61% F[Q]=2% E343Q Disease 6 0.780 SNPs&GO R344H Disease 3 0.654 PhD-SNP: F[R]=58% F[H]=0% Nali=761 R344H Disease 3 0.672 PANTHER: F[R]=64% F[H]=1% R344H Disease 8 0.902 SNPs&GO R344S Disease 2 0.619 PhD-SNP: F[R]=58% F[S]=8% Nali=761 R344S Disease 1 0.551 PANTHER: F[R]=64% F[S]=2% R344S Disease 8 0.918 SNPs&GO C345G Disease 8 0.883 PhD-SNP: F[C]=100% F[G]=0% Nali=763 C345G Disease 10 0.990 PANTHER: F[C]=98% F[G]=0% C345G Disease 9 0.970 SNPs&GO C345R Disease 7 0.845 PhD-SNP: F[C]=100% F[R]=0% Nali=763 C345R Disease 10 0.996 PANTHER: F[C]=98% F[R]=0% C345R Disease 9 0.949 SNPs&GO N346T Neutral 3 0.341 PhD-SNP: F[N]=35% F[T]=0% Nali=712 N346T Neutral 8 0.110 PANTHER: F[N]=10% F[T]=5% N346T Neutral 2 0.398 SNPs&GO T348A Neutral 6 0.185 PhD-SNP: F[T]=21% F[A]=0% Nali=638 T348A Neutral 4 0.317 PANTHER: F[T]=57% F[A]=6% T348A Disease 3 0.634 SNPs&GO T348I Neutral 6 0.203 PhD-SNP: F[T]=21% F[I]=3% Nali=638 T348I Disease 0 0.519 PANTHER: F[T]=57% F[I]=2% T348I Disease 4 0.707 SNPs&GO T348P Neutral 0 0.490 PhD-SNP: F[T]=21% F[P]=0% Nali=638 T348P Disease 2 0.619 PANTHER: F[T]=57% F[P]=1% T348P Disease 7 0.871 SNPs&GO H350Y Disease 4 0.701 PhD-SNP: F[H]=55% F[Y]=1% Nali=540 H350Y Neutral 2 0.423 PANTHER: F[H]=32% F[Y]=2% H350Y Disease 8 0.894 SNPs&GO W351C Disease 8 0.907 PhD-SNP: F[W]=94% F[C]=0% Nali=529 W351C Disease 10 0.995 PANTHER: F[W]=97% F[C]=0% W351C Disease 9 0.953 SNPs&GO W351G Disease 8 0.887 PhD-SNP: F[W]=94% F[G]=0% Nali=529 W351G Disease 10 0.984 PANTHER: F[W]=97% F[G]=0% W351G Disease 9 0.962 SNPs&GO C352F Disease 8 0.899 PhD-SNP: F[C]=98% F[F]=0% Nali=527 C352F Disease 10 0.997 PANTHER: F[C]=98% F[F]=0% C352F Disease 9 0.971 SNPs&GO H354L Neutral 6 0.178 PhD-SNP: F[H]=4% F[L]=0% Nali=508 H354L Neutral 3 0.328 PANTHER: F[H]=23% F[L]=2% H354L Disease 2 0.587 SNPs&GO H354R Neutral 8 0.093 PhD-SNP: F[H]=4% F[R]=3% Nali=508 H354R Neutral 6 0.220 PANTHER: F[H]=23% F[R]=4% H354R Neutral 1 0.460 SNPs&GO V355A Disease 3 0.672 PhD-SNP: F[V]=93% F[A]=0% Nali=503 V355A Disease 9 0.969 PANTHER: F[V]=92% F[A]=0% V355A Disease 9 0.942 SNPs&GO V355F Disease 8 0.881 PhD-SNP: F[V]=93% F[F]=0% Nali=503 V355F Disease 10 0.986 PANTHER: F[V]=92% F[F]=0% V355F Disease 10 0.975 SNPs&GO V355L Disease 2 0.621 PhD-SNP: F[V]=93% F[L]=4% Nali=503 V355L Disease 9 0.951 PANTHER: F[V]=92% F[L]=1% V355L Disease 9 0.935 SNPs&GO R358C Disease 1 0.544 PhD-SNP: F[R]=9% F[C]=0% Nali=479 R358C Disease 1 0.542 PANTHER: F[R]=15% F[C]=0% R358C Disease 6 0.777 SNPs&GO R358H Neutral 6 0.188 PhD-SNP: F[R]=9% F[H]=2% Nali=479 R358H Neutral 5 0.269 PANTHER: F[R]=15% F[H]=2% R358H Neutral 0 0.480 SNPs&GO N359D Neutral 9 0.067 PhD-SNP: F[N]=4% F[D]=6% Nali=478 N359D Neutral 5 0.257 PANTHER: F[N]=24% F[D]=3% N359D Neutral 3 0.368 SNPs&GO N359S Neutral 9 0.070 PhD-SNP: F[N]=4% F[S]=1% Nali=478 N359S Neutral 6 0.218 PANTHER: F[N]=24% F[S]=4% N359S Neutral 5 0.274 SNPs&GO C360Y Disease 8 0.913 PhD-SNP: