Cluster Information | Plasmid Cluster ID | C1268 |
Reference Plasmid | NZ_CP146093.1 | |
Reference Plasmid Size | 412450 | |
Reference Plasmid GC Content | 0.61 | |
Reference Plasmid Mobility Type | non-mobilizable |
mutid | gname | pos | count | tissue | frequnt | biotype | consequence | impact | nucchange | aachange |
---|---|---|---|---|---|---|---|---|---|---|
M0115168 | PIJCFOGG_00306 | 304231 | 50 | Skin | 0.19 | protein_coding | synonymous_variant | LOW | 768A>G | Arg256Arg |
M0115169 | PIJCFOGG_00306 | 304369 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 630T>C | Thr210Thr |
M0115170 | PIJCFOGG_00306 | 304372 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 627A>C | Ala209Ala |
M0115171 | PIJCFOGG_00306 | 304500 | 13 | Skin | 0.05 | protein_coding | synonymous_variant | LOW | 499T>C | Leu167Leu |
M0115172 | PIJCFOGG_00306 | 304516 | 35 | Skin | 0.14 | protein_coding | synonymous_variant | LOW | 483T>G | Ala161Ala |
M0115173 | PIJCFOGG_00306 | 304519 | 34 | Skin | 0.13 | protein_coding | synonymous_variant | LOW | 480C>T | Thr160Thr |
M0115174 | PIJCFOGG_00306 | 304522 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 477C>T | Gly159Gly |
M0115175 | PIJCFOGG_00306 | 304523 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 476G>A | Gly159Asp |
M0115176 | PIJCFOGG_00306 | 304531 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 468T>C | Arg156Arg |
M0115177 | PIJCFOGG_00306 | 304594 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 405T>C | Tyr135Tyr |
M0115178 | PIJCFOGG_00306 | 304606 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 393A>G | Val131Val |
M0115179 | PIJCFOGG_00297 | 295006 | 57 | Skin | 0.22 | protein_coding | missense_variant | MODERATE | 311C>A | Pro104Gln |
M0115180 | PIJCFOGG_00300 | 297392 | 69 | Skin | 0.27 | protein_coding | synonymous_variant | LOW | 306C>T | Arg102Arg |
M0115181 | PIJCFOGG_00300 | 297446 | 73 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 252C>G | Leu84Leu |
M0115182 | PIJCFOGG_00300 | 297535 | 71 | Skin | 0.28 | protein_coding | missense_variant | MODERATE | 163A>G | Thr55Ala |
M0115183 | PIJCFOGG_00300 | 297569 | 71 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 129A>G | Leu43Leu |
M0115184 | PIJCFOGG_00300 | 297574 | 69 | Skin | 0.27 | protein_coding | missense_variant | MODERATE | 124T>A | Tyr42Asn |
M0115185 | PIJCFOGG_00300 | 297599 | 69 | Skin | 0.27 | protein_coding | synonymous_variant | LOW | 99C>A | Ala33Ala |
M0115186 | PIJCFOGG_00300 | 297614 | 69 | Skin | 0.27 | protein_coding | synonymous_variant | LOW | 84G>T | Leu28Leu |
M0115187 | PIJCFOGG_00301 | 297712 | 72 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 1380C>T | Asn460Asn |
M0115188 | PIJCFOGG_00301 | 297775 | 70 | Skin | 0.27 | protein_coding | synonymous_variant | LOW | 1317C>T | Gly439Gly |
M0115189 | PIJCFOGG_00301 | 297784 | 72 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 1308T>C | Arg436Arg |
M0115190 | PIJCFOGG_00301 | 297787 | 72 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 1305A>G | Ala435Ala |
M0115191 | PIJCFOGG_00301 | 297817 | 74 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 1275A>G | Ser425Ser |
M0115192 | PIJCFOGG_00301 | 297832 | 71 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 1260G>A | Glu420Glu |
M0115193 | PIJCFOGG_00301 | 297910 | 74 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 1182T>G | Val394Val |
M0115194 | PIJCFOGG_00301 | 297919 | 71 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 1173G>A | Glu391Glu |
M0115195 | PIJCFOGG_00301 | 297925 | 72 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 1167C>G | Ala389Ala |
M0115196 | PIJCFOGG_00301 | 297997 | 71 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 1095G>A | Ala365Ala |
M0115197 | PIJCFOGG_00301 | 298009 | 71 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 1083A>G | Glu361Glu |
M0115198 | PIJCFOGG_00301 | 298018 | 71 | Skin | 0.28 | protein_coding | missense_variant | MODERATE | 1074G>C | Leu358Phe |
