********************************************************************************************** ** ** ** SNPs&GO ** ** Predicting disease associated variation using GO terms ** ** ** ********************************************************************************************** Sequence File: DIP2C_HUMAN.seq Mutation Prediction RI Probability Method P12L Disease 6 0.812 PhD-SNP: F[P]=100% F[L]=0% Nali=22 P12L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P12L Neutral 2 0.379 SNPs&GO R16W Disease 7 0.858 PhD-SNP: F[R]=92% F[W]=0% Nali=23 R16W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R16W Disease 2 0.597 SNPs&GO Y47C Disease 6 0.784 PhD-SNP: F[Y]=91% F[C]=0% Nali=34 Y47C Unclassified NA NA PANTHER: F[Y]=NA F[C]=NA Y47C Neutral 2 0.405 SNPs&GO P49L Disease 5 0.734 PhD-SNP: F[P]=78% F[L]=0% Nali=36 P49L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P49L Neutral 4 0.294 SNPs&GO D55V Disease 3 0.657 PhD-SNP: F[D]=68% F[V]=0% Nali=39 D55V Unclassified NA NA PANTHER: F[D]=NA F[V]=NA D55V Neutral 4 0.278 SNPs&GO D55Y Disease 4 0.695 PhD-SNP: F[D]=68% F[Y]=0% Nali=39 D55Y Unclassified NA NA PANTHER: F[D]=NA F[Y]=NA D55Y Neutral 6 0.208 SNPs&GO R63W Disease 2 0.589 PhD-SNP: F[R]=68% F[W]=0% Nali=40 R63W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R63W Neutral 6 0.209 SNPs&GO P65L Neutral 1 0.462 PhD-SNP: F[P]=73% F[L]=0% Nali=40 P65L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P65L Neutral 7 0.136 SNPs&GO S69F Neutral 3 0.343 PhD-SNP: F[S]=52% F[F]=0% Nali=41 S69F Unclassified NA NA PANTHER: F[S]=NA F[F]=NA S69F Neutral 8 0.088 SNPs&GO S70F Neutral 3 0.340 PhD-SNP: F[S]=49% F[F]=0% Nali=42 S70F Unclassified NA NA PANTHER: F[S]=NA F[F]=NA S70F Neutral 8 0.078 SNPs&GO R73C Disease 3 0.631 PhD-SNP: F[R]=36% F[C]=0% Nali=43 R73C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R73C Neutral 5 0.236 SNPs&GO H75Y Neutral 2 0.396 PhD-SNP: F[H]=58% F[Y]=0% Nali=42 H75Y Unclassified NA NA PANTHER: F[H]=NA F[Y]=NA H75Y Neutral 8 0.098 SNPs&GO R76C Disease 2 0.619 PhD-SNP: F[R]=64% F[C]=0% Nali=43 R76C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R76C Neutral 5 0.236 SNPs&GO R76G Disease 2 0.583 PhD-SNP: F[R]=64% F[G]=0% Nali=43 R76G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R76G Neutral 5 0.268 SNPs&GO R78L Disease 5 0.764 PhD-SNP: F[R]=91% F[L]=2% Nali=44 R78L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R78L Neutral 2 0.412 SNPs&GO R78W Disease 6 0.776 PhD-SNP: F[R]=91% F[W]=0% Nali=44 R78W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R78W Disease 0 0.515 SNPs&GO G81W Neutral 1 0.453 PhD-SNP: F[G]=60% F[W]=0% Nali=44 G81W Unclassified NA NA PANTHER: F[G]=NA F[W]=NA G81W Neutral 8 0.111 SNPs&GO D84Y Disease 5 0.756 PhD-SNP: F[D]=83% F[Y]=0% Nali=45 D84Y Unclassified NA NA PANTHER: F[D]=NA F[Y]=NA D84Y Neutral 7 0.164 SNPs&GO R86C Disease 6 0.806 PhD-SNP: F[R]=100% F[C]=0% Nali=47 R86C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R86C Neutral 1 0.443 SNPs&GO R86H Disease 5 0.766 PhD-SNP: F[R]=100% F[H]=0% Nali=47 R86H Unclassified NA NA PANTHER: F[R]=NA F[H]=NA R86H Neutral 3 0.346 SNPs&GO R86L Disease 7 0.856 PhD-SNP: F[R]=100% F[L]=0% Nali=47 R86L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R86L Neutral 0 0.479 SNPs&GO Y87C Disease 5 0.750 PhD-SNP: F[Y]=79% F[C]=0% Nali=47 Y87C Unclassified NA NA PANTHER: F[Y]=NA F[C]=NA Y87C Neutral 5 0.234 SNPs&GO R88W Disease 7 0.840 PhD-SNP: F[R]=81% F[W]=0% Nali=47 R88W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R88W Neutral 0 0.475 SNPs&GO T93M Disease 4 0.697 PhD-SNP: F[T]=73% F[M]=0% Nali=48 T93M Unclassified NA NA PANTHER: F[T]=NA F[M]=NA T93M Neutral 4 0.279 SNPs&GO T93R Disease 6 0.800 PhD-SNP: F[T]=73% F[R]=0% Nali=48 T93R Unclassified NA NA PANTHER: F[T]=NA F[R]=NA T93R Neutral 1 0.439 SNPs&GO A95T Disease 7 0.842 PhD-SNP: F[A]=100% F[T]=0% Nali=48 A95T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A95T Neutral 0 0.495 SNPs&GO L100V Disease 5 0.732 PhD-SNP: F[L]=100% F[V]=0% Nali=48 L100V Unclassified NA NA PANTHER: F[L]=NA F[V]=NA L100V Disease 1 0.557 SNPs&GO K107N Disease 3 0.662 PhD-SNP: F[K]=94% F[N]=4% Nali=48 K107N Unclassified NA NA PANTHER: F[K]=NA F[N]=NA K107N Neutral 4 0.276 SNPs&GO P111H Disease 5 0.746 PhD-SNP: F[P]=98% F[H]=0% Nali=50 P111H Unclassified NA NA PANTHER: F[P]=NA F[H]=NA P111H Neutral 5 0.255 SNPs&GO P113L Disease 4 0.718 PhD-SNP: F[P]=100% F[L]=0% Nali=50 P113L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P113L Neutral 3 0.338 SNPs&GO R116C Disease 5 0.766 PhD-SNP: F[R]=100% F[C]=0% Nali=50 R116C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R116C Neutral 1 0.446 SNPs&GO S118F Disease 5 0.745 PhD-SNP: F[S]=100% F[F]=0% Nali=49 S118F Unclassified NA NA PANTHER: F[S]=NA F[F]=NA S118F Neutral 3 0.356 SNPs&GO S118Y Disease 5 0.741 PhD-SNP: F[S]=100% F[Y]=0% Nali=49 S118Y Unclassified NA NA PANTHER: F[S]=NA F[Y]=NA S118Y Neutral 4 0.286 SNPs&GO P130S Disease 1 0.544 PhD-SNP: F[P]=85% F[S]=2% Nali=47 P130S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P130S Neutral 7 0.132 SNPs&GO P131A Neutral 5 0.270 PhD-SNP: F[P]=82% F[A]=0% Nali=48 P131A Unclassified NA NA PANTHER: F[P]=NA F[A]=NA P131A Neutral 9 0.044 SNPs&GO T133I Neutral 3 0.355 PhD-SNP: F[T]=71% F[I]=0% Nali=48 T133I Unclassified NA NA PANTHER: F[T]=NA F[I]=NA T133I Neutral 8 0.104 SNPs&GO S137P Disease 0 0.515 PhD-SNP: F[S]=70% F[P]=2% Nali=46 S137P Unclassified NA NA PANTHER: F[S]=NA F[P]=NA S137P Neutral 7 0.142 SNPs&GO E138A Neutral 4 0.304 PhD-SNP: F[E]=77% F[A]=0% Nali=46 E138A Unclassified NA NA PANTHER: F[E]=NA F[A]=NA E138A Neutral 9 0.039 SNPs&GO D139G Neutral 6 0.216 PhD-SNP: F[D]=65% F[G]=9% Nali=45 D139G Unclassified NA NA PANTHER: F[D]=NA F[G]=NA D139G Neutral 9 0.034 SNPs&GO D139H Neutral 3 0.331 PhD-SNP: F[D]=65% F[H]=0% Nali=45 D139H Unclassified NA NA PANTHER: F[D]=NA F[H]=NA D139H Neutral 9 0.045 SNPs&GO G170D Disease 2 0.623 PhD-SNP: F[G]=68% F[D]=0% Nali=46 G170D Unclassified NA NA PANTHER: F[G]=NA F[D]=NA G170D Neutral 5 0.238 SNPs&GO G170V Neutral 0 0.477 PhD-SNP: F[G]=68% F[V]=0% Nali=46 G170V Unclassified NA NA PANTHER: F[G]=NA F[V]=NA G170V Neutral 8 0.121 SNPs&GO S180F Neutral 6 0.220 PhD-SNP: F[S]=27% F[F]=0% Nali=47 S180F Unclassified NA NA PANTHER: F[S]=NA F[F]=NA S180F Neutral 9 0.036 SNPs&GO R306C Disease 3 0.663 PhD-SNP: F[R]=28% F[C]=0% Nali=64 R306C Disease 3 0.657 PANTHER: F[R]=9% F[C]=0% R306C Neutral 2 0.419 SNPs&GO G307A Disease 7 0.833 PhD-SNP: F[G]=97% F[A]=0% Nali=67 G307A Neutral 4 0.302 PANTHER: F[G]=28% F[A]=7% G307A Disease 3 0.627 SNPs&GO G307E Disease 8 0.912 PhD-SNP: F[G]=97% F[E]=0% Nali=67 G307E Disease 1 0.567 PANTHER: F[G]=28% F[E]=2% G307E Disease 7 0.849 SNPs&GO G307R Disease 8 0.905 PhD-SNP: F[G]=97% F[R]=0% Nali=67 G307R Disease 3 0.662 PANTHER: F[G]=28% F[R]=1% G307R Disease 7 0.826 SNPs&GO P317L Disease 5 0.747 PhD-SNP: F[P]=91% F[L]=2% Nali=92 P317L Neutral 7 0.145 PANTHER: F[P]=14% F[L]=12% P317L Neutral 7 0.173 SNPs&GO P317Q Disease 6 0.811 PhD-SNP: F[P]=91% F[Q]=0% Nali=92 P317Q Neutral 1 0.470 PANTHER: F[P]=14% F[Q]=1% P317Q Neutral 1 0.471 SNPs&GO S319L Disease 5 0.748 PhD-SNP: F[S]=49% F[L]=0% Nali=134 S319L Neutral 1 0.431 PANTHER: F[S]=13% F[L]=2% S319L Neutral 0 0.484 SNPs&GO S319W Disease 7 0.856 PhD-SNP: F[S]=49% F[W]=0% Nali=134 S319W Disease 7 0.835 PANTHER: F[S]=13% F[W]=0% S319W Disease 4 0.708 SNPs&GO K333R Neutral 2 0.402 PhD-SNP: F[K]=40% F[R]=1% Nali=179 K333R Neutral 3 0.363 PANTHER: F[K]=20% F[R]=5% K333R Neutral 6 0.179 SNPs&GO C336Y Disease 5 0.755 PhD-SNP: F[C]=19% F[Y]=0% Nali=185 C336Y Neutral 1 0.460 PANTHER: F[C]=7% F[Y]=1% C336Y Disease 1 0.528 SNPs&GO T338A Neutral 3 0.343 PhD-SNP: F[T]=60% F[A]=0% Nali=192 T338A Neutral 3 0.363 PANTHER: F[T]=21% F[A]=5% T338A Neutral 7 0.146 SNPs&GO M340T Neutral 2 0.412 PhD-SNP: F[M]=8% F[T]=2% Nali=194 M340T Neutral 5 0.248 PANTHER: F[M]=3% F[T]=8% M340T Neutral 7 0.137 SNPs&GO N343K Neutral 4 0.300 PhD-SNP: F[N]=17% F[K]=9% Nali=211 N343K Neutral 5 0.265 PANTHER: F[N]=7% F[K]=18% N343K Neutral 7 0.125 SNPs&GO G344E Disease 6 0.794 PhD-SNP: F[G]=67% F[E]=7% Nali=212 G344E Neutral 3 0.375 PANTHER: F[G]=30% F[E]=7% G344E Disease 0 0.511 SNPs&GO G344R Disease 7 0.869 PhD-SNP: F[G]=67% F[R]=2% Nali=212 G344R Disease 1 0.534 PANTHER: F[G]=30% F[R]=3% G344R Disease 4 0.687 SNPs&GO L350F Disease 5 0.763 PhD-SNP: F[L]=72% F[F]=1% Nali=287 L350F Neutral 3 0.352 PANTHER: F[L]=37% F[F]=9% L350F Neutral 3 0.341 SNPs&GO G353C Disease 7 0.825 PhD-SNP: F[G]=34% F[C]=0% Nali=301 G353C