F[C]=99% F[Y]=0% Nali=476 C360Y Disease 10 0.998 PANTHER: F[C]=98% F[Y]=0% C360Y Disease 9 0.968 SNPs&GO T361M Neutral 9 0.063 PhD-SNP: F[T]=20% F[M]=0% Nali=441 T361M Neutral 1 0.453 PANTHER: F[T]=25% F[M]=1% T361M Neutral 4 0.318 SNPs&GO T361R Neutral 9 0.033 PhD-SNP: F[T]=20% F[R]=19% Nali=441 T361R Neutral 8 0.080 PANTHER: F[T]=25% F[R]=18% T361R Neutral 8 0.108 SNPs&GO H362Q Neutral 9 0.052 PhD-SNP: F[H]=3% F[Q]=10% Nali=426 H362Q Neutral 8 0.095 PANTHER: F[H]=7% F[Q]=4% H362Q Neutral 7 0.170 SNPs&GO R364C Neutral 3 0.362 PhD-SNP: F[R]=10% F[C]=0% Nali=401 R364C Disease 4 0.685 PANTHER: F[R]=22% F[C]=0% R364C Disease 6 0.802 SNPs&GO R364G Neutral 5 0.240 PhD-SNP: F[R]=10% F[G]=0% Nali=401 R364G Neutral 3 0.348 PANTHER: F[R]=22% F[G]=2% R364G Disease 4 0.679 SNPs&GO R364H Neutral 7 0.127 PhD-SNP: F[R]=10% F[H]=0% Nali=401 R364H Neutral 4 0.324 PANTHER: F[R]=22% F[H]=2% R364H Neutral 0 0.491 SNPs&GO V365I Neutral 9 0.032 PhD-SNP: F[V]=7% F[I]=4% Nali=401 V365I Neutral 9 0.069 PANTHER: F[V]=29% F[I]=25% V365I Neutral 8 0.118 SNPs&GO H367Q Neutral 5 0.250 PhD-SNP: F[H]=44% F[Q]=1% Nali=401 H367Q Neutral 1 0.431 PANTHER: F[H]=36% F[Q]=2% H367Q Disease 6 0.800 SNPs&GO H367R Neutral 5 0.234 PhD-SNP: F[H]=44% F[R]=0% Nali=401 H367R Neutral 2 0.400 PANTHER: F[H]=36% F[R]=2% H367R Disease 6 0.800 SNPs&GO E368K Neutral 8 0.084 PhD-SNP: F[E]=3% F[K]=1% Nali=399 E368K Neutral 8 0.119 PANTHER: F[E]=18% F[K]=8% E368K Neutral 2 0.398 SNPs&GO C369F Disease 3 0.658 PhD-SNP: F[C]=100% F[F]=0% Nali=399 C369F Disease 10 0.997 PANTHER: F[C]=98% F[F]=0% C369F Disease 9 0.947 SNPs&GO L370V Neutral 9 0.027 PhD-SNP: F[L]=75% F[V]=20% Nali=83 L370V Neutral 4 0.296 PANTHER: F[L]=60% F[V]=6% L370V Neutral 1 0.448 SNPs&GO Mutation: WT+POS+NEW WT: Residue in wild-type protein POS: Residue position NEW: New residue after mutation Prediction: Neutral: Neutral variation Disease: Disease associated variation RI: Reliability Index Probability: Disease probability (if >0.5 mutation is predicted Disease) Method: SVM type and data PANTHER: Output of the PANTHER algorithm PhD-SNP: SVM input is the sequence and profile at the mutated position SNPs&GO: SVM input is all the input in PhD-SNP, PANTHER and GO term features F[X]: Frequency of residue X in the sequence profile Nali: Number of aligned sequences in the mutated site ********************************************************************************************** ** ** ** Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. (2009). Functional ** ** annotations improve the predictive score of human disease-related mutations in ** ** proteins. Human Mutation. 30:1237-1244. ** ** ** ** Capriotti E, Altman RB. (2011). Improving the prediction of disease-related vari- ** ** ants using protein three-dimensional structure. BMC Bioinformatics. 12 (Sup.4) S3. ** ** ** **********************************************************************************************