M0115199 | PIJCFOGG_00301 | 298020 | 71 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 1072T>C | Leu358Leu |
M0115200 | PIJCFOGG_00301 | 298096 | 71 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 996C>T | Ser332Ser |
M0115201 | PIJCFOGG_00301 | 298144 | 72 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 948G>A | Val316Val |
M0115202 | PIJCFOGG_00301 | 298239 | 67 | Skin | 0.26 | protein_coding | missense_variant | MODERATE | 853G>A | Ala285Thr |
M0115203 | PIJCFOGG_00301 | 298294 | 72 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 798C>T | Ala266Ala |
M0115204 | PIJCFOGG_00301 | 298303 | 72 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 789T>G | Ser263Ser |
M0115205 | PIJCFOGG_00301 | 298308 | 72 | Skin | 0.28 | protein_coding | missense_variant | MODERATE | 784G>A | Ala262Thr |
M0115206 | PIJCFOGG_00301 | 298327 | 72 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 765C>T | Ser255Ser |
M0115207 | PIJCFOGG_00301 | 298348 | 73 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 744C>T | Ile248Ile |
M0115208 | PIJCFOGG_00301 | 298354 | 73 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 738A>G | Ser246Ser |
M0115209 | PIJCFOGG_00301 | 298396 | 74 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 696C>T | Ala232Ala |
M0115210 | PIJCFOGG_00301 | 298501 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 591A>G | Gln197Gln |
M0115211 | PIJCFOGG_00301 | 298582 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 510G>A | Gln170Gln |
M0115212 | PIJCFOGG_00301 | 298595 | 77 | Skin | 0.30 | protein_coding | missense_variant | MODERATE | 497T>C | Met166Thr |
M0115213 | PIJCFOGG_00301 | 298651 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 441C>G | Leu147Leu |
M0115214 | PIJCFOGG_00301 | 298654 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 438A>G | Arg146Arg |
M0115215 | PIJCFOGG_00301 | 298692 | 78 | Skin | 0.30 | protein_coding | synonymous_variant | LOW | 400T>C | Leu134Leu |
M0115216 | PIJCFOGG_00301 | 298720 | 77 | Skin | 0.30 | protein_coding | synonymous_variant | LOW | 372G>A | Ala124Ala |
M0115217 | PIJCFOGG_00301 | 298792 | 78 | Skin | 0.30 | protein_coding | synonymous_variant | LOW | 300C>T | Ile100Ile |
M0115218 | PIJCFOGG_00301 | 298878 | 83 | Skin | 0.32 | protein_coding | missense_variant | MODERATE | 214C>A | Leu72Ile |
M0115219 | PIJCFOGG_00301 | 298879 | 83 | Skin | 0.32 | protein_coding | synonymous_variant | LOW | 213T>C | Ser71Ser |
M0115220 | PIJCFOGG_00301 | 298894 | 80 | Skin | 0.31 | protein_coding | synonymous_variant | LOW | 198G>A | Ala66Ala |
M0115221 | PIJCFOGG_00301 | 298900 | 80 | Skin | 0.31 | protein_coding | synonymous_variant | LOW | 192C>A | Gly64Gly |
M0115222 | PIJCFOGG_00301 | 298957 | 80 | Skin | 0.31 | protein_coding | synonymous_variant | LOW | 135T>C | Ser45Ser |
M0115223 | PIJCFOGG_00301 | 298975 | 79 | Skin | 0.31 | protein_coding | synonymous_variant | LOW | 117C>A | Gly39Gly |
M0115224 | PIJCFOGG_00301 | 299014 | 81 | Skin | 0.31 | protein_coding | synonymous_variant | LOW | 78C>G | Ala26Ala |
M0115225 | PIJCFOGG_00301 | 299026 | 79 | Skin | 0.31 | protein_coding | synonymous_variant | LOW | 66G>A | Ala22Ala |
M0115226 | PIJCFOGG_00301 | 299051 | 79 | Skin | 0.31 | protein_coding | missense_variant | MODERATE | 41C>T | Ala14Val |
M0115227 | PIJCFOGG_00299 | 299098 | 78 | Skin | 0.30 | protein_coding | upstream_gene_variant | MODIFIER | -1788T>G | None |
M0115228 | PIJCFOGG_00302 | 299107 | 79 | Skin | 0.31 | protein_coding | synonymous_variant | LOW | 942T>C | Phe314Phe |
M0115229 | PIJCFOGG_00302 | 299131 | 79 | Skin | 0.31 | protein_coding | synonymous_variant | LOW | 918A>G | Gln306Gln |
M0115230 | PIJCFOGG_00302 | 299143 | 77 | Skin | 0.30 | protein_coding | synonymous_variant | LOW | 906A>G | Glu302Glu |
M0115231 | PIJCFOGG_00302 | 299194 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 855G>C | Ala285Ala |
M0115232 | PIJCFOGG_00302 | 299206 | 80 | Skin | 0.31 | protein_coding | synonymous_variant | LOW | 843T>C | Phe281Phe |