Disease 5 0.766 PANTHER: F[G]=13% F[C]=0% G353C Disease 4 0.724 SNPs&GO G353S Neutral 2 0.414 PhD-SNP: F[G]=34% F[S]=14% Nali=301 G353S Neutral 5 0.229 PANTHER: F[G]=13% F[S]=7% G353S Neutral 6 0.184 SNPs&GO R358G Disease 8 0.906 PhD-SNP: F[R]=69% F[G]=1% Nali=303 R358G Disease 3 0.634 PANTHER: F[R]=30% F[G]=2% R358G Disease 3 0.671 SNPs&GO R358I Disease 8 0.893 PhD-SNP: F[R]=69% F[I]=0% Nali=303 R358I Disease 2 0.606 PANTHER: F[R]=30% F[I]=2% R358I Disease 4 0.694 SNPs&GO S359G Disease 5 0.729 PhD-SNP: F[S]=25% F[G]=1% Nali=293 S359G Disease 1 0.546 PANTHER: F[S]=22% F[G]=2% S359G Disease 1 0.537 SNPs&GO A363T Disease 6 0.806 PhD-SNP: F[A]=88% F[T]=4% Nali=292 A363T Disease 2 0.586 PANTHER: F[A]=43% F[T]=3% A363T Disease 2 0.615 SNPs&GO A363V Disease 7 0.848 PhD-SNP: F[A]=88% F[V]=2% Nali=292 A363V Disease 1 0.571 PANTHER: F[A]=43% F[V]=4% A363V Disease 3 0.633 SNPs&GO Y364C Disease 4 0.714 PhD-SNP: F[Y]=28% F[C]=0% Nali=256 Y364C Disease 4 0.705 PANTHER: F[Y]=9% F[C]=0% Y364C Neutral 1 0.468 SNPs&GO L370S Disease 2 0.607 PhD-SNP: F[L]=39% F[S]=5% Nali=240 L370S Unclassified NA NA PANTHER: F[L]=NA F[S]=NA L370S Neutral 6 0.205 SNPs&GO R379L Disease 0 0.520 PhD-SNP: F[R]=18% F[L]=3% Nali=231 R379L Neutral 4 0.275 PANTHER: F[R]=11% F[L]=4% R379L Neutral 5 0.270 SNPs&GO R379W Disease 2 0.594 PhD-SNP: F[R]=18% F[W]=0% Nali=231 R379W Disease 6 0.780 PANTHER: F[R]=11% F[W]=0% R379W Neutral 2 0.423 SNPs&GO G381A Disease 6 0.804 PhD-SNP: F[G]=92% F[A]=1% Nali=368 G381A Neutral 1 0.456 PANTHER: F[G]=49% F[A]=7% G381A Disease 2 0.590 SNPs&GO V384A Neutral 4 0.301 PhD-SNP: F[V]=57% F[A]=34% Nali=387 V384A Neutral 2 0.387 PANTHER: F[V]=52% F[A]=11% V384A Neutral 6 0.203 SNPs&GO L386P Disease 9 0.948 PhD-SNP: F[L]=70% F[P]=0% Nali=385 L386P Neutral 1 0.461 PANTHER: F[L]=51% F[P]=7% L386P Disease 5 0.760 SNPs&GO P393L Disease 8 0.878 PhD-SNP: F[P]=61% F[L]=0% Nali=130 P393L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P393L Neutral 1 0.439 SNPs&GO P393Q Disease 7 0.859 PhD-SNP: F[P]=61% F[Q]=0% Nali=130 P393Q Unclassified NA NA PANTHER: F[P]=NA F[Q]=NA P393Q Neutral 2 0.423 SNPs&GO P393S Disease 6 0.804 PhD-SNP: F[P]=61% F[S]=2% Nali=130 P393S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P393S Neutral 2 0.381 SNPs&GO P393T Disease 6 0.805 PhD-SNP: F[P]=61% F[T]=0% Nali=130 P393T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P393T Neutral 4 0.313 SNPs&GO A399T Disease 8 0.890 PhD-SNP: F[A]=71% F[T]=1% Nali=402 A399T Disease 1 0.539 PANTHER: F[A]=32% F[T]=3% A399T Disease 4 0.725 SNPs&GO F400L Disease 7 0.859 PhD-SNP: F[F]=82% F[L]=9% Nali=404 F400L Neutral 7 0.146 PANTHER: F[F]=31% F[L]=30% F400L Neutral 6 0.200 SNPs&GO C403S Disease 9 0.938 PhD-SNP: F[C]=75% F[S]=3% Nali=403 C403S Disease 2 0.610 PANTHER: F[C]=47% F[S]=3% C403S Disease 6 0.816 SNPs&GO A406G Disease 6 0.793 PhD-SNP: F[A]=87% F[G]=5% Nali=404 A406G Disease 5 0.742 PANTHER: F[A]=48% F[G]=1% A406G Disease 1 0.551 SNPs&GO A406T Disease 7 0.870 PhD-SNP: F[A]=87% F[T]=0% Nali=404 A406T Disease 3 0.647 PANTHER: F[A]=48% F[T]=3% A406T Disease 5 0.745 SNPs&GO P410L Disease 4 0.704 PhD-SNP: F[P]=30% F[L]=0% Nali=403 P410L Neutral 1 0.432 PANTHER: F[P]=18% F[L]=3% P410L Neutral 3 0.366 SNPs&GO I413M Neutral 3 0.338 PhD-SNP: F[I]=22% F[M]=2% Nali=397 I413M Disease 4 0.695 PANTHER: F[I]=40% F[M]=2% I413M Disease 0 0.506 SNPs&GO E414K Disease 1 0.532 PhD-SNP: F[E]=15% F[K]=0% Nali=382 E414K Neutral 5 0.269 PANTHER: F[E]=18% F[K]=6% E414K Neutral 4 0.293 SNPs&GO L431P Disease 8 0.909 PhD-SNP: F[L]=43% F[P]=0% Nali=398 L431P Disease 8 0.916 PANTHER: F[L]=46% F[P]=0% L431P Disease 8 0.880 SNPs&GO S433T Neutral 2 0.396 PhD-SNP: F[S]=24% F[T]=3% Nali=399 S433T Neutral 5 0.269 PANTHER: F[S]=18% F[T]=7% S433T Neutral 8 0.120 SNPs&GO V438A Neutral 5 0.242 PhD-SNP: F[V]=32% F[A]=16% Nali=401 V438A Neutral 4 0.290 PANTHER: F[V]=22% F[A]=8% V438A Neutral 8 0.111 SNPs&GO A439G Disease 2 0.577 PhD-SNP: F[A]=35% F[G]=0% Nali=403 A439G Disease 6 0.792 PANTHER: F[A]=40% F[G]=1% A439G Disease 1 0.560 SNPs&GO T441I Disease 4 0.712 PhD-SNP: F[T]=74% F[I]=2% Nali=398 T441I Disease 7 0.866 PANTHER: F[T]=51% F[I]=0% T441I Disease 2 0.611 SNPs&GO D443A Neutral 5 0.238 PhD-SNP: F[D]=24% F[A]=9% Nali=377 D443A Neutral 3 0.326 PANTHER: F[D]=24% F[A]=7% D443A Neutral 8 0.100 SNPs&GO D443Y Disease 1 0.566 PhD-SNP: F[D]=24% F[Y]=0% Nali=377 D443Y Disease 5 0.755 PANTHER: F[D]=24% F[Y]=0% D443Y Neutral 1 0.466 SNPs&GO A444P Disease 3 0.653 PhD-SNP: F[A]=41% F[P]=4% Nali=377 A444P Disease 2 0.607 PANTHER: F[A]=20% F[P]=1% A444P Disease 0 0.503 SNPs&GO G448V Neutral 3 0.341 PhD-SNP: F[G]=30% F[V]=1% Nali=346 G448V Neutral 3 0.362 PANTHER: F[G]=15% F[V]=3% G448V Neutral 7 0.161 SNPs&GO P450L Neutral 7 0.141 PhD-SNP: F[P]=26% F[L]=4% Nali=341 P450L Neutral 1 0.475 PANTHER: F[P]=17% F[L]=2% P450L Neutral 7 0.125 SNPs&GO T454M Neutral 7 0.156 PhD-SNP: F[T]=23% F[M]=3% Nali=345 T454M Unclassified NA NA PANTHER: F[T]=NA F[M]=NA T454M Neutral 9 0.057 SNPs&GO G455E Disease 1 0.541 PhD-SNP: F[G]=39% F[E]=5% Nali=334 G455E Neutral 5 0.263 PANTHER: F[G]=17% F[E]=7% G455E Neutral 4 0.296 SNPs&GO G455R Disease 2 0.618 PhD-SNP: F[G]=39% F[R]=3% Nali=334 G455R Neutral 3 0.371 PANTHER: F[G]=17% F[R]=4% G455R Neutral 2 0.423 SNPs&GO W463L Neutral 1 0.439 PhD-SNP: F[W]=39% F[L]=14% Nali=276 W463L Neutral 6 0.203 PANTHER: F[W]=24% F[L]=12% W463L Neutral 6 0.199 SNPs&GO W463R Disease 4 0.722 PhD-SNP: F[W]=39% F[R]=5% Nali=276 W463R Neutral 4 0.313 PANTHER: F[W]=24% F[R]=6% W463R Neutral 1 0.431 SNPs&GO P464L Disease 4 0.687 PhD-SNP: F[P]=61% F[L]=3% Nali=285 P464L Neutral 2 0.395 PANTHER: F[P]=23% F[L]=5% P464L Neutral 3 0.356 SNPs&GO P464S Disease 2 0.586 PhD-SNP: F[P]=61% F[S]=2% Nali=285 P464S Neutral 2 0.419 PANTHER: F[P]=23% F[S]=4% P464S Neutral 4 0.280 SNPs&GO K465N Neutral 3 0.374 PhD-SNP: F[K]=14% F[N]=3% Nali=316 K465N Neutral 3 0.349 PANTHER: F[K]=14% F[N]=3% K465N Neutral 6 0.191 SNPs&GO W468C Disease 6 0.811 PhD-SNP: F[W]=55% F[C]=3% Nali=329 W468C Disease 6 0.820 PANTHER: F[W]=36% F[C]=0% W468C Disease 3 0.639 SNPs&GO W468L Disease 3 0.631 PhD-SNP: F[W]=55% F[L]=6% Nali=329 W468L Neutral 5 0.253 PANTHER: F[W]=36% F[L]=16% W468L Neutral 5 0.263 SNPs&GO W468S Disease 5 0.773 PhD-SNP: F[W]=55% F[S]=2% Nali=329 W468S Disease 4 0.678 PANTHER: F[W]=36% F[S]=2% W468S Disease 3 0.668 SNPs&GO T471R Disease 3 0.646 PhD-SNP: F[T]=46% F[R]=1% Nali=369 T471R Disease 1 0.550 PANTHER: F[T]=28% F[R]=2% T471R Disease 0 0.508 SNPs&GO L476F Neutral 0 0.488 PhD-SNP: F[L]=45% F[F]=3% Nali=375 L476F Disease 0 0.507 PANTHER: F[L]=21% F[F]=2% L476F Neutral 5 0.236 SNPs&GO S477C Disease 0 0.506 PhD-SNP: F[S]=18% F[C]=0% Nali=378 S477C Disease 3 0.643 PANTHER: F[S]=10% F[C]=0% S477C Neutral 4 0.314 SNPs&GO S477F Neutral 1 0.467 PhD-SNP: F[S]=18% F[F]=1% Nali=378 S477F Neutral 5 0.243 PANTHER: F[S]=10% F[F]=4% S477F Neutral 7 0.140 SNPs&GO K478E Neutral 3 0.336 PhD-SNP: F[K]=21% F[E]=12% Nali=377 K478E Neutral 4 0.295 PANTHER: F[K]=25% F[E]=8% K478E Neutral 5 0.240 SNPs&GO P479L Neutral 4 0.298 PhD-SNP: F[P]=38% F[L]=5% Nali=365 P479L Neutral 7 0.169 PANTHER: F[P]=13% F[L]=10% P479L Neutral 8 0.087 SNPs&GO P479Q Neutral 2 0.415 PhD-SNP: F[P]=38% F[Q]=1% Nali=365 P479Q Neutral 5 0.247 PANTHER: F[P]=13% F[Q]=6% P479Q Neutral 7 0.137 SNPs&GO P480L Neutral 4 0.279 PhD-SNP: F[P]=36% F[L]=3% Nali=345 P480L Neutral 5 0.258 PANTHER: F[P]=10% F[L]=3% P480L Neutral 8 0.105 SNPs&GO W483C Disease 4 0.687 PhD-SNP: F[W]=40% F[C]=2% Nali=335 W483C Disease 2 0.621 PANTHER: F[W]=9% F[C]=0% W483C Neutral 2 0.405 SNPs&GO P485S Disease 3 0.666 PhD-SNP: F[P]=67% F[S]=2% Nali=352 P485S Neutral 5 0.234 PANTHER: F[P]=11% F[S]=5% P485S Neutral 6 0.223 SNPs&GO A495E Disease 8 0.910 PhD-SNP: F[A]=88% F[E]=0% Nali=412 A495E Neutral 0 0.499 PANTHER: F[A]=30% F[E]=4% A495E Disease 4 0.721 SNPs&GO A495T Disease 8 0.883 PhD-SNP: F[A]=88% F[T]=0% Nali=412 A495T Neutral 0 0.492 PANTHER: F[A]=30% F[T]=4% A495T Disease 3 0.673 SNPs&GO A495V Disease 6 0.810 PhD-SNP: F[A]=88% F[V]=2% Nali=412 A495V Neutral 4 0.315 PANTHER: F[A]=30% F[V]=9% A495V Neutral 2 0.377 SNPs&GO T501M Disease 4 0.724 PhD-SNP: F[T]=12% F[M]=0% Nali=415 T501M Disease 3 0.644 PANTHER: F[T]=18% F[M]=1% T501M Disease 2 0.575 SNPs&GO T501S Neutral 8 0.113 PhD-SNP: F[T]=12% F[S]=79% Nali=415 T501S Neutral 7 0.173 PANTHER: F[T]=18% F[S]=24% T501S Neutral 9 0.052 SNPs&GO S506G Neutral 3 0.345 PhD-SNP: F[S]=16% F[G]=0% Nali=415 S506G Neutral 0 0.478 PANTHER: F[S]=17% F[G]=2% S506G Neutral 6 0.218 