M0115233 | PIJCFOGG_00302 | 299239 | 77 | Skin | 0.30 | protein_coding | synonymous_variant | LOW | 810G>C | Ser270Ser |
M0115234 | PIJCFOGG_00302 | 299269 | 80 | Skin | 0.31 | protein_coding | synonymous_variant | LOW | 780A>C | Gly260Gly |
M0115235 | PIJCFOGG_00302 | 299302 | 79 | Skin | 0.31 | protein_coding | synonymous_variant | LOW | 747A>C | Ala249Ala |
M0115236 | PIJCFOGG_00302 | 299320 | 75 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 729C>T | Arg243Arg |
M0115237 | PIJCFOGG_00302 | 299362 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 687G>C | Arg229Arg |
M0115238 | PIJCFOGG_00302 | 299383 | 77 | Skin | 0.30 | protein_coding | synonymous_variant | LOW | 666A>G | Ala222Ala |
M0115239 | PIJCFOGG_00302 | 299464 | 73 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 585G>C | Leu195Leu |
M0115240 | PIJCFOGG_00302 | 299467 | 73 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 582C>T | Asn194Asn |
M0115241 | PIJCFOGG_00302 | 299479 | 73 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 570C>T | Arg190Arg |
M0115242 | PIJCFOGG_00302 | 299482 | 73 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 567A>C | Ala189Ala |
M0115243 | PIJCFOGG_00302 | 299485 | 73 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 564C>T | Gly188Gly |
M0115244 | PIJCFOGG_00302 | 299491 | 73 | Skin | 0.28 | protein_coding | synonymous_variant | LOW | 558G>A | Glu186Glu |
M0115245 | PIJCFOGG_00302 | 299494 | 75 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 555T>C | Arg185Arg |
M0115246 | PIJCFOGG_00302 | 299768 | 76 | Skin | 0.29 | protein_coding | missense_variant | MODERATE | 281G>A | Arg94Gln |
M0115247 | PIJCFOGG_00302 | 299773 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 276G>A | Glu92Glu |
M0115248 | PIJCFOGG_00302 | 299791 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 258C>A | Gly86Gly |
M0115249 | PIJCFOGG_00302 | 299818 | 78 | Skin | 0.30 | protein_coding | synonymous_variant | LOW | 231G>A | Ala77Ala |
M0115250 | PIJCFOGG_00302 | 299848 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 201C>G | Ser67Ser |
M0115251 | PIJCFOGG_00302 | 299860 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 189G>C | Thr63Thr |
M0115252 | PIJCFOGG_00302 | 299869 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 180C>G | Thr60Thr |
M0115253 | PIJCFOGG_00302 | 299875 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 174C>A | Thr58Thr |
M0115254 | PIJCFOGG_00302 | 299881 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 168T>C | Tyr56Tyr |
M0115255 | PIJCFOGG_00302 | 299902 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 147T>C | Val49Val |
M0115256 | PIJCFOGG_00302 | 299923 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 126C>T | Asp42Asp |
M0115257 | PIJCFOGG_00302 | 299929 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 120A>G | Ser40Ser |
M0115258 | PIJCFOGG_00302 | 299932 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 117G>A | Ala39Ala |
M0115259 | PIJCFOGG_00302 | 299935 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 114A>G | Val38Val |
M0115260 | PIJCFOGG_00302 | 299946 | 76 | Skin | 0.29 | protein_coding | missense_variant | MODERATE | 103G>A | Val35Ile |
M0115261 | PIJCFOGG_00302 | 299953 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 96C>G | Ala32Ala |
M0115262 | PIJCFOGG_00302 | 299956 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 93T>A | Thr31Thr |
M0115263 | PIJCFOGG_00302 | 299959 | 76 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 90C>T | Asn30Asn |
M0115264 | PIJCFOGG_00302 | 300013 | 78 | Skin | 0.30 | protein_coding | synonymous_variant | LOW | 36T>C | His12His |
M0115265 | PIJCFOGG_00302 | 300014 | 78 | Skin | 0.30 | protein_coding | missense_variant | MODERATE | 35A>G | His12Arg |
M0115266 | PIJCFOGG_00302 | 300019 | 78 | Skin | 0.30 | protein_coding | synonymous_variant | LOW | 30T>C | Arg10Arg |
M0115267 | PIJCFOGG_00303 | 300101 | 80 | Skin | 0.31 | protein_coding | missense_variant | MODERATE | 391T>C | Ser131Pro |
M0115268 | PIJCFOGG_00303 | 300162 | 80 | Skin | 0.31 | protein_coding | synonymous_variant | LOW | 330T>C | Ser110Ser |
M0115269 | PIJCFOGG_00303 | 300182 | 80 | Skin | 0.31 | protein_coding | missense_variant | MODERATE | 310A>G | Ser104Gly |
M0115270 | PIJCFOGG_00299 | 297242 | 7 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 69T>C | Gly23Gly |
M0115271 | PIJCFOGG_00300 | 297400 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 298C>T | Leu100Leu |
M0115272 | PIJCFOGG_00300 | 297416 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 282G>C | Gly94Gly |
M0115273 | PIJCFOGG_00300 | 297458 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 240C>T | Arg80Arg |
M0115274 | PIJCFOGG_00301 | 298815 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 277T>C | Leu93Leu |
M0115275 | PIJCFOGG_00301 | 298827 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 265A>C | Ile89Leu |
M0115276 | PIJCFOGG_00301 | 298837 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 255C>G | Gly85Gly |
M0115277 | PIJCFOGG_00301 | 298840 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 252C>T | Cys84Cys |
M0115278 | PIJCFOGG_00301 | 298848 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 244T>C | Leu82Leu |
M0115279 | PIJCFOGG_00301 | 298849 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 243C>T | Asn81Asn |
M0115280 | PIJCFOGG_00301 | 298861 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 231T>C | Gly77Gly |
M0115281 | PIJCFOGG_00301 | 298867 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 225C>T | Gly75Gly |
M0115282 | PIJCFOGG_00301 | 298873 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 219T>G | Gly73Gly |
M0115283 | PIJCFOGG_00301 | 298882 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 210C>T | Arg70Arg |
M0115284 | PIJCFOGG_00302 | 299266 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 783G>A | Lys261Lys |
M0115285 | PIJCFOGG_00302 | 299275 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 774G>C | Ser258Ser |
M0115286 | PIJCFOGG_00293 | 290661 | 53 | Skin | 0.21 | protein_coding | synonymous_variant | LOW | 144T>C | Ala48Ala |
M0115287 | PIJCFOGG_00293 | 290712 | 53 | Skin | 0.21 | protein_coding | missense_variant | MODERATE | 195C>G | Asp65Glu |
M0115288 | PIJCFOGG_00293 | 290715 | 53 | Skin | 0.21 | protein_coding | synonymous_variant | LOW | 198G>C | Val66Val |
M0115289 | PIJCFOGG_00293 | 290732 | 53 | Skin | 0.21 | protein_coding | missense_variant | MODERATE | 215T>C | Val72Ala |
M0115290 | PIJCFOGG_00293 | 290760 | 55 | Skin | 0.21 | protein_coding | synonymous_variant | LOW | 243A>G | Ala81Ala |
M0115291 | PIJCFOGG_00288 | 290776 | 55 | Skin | 0.21 | protein_coding | upstream_gene_variant | MODIFIER | -4918T>C | None |
M0115292 | PIJCFOGG_00288 | 290783 | 55 | Skin | 0.21 | protein_coding | upstream_gene_variant | MODIFIER | -4925C>T | None |
M0115293 | PIJCFOGG_00288 | 290801 | 55 | Skin | 0.21 | protein_coding | upstream_gene_variant | MODIFIER | -4943T>C | None |
M0115294 | PIJCFOGG_00288 | 290830 | 55 | Skin | 0.21 | protein_coding | upstream_gene_variant | MODIFIER | -4972A>G | None |
M0115295 | PIJCFOGG_00288 | 290846 | 55 | Skin | 0.21 | protein_coding | upstream_gene_variant | MODIFIER | -4988G>A | None |
M0115296 | PIJCFOGG_00288 | 290858 | 55 | Skin | 0.21 | protein_coding | upstream_gene_variant | MODIFIER | -5000A>G | None |
M0115297 | PIJCFOGG_00290 | 290860 | 55 | Skin | 0.21 | protein_coding | upstream_gene_variant | MODIFIER | -1663A>G | None |
M0115298 | PIJCFOGG_00290 | 290867 | 55 | Skin | 0.21 | protein_coding | upstream_gene_variant | MODIFIER | -1670A>G | None |
M0115299 | PIJCFOGG_00290 | 290868 | 55 | Skin | 0.21 | protein_coding | upstream_gene_variant | MODIFIER | -1671G>A | None |
M0115300 | PIJCFOGG_00290 | 290879 | 55 | Skin | 0.21 | protein_coding | upstream_gene_variant | MODIFIER | -1682C>T | None |
M0115301 | PIJCFOGG_00290 | 290905 | 57 | Skin | 0.22 | protein_coding | upstream_gene_variant | MODIFIER | -1708T>G | None |