SNPs&GO T513A Disease 3 0.672 PhD-SNP: F[T]=47% F[A]=0% Nali=417 T513A Neutral 0 0.487 PANTHER: F[T]=32% F[A]=4% T513A Disease 1 0.530 SNPs&GO T513K Disease 7 0.867 PhD-SNP: F[T]=47% F[K]=0% Nali=417 T513K Disease 1 0.555 PANTHER: F[T]=32% F[K]=3% T513K Disease 4 0.724 SNPs&GO T513M Disease 5 0.737 PhD-SNP: F[T]=47% F[M]=0% Nali=417 T513M Disease 7 0.834 PANTHER: F[T]=32% F[M]=0% T513M Disease 3 0.661 SNPs&GO T513R Disease 7 0.830 PhD-SNP: F[T]=47% F[R]=3% Nali=417 T513R Disease 3 0.657 PANTHER: F[T]=32% F[R]=2% T513R Disease 5 0.739 SNPs&GO R514G Disease 5 0.726 PhD-SNP: F[R]=11% F[G]=0% Nali=415 R514G Neutral 1 0.460 PANTHER: F[R]=13% F[G]=2% R514G Neutral 1 0.437 SNPs&GO R514M Disease 2 0.623 PhD-SNP: F[R]=11% F[M]=0% Nali=415 R514M Disease 2 0.610 PANTHER: F[R]=13% F[M]=1% R514M Neutral 2 0.391 SNPs&GO R514T Disease 1 0.536 PhD-SNP: F[R]=11% F[T]=0% Nali=415 R514T Neutral 7 0.143 PANTHER: F[R]=13% F[T]=13% R514T Neutral 8 0.108 SNPs&GO A516V Disease 2 0.618 PhD-SNP: F[A]=20% F[V]=0% Nali=414 A516V Neutral 1 0.455 PANTHER: F[A]=14% F[V]=2% A516V Neutral 3 0.349 SNPs&GO Y530H Neutral 6 0.189 PhD-SNP: F[Y]=22% F[H]=17% Nali=416 Y530H Neutral 2 0.387 PANTHER: F[Y]=18% F[H]=4% Y530H Neutral 7 0.145 SNPs&GO E534K Disease 2 0.612 PhD-SNP: F[E]=19% F[K]=1% Nali=421 E534K Neutral 3 0.327 PANTHER: F[E]=23% F[K]=6% E534K Neutral 2 0.417 SNPs&GO I536N Disease 6 0.783 PhD-SNP: F[I]=18% F[N]=0% Nali=422 I536N Disease 1 0.533 PANTHER: F[I]=11% F[N]=1% I536N Disease 4 0.693 SNPs&GO V537M Disease 5 0.775 PhD-SNP: F[V]=66% F[M]=2% Nali=421 V537M Disease 2 0.587 PANTHER: F[V]=26% F[M]=2% V537M Neutral 1 0.428 SNPs&GO D541N Disease 7 0.836 PhD-SNP: F[D]=21% F[N]=0% Nali=421 D541N Disease 1 0.536 PANTHER: F[D]=33% F[N]=3% D541N Disease 3 0.649 SNPs&GO D545N Disease 9 0.940 PhD-SNP: F[D]=86% F[N]=1% Nali=421 D545N Neutral 3 0.374 PANTHER: F[D]=22% F[N]=5% D545N Disease 4 0.695 SNPs&GO H550L Disease 2 0.623 PhD-SNP: F[H]=15% F[L]=14% Nali=417 H550L Neutral 7 0.159 PANTHER: F[H]=14% F[L]=16% H550L Neutral 5 0.259 SNPs&GO G551D Disease 8 0.920 PhD-SNP: F[G]=55% F[D]=0% Nali=415 G551D Disease 4 0.706 PANTHER: F[G]=42% F[D]=2% G551D Disease 7 0.828 SNPs&GO T554I Disease 6 0.777 PhD-SNP: F[T]=20% F[I]=2% Nali=419 T554I Neutral 0 0.486 PANTHER: F[T]=13% F[I]=1% T554I Disease 1 0.543 SNPs&GO T554R Disease 7 0.857 PhD-SNP: F[T]=20% F[R]=0% Nali=419 T554R Neutral 4 0.322 PANTHER: F[T]=13% F[R]=4% T554R Disease 2 0.601 SNPs&GO M560T Neutral 1 0.454 PhD-SNP: F[M]=12% F[T]=6% Nali=410 M560T Neutral 4 0.310 PANTHER: F[M]=13% F[T]=4% M560T Neutral 5 0.274 SNPs&GO H561L Disease 3 0.666 PhD-SNP: F[H]=21% F[L]=3% Nali=410 H561L Neutral 3 0.328 PANTHER: F[H]=16% F[L]=5% H561L Neutral 3 0.346 SNPs&GO H561Y Disease 0 0.517 PhD-SNP: F[H]=21% F[Y]=4% Nali=410 H561Y Disease 2 0.594 PANTHER: F[H]=16% F[Y]=1% H561Y Neutral 3 0.346 SNPs&GO P566S Disease 4 0.682 PhD-SNP: F[P]=73% F[S]=14% Nali=410 P566S Neutral 3 0.334 PANTHER: F[P]=23% F[S]=4% P566S Neutral 4 0.324 SNPs&GO Y567H Neutral 2 0.421 PhD-SNP: F[Y]=15% F[H]=1% Nali=411 Y567H Disease 0 0.503 PANTHER: F[Y]=18% F[H]=1% Y567H Neutral 4 0.283 SNPs&GO S568L Disease 4 0.693 PhD-SNP: F[S]=22% F[L]=2% Nali=412 S568L Neutral 3 0.332 PANTHER: F[S]=11% F[L]=2% S568L Neutral 3 0.369 SNPs&GO S568W Disease 6 0.821 PhD-SNP: F[S]=22% F[W]=0% Nali=412 S568W Disease 5 0.771 PANTHER: F[S]=11% F[W]=0% S568W Disease 1 0.567 SNPs&GO L569Q Disease 4 0.722 PhD-SNP: F[L]=15% F[Q]=0% Nali=413 L569Q Disease 3 0.636 PANTHER: F[L]=28% F[Q]=1% L569Q Disease 2 0.597 SNPs&GO M570I Disease 1 0.573 PhD-SNP: F[M]=18% F[I]=10% Nali=412 M570I Neutral 4 0.279 PANTHER: F[M]=24% F[I]=7% M570I Neutral 3 0.356 SNPs&GO K571E Disease 2 0.606 PhD-SNP: F[K]=20% F[E]=6% Nali=396 K571E Neutral 4 0.296 PANTHER: F[K]=21% F[E]=7% K571E Neutral 4 0.324 SNPs&GO N573I Disease 3 0.666 PhD-SNP: F[N]=19% F[I]=0% Nali=404 N573I Neutral 1 0.450 PANTHER: F[N]=10% F[I]=1% N573I Neutral 3 0.352 SNPs&GO N573K Neutral 1 0.445 PhD-SNP: F[N]=19% F[K]=11% Nali=404 N573K Neutral 6 0.202 PANTHER: F[N]=10% F[K]=6% N573K Neutral 6 0.180 SNPs&GO S576C Disease 4 0.685 PhD-SNP: F[S]=17% F[C]=2% Nali=410 S576C Disease 6 0.798 PANTHER: F[S]=19% F[C]=0% S576C Neutral 1 0.463 SNPs&GO S576F Disease 5 0.764 PhD-SNP: F[S]=17% F[F]=1% Nali=410 S576F Disease 5 0.741 PANTHER: F[S]=19% F[F]=0% S576F Disease 3 0.655 SNPs&GO S576Y Disease 6 0.777 PhD-SNP: F[S]=17% F[Y]=0% Nali=410 S576Y Disease 4 0.712 PANTHER: F[S]=19% F[Y]=0% S576Y Disease 3 0.638 SNPs&GO A586E Disease 6 0.782 PhD-SNP: F[A]=56% F[E]=0% Nali=399 A586E Neutral 2 0.423 PANTHER: F[A]=18% F[E]=3% A586E Neutral 1 0.467 SNPs&GO A589S Neutral 8 0.120 PhD-SNP: F[A]=25% F[S]=39% Nali=388 A589S Neutral 4 0.324 PANTHER: F[A]=15% F[S]=4% A589S Neutral 8 0.089 SNPs&GO A589V Neutral 1 0.462 PhD-SNP: F[A]=25% F[V]=3% Nali=388 A589V Neutral 4 0.308 PANTHER: F[A]=15% F[V]=4% A589V Neutral 7 0.175 SNPs&GO C590S Disease 0 0.512 PhD-SNP: F[C]=17% F[S]=3% Nali=361 C590S Neutral 7 0.169 PANTHER: F[C]=4% F[S]=3% C590S Neutral 6 0.206 SNPs&GO V591A Neutral 7 0.167 PhD-SNP: F[V]=25% F[A]=28% Nali=364 V591A Neutral 4 0.275 PANTHER: F[V]=16% F[A]=6% V591A Neutral 8 0.078 SNPs&GO S593L Disease 3 0.649 PhD-SNP: F[S]=17% F[L]=0% Nali=392 S593L Neutral 7 0.166 PANTHER: F[S]=15% F[L]=12% S593L Neutral 6 0.179 SNPs&GO D595Y Disease 7 0.865 PhD-SNP: F[D]=38% F[Y]=0% Nali=397 D595Y Disease 6 0.822 PANTHER: F[D]=28% F[Y]=0% D595Y Disease 5 0.748 SNPs&GO M596R Disease 6 0.810 PhD-SNP: F[M]=11% F[R]=0% Nali=396 M596R Disease 2 0.597 PANTHER: F[M]=9% F[R]=0% M596R Disease 4 0.701 SNPs&GO A599V Neutral 2 0.403 PhD-SNP: F[A]=29% F[V]=1% Nali=394 A599V Neutral 1 0.436 PANTHER: F[A]=11% F[V]=2% A599V Neutral 6 0.198 SNPs&GO R604I Disease 5 0.752 PhD-SNP: F[R]=40% F[I]=0% Nali=413 R604I Disease 5 0.755 PANTHER: F[R]=30% F[I]=1% R604I Disease 4 0.681 SNPs&GO R604T Disease 4 0.685 PhD-SNP: F[R]=40% F[T]=3% Nali=413 R604T Disease 2 0.621 PANTHER: F[R]=30% F[T]=2% R604T Disease 2 0.602 SNPs&GO R607S Neutral 0 0.497 PhD-SNP: F[R]=20% F[S]=4% Nali=411 R607S Neutral 5 0.244 PANTHER: F[R]=11% F[S]=5% R607S Neutral 5 0.233 SNPs&GO R607T Neutral 1 0.463 PhD-SNP: F[R]=20% F[T]=3% Nali=411 R607T Neutral 4 0.288 PANTHER: F[R]=11% F[T]=4% R607T Neutral 6 0.204 SNPs&GO R615L Disease 8 0.879 PhD-SNP: F[R]=46% F[L]=0% Nali=406 R615L Disease 2 0.605 PANTHER: F[R]=26% F[L]=2% R615L Disease 5 0.726 SNPs&GO R615Q Disease 4 0.681 PhD-SNP: F[R]=46% F[Q]=4% Nali=406 R615Q Neutral 1 0.445 PANTHER: F[R]=26% F[Q]=4% R615Q Neutral 1 0.460 SNPs&GO V619A Neutral 5 0.229 PhD-SNP: F[V]=30% F[A]=41% Nali=318 V619A Disease 2 0.609 PANTHER: F[V]=46% F[A]=2% V619A Neutral 3 0.328 SNPs&GO V619G Disease 6 0.810 PhD-SNP: F[V]=30% F[G]=1% Nali=318 V619G Disease 7 0.851 PANTHER: F[V]=46% F[G]=0% V619G Disease 7 0.840 SNPs&GO S630F Disease 7 0.871 PhD-SNP: F[S]=21% F[F]=0% Nali=413 S630F Neutral 1 0.449 PANTHER: F[S]=17% F[F]=2% S630F Disease 1 0.568 SNPs&GO S630P Disease 8 0.920 PhD-SNP: F[S]=21% F[P]=0% Nali=413 S630P Disease 3 0.649 PANTHER: F[S]=17% F[P]=1% S630P Disease 7 0.868 SNPs&GO C631S Disease 2 0.607 PhD-SNP: F[C]=16% F[S]=0% Nali=405 C631S Neutral 0 0.475 PANTHER: F[C]=16% F[S]=2% C631S Disease 0 0.503 SNPs&GO C631W Disease 6 0.789 PhD-SNP: F[C]=16% F[W]=0% Nali=405 C631W Disease 6 0.795 PANTHER: F[C]=16% F[W]=0% C631W Disease 5 0.739 SNPs&GO N636I Neutral 2 0.407 PhD-SNP: F[N]=12% F[I]=0% Nali=415 N636I Neutral 2 0.414 PANTHER: F[N]=9% F[I]=1% N636I Neutral 7 0.174 SNPs&GO F638V Disease 8 0.918 PhD-SNP: F[F]=90% F[V]=0% Nali=416 F638V Disease 3 0.659 PANTHER: F[F]=36% F[V]=2% F638V Disease 4 0.707 SNPs&GO S640R Disease 0 0.524 PhD-SNP: F[S]=16% F[R]=8% Nali=412 S640R Neutral 6 0.216 PANTHER: F[S]=13% F[R]=7% S640R Neutral 7 0.152 SNPs&GO R644Q Disease 2 0.607 PhD-SNP: F[R]=44% F[Q]=4% Nali=413 R644Q Neutral 3 0.363 PANTHER: F[R]=23% F[Q]=4% R644Q Neutral 4 0.295 SNPs&GO I648F Neutral 7 0.144 PhD-SNP: F[I]=23% F[F]=36% Nali=413 I648F Neutral 6 0.182 PANTHER: F[I]=25% F[F]=17% I648F Neutral 9 0.041 SNPs&GO C649Y Neutral 4 0.306 PhD-SNP: F[C]=18% F[Y]=21% Nali=413 C649Y Neutral 2 0.396 PANTHER: F[C]=15% F[Y]=3% C649Y Neutral 7 0.137 SNPs&GO S654L Neutral 7 0.161 PhD-SNP: F[S]=15% F[L]=54% Nali=415 S654L Neutral 6 0.197 PANTHER: F[S]=17% F[L]=27% S654L Neutral 9 0.039 SNPs&GO R663Q Neutral 3 0.330 PhD-SNP: F[R]=30% F[Q]=3% Nali=305 R663Q Neutral 3 0.348 PANTHER: F[R]=16% F[Q]=4% R663Q Neutral 6 0.203 SNPs&GO S669R Neutral 2 0.396 PhD-SNP: F[S]=24% F[R]=4% Nali=335 S669R Neutral 5 0.234 PANTHER: F[S]=10% F[R]=4% S669R Neutral 7 0.155 SNPs&GO P673L Neutral 1 0.462 PhD-SNP: F[P]=54% F[L]=4% Nali=356 P673L Neutral 3 0.366 PANTHER: F[P]=16% F[L]=3% P673L Neutral 6 0.188 SNPs&GO P673R Disease 1 0.558 PhD-SNP: F[P]=54% F[R]=3% Nali=356 P673R Neutral 2 0.398 PANTHER: F[P]=16% F[R]=3% P673R Neutral 5 0.275 SNPs&GO R675W Disease 1 0.568 PhD-SNP: F[R]=32% F[W]=0% Nali=353 R675W Disease 7 0.867 PANTHER: F[R]=18% F[W]=0% R675W Neutral 1 0.465 SNPs&GO M680V Neutral 1 0.436 PhD-SNP: F[M]=16% F[V]=6% Nali=375 M680V Neutral 5 0.267 PANTHER: F[M]=13% F[V]=5% M680V Neutral 4 0.293 SNPs&GO T684I Disease 0 0.523 PhD-SNP: F[T]=13% F[I]=0% Nali=368 T684I Disease 1 0.572 PANTHER: F[T]=14% F[I]=1% T684I Neutral 1 0.430 SNPs&GO R689G Disease 5 0.741 PhD-SNP: F[R]=40% F[G]=3% Nali=382 R689G Disease 1 0.551 PANTHER: F[R]=23% F[G]=2% R689G Disease 1 0.525 SNPs&GO R689L Disease 7 0.842 PhD-SNP: F[R]=40% F[L]=1% Nali=382 R689L Disease 1 0.553 PANTHER: F[R]=23% F[L]=2% R689L Disease 4 0.722 SNPs&GO R689P Disease 7 0.873 PhD-SNP: F[R]=40% F[P]=5% Nali=382 R689P Disease 3 0.638 PANTHER: F[R]=23% F[P]=1% R689P Disease 6 0.807 SNPs&GO L699F Neutral 4 0.310 PhD-SNP: F[L]=31% F[F]=2% Nali=408 L699F Disease 4 0.723 PANTHER: F[L]=29% F[F]=1% L699F Neutral 5 0.271 SNPs&GO T700A Neutral 7 0.153 PhD-SNP: F[T]=27% F[A]=10% Nali=407 T700A Neutral 3 0.375 PANTHER: F[T]=22% F[A]=5% T700A Neutral 7 0.141 SNPs&GO T700I Neutral 5 0.260 PhD-SNP: F[T]=27% F[I]=2% Nali=407 T700I Neutral 3 0.336 PANTHER: F[T]=22% F[I]=6% T700I Neutral 8 0.105 SNPs&GO D703N Neutral 3 0.325 PhD-SNP: F[D]=27% F[N]=3% Nali=384 D703N Neutral 4 0.315 PANTHER: F[D]=17% F[N]=4% D703N Neutral 7 0.146 SNPs&GO A711T Neutral 5 0.254 PhD-SNP: F[A]=29% F[T]=9% Nali=420 A711T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A711T Neutral 8 0.081 SNPs&GO C734R Disease 7 0.874 PhD-SNP: F[C]=14% F[R]=1% Nali=442 C734R Disease 4 0.693 PANTHER: F[C]=19% F[R]=1% C734R Disease 7 0.865 SNPs&GO C734S Disease 5 0.773 PhD-SNP: F[C]=14% F[S]=0% Nali=442 C734S Disease 0 0.511 PANTHER: F[C]=19% F[S]=2% C734S Disease 3 0.631 SNPs&GO A737V Disease 1 0.557 PhD-SNP: F[A]=3% F[V]=0% Nali=440 A737V Disease 0 0.516 PANTHER: F[A]=13% F[V]=1% A737V Neutral 1 0.457 SNPs&GO A739V Disease 2 0.582 PhD-SNP: F[A]=10% F[V]=0% Nali=441 A739V Neutral 1 0.474 PANTHER: F[A]=15% F[V]=2% A739V Neutral 2 0.401 SNPs&GO T740M Neutral 1 0.464 PhD-SNP: F[T]=11% F[M]=4% Nali=441 T740M Neutral 2 0.417 PANTHER: F[T]=13% F[M]=2% T740M Neutral 5 0.248 SNPs&GO Y744F Disease 7 0.841 PhD-SNP: F[Y]=90% F[F]=9% Nali=443 Y744F Neutral 5 0.268 PANTHER: F[Y]=45% F[F]=18% Y744F Neutral 2 0.408 SNPs&GO Y745C Disease 8 0.895 PhD-SNP: F[Y]=14% F[C]=0% Nali=441 Y745C Disease 2 0.604 PANTHER: F[Y]=12% F[C]=1% Y745C Disease 4 0.704 SNPs&GO M760R Neutral 4 0.320 PhD-SNP: F[M]=2% F[R]=7% Nali=363 M760R Neutral 4 0.286 PANTHER: F[M]=5% F[R]=1% M760R Neutral 5 0.225 SNPs&GO G764E Disease 6 0.805 PhD-SNP: F[G]=72% F[E]=2% Nali=393 G764E Neutral 5 0.250 PANTHER: F[G]=16% F[E]=7% G764E Neutral 1 0.469 SNPs&GO P766T Disease 1 0.555 PhD-SNP: F[P]=53% F[T]=3% Nali=301 P766T Neutral 7 0.158 PANTHER: F[P]=13% F[T]=8% P766T Neutral 8 0.107 SNPs&GO R774K Disease 7 0.828 PhD-SNP: F[R]=89% F[K]=2% Nali=439 R774K Disease 3 0.649 PANTHER: F[R]=64% F[K]=4% R774K Disease 5 0.732 SNPs&GO G784R Disease 9 0.947 PhD-SNP: F[G]=76% F[R]=1% Nali=437 G784R Neutral 4 0.281 PANTHER: F[G]=15% F[R]=5% G784R Disease 6 0.820 SNPs&GO L786F Disease 6 0.816 PhD-SNP: F[L]=74% F[F]=1% Nali=399 L786F Disease 1 0.572 PANTHER: F[L]=12% F[F]=1% L786F Disease 1 0.572 SNPs&GO V787A Disease 4 0.692 PhD-SNP: F[V]=49% F[A]=0% Nali=216 V787A Disease 1 0.551 PANTHER: F[V]=36% F[A]=3% V787A Disease 3 0.633 SNPs&GO V789M Disease 5 0.740 PhD-SNP: F[V]=53% F[M]=0% Nali=439 V789M Disease 6 0.817 PANTHER: F[V]=67% F[M]=1% V789M Disease 3 0.666 SNPs&GO G791S Disease 8 0.913 PhD-SNP: F[G]=98% F[S]=1% Nali=439 G791S Disease 3 0.634 PANTHER: F[G]=55% F[S]=3% G791S Disease 7 0.842 SNPs&GO D794Y Disease 7 0.863 PhD-SNP: F[D]=12% F[Y]=0% Nali=439 D794Y Disease 4 0.711 PANTHER: F[D]=20% F[Y]=0% D794Y Disease 4 0.693 SNPs&GO G795D Neutral 1 0.459 PhD-SNP: F[G]=16% F[D]=74% Nali=439 G795D Neutral 6 0.201 PANTHER: F[G]=15% F[D]=25% G795D Neutral 7 0.156 SNPs&GO L796F Disease 7 0.854 PhD-SNP: F[L]=61% F[F]=0% Nali=439 L796F Disease 1 0.537 PANTHER: F[L]=24% F[F]=2% L796F Disease 2 0.576 SNPs&GO M797K Disease 8 0.892 PhD-SNP: F[M]=14% F[K]=0% Nali=438 M797K Disease 5 0.744 PANTHER: F[M]=14% F[K]=0% M797K Disease 7 0.838 SNPs&GO M797R Disease 8 0.893 PhD-SNP: F[M]=14% F[R]=0% Nali=438 M797R Disease 5 0.735 PANTHER: F[M]=14% F[R]=0% M797R Disease 7 0.860 SNPs&GO V799A Disease 5 0.744 PhD-SNP: F[V]=46% F[A]=2% Nali=433 V799A Disease 2 0.603 PANTHER: F[V]=45% F[A]=3% V799A Disease 3 0.643 SNPs&GO V799G Disease 8 0.877 PhD-SNP: F[V]=46% F[G]=0% Nali=433 V799G Disease 6 0.818 PANTHER: F[V]=45% F[G]=1% V799G Disease 6 0.825 SNPs&GO G801R Disease 9 0.949 PhD-SNP: F[G]=92% F[R]=0% Nali=434 G801R Neutral 4 0.278 PANTHER: F[G]=22% F[R]=8% G801R Disease 3 0.657 SNPs&GO R803W Disease 7 0.863 PhD-SNP: F[R]=12% F[W]=0% Nali=437 R803W Disease 7 0.830 PANTHER: F[R]=12% F[W]=0% R803W Disease 4 0.683 SNPs&GO H804Y Disease 5 0.757 PhD-SNP: F[H]=56% F[Y]=15% Nali=435 H804Y Disease 4 0.689 PANTHER: F[H]=25% F[Y]=1% H804Y Disease 4 0.677 SNPs&GO N805D Disease 6 0.784 PhD-SNP: F[N]=11% F[D]=1% Nali=434 N805D Neutral 2 0.397 PANTHER: F[N]=13% F[D]=2% N805D Disease 2 0.617 SNPs&GO D807N Disease 4 0.704 PhD-SNP: F[D]=21% F[N]=1% Nali=435 D807N Disease 0 0.515 PANTHER: F[D]=30% F[N]=3% D807N Disease 2 0.586 SNPs&GO A815V Disease 2 0.579 PhD-SNP: F[A]=36% F[V]=7% Nali=343 A815V Neutral 7 0.156 PANTHER: F[A]=18% F[V]=16% A815V Neutral 7 0.150 SNPs&GO V816L Disease 2 0.580 PhD-SNP: F[V]=32% F[L]=4% Nali=363 V816L Neutral 4 0.308 PANTHER: F[V]=20% F[L]=6% V816L Neutral 3 0.349 SNPs&GO F830Y Disease 9 0.942 PhD-SNP: F[F]=78% F[Y]=1% Nali=421 F830Y Disease 3 0.643 PANTHER: F[F]=53% F[Y]=3% F830Y Disease 6 0.789 SNPs&GO S831L Disease 7 0.852 PhD-SNP: F[S]=47% F[L]=0% Nali=420 S831L Disease 1 0.537 PANTHER: F[S]=19% F[L]=2% S831L Disease 3 0.639 SNPs&GO T833I Disease 3 0.643 PhD-SNP: F[T]=12% F[I]=0% Nali=419 T833I Neutral 1 0.426 PANTHER: F[T]=10% F[I]=2% T833I Neutral 4 0.300 SNPs&GO V834M Neutral 1 0.464 PhD-SNP: F[V]=37% F[M]=1% Nali=416 V834M Neutral 3 0.340 PANTHER: F[V]=31% F[M]=8% V834M Neutral 6 0.187 SNPs&GO L835P Disease 7 0.850 PhD-SNP: F[L]=15% F[P]=2% Nali=409 L835P Neutral 3 0.349 PANTHER: F[L]=11% F[P]=3% L835P Disease 1 0.538 SNPs&GO D837A Neutral 1 0.457 PhD-SNP: F[D]=22% F[A]=4% Nali=422 D837A Neutral 6 0.209 PANTHER: F[D]=27% F[A]=16% D837A Neutral 8 0.123 SNPs&GO D837N Neutral 3 0.342 PhD-SNP: F[D]=22% F[N]=2% Nali=422 D837N Neutral 0 0.483 PANTHER: F[D]=27% F[N]=3% D837N Neutral 5 0.261 SNPs&GO V841A Disease 3 0.642 PhD-SNP: F[V]=65% F[A]=4% Nali=427 V841A Disease 0 0.506 PANTHER: F[V]=38% F[A]=4% V841A Neutral 2 0.414 SNPs&GO V841G Disease 6 0.807 PhD-SNP: F[V]=65% F[G]=6% Nali=427 V841G Disease 4 0.720 PANTHER: F[V]=38% F[G]=1% V841G Disease 2 0.612 SNPs&GO V843M Disease 1 0.573 PhD-SNP: F[V]=57% F[M]=1% Nali=425 V843M Disease 2 0.582 PANTHER: F[V]=28% F[M]=2% V843M Neutral 4 0.316 SNPs&GO A844T Neutral 1 0.436 PhD-SNP: F[A]=43% F[T]=0% Nali=424 A844T Neutral 1 0.463 PANTHER: F[A]=23% F[T]=3% A844T Neutral 4 0.276 SNPs&GO E845K Disease 7 0.847 PhD-SNP: F[E]=91% F[K]=1% Nali=423 E845K Neutral 1 0.433 PANTHER: F[E]=61% F[K]=10% E845K Disease 2 0.580 SNPs&GO Q846E Neutral 7 0.172 PhD-SNP: F[Q]=17% F[E]=9% Nali=417 Q846E Neutral 5 0.233 PANTHER: F[Q]=16% F[E]=8% Q846E Neutral 8 0.090 SNPs&GO Q846H Neutral 6 0.220 PhD-SNP: F[Q]=17% F[H]=0% Nali=417 Q846H Disease 0 0.514 PANTHER: F[Q]=16% F[H]=2% Q846H Neutral 7 0.148 SNPs&GO Q846K Neutral 6 0.209 PhD-SNP: F[Q]=17% F[K]=8% Nali=417 Q846K Neutral 6 0.189 PANTHER: F[Q]=16% F[K]=11% Q846K Neutral 8 0.080 SNPs&GO P848S Neutral 6 0.180 PhD-SNP: F[P]=27% F[S]=8% Nali=408 P848S Neutral 6 0.217 PANTHER: F[P]=17% F[S]=9% P848S Neutral 9 0.057 SNPs&GO T851M Neutral 7 0.143 PhD-SNP: F[T]=16% F[M]=0% Nali=405 T851M Neutral 2 0.413 PANTHER: F[T]=6% F[M]=1% T851M Neutral 8 0.083 SNPs&GO F856Y Neutral 4 0.294 PhD-SNP: F[F]=19% F[Y]=1% Nali=394 F856Y Disease 1 0.561 PANTHER: F[F]=13% F[Y]=1% F856Y Neutral 4 0.293 SNPs&GO M859L Neutral 6 0.210 PhD-SNP: F[M]=17% F[L]=17% Nali=401 M859L Neutral 7 0.148 PANTHER: F[M]=14% F[L]=13% M859L Neutral 8 0.090 SNPs&GO R861C Disease 4 0.719 PhD-SNP: F[R]=32% F[C]=0% Nali=416 