M0115302 | PIJCFOGG_00290 | 290912 | 57 | Skin | 0.22 | protein_coding | upstream_gene_variant | MODIFIER | -1715T>C | None |
M0115303 | PIJCFOGG_00290 | 290941 | 57 | Skin | 0.22 | protein_coding | upstream_gene_variant | MODIFIER | -1744C>A | None |
M0115304 | PIJCFOGG_00294 | 290956 | 57 | Skin | 0.22 | protein_coding | missense_variant | MODERATE | 11T>C | Ile4Thr |
M0115305 | PIJCFOGG_00294 | 290996 | 61 | Skin | 0.24 | protein_coding | synonymous_variant | LOW | 51G>C | Gly17Gly |
M0115306 | PIJCFOGG_00294 | 291008 | 61 | Skin | 0.24 | protein_coding | synonymous_variant | LOW | 63T>C | Ala21Ala |
M0115307 | PIJCFOGG_00294 | 291029 | 62 | Skin | 0.24 | protein_coding | synonymous_variant | LOW | 84A>G | Leu28Leu |
M0115308 | PIJCFOGG_00294 | 291113 | 62 | Skin | 0.24 | protein_coding | synonymous_variant | LOW | 168A>G | Gly56Gly |
M0115309 | PIJCFOGG_00294 | 291179 | 60 | Skin | 0.23 | protein_coding | synonymous_variant | LOW | 234C>T | Gly78Gly |
M0115310 | PIJCFOGG_00294 | 291191 | 60 | Skin | 0.23 | protein_coding | missense_variant | MODERATE | 246C>G | Asp82Glu |
M0115311 | PIJCFOGG_00294 | 291273 | 68 | Skin | 0.26 | protein_coding | missense_variant | MODERATE | 328G>A | Val110Met |
M0115312 | PIJCFOGG_00294 | 291314 | 70 | Skin | 0.27 | protein_coding | synonymous_variant | LOW | 369T>C | Ala123Ala |
M0115313 | PIJCFOGG_00294 | 291343 | 66 | Skin | 0.26 | protein_coding | missense_variant | MODERATE | 398T>C | Val133Ala |
M0115314 | PIJCFOGG_00294 | 291408 | 69 | Skin | 0.27 | protein_coding | missense_variant | MODERATE | 463G>A | Val155Ile |
M0115315 | PIJCFOGG_00294 | 291413 | 69 | Skin | 0.27 | protein_coding | synonymous_variant | LOW | 468A>G | Arg156Arg |
M0115316 | PIJCFOGG_00290 | 291822 | 65 | Skin | 0.25 | protein_coding | upstream_gene_variant | MODIFIER | -2625G>A | None |
M0115317 | PIJCFOGG_00295 | 292467 | 67 | Skin | 0.26 | protein_coding | missense_variant | MODERATE | 1274G>A | Arg425His |
M0115318 | PIJCFOGG_00302 | 299560 | 36 | Skin | 0.14 | protein_coding | synonymous_variant | LOW | 489C>T | Asp163Asp |
M0115319 | PIJCFOGG_00302 | 299565 | 36 | Skin | 0.14 | protein_coding | synonymous_variant | LOW | 484T>C | Leu162Leu |
M0115320 | PIJCFOGG_00302 | 299587 | 36 | Skin | 0.14 | protein_coding | synonymous_variant | LOW | 462C>T | Phe154Phe |
M0115321 | PIJCFOGG_00302 | 299608 | 36 | Skin | 0.14 | protein_coding | synonymous_variant | LOW | 441C>T | Cys147Cys |
M0115322 | PIJCFOGG_00302 | 299617 | 36 | Skin | 0.14 | protein_coding | synonymous_variant | LOW | 432T>C | Gly144Gly |
M0115323 | PIJCFOGG_00302 | 299620 | 36 | Skin | 0.14 | protein_coding | synonymous_variant | LOW | 429G>A | Ser143Ser |
M0115324 | PIJCFOGG_00302 | 299626 | 36 | Skin | 0.14 | protein_coding | synonymous_variant | LOW | 423G>T | Ser141Ser |
M0115325 | PIJCFOGG_00302 | 299650 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 399C>A | Val133Val |
M0115326 | PIJCFOGG_00302 | 299651 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 398T>C | Val133Ala |
M0115327 | PIJCFOGG_00302 | 299662 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 387C>T | Gly129Gly |
M0115328 | PIJCFOGG_00302 | 299668 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 381T>C | Val127Val |
M0115329 | PIJCFOGG_00302 | 299671 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 378C>T | Asp126Asp |
M0115330 | PIJCFOGG_00302 | 299676 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 373T>G | Ser125Ala |
M0115331 | PIJCFOGG_00302 | 299680 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 369A>G | Lys123Lys |
M0115332 | PIJCFOGG_00302 | 299686 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 363G>A | Lys121Lys |
M0115333 | PIJCFOGG_00302 | 299696 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 353A>C | Asn118Thr |
M0115334 | PIJCFOGG_00303 | 300317 | 80 | Skin | 0.31 | protein_coding | missense_variant | MODERATE | 175A>G | Asn59Asp |
M0115335 | PIJCFOGG_00303 | 300321 | 80 | Skin | 0.31 | protein_coding | synonymous_variant | LOW | 171A>G | Glu57Glu |
M0115336 | PIJCFOGG_00303 | 300442 | 75 | Skin | 0.29 | protein_coding | missense_variant | MODERATE | 50T>G | Leu17Arg |
M0115337 | PIJCFOGG_00303 | 300480 | 75 | Skin | 0.29 | protein_coding | synonymous_variant | LOW | 12T>C | Ser4Ser |
M0115338 | PIJCFOGG_00303 | 300488 | 75 | Skin | 0.29 | protein_coding | missense_variant | MODERATE | 4C>A | Pro2Thr |
M0115339 | PIJCFOGG_00299 | 300637 | 75 | Skin | 0.29 | protein_coding | upstream_gene_variant | MODIFIER | -3327T>C | None |
M0115340 | PIJCFOGG_00299 | 300643 | 75 | Skin | 0.29 | protein_coding | upstream_gene_variant | MODIFIER | -3333C>G | None |
M0115341 | PIJCFOGG_00306 | 304459 | 40 | Skin | 0.16 | protein_coding | synonymous_variant | LOW | 540G>C | Pro180Pro |
M0115342 | PIJCFOGG_00306 | 304468 | 40 | Skin | 0.16 | protein_coding | synonymous_variant | LOW | 531C>G | Val177Val |
M0115343 | PIJCFOGG_00306 | 304471 | 40 | Skin | 0.16 | protein_coding | synonymous_variant | LOW | 528G>T | Ala176Ala |
M0115344 | PIJCFOGG_00306 | 304521 | 32 | Skin | 0.12 | protein_coding | missense_variant | MODERATE | 478A>T | Thr160Ser |
M0115345 | PIJCFOGG_00306 | 304528 | 32 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 471C>G | Ala157Ala |
M0115346 | PIJCFOGG_00306 | 304534 | 32 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 465G>A | Pro155Pro |
M0115347 | PIJCFOGG_00306 | 304546 | 32 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 453C>T | Asp151Asp |
M0115348 | PIJCFOGG_00306 | 304554 | 32 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 445C>T | Leu149Leu |
M0115349 | PIJCFOGG_00306 | 304579 | 32 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 420C>G | Pro140Pro |
M0115350 | PIJCFOGG_00306 | 304582 | 32 | Skin | 0.12 | protein_coding | synonymous_variant | LOW | 417G>A | Glu139Glu |
M0115351 | PIJCFOGG_00296 | 294671 | 8 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 615C>T | Val205Val |
M0115352 | PIJCFOGG_00277 | 271706 | 9 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 1828T>C | Leu610Leu |
M0115353 | PIJCFOGG_00277 | 271846 | 10 | Skin | 0.04 | protein_coding | synonymous_variant | LOW | 1968C>T | Ile656Ile |
M0115354 | PIJCFOGG_00277 | 272048 | 10 | Skin | 0.04 | protein_coding | missense_variant | MODERATE | 2170C>T | Pro724Ser |
M0115355 | PIJCFOGG_00276 | 272129 | 10 | Skin | 0.04 | protein_coding | upstream_gene_variant | MODIFIER | -2302A>G | None |
M0115356 | PIJCFOGG_00278 | 272976 | 16 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 797A>G | Lys266Arg |
M0115357 | PIJCFOGG_00278 | 272986 | 16 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 807T>C | Leu269Leu |
M0115358 | PIJCFOGG_00278 | 272995 | 16 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 816C>G | Val272Val |
M0115359 | PIJCFOGG_00278 | 273178 | 17 | Skin | 0.07 | protein_coding | synonymous_variant | LOW | 999T>C | Val333Val |
M0115360 | PIJCFOGG_00278 | 273368 | 16 | Skin | 0.06 | protein_coding | missense_variant | MODERATE | 1189G>A | Ala397Thr |
M0115361 | PIJCFOGG_00279 | 273555 | 17 | Skin | 0.07 | protein_coding | synonymous_variant | LOW | 72A>G | Ala24Ala |
M0115362 | PIJCFOGG_00279 | 273570 | 17 | Skin | 0.07 | protein_coding | synonymous_variant | LOW | 87C>T | Tyr29Tyr |
M0115363 | PIJCFOGG_00279 | 273579 | 17 | Skin | 0.07 | protein_coding | synonymous_variant | LOW | 96G>C | Leu32Leu |
M0115364 | PIJCFOGG_00279 | 273582 | 17 | Skin | 0.07 | protein_coding | synonymous_variant | LOW | 99G>C | Pro33Pro |
M0115365 | PIJCFOGG_00279 | 273591 | 17 | Skin | 0.07 | protein_coding | synonymous_variant | LOW | 108A>G | Glu36Glu |
M0115366 | PIJCFOGG_00279 | 273597 | 17 | Skin | 0.07 | protein_coding | synonymous_variant | LOW | 114G>C | Pro38Pro |
M0115367 | PIJCFOGG_00280 | 278137 | 31 | Skin | 0.12 | protein_coding | missense_variant | MODERATE | 1457T>C | Met486Thr |
M0115368 | PIJCFOGG_00281 | 278455 | 30 | Skin | 0.12 | protein_coding | missense_variant | MODERATE | 220G>T | Val74Phe |