R861C Disease 6 0.812 PANTHER: F[R]=19% F[C]=0% R861C Disease 2 0.582 SNPs&GO R861G Disease 3 0.627 PhD-SNP: F[R]=32% F[G]=1% Nali=416 R861G Neutral 2 0.409 PANTHER: F[R]=19% F[G]=3% R861G Neutral 3 0.344 SNPs&GO R861H Disease 0 0.524 PhD-SNP: F[R]=32% F[H]=1% Nali=416 R861H Neutral 1 0.431 PANTHER: F[R]=19% F[H]=3% R861H Neutral 4 0.294 SNPs&GO A865V Disease 5 0.744 PhD-SNP: F[A]=67% F[V]=7% Nali=414 A865V Neutral 6 0.191 PANTHER: F[A]=40% F[V]=26% A865V Neutral 6 0.198 SNPs&GO I866S Disease 8 0.887 PhD-SNP: F[I]=37% F[S]=0% Nali=410 I866S Disease 5 0.743 PANTHER: F[I]=27% F[S]=1% I866S Disease 7 0.837 SNPs&GO I866T Disease 6 0.779 PhD-SNP: F[I]=37% F[T]=1% Nali=410 I866T Neutral 4 0.324 PANTHER: F[I]=27% F[T]=8% I866T Neutral 2 0.417 SNPs&GO D867Y Disease 5 0.773 PhD-SNP: F[D]=19% F[Y]=3% Nali=409 D867Y Disease 1 0.566 PANTHER: F[D]=15% F[Y]=1% D867Y Disease 0 0.525 SNPs&GO A878V Neutral 7 0.148 PhD-SNP: F[A]=20% F[V]=40% Nali=417 A878V Neutral 5 0.234 PANTHER: F[A]=20% F[V]=10% A878V Neutral 8 0.079 SNPs&GO P881S Neutral 1 0.437 PhD-SNP: F[P]=35% F[S]=5% Nali=418 P881S Neutral 3 0.347 PANTHER: F[P]=19% F[S]=5% P881S Neutral 6 0.209 SNPs&GO P881T Neutral 1 0.426 PhD-SNP: F[P]=35% F[T]=0% Nali=418 P881T Neutral 2 0.401 PANTHER: F[P]=19% F[T]=3% P881T Neutral 6 0.188 SNPs&GO N883I Disease 2 0.621 PhD-SNP: F[N]=22% F[I]=0% Nali=417 N883I Disease 2 0.594 PANTHER: F[N]=19% F[I]=1% N883I Neutral 1 0.455 SNPs&GO N883S Neutral 1 0.457 PhD-SNP: F[N]=22% F[S]=3% Nali=417 N883S Neutral 6 0.181 PANTHER: F[N]=19% F[S]=14% N883S Neutral 8 0.097 SNPs&GO L885F Disease 4 0.699 PhD-SNP: F[L]=42% F[F]=1% Nali=418 L885F Disease 5 0.739 PANTHER: F[L]=49% F[F]=2% L885F Disease 2 0.587 SNPs&GO P886S Disease 5 0.750 PhD-SNP: F[P]=83% F[S]=3% Nali=418 P886S Disease 6 0.795 PANTHER: F[P]=66% F[S]=1% P886S Disease 4 0.705 SNPs&GO P889S Neutral 8 0.093 PhD-SNP: F[P]=13% F[S]=41% Nali=417 P889S Neutral 6 0.187 PANTHER: F[P]=14% F[S]=9% P889S Neutral 9 0.043 SNPs&GO G891D Disease 8 0.890 PhD-SNP: F[G]=90% F[D]=0% Nali=417 G891D Disease 2 0.615 PANTHER: F[G]=35% F[D]=2% G891D Disease 4 0.718 SNPs&GO L895S Disease 1 0.532 PhD-SNP: F[L]=8% F[S]=0% Nali=398 L895S Neutral 5 0.271 PANTHER: F[L]=10% F[S]=4% L895S Neutral 8 0.125 SNPs&GO S896L Disease 1 0.558 PhD-SNP: F[S]=27% F[L]=1% Nali=398 S896L Neutral 3 0.338 PANTHER: F[S]=14% F[L]=4% S896L Neutral 5 0.270 SNPs&GO E897K Neutral 1 0.433 PhD-SNP: F[E]=17% F[K]=2% Nali=392 E897K Neutral 6 0.195 PANTHER: F[E]=16% F[K]=10% E897K Neutral 6 0.197 SNPs&GO G905C Disease 7 0.857 PhD-SNP: F[G]=79% F[C]=0% Nali=352 G905C Disease 8 0.886 PANTHER: F[G]=47% F[C]=0% G905C Disease 4 0.718 SNPs&GO S906F Neutral 1 0.473 PhD-SNP: F[S]=24% F[F]=0% Nali=347 S906F Disease 3 0.640 PANTHER: F[S]=12% F[F]=0% S906F Neutral 4 0.289 SNPs&GO L907V Disease 4 0.683 PhD-SNP: F[L]=89% F[V]=0% Nali=338 L907V Disease 6 0.790 PANTHER: F[L]=84% F[V]=2% L907V Disease 4 0.709 SNPs&GO P909H Disease 2 0.605 PhD-SNP: F[P]=50% F[H]=0% Nali=152 P909H Disease 3 0.627 PANTHER: F[P]=15% F[H]=1% P909H Neutral 4 0.296 SNPs&GO P909S Neutral 3 0.348 PhD-SNP: F[P]=50% F[S]=6% Nali=152 P909S Neutral 2 0.400 PANTHER: F[P]=15% F[S]=3% P909S Neutral 7 0.163 SNPs&GO N911D Neutral 0 0.498 PhD-SNP: F[N]=39% F[D]=2% Nali=148 N911D Neutral 3 0.326 PANTHER: F[N]=13% F[D]=4% N911D Neutral 6 0.190 SNPs&GO N911H Neutral 4 0.276 PhD-SNP: F[N]=39% F[H]=21% Nali=148 N911H Neutral 4 0.280 PANTHER: F[N]=13% F[H]=5% N911H Neutral 9 0.069 SNPs&GO M914I Neutral 0 0.485 PhD-SNP: F[M]=38% F[I]=2% Nali=126 M914I Neutral 6 0.198 PANTHER: F[M]=17% F[I]=10% M914I Neutral 6 0.179 SNPs&GO P916H Disease 2 0.611 PhD-SNP: F[P]=53% F[H]=0% Nali=122 P916H Disease 1 0.555 PANTHER: F[P]=14% F[H]=1% P916H Neutral 5 0.244 SNPs&GO G934D Disease 4 0.698 PhD-SNP: F[G]=61% F[D]=8% Nali=107 G934D Disease 3 0.642 PANTHER: F[G]=17% F[D]=1% G934D Disease 1 0.525 SNPs&GO G934S Neutral 3 0.373 PhD-SNP: F[G]=61% F[S]=19% Nali=107 G934S Neutral 3 0.366 PANTHER: F[G]=17% F[S]=3% G934S Neutral 6 0.198 SNPs&GO S937F Disease 4 0.711 PhD-SNP: F[S]=59% F[F]=0% Nali=108 S937F Disease 2 0.583 PANTHER: F[S]=18% F[F]=1% S937F Disease 0 0.503 SNPs&GO S945F Disease 4 0.703 PhD-SNP: F[S]=34% F[F]=0% Nali=111 S945F Neutral 1 0.431 PANTHER: F[S]=8% F[F]=1% S945F Neutral 1 0.427 SNPs&GO G946V Disease 6 0.814 PhD-SNP: F[G]=57% F[V]=0% Nali=112 G946V Disease 1 0.545 PANTHER: F[G]=21% F[V]=2% G946V Disease 3 0.656 SNPs&GO R948G Disease 6 0.806 PhD-SNP: F[R]=65% F[G]=2% Nali=111 R948G Disease 0 0.501 PANTHER: F[R]=18% F[G]=2% R948G Neutral 1 0.467 SNPs&GO A950V Disease 2 0.587 PhD-SNP: F[A]=54% F[V]=1% Nali=111 A950V Neutral 1 0.429 PANTHER: F[A]=21% F[V]=3% A950V Neutral 4 0.281 SNPs&GO R955G Disease 4 0.695 PhD-SNP: F[R]=52% F[G]=0% Nali=121 R955G Disease 0 0.512 PANTHER: F[R]=16% F[G]=1% R955G Neutral 2 0.407 SNPs&GO D956Y Disease 8 0.875 PhD-SNP: F[D]=69% F[Y]=0% Nali=117 D956Y Neutral 3 0.368 PANTHER: F[D]=27% F[Y]=5% D956Y Neutral 2 0.397 SNPs&GO D964N Disease 4 0.709 PhD-SNP: F[D]=57% F[N]=3% Nali=150 D964N Neutral 4 0.303 PANTHER: F[D]=15% F[N]=4% D964N Neutral 5 0.261 SNPs&GO R967C Disease 4 0.675 PhD-SNP: F[R]=37% F[C]=2% Nali=154 R967C Disease 5 0.741 PANTHER: F[R]=15% F[C]=0% R967C Neutral 1 0.440 SNPs&GO R967H Disease 0 0.508 PhD-SNP: F[R]=37% F[H]=1% Nali=154 R967H Neutral 1 0.446 PANTHER: F[R]=15% F[H]=2% R967H Neutral 5 0.261 SNPs&GO R967L Disease 4 0.683 PhD-SNP: F[R]=37% F[L]=3% Nali=154 R967L Neutral 2 0.384 PANTHER: F[R]=15% F[L]=2% R967L Neutral 2 0.382 SNPs&GO E974V Disease 4 0.684 PhD-SNP: F[E]=34% F[V]=1% Nali=387 E974V Disease 1 0.531 PANTHER: F[E]=20% F[V]=2% E974V Neutral 1 0.446 SNPs&GO T983A Neutral 2 0.392 PhD-SNP: F[T]=20% F[A]=3% Nali=437 T983A Neutral 5 0.273 PANTHER: F[T]=15% F[A]=5% T983A Neutral 5 0.270 SNPs&GO P984L Disease 7 0.850 PhD-SNP: F[P]=66% F[L]=0% Nali=445 P984L Disease 4 0.679 PANTHER: F[P]=43% F[L]=2% P984L Disease 4 0.710 SNPs&GO P984R Disease 7 0.857 PhD-SNP: F[P]=66% F[R]=1% Nali=445 P984R Disease 5 0.730 PANTHER: F[P]=43% F[R]=1% P984R Disease 5 0.751 SNPs&GO H986N Neutral 2 0.422 PhD-SNP: F[H]=15% F[N]=2% Nali=448 H986N Neutral 3 0.335 PANTHER: F[H]=16% F[N]=4% H986N Neutral 4 0.285 SNPs&GO H986Q Neutral 6 0.210 PhD-SNP: F[H]=15% F[Q]=12% Nali=448 H986Q Neutral 4 0.317 PANTHER: F[H]=16% F[Q]=4% H986Q Neutral 7 0.161 SNPs&GO H986Y Neutral 2 0.414 PhD-SNP: F[H]=15% F[Y]=1% Nali=448 H986Y Disease 3 0.633 PANTHER: F[H]=16% F[Y]=1% H986Y Neutral 1 0.474 SNPs&GO L988F Disease 2 0.577 PhD-SNP: F[L]=17% F[F]=2% Nali=448 L988F Neutral 0 0.500 PANTHER: F[L]=20% F[F]=2% L988F Neutral 3 0.372 SNPs&GO L991P Disease 8 0.897 PhD-SNP: F[L]=16% F[P]=0% Nali=450 L991P Disease 2 0.595 PANTHER: F[L]=18% F[P]=1% L991P Disease 6 0.776 SNPs&GO C994W Disease 4 0.715 PhD-SNP: F[C]=2% F[W]=0% Nali=443 C994W Disease 1 0.533 PANTHER: F[C]=3% F[W]=0% C994W Neutral 0 0.487 SNPs&GO R995L Disease 6 0.786 PhD-SNP: F[R]=22% F[L]=0% Nali=459 R995L Neutral 2 0.419 PANTHER: F[R]=14% F[L]=2% R995L Neutral 0 0.494 SNPs&GO R995W Disease 5 0.745 PhD-SNP: F[R]=22% F[W]=0% Nali=459 R995W Disease 7 0.828 PANTHER: F[R]=14% F[W]=0% R995W Disease 0 0.503 SNPs&GO G996D Disease 5 0.769 PhD-SNP: F[G]=49% F[D]=9% Nali=463 G996D Neutral 2 0.381 PANTHER: F[G]=23% F[D]=4% G996D Neutral 1 0.456 SNPs&GO G996S Disease 4 0.687 PhD-SNP: F[G]=49% F[S]=4% Nali=463 G996S Neutral 5 0.247 PANTHER: F[G]=23% F[S]=9% G996S Neutral 4 0.294 SNPs&GO T1003I Disease 7 0.837 PhD-SNP: F[T]=70% F[I]=0% Nali=502 T1003I Disease 4 0.720 PANTHER: F[T]=41% F[I]=1% T1003I Disease 2 0.604 SNPs&GO C1004W Disease 3 0.634 PhD-SNP: F[C]=12% F[W]=27% Nali=501 C1004W Neutral 7 0.140 PANTHER: F[C]=23% F[W]=29% C1004W Neutral 8 0.113 SNPs&GO Q1006H Disease 0 0.523 PhD-SNP: F[Q]=30% F[H]=0% Nali=510 Q1006H Neutral 6 0.203 PANTHER: F[Q]=13% F[H]=6% Q1006H Neutral 8 0.116 SNPs&GO Q1006L Disease 3 0.666 PhD-SNP: F[Q]=30% F[L]=1% Nali=510 Q1006L Neutral 3 0.359 PANTHER: F[Q]=13% F[L]=2% Q1006L Neutral 4 0.308 SNPs&GO L1007V Disease 3 0.664 PhD-SNP: F[L]=75% F[V]=7% Nali=517 L1007V Neutral 2 0.418 PANTHER: F[L]=30% F[V]=4% L1007V Neutral 3 0.350 SNPs&GO H1008Y Disease 0 0.515 PhD-SNP: F[H]=18% F[Y]=8% Nali=518 H1008Y Neutral 3 0.345 PANTHER: F[H]=13% F[Y]=2% H1008Y Neutral 5 0.234 SNPs&GO K1009N Neutral 4 0.283 PhD-SNP: F[K]=14% F[N]=1% Nali=518 K1009N Neutral 1 0.437 PANTHER: F[K]=28% F[N]=3% K1009N Neutral 6 0.191 SNPs&GO A1015T Disease 7 0.836 PhD-SNP: F[A]=83% F[T]=1% Nali=522 A1015T Neutral 1 0.455 PANTHER: F[A]=31% F[T]=4% A1015T Disease 1 0.533 