M0115369 | PIJCFOGG_00282 | 278910 | 27 | Skin | 0.10 | protein_coding | missense_variant | MODERATE | 209G>A | Arg70His |
M0115370 | PIJCFOGG_00282 | 279499 | 16 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 798T>C | Phe266Phe |
M0115371 | PIJCFOGG_00282 | 279505 | 16 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 804A>C | Thr268Thr |
M0115372 | PIJCFOGG_00282 | 279508 | 16 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 807A>G | Gly269Gly |
M0115373 | PIJCFOGG_00282 | 279632 | 15 | Skin | 0.06 | protein_coding | synonymous_variant | LOW | 931C>T | Leu311Leu |
M0115374 | PIJCFOGG_00294 | 290990 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 45C>G | Ser15Ser |
M0115375 | PIJCFOGG_00294 | 291080 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 135T>C | Ala45Ala |
M0115376 | PIJCFOGG_00294 | 291091 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 146C>T | Ala49Val |
M0115377 | PIJCFOGG_00294 | 291203 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 258G>A | Arg86Arg |
M0115378 | PIJCFOGG_00294 | 291264 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 319G>C | Glu107Gln |
M0115379 | PIJCFOGG_00294 | 291284 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 339T>A | Ala113Ala |
M0115380 | PIJCFOGG_00294 | 291288 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 343G>A | Val115Ile |
M0115381 | PIJCFOGG_00294 | 291296 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 351C>T | Asp117Asp |
M0115382 | PIJCFOGG_00294 | 291375 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 430G>A | Val144Ile |
M0115383 | PIJCFOGG_00294 | 291404 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 459C>T | Gly153Gly |
M0115384 | PIJCFOGG_00294 | 291668 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 723C>T | Gly241Gly |
M0115385 | PIJCFOGG_00294 | 291692 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 747C>G | Ala249Ala |
M0115386 | PIJCFOGG_00294 | 291710 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 765T>C | Arg255Arg |
M0115387 | PIJCFOGG_00294 | 291741 | 5 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 796A>G | Thr266Ala |
M0115388 | PIJCFOGG_00294 | 291772 | 5 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 827C>T | Ala276Val |
M0115389 | PIJCFOGG_00290 | 291832 | 5 | Skin | 0.02 | protein_coding | upstream_gene_variant | MODIFIER | -2635A>G | None |
M0115390 | PIJCFOGG_00295 | 291926 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1815C>T | Asp605Asp |
M0115391 | PIJCFOGG_00295 | 291941 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1800C>A | Gly600Gly |
M0115392 | PIJCFOGG_00295 | 291965 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1776G>T | Pro592Pro |
M0115393 | PIJCFOGG_00295 | 291968 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1773A>G | Gly591Gly |
M0115394 | PIJCFOGG_00295 | 292060 | 6 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 1681G>A | Asp561Asn |
M0115395 | PIJCFOGG_00295 | 292079 | 6 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1662G>A | Ala554Ala |
M0115396 | PIJCFOGG_00295 | 292095 | 6 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 1646C>A | Thr549Asn |
M0115397 | PIJCFOGG_00295 | 292126 | 6 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 1615G>A | Val539Ile |
M0115398 | PIJCFOGG_00295 | 292269 | 5 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 1472T>C | Phe491Ser |
M0115399 | PIJCFOGG_00295 | 292279 | 5 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 1462C>G | Pro488Ala |
M0115400 | PIJCFOGG_00295 | 292280 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1461G>C | Ala487Ala |
M0115401 | PIJCFOGG_00295 | 292310 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1431A>T | Pro477Pro |
M0115402 | PIJCFOGG_00295 | 292326 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 1415C>A | Pro472His |
M0115403 | PIJCFOGG_00295 | 292338 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 1403T>C | Val468Ala |
M0115404 | PIJCFOGG_00295 | 292399 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 1342A>G | Thr448Ala |
M0115405 | PIJCFOGG_00295 | 292427 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1314A>G | Pro438Pro |
M0115406 | PIJCFOGG_00295 | 292450 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 1291A>C | Thr431Pro |
M0115407 | PIJCFOGG_00295 | 292472 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1269A>G | Gly423Gly |
M0115408 | PIJCFOGG_00295 | 292491 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 1250G>A | Arg417His |
M0115409 | PIJCFOGG_00295 | 292505 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1236C>T | Pro412Pro |
M0115410 | PIJCFOGG_00295 | 292517 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1224G>A | Thr408Thr |
M0115411 | PIJCFOGG_00295 | 292524 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 1217T>C | Val406Ala |
M0115412 | PIJCFOGG_00295 | 292531 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 1210G>A | Ala404Thr |
M0115413 | PIJCFOGG_00295 | 292535 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1206T>C | Pro402Pro |
M0115414 | PIJCFOGG_00295 | 292539 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 1202T>G | Leu401Arg |
M0115415 | PIJCFOGG_00295 | 292543 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1198T>C | Leu400Leu |
M0115416 | PIJCFOGG_00295 | 292554 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 1187C>A | Pro396His |
M0115417 | PIJCFOGG_00295 | 292556 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1185A>G | Ala395Ala |
M0115418 | PIJCFOGG_00295 | 292901 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 840G>A | Glu280Glu |
M0115419 | PIJCFOGG_00295 | 292904 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 837G>C | Pro279Pro |
M0115420 | PIJCFOGG_00295 | 292994 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 747C>T | Arg249Arg |
M0115421 | PIJCFOGG_00295 | 293014 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 727C>T | Leu243Leu |
M0115422 | PIJCFOGG_00295 | 293015 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 726G>A | Glu242Glu |
M0115423 | PIJCFOGG_00295 | 293021 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 720C>T | Ala240Ala |
M0115424 | PIJCFOGG_00295 | 293039 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 702C>T | Ala234Ala |
M0115425 | PIJCFOGG_00295 | 293051 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 690T>G | Leu230Leu |
M0115426 | PIJCFOGG_00295 | 293063 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 678T>A | Val226Val |
M0115427 | PIJCFOGG_00295 | 293087 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 654T>C | Ala218Ala |
M0115428 | PIJCFOGG_00295 | 293092 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 649T>C | Leu217Leu |
M0115429 | PIJCFOGG_00295 | 293093 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 648C>T | Val216Val |
M0115430 | PIJCFOGG_00295 | 293102 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 639G>A | Leu213Leu |
M0115431 | PIJCFOGG_00295 | 293116 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 625T>C | Leu209Leu |
M0115432 | PIJCFOGG_00295 | 293120 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 621A>T | Pro207Pro |
M0115433 | PIJCFOGG_00295 | 293153 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 588T>C | Asn196Asn |
M0115434 | PIJCFOGG_00295 | 293155 | 5 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 586A>G | Asn196Asp |
M0115435 | PIJCFOGG_00295 | 293161 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 580T>C | Leu194Leu |
M0115436 | PIJCFOGG_00295 | 293166 | 5 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 575A>G | Gln192Arg |
M0115437 | PIJCFOGG_00295 | 293171 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 570G>C | Leu190Leu |
M0115438 | PIJCFOGG_00295 | 293195 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 546T>C | Leu182Leu |
M0115439 | PIJCFOGG_00295 | 293273 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 468C>G | Gly156Gly |
M0115