SNPs&GO V1030M Disease 4 0.719 PhD-SNP: F[V]=61% F[M]=2% Nali=547 V1030M Disease 4 0.698 PANTHER: F[V]=44% F[M]=2% V1030M Disease 1 0.559 SNPs&GO A1031S Disease 3 0.644 PhD-SNP: F[A]=35% F[S]=0% Nali=546 A1031S Neutral 2 0.425 PANTHER: F[A]=17% F[S]=2% A1031S Neutral 2 0.421 SNPs&GO V1033A Disease 0 0.505 PhD-SNP: F[V]=17% F[A]=3% Nali=548 V1033A Neutral 4 0.323 PANTHER: F[V]=14% F[A]=3% V1033A Neutral 5 0.259 SNPs&GO P1035L Disease 8 0.894 PhD-SNP: F[P]=61% F[L]=1% Nali=549 P1035L Neutral 6 0.196 PANTHER: F[P]=15% F[L]=8% P1035L Neutral 3 0.360 SNPs&GO P1035S Disease 6 0.796 PhD-SNP: F[P]=61% F[S]=4% Nali=549 P1035S Neutral 4 0.286 PANTHER: F[P]=15% F[S]=5% P1035S Neutral 4 0.320 SNPs&GO P1035T Disease 5 0.734 PhD-SNP: F[P]=61% F[T]=7% Nali=549 P1035T Neutral 7 0.161 PANTHER: F[P]=15% F[T]=11% P1035T Neutral 7 0.148 SNPs&GO P1036L Disease 6 0.821 PhD-SNP: F[P]=36% F[L]=1% Nali=549 P1036L Disease 2 0.595 PANTHER: F[P]=20% F[L]=1% P1036L Disease 4 0.682 SNPs&GO I1038K Disease 7 0.869 PhD-SNP: F[I]=16% F[K]=0% Nali=546 I1038K Disease 4 0.683 PANTHER: F[I]=26% F[K]=1% I1038K Disease 8 0.896 SNPs&GO D1039N Disease 8 0.879 PhD-SNP: F[D]=49% F[N]=1% Nali=547 D1039N Disease 0 0.511 PANTHER: F[D]=34% F[N]=3% D1039N Disease 4 0.691 SNPs&GO L1040V Disease 3 0.649 PhD-SNP: F[L]=12% F[V]=1% Nali=546 L1040V Neutral 3 0.373 PANTHER: F[L]=27% F[V]=5% L1040V Neutral 4 0.317 SNPs&GO A1043V Disease 8 0.884 PhD-SNP: F[A]=69% F[V]=1% Nali=548 A1043V Neutral 1 0.467 PANTHER: F[A]=28% F[V]=3% A1043V Disease 2 0.578 SNPs&GO Y1045C Disease 7 0.842 PhD-SNP: F[Y]=17% F[C]=2% Nali=547 Y1045C Disease 4 0.698 PANTHER: F[Y]=22% F[C]=1% Y1045C Disease 5 0.732 SNPs&GO L1048V Disease 5 0.763 PhD-SNP: F[L]=63% F[V]=4% Nali=547 L1048V Neutral 4 0.303 PANTHER: F[L]=44% F[V]=12% L1048V Neutral 4 0.288 SNPs&GO G1051R Disease 9 0.930 PhD-SNP: F[G]=90% F[R]=3% Nali=548 G1051R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G1051R Disease 6 0.823 SNPs&GO I1055K Disease 7 0.873 PhD-SNP: F[I]=17% F[K]=0% Nali=541 I1055K Unclassified NA NA PANTHER: F[I]=NA F[K]=NA I1055K Disease 2 0.578 SNPs&GO T1056I Disease 2 0.593 PhD-SNP: F[T]=10% F[I]=0% Nali=514 T1056I Unclassified NA NA PANTHER: F[T]=NA F[I]=NA T1056I Neutral 5 0.269 SNPs&GO V1057A Neutral 6 0.197 PhD-SNP: F[V]=27% F[A]=22% Nali=514 V1057A Neutral 2 0.392 PANTHER: F[V]=27% F[A]=5% V1057A Neutral 7 0.143 SNPs&GO R1058C Disease 4 0.683 PhD-SNP: F[R]=12% F[C]=0% Nali=469 R1058C Disease 3 0.670 PANTHER: F[R]=15% F[C]=0% R1058C Disease 0 0.508 SNPs&GO R1058H Neutral 2 0.403 PhD-SNP: F[R]=12% F[H]=1% Nali=469 R1058H Disease 0 0.503 PANTHER: F[R]=15% F[H]=1% R1058H Neutral 4 0.281 SNPs&GO P1059L Disease 3 0.654 PhD-SNP: F[P]=69% F[L]=6% Nali=477 P1059L Disease 1 0.540 PANTHER: F[P]=47% F[L]=4% P1059L Neutral 0 0.484 SNPs&GO P1060L Disease 6 0.802 PhD-SNP: F[P]=83% F[L]=2% Nali=501 P1060L Neutral 5 0.263 PANTHER: F[P]=31% F[L]=11% P1060L Neutral 3 0.329 SNPs&GO P1060Q Disease 7 0.866 PhD-SNP: F[P]=83% F[Q]=0% Nali=501 P1060Q Disease 2 0.621 PANTHER: F[P]=31% F[Q]=2% P1060Q Disease 3 0.664 SNPs&GO P1060S Disease 6 0.803 PhD-SNP: F[P]=83% F[S]=1% Nali=501 P1060S Neutral 0 0.496 PANTHER: F[P]=31% F[S]=3% P1060S Disease 0 0.520 SNPs&GO H1061P Disease 3 0.660 PhD-SNP: F[H]=21% F[P]=1% Nali=494 H1061P Neutral 0 0.500 PANTHER: F[H]=13% F[P]=1% H1061P Disease 0 0.517 SNPs&GO H1061Y Neutral 4 0.313 PhD-SNP: F[H]=21% F[Y]=2% Nali=494 H1061Y Neutral 0 0.475 PANTHER: F[H]=13% F[Y]=1% H1061Y Neutral 6 0.217 SNPs&GO T1067M Neutral 7 0.167 PhD-SNP: F[T]=13% F[M]=0% Nali=500 T1067M Disease 4 0.680 PANTHER: F[T]=18% F[M]=0% T1067M Neutral 6 0.216 SNPs&GO P1070L Neutral 4 0.312 PhD-SNP: F[P]=29% F[L]=2% Nali=499 P1070L Neutral 5 0.273 PANTHER: F[P]=21% F[L]=7% P1070L Neutral 7 0.142 SNPs&GO P1070T Neutral 5 0.242 PhD-SNP: F[P]=29% F[T]=2% Nali=499 P1070T Neutral 2 0.392 PANTHER: F[P]=21% F[T]=4% P1070T Neutral 7 0.133 SNPs&GO K1073E Neutral 2 0.409 PhD-SNP: F[K]=13% F[E]=6% Nali=491 K1073E Neutral 5 0.245 PANTHER: F[K]=12% F[E]=5% K1073E Neutral 5 0.248 SNPs&GO M1074I Neutral 6 0.206 PhD-SNP: F[M]=12% F[I]=8% Nali=487 M1074I Neutral 2 0.403 PANTHER: F[M]=15% F[I]=2% M1074I Neutral 7 0.173 SNPs&GO I1075T Disease 3 0.630 PhD-SNP: F[I]=49% F[T]=4% Nali=520 I1075T Disease 2 0.575 PANTHER: F[I]=35% F[T]=2% I1075T Disease 0 0.515 SNPs&GO E1077V Neutral 3 0.370 PhD-SNP: F[E]=13% F[V]=4% Nali=536 E1077V Neutral 0 0.476 PANTHER: F[E]=17% F[V]=2% E1077V Neutral 6 0.220 SNPs&GO S1079I Disease 0 0.514 PhD-SNP: F[S]=26% F[I]=1% Nali=531 S1079I Disease 1 0.534 PANTHER: F[S]=20% F[I]=2% S1079I Neutral 3 0.329 SNPs&GO S1079N Neutral 4 0.316 PhD-SNP: F[S]=26% F[N]=1% Nali=531 S1079N Neutral 2 0.401 PANTHER: F[S]=20% F[N]=3% S1079N Neutral 7 0.150 SNPs&GO R1080C Disease 1 0.562 PhD-SNP: F[R]=16% F[C]=0% Nali=531 R1080C Disease 4 0.714 PANTHER: F[R]=9% F[C]=0% R1080C Neutral 3 0.342 SNPs&GO R1080L Neutral 0 0.498 PhD-SNP: F[R]=16% F[L]=2% Nali=531 R1080L Neutral 3 0.347 PANTHER: F[R]=9% F[L]=2% R1080L Neutral 5 0.244 SNPs&GO T1086M Disease 4 0.677 PhD-SNP: F[T]=59% F[M]=1% Nali=524 T1086M Neutral 0 0.486 PANTHER: F[T]=13% F[M]=1% T1086M Neutral 5 0.226 SNPs&GO C1091G Neutral 2 0.413 PhD-SNP: F[C]=6% F[G]=6% Nali=494 C1091G Neutral 6 0.200 PANTHER: F[C]=3% F[G]=6% C1091G Neutral 7 0.127 SNPs&GO C1091R Neutral 2 0.415 PhD-SNP: F[C]=6% F[R]=7% Nali=494 C1091R Neutral 7 0.139 PANTHER: F[C]=3% F[R]=3% C1091R Neutral 7 0.137 SNPs&GO C1091W Disease 2 0.588 PhD-SNP: F[C]=6% F[W]=1% Nali=494 C1091W Neutral 1 0.457 PANTHER: F[C]=3% F[W]=0% C1091W Neutral 4 0.281 SNPs&GO L1093S Disease 2 0.584 PhD-SNP: F[L]=36% F[S]=2% Nali=515 L1093S Neutral 6 0.223 PANTHER: F[L]=36% F[S]=17% L1093S Neutral 7 0.143 SNPs&GO R1095G Disease 2 0.611 PhD-SNP: F[R]=25% F[G]=5% Nali=499 R1095G Disease 1 0.544 PANTHER: F[R]=19% F[G]=1% R1095G Neutral 2 0.415 SNPs&GO R1095L Disease 4 0.707 PhD-SNP: F[R]=25% F[L]=1% Nali=499 R1095L Disease 0 0.523 PANTHER: F[R]=19% F[L]=2% R1095L Disease 1 0.560 SNPs&GO R1095W Disease 4 0.721 PhD-SNP: F[R]=25% F[W]=0% Nali=499 R1095W Disease 7 0.872 PANTHER: F[R]=19% F[W]=0% R1095W Disease 2 0.593 SNPs&GO S1096F Neutral 0 0.494 PhD-SNP: F[S]=25% F[F]=1% Nali=503 S1096F Disease 6 0.809 PANTHER: F[S]=31% F[F]=0% S1096F Disease 2 0.580 SNPs&GO R1097G Disease 1 0.556 PhD-SNP: F[R]=20% F[G]=4% Nali=502 R1097G Neutral 4 0.284 PANTHER: F[R]=22% F[G]=7% R1097G Neutral 6 0.211 SNPs&GO R1097M Neutral 2 0.389 PhD-SNP: F[R]=20% F[M]=1% Nali=502 R1097M Disease 4 0.723 PANTHER: F[R]=22% F[M]=0% R1097M Neutral 2 0.387 SNPs&GO A1099E Disease 2 0.577 PhD-SNP: F[A]=34% F[E]=5% Nali=513 A1099E Disease 1 0.558 PANTHER: F[A]=22% F[E]=2% A1099E Disease 1 0.549 SNPs&GO A1099V Neutral 3 0.330 PhD-SNP: F[A]=34% F[V]=7% Nali=513 A1099V Neutral 7 0.154 PANTHER: F[A]=22% F[V]=18% A1099V Neutral 9 0.061 SNPs&GO V1103G Disease 2 0.607 PhD-SNP: F[V]=22% F[G]=4% Nali=482 V1103G Disease 2 0.581 PANTHER: F[V]=21% F[G]=1% V1103G Disease 1 0.537 SNPs&GO R1106G Disease 2 0.575 PhD-SNP: F[R]=20% F[G]=2% Nali=458 R1106G Neutral 2 0.397 PANTHER: F[R]=11% F[G]=2% R1106G Neutral 2 0.403 SNPs&GO T1107M Neutral 4 0.322 PhD-SNP: F[T]=22% F[M]=1% Nali=446 T1107M Disease 1 0.545 PANTHER: F[T]=14% F[M]=1% T1107M Neutral 4 0.315 SNPs&GO W1108C Disease 7 0.834 PhD-SNP: F[W]=48% F[C]=0% Nali=430 W1108C Disease 2 0.592 PANTHER: F[W]=15% F[C]=1% W1108C Disease 3 0.671 SNPs&GO P1109R Disease 7 0.836 PhD-SNP: F[P]=66% F[R]=2% Nali=410 P1109R Disease 2 0.586 PANTHER: F[P]=43% F[R]=3% P1109R Disease 3 0.643 SNPs&GO D1115G Disease 3 0.664 PhD-SNP: F[D]=54% F[G]=3% Nali=539 D1115G Neutral 1 0.464 PANTHER: F[D]=18% F[G]=2% D1115G Neutral 4 0.278 SNPs&GO P1118A Neutral 7 0.143 PhD-SNP: F[P]=44% F[A]=10% Nali=521 P1118A Neutral 2 0.419 PANTHER: F[P]=33% F[A]=5% P1118A Neutral 9 0.065 SNPs&GO P1118L Neutral 3 0.374 PhD-SNP: F[P]=44% F[L]=4% Nali=521 P1118L Disease 0 0.513 PANTHER: F[P]=33% F[L]=3% P1118L Neutral 6 0.218 SNPs&GO P1118T Neutral 5 0.273 PhD-SNP: F[P]=44% F[T]=2% Nali=521 P1118T Neutral 4 0.301 PANTHER: F[P]=33% F[T]=10% P1118T Neutral 9 0.059 SNPs&GO P1131Q Disease 1 0.539 PhD-SNP: F[P]=44% F[Q]=3% Nali=518 P1131Q Neutral 7 0.175 PANTHER: F[P]=12% F[Q]=8% P1131Q Neutral 8 0.100 SNPs&GO L1134F Disease 3 0.642 PhD-SNP: F[L]=42% F[F]=0% Nali=520 L1134F Neutral 2 0.384 PANTHER: F[L]=17% F[F]=3% L1134F Neutral 5 0.229 SNPs&GO A1135E Disease 8 0.893 PhD-SNP: F[A]=82% F[E]=0% Nali=540 A1135E Disease 3 0.631 PANTHER: F[A]=35% F[E]=2% A1135E Disease 4 0.703 SNPs&GO A1135G Disease 6 0.822 PhD-SNP: F[A]=82% F[G]=1% Nali=540 A1135G Disease 2 0.599 PANTHER: F[A]=35% F[G]=2% A1135G Neutral 0 0.479 SNPs&GO A1135T Disease 7 0.850 PhD-SNP: F[A]=82% F[T]=0% Nali=540 A1135T Neutral 5 0.260 PANTHER: F[A]=35% F[T]=11% A1135T Neutral 3 0.350 SNPs&GO A1135V Disease 5 0.742 PhD-SNP: F[A]=82% F[V]=4% Nali=540 A1135V Neutral 2 0.401 PANTHER: F[A]=35% F[V]=5% A1135V Neutral 4 0.320 SNPs&GO D1138E Disease 1 0.558 PhD-SNP: F[D]=11% F[E]=6% Nali=549 D1138E Neutral 5 0.256 PANTHER: F[D]=20% F[E]=6% D1138E Neutral 5 0.231 SNPs&GO D1138N Disease 2 0.625 PhD-SNP: F[D]=11% F[N]=2% Nali=549 D1138N Neutral 3 0.347 PANTHER: F[D]=20% F[N]=3% D1138N Neutral 4 0.310 SNPs&GO S1140I Disease 7 0.842 PhD-SNP: F[S]=21% F[I]=0% Nali=551 S1140I Neutral 3 0.374 PANTHER: F[S]=23% F[I]=3% S1140I Disease 1 0.528 SNPs&GO S1140N Disease 6 0.789 PhD-SNP: F[S]=21% F[N]=1% Nali=551 S1140N Neutral 6 0.218 PANTHER: F[S]=23% F[N]=8% S1140N Neutral 4 0.306 SNPs&GO V1141G Disease 7 0.842 PhD-SNP: F[V]=11% F[G]=0% Nali=548 V1141G Disease 2 0.586 PANTHER: F[V]=30% F[G]=1% V1141G Disease 6 0.790 SNPs&GO V1141M Disease 3 0.654 PhD-SNP: F[V]=11% F[M]=1% Nali=548 V1141M Neutral 1 0.465 PANTHER: F[V]=30% F[M]=3% V1141M Neutral 1 0.455 SNPs&GO T1143A Disease 3 0.674 PhD-SNP: F[T]=14% F[A]=2% Nali=555 T1143A Neutral 3 0.341 PANTHER: F[T]=25% F[A]=5% T1143A Neutral 0 0.483 SNPs&GO T1143I Disease 7 0.843 PhD-SNP: F[T]=14% F[I]=1% Nali=555 T1143I Disease 2 0.600 PANTHER: F[T]=25% F[I]=1% T1143I Disease 5 0.744 SNPs&GO G1145V Disease 7 0.842 PhD-SNP: F[G]=51% F[V]=1% Nali=555 G1145V Neutral 2 0.410 PANTHER: F[G]=27% F[V]=4% G1145V Disease 3 0.627 SNPs&GO L1147V Disease 3 0.649 PhD-SNP: F[L]=15% F[V]=2% Nali=555 L1147V Neutral 5 0.240 PANTHER: F[L]=39% F[V]=16% L1147V Neutral 6 0.213 SNPs&GO S1153P Disease 9 0.928 PhD-SNP: F[S]=47% F[P]=0% Nali=559 S1153P Disease 3 0.643 PANTHER: F[S]=25% F[P]=1% S1153P Disease 7 0.845 SNPs&GO S1153Y Disease 8 0.894 PhD-SNP: F[S]=47% F[Y]=0% Nali=559 S1153Y Disease 5 0.732 PANTHER: F[S]=25% F[Y]=0% S1153Y Disease 5 0.762 SNPs&GO H1154D Disease 9 0.929 PhD-SNP: F[H]=89% F[D]=0% Nali=559 H1154D Neutral 0 0.488 PANTHER: F[H]=40% F[D]=4% H1154D Disease 6 0.792 SNPs&GO H1154Y Disease 8 0.914 PhD-SNP: F[H]=89% F[Y]=1% Nali=559 H1154Y Disease 6 0.823 PANTHER: F[H]=40% F[Y]=0% H1154Y Disease 7 0.845 SNPs&GO A1156T Disease 1 0.549 PhD-SNP: F[A]=20% F[T]=6% Nali=521 A1156T Neutral 6 0.206 PANTHER: F[A]=15% F[T]=8% A1156T Neutral 6 0.186 SNPs&GO A1159V Disease 2 0.589 PhD-SNP: F[A]=41% F[V]=2% Nali=549 A1159V Neutral 0 0.479 PANTHER: F[A]=20% F[V]=2% A1159V Neutral 4 0.315 SNPs&GO S1163C Neutral 1 0.469 PhD-SNP: F[S]=14% F[C]=1% Nali=553 S1163C Disease 3 0.650 PANTHER: F[S]=17% F[C]=1% S1163C Neutral 4 0.276 SNPs&GO S1163F Neutral 0 0.490 PhD-SNP: F[S]=14% F[F]=2% Nali=553 S1163F Neutral 1 0.470 PANTHER: F[S]=17% F[F]=2% S1163F Neutral 5 0.255 SNPs&GO Q1167H Neutral 5 0.232 PhD-SNP: F[Q]=13% F[H]=2% Nali=550 Q1167H Neutral 0 0.481 PANTHER: F[Q]=13% F[H]=1% Q1167H Neutral 7 0.129 SNPs&GO S1173C Neutral 1 0.452 PhD-SNP: F[S]=25% F[C]=0% Nali=556 S1173C Disease 7 0.851 PANTHER: F[S]=24% F[C]=0% S1173C Neutral 3 0.351 SNPs&GO S1173F Neutral 0 0.487 PhD-SNP: F[S]=25% F[F]=0% Nali=556 S1173F Disease 5 0.760 PANTHER: F[S]=24% F[F]=0% S1173F Neutral 1 0.430 SNPs&GO I1178T Neutral 2 0.422 PhD-SNP: F[I]=15% F[T]=7% Nali=546 I1178T Neutral 2 0.404 PANTHER: F[I]=22% F[T]=4% I1178T Neutral 4 0.292 SNPs&GO G1185E Disease 7 0.869 PhD-SNP: F[G]=22% F[E]=0% Nali=563 G1185E Disease 3 0.674 PANTHER: F[G]=42% F[E]=2% G1185E Disease 5 0.773 SNPs&GO L1186V Disease 2 0.586 PhD-SNP: F[L]=20% F[V]=2% Nali=565 L1186V Disease 1 0.564 PANTHER: F[L]=57% F[V]=4% L1186V Neutral 1 0.465 SNPs&GO V1196A Disease 4 0.684 PhD-SNP: F[V]=31% F[A]=1% Nali=569 V1196A Disease 2 0.617 PANTHER: F[V]=44% F[A]=3% V1196A Disease 3 0.637 SNPs&GO Y1197N Disease 7 0.827 PhD-SNP: F[Y]=53% F[N]=0% Nali=567 Y1197N Disease 7 0.858 PANTHER: F[Y]=57% F[N]=0% Y1197N Disease 4 0.712 SNPs&GO R1300S Disease 3 0.646 PhD-SNP: F[R]=14% F[S]=2% Nali=457 R1300S Neutral 3 0.325 PANTHER: F[R]=19% F[S]=5% R1300S Neutral 3 0.352 SNPs&GO R1300T Disease 2 0.585 PhD-SNP: F[R]=14% F[T]=1% Nali=457 R1300T Neutral 3 0.365 PANTHER: F[R]=19% F[T]=4% R1300T Neutral 3 0.339 SNPs&GO R1300W Disease 6 0.789 PhD-SNP: F[R]=14% F[W]=0% Nali=457 R1300W Disease 7 0.837 PANTHER: F[R]=19% F[W]=0% R1300W Disease 2 0.615 SNPs&GO V1301M Disease 0 0.514 PhD-SNP: F[V]=13% F[M]=1% Nali=512 V1301M Neutral 4 0.285 PANTHER: F[V]=28% F[M]=9% V1301M Neutral 6 0.178 SNPs&GO A1304V Neutral 3 0.350 PhD-SNP: F[A]=27% F[V]=10% Nali=537 A1304V Neutral 3 0.346 PANTHER: F[A]=28% F[V]=6% A1304V Neutral 7 0.166 SNPs&GO C1306G Disease 3 0.667 PhD-SNP: F[C]=14% F[G]=0% Nali=537 C1306G Disease 1 0.574 PANTHER: F[C]=31% F[G]=2% C1306G Disease 4 0.679 SNPs&GO C1306R Disease 5 0.753 PhD-SNP: F[C]=14% F[R]=1% Nali=537 C1306R Neutral 4 0.314 PANTHER: F[C]=31% F[R]=8% C1306R Disease 1 0.542 SNPs&GO C1306W Disease 5 0.738 PhD-SNP: F[C]=14% F[W]=1% Nali=537 C1306W Disease 8 0.914 PANTHER: F[C]=31% F[W]=0% C1306W Disease 5 0.763 SNPs&GO G1309R Disease 4 0.686 PhD-SNP: F[G]=46% F[R]=4% Nali=513 G1309R Disease 0 0.506 PANTHER: F[G]=21% F[R]=2% G1309R Disease 1 0.542 SNPs&GO T1310I Neutral 5 0.266 PhD-SNP: F[T]=17% F[I]=2% Nali=520 T1310I Neutral 2 0.393 PANTHER: F[T]=12% F[I]=2% T1310I Neutral 7 0.166 SNPs&GO P1313L Neutral 1 0.425 PhD-SNP: F[P]=27% F[L]=1% Nali=510 P1313L Neutral 7 0.136 PANTHER: F[P]=13% F[L]=12% P1313L Neutral 8 0.093 SNPs&GO R1331C Disease 3 0.647 PhD-SNP: F[R]=23% F[C]=2% Nali=500 R1331C Disease 6 0.787 PANTHER: F[R]=17% F[C]=0% R1331C Neutral 1 0.439 SNPs&GO R1331H Neutral 0 0.499 PhD-SNP: F[R]=23% F[H]=0% Nali=500 R1331H Neutral 0 0.494 PANTHER: F[R]=17% F[H]=2% R1331H Neutral 5 0.258 SNPs&GO S1337P Disease 2 0.580 PhD-SNP: F[S]=22% F[P]=2% Nali=513 S1337P Neutral 1 0.439 PANTHER: F[S]=10% F[P]=1% S1337P Neutral 3 0.337 SNPs&GO H1339D Neutral 5 0.256 PhD-SNP: F[H]=14% F[D]=10% Nali=502 H1339D Neutral 4 0.318 PANTHER: F[H]=14% F[D]=3% H1339D Neutral 7 0.174 SNPs&GO S1346L Disease 3 0.627 PhD-SNP: F[S]=32% F[L]=2% Nali=522 S1346L Disease 7 0.847 PANTHER: F[S]=59% F[L]=1% S1346L Disease 6 0.785 SNPs&GO S1346P Disease 6 0.824 PhD-SNP: F[S]=32% F[P]=1% Nali=522 S1346P Disease 7 0.832 PANTHER: F[S]=59% F[P]=1% S1346P Disease 7 0.864 SNPs&GO G1347R Disease 8 0.901 PhD-SNP: F[G]=94% F[R]=0% Nali=517 G1347R Disease 7 0.847 PANTHER: F[G]=65% F[R]=1% G1347R Disease 7 0.838 SNPs&GO G1347V Disease 8 0.922 PhD-SNP: F[G]=94% F[V]=0% Nali=517 G1347V Disease 8 0.883 PANTHER: F[G]=65% F[V]=0% G1347V Disease 7 0.862 SNPs&GO K1348M Neutral 6 0.212 PhD-SNP: F[K]=16% F[M]=8% Nali=512 K1348M Neutral 6 0.208 PANTHER: F[K]=17% F[M]=9% K1348M Neutral 9 0.033 SNPs&GO L1350V Neutral 4 0.310 PhD-SNP: F[L]=27% F[V]=12% Nali=514 L1350V Neutral 3 0.343 PANTHER: F[L]=22% F[V]=5% L1350V Neutral 7 0.126 SNPs&GO P1351A Neutral 4 0.307 PhD-SNP: F[P]=40% F[A]=8% Nali=527 P1351A Neutral 4 0.314 PANTHER: F[P]=17% F[A]=4% P1351A Neutral 8 0.113 SNPs&GO P1351L Disease 1 0.564 PhD-SNP: F[P]=40% F[L]=5% Nali=527 P1351L Neutral 7 0.155 PANTHER: F[P]=17% F[L]=13% P1351L Neutral 7 0.152 SNPs&GO P1351Q Disease 1 0.546 PhD-SNP: F[P]=40% F[Q]=2% Nali=527 P1351Q Disease 1 0.555 PANTHER: F[P]=17% F[Q]=1% P1351Q Neutral 3 0.371 SNPs&GO P1351R Disease 2 0.608 PhD-SNP: F[P]=40% F[R]=6% Nali=527 P1351R Disease 1 0.539 PANTHER: F[P]=17% F[R]=1% P1351R Neutral 2 0.390 SNPs&GO P1351T Neutral 1 0.446 PhD-SNP: F[P]=40% F[T]=2% Nali=527 P1351T Neutral 3 0.361 PANTHER: F[P]=17% F[T]=3% P1351T Neutral 7 0.166 SNPs&GO V1353A Neutral 3 0.358 PhD-SNP: F[V]=25% F[A]=4% Nali=539 V1353A Neutral 3 0.365 PANTHER: F[V]=23% F[A]=5% V1353A Neutral 6 0.213 SNPs&GO R1354G Disease 1 0.533 PhD-SNP: F[R]=22% F[G]=1% Nali=539 R1354G Neutral 4 0.297 PANTHER: F[R]=8% F[G]=2% R1354G Neutral 7 0.166 SNPs&GO R1354W Disease 2 0.590 PhD-SNP: F[R]=22% F[W]=5% Nali=539 R1354W Disease 5 0.743 PANTHER: F[R]=8% F[W]=0% R1354W Neutral 4 0.323 SNPs&GO I1357M Disease 6 0.820 PhD-SNP: F[I]=74% F[M]=1% Nali=519 I1357M Disease 5 0.745 PANTHER: F[I]=50% F[M]=1% I1357M Disease 4 0.724 SNPs&GO I1357T Disease 8 0.902 PhD-SNP: F[I]=74% F[T]=0% Nali=519 I1357T Neutral 2 0.416 PANTHER: F[I]=50% F[T]=8% I1357T Disease 4 0.698 SNPs&GO G1364E Neutral 2 0.405 PhD-SNP: F[G]=14% F[E]=10% Nali=523 G1364E Neutral 6 0.203 PANTHER: F[G]=16% F[E]=8% G1364E Neutral 6 0.206 SNPs&GO L1366P Disease 8 0.894 PhD-SNP: F[L]=33% F[P]=1% Nali=533 L1366P Disease 2 0.601 PANTHER: F[L]=15% F[P]=1% L1366P Disease 5 0.736 SNPs&GO G1367E Disease 2 0.619 PhD-SNP: F[G]=21% F[E]=5% Nali=533 G1367E Neutral 5 0.240 PANTHER: F[G]=13% F[E]=5% G1367E Neutral 2 0.380 SNPs&GO E1373D Disease 6 0.824 PhD-SNP: F[E]=89% F[D]=1% Nali=544 E1373D Neutral 3 0.340 PANTHER: F[E]=61% F[D]=14% E1373D Disease 0 0.515 SNPs&GO E1373K Disease 8 0.904 PhD-SNP: F[E]=89% F[K]=1% Nali=544 E1373K Disease 4 0.720 PANTHER: F[E]=61% F[K]=2% E1373K Disease 7 0.858 SNPs&GO S1378C Disease 8 0.883 PhD-SNP: F[S]=28% F[C]=0% Nali=535 S1378C Disease 7 0.846 PANTHER: F[S]=51% F[C]=0% S1378C Disease 7 0.847 SNPs&GO S1378I Disease 9 0.928 PhD-SNP: F[S]=28% F[I]=0% Nali=535 S1378I Disease 7 0.848 PANTHER: F[S]=51% F[I]=0% S1378I Disease 9 0.937 SNPs&GO N1381K Disease 3 0.666 PhD-SNP: F[N]=14% F[K]=2% Nali=538 N1381K Neutral 5 0.244 PANTHER: F[N]=26% F[K]=10% N1381K Disease 0 0.512 SNPs&GO N1381S Disease 1 0.548 PhD-SNP: F[N]=14% F[S]=1% Nali=538 N1381S Neutral 2 0.381 PANTHER: F[N]=26% F[S]=5% N1381S Neutral 0 0.493 SNPs&GO G1384S Disease 7 0.840 PhD-SNP: F[G]=87% F[S]=7% Nali=536 G1384S Neutral 8 0.122 PANTHER: F[G]=20% F[S]=22% G1384S Neutral 1 0.448 SNPs&GO T1387I Neutral 1 0.442 PhD-SNP: F[T]=17% F[I]=1% Nali=326 T1387I Neutral 2 0.400 PANTHER: F[T]=23% F[I]=3% T1387I Neutral 4 0.323 SNPs&GO G1390E Disease 2 0.622 PhD-SNP: F[G]=37% F[E]=7% Nali=394 G1390E Neutral 5 0.267 PANTHER: F[G]=17% F[E]=6% G1390E Neutral 2 0.409 SNPs&GO G1390R Disease 5 0.728 PhD-SNP: F[G]=37% F[R]=3% Nali=394 G1390R Neutral 3 0.351 PANTHER: F[G]=17% F[R]=3% G1390R Neutral 0 0.479 SNPs&GO S1393F Disease 2 0.593 PhD-SNP: F[S]=13% F[F]=1% Nali=467 S1393F Neutral 5 0.228 PANTHER: F[S]=13% F[F]=6% S1393F Neutral 6 0.189 SNPs&GO H1398D Neutral 1 0.441 PhD-SNP: F[H]=15% F[D]=1% Nali=472 H1398D Neutral 4 0.298 PANTHER: F[H]=12% F[D]=3% H1398D Neutral 5 0.259 SNPs&GO H1398L Neutral 2 0.388 PhD-SNP: F[H]=15% F[L]=3% Nali=472 H1398L Neutral 4 0.324 PANTHER: F[H]=12% F[L]=3% H1398L Neutral 6 0.214 SNPs&GO A1413T Disease 1 0.539 PhD-SNP: F[A]=12% F[T]=2% Nali=495 A1413T Neutral 2 0.378 PANTHER: F[A]=21% F[T]=4% A1413T Neutral 3 0.359 SNPs&GO R1414C Disease 9 0.952 PhD-SNP: F[R]=84% F[C]=0% Nali=523 R1414C Disease 9 0.943 PANTHER: F[R]=65% F[C]=0% R1414C Disease 8 0.896 SNPs&GO R1414G Disease 8 0.905 PhD-SNP: F[R]=84% F[G]=1% Nali=523 R1414G Disease 7 0.825 PANTHER: F[R]=65% F[G]=1% R1414G Disease 6 0.820 SNPs&GO R1414H Disease 8 0.912 PhD-SNP: F[R]=84% F[H]=0% Nali=523 R1414H Disease 7 0.858 PANTHER: F[R]=65% F[H]=0% R1414H Disease 7 0.852 SNPs&GO R1414L Disease 9 0.965 PhD-SNP: F[R]=84% F[L]=0% Nali=523 R1414L Disease 7 0.833 PANTHER: F[R]=65% F[L]=1% R1414L Disease 8 0.920 SNPs&GO R1414S Disease 8 0.917 PhD-SNP: F[R]=84% F[S]=0% Nali=523 R1414S Disease 5 0.766 PANTHER: F[R]=65% F[S]=1% R1414S Disease 7 0.854 SNPs&GO G1416A Disease 7 0.829 PhD-SNP: F[G]=99% F[A]=0% Nali=526 G1416A Disease 7 0.871 PANTHER: F[G]=92% F[A]=1% G1416A Disease 6 0.802 SNPs&GO Y1417C Disease 7 0.866 PhD-SNP: F[Y]=10% F[C]=0% Nali=526 Y1417C Disease 7 0.856 PANTHER: F[Y]=20% F[C]=0% Y1417C Disease 5 0.768 SNPs&GO G1431E Disease 8 0.891 PhD-SNP: F[G]=89% F[E]=1% Nali=274 G1431E Neutral 1 0.468 PANTHER: F[G]=23% F[E]=3% G1431E Disease 4 0.722 SNPs&GO R1433C Disease 5 0.768 PhD-SNP: F[R]=34% F[C]=0% Nali=172 R1433C Disease 5 0.763 PANTHER: F[R]=17% F[C]=0% R1433C Disease 4 0.694 SNPs&GO D1435H Disease 7 0.871 PhD-SNP: F[D]=67% F[H]=0% Nali=182 D1435H Disease 3 0.640 PANTHER: F[D]=25% F[H]=1% D1435H Disease 3 0.631 SNPs&GO D1444G Disease 5 0.771 PhD-SNP: F[D]=11% F[G]=6% Nali=526 D1444G Neutral 6 0.190 PANTHER: F[D]=17% F[G]=10% D1444G Neutral 5 0.231 SNPs&GO D1444H Disease 4 0.686 PhD-SNP: F[D]=11% F[H]=0% Nali=526 D1444H Neutral 5 0.233 PANTHER: F[D]=17% F[H]=7% D1444H Neutral 7 0.127 SNPs&GO E1445K Disease 8 0.915 PhD-SNP: F[E]=25% F[K]=0% Nali=526 E1445K Disease 1 0.573 PANTHER: F[E]=47% F[K]=3% E1445K Disease 7 0.865 SNPs&GO R1450W Disease 7 0.875 PhD-SNP: F[R]=43% F[W]=2% Nali=529 R1450W Disease 8 0.881 PANTHER: F[R]=24% F[W]=0% R1450W Disease 4 0.676 SNPs&GO R1453Q Disease 1 0.531 PhD-SNP: F[R]=12% F[Q]=1% Nali=530 R1453Q Neutral 2 0.379 PANTHER: F[R]=22% F[Q]=4% R1453Q Neutral 3 0.347 SNPs&GO R1453W Disease 6 0.819 PhD-SNP: F[R]=12% F[W]=0% Nali=530 R1453W Disease 8 0.876 PANTHER: F[R]=22% F[W]=0% R1453W Disease 4 0.701 SNPs&GO D1458N Disease 8 0.904 PhD-SNP: F[D]=91% F[N]=0% Nali=528 D1458N Disease 7 0.842 PANTHER: F[D]=86% F[N]=1% D1458N Disease 6 0.823 SNPs&GO I1459S Disease 9 0.943 PhD-SNP: F[I]=68% F[S]=0% Nali=526 I1459S Disease 6 0.778 PANTHER: F[I]=44% F[S]=1% I1459S Disease 8 0.895 SNPs&GO H1467Q Disease 4 0.697 PhD-SNP: F[H]=51% F[Q]=1% Nali=493 H1467Q Disease 6 0.781 PANTHER: F[H]=56% F[Q]=1% H1467Q Disease 5 0.762 SNPs&GO A1474V Disease 2 0.577 PhD-SNP: F[A]=62% F[V]=11% Nali=489 A1474V Neutral 4 0.291 PANTHER: F[A]=35% F[V]=9% A1474V Neutral 5 0.227 SNPs&GO W1478L Neutral 6 0.198 PhD-SNP: F[W]=12% F[L]=4% Nali=455 W1478L Neutral 2 0.392 PANTHER: F[W]=20% F[L]=3% W1478L Neutral 6 0.219 SNPs&GO L1481F Disease 1 0.535 PhD-SNP: F[L]=23% F[F]=0% Nali=455 L1481F Disease 3 0.665 PANTHER: F[L]=35% F[F]=1% L1481F Neutral 0 0.479 SNPs&GO V1484F Disease 7 0.864 PhD-SNP: F[V]=49% F[F]=3% Nali=465 V1484F Disease 4 0.702 PANTHER: F[V]=39% F[F]=1% V1484F Disease 5 0.748 SNPs&GO V1485A Disease 1 0.537 PhD-SNP: F[V]=52% F[A]=13% Nali=467 V1485A Neutral 2 0.384 PANTHER: F[V]=33% F[A]=6% V1485A Neutral 4 0.317 SNPs&GO D1489Y Disease 1 0.559 PhD-SNP: F[D]=23% F[Y]=0% Nali=465 D1489Y Disease 0 0.512 PANTHER: F[D]=11% F[Y]=1% D1489Y Neutral 6 0.224 SNPs&GO V1499A Neutral 4 0.290 PhD-SNP: F[V]=33% F[A]=11% Nali=452 V1499A Neutral 0 0.480 PANTHER: F[V]=35% F[A]=4% V1499A Neutral 5 0.245 SNPs&GO P1500L Neutral 6 0.216 PhD-SNP: F[P]=25% F[L]=0% Nali=449 P1500L Disease 6 0.794 PANTHER: F[P]=53% F[L]=1% P1500L Neutral 3 0.351 SNPs&GO L1501F Neutral 5 0.274 PhD-SNP: F[L]=18% F[F]=0% Nali=454 L1501F Disease 3 0.643 PANTHER: F[L]=32% F[F]=1% L1501F Neutral 5 0.258 SNPs&GO G1515A Neutral 5 0.236 PhD-SNP: F[G]=19% F[A]=19% Nali=453 G1515A Neutral 1 0.447 PANTHER: F[G]=24% F[A]=3% G1515A Neutral 5 0.231 SNPs&GO G1515E Disease 3 0.635 PhD-SNP: F[G]=19% F[E]=1% Nali=453 G1515E Neutral 3 0.350 PANTHER: F[G]=24% F[E]=5% G1515E Neutral 0 0.488 SNPs&GO G1515R Disease 0 0.523 PhD-SNP: F[G]=19% F[R]=4% Nali=453 G1515R Disease 2 0.579 PANTHER: F[G]=24% F[R]=1% G1515R Neutral 1 0.461 SNPs&GO V1516A Neutral 5 0.247 PhD-SNP: F[V]=20% F[A]=15% Nali=453 V1516A Disease 0 0.505 PANTHER: F[V]=33% F[A]=3% V1516A Neutral 5 0.255 SNPs&GO R1530C Disease 5 0.767 PhD-SNP: F[R]=12% F[C]=0% Nali=448 R1530C Disease 4 0.700 PANTHER: F[R]=16% F[C]=0% R1530C Disease 0 0.521 SNPs&GO R1530H Disease 2 0.591 PhD-SNP: F[R]=12% F[H]=0% Nali=448 R1530H Disease 0 0.508 PANTHER: F[R]=16% F[H]=1% R1530H Neutral 3 0.342 SNPs&GO R1530P Disease 8 0.912 PhD-SNP: F[R]=12% F[P]=0% Nali=448 R1530P Disease 1 0.540 PANTHER: F[R]=16% F[P]=1% R1530P Disease 5 0.771 SNPs&GO R1535C Disease 8 0.915 PhD-SNP: F[R]=98% F[C]=0% Nali=447 R1535C Disease 8 0.918 PANTHER: F[R]=60% F[C]=0% R1535C Disease 6 0.824 SNPs&GO H1537Q Neutral 4 0.308 PhD-SNP: F[H]=14% F[Q]=6% Nali=404 H1537Q Neutral 4 0.314 PANTHER: F[H]=18% F[Q]=5% H1537Q Neutral 6 0.184 SNPs&GO R1539Q Disease 5 0.742 PhD-SNP: F[R]=67% F[Q]=1% Nali=402 R1539Q Neutral 2 0.417 PANTHER: F[R]=19% F[Q]=3% R1539Q Neutral 2 0.381 SNPs&GO G1541V Disease 1 0.526 PhD-SNP: F[G]=26% F[V]=0% Nali=391 G1541V Neutral 3 0.358 PANTHER: F[G]=16% F[V]=3% G1541V Neutral 5 0.238 SNPs&GO G1541W Disease 3 0.675 PhD-SNP: F[G]=26% F[W]=0% Nali=391 G1541W Disease 6 0.798 PANTHER: F[G]=16% F[W]=0% G1541W Neutral 2 0.406 SNPs&GO L1543F Disease 6 0.785 PhD-SNP: F[L]=68% F[F]=1% Nali=375 L1543F Neutral 5 0.250 PANTHER: F[L]=30% F[F]=10% L1543F Neutral 5 0.227 SNPs&GO D1545G Neutral 3 0.328 PhD-SNP: F[D]=26% F[G]=49% Nali=341 D1545G Neutral 7 0.160 PANTHER: F[D]=19% F[G]=12% D1545G Neutral 8 0.114 SNPs&GO Y1551F Neutral 0 0.486 PhD-SNP: F[Y]=53% F[F]=9% Nali=128 Y1551F Neutral 0 0.483 PANTHER: F[Y]=17% F[F]=1% Y1551F Neutral 4 0.304 SNPs&GO Y1551S Disease 3 0.668 PhD-SNP: F[Y]=53% F[S]=3% Nali=128 Y1551S Neutral 4 0.290 PANTHER: F[Y]=17% F[S]=4% Y1551S Neutral 3 0.350 SNPs&GO A1553T Disease 1 0.533 PhD-SNP: F[A]=74% F[T]=1% Nali=85 A1553T Disease 1 0.526 PANTHER: F[A]=26% F[T]=2% A1553T Neutral 2 0.390 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. ** ** ** **********************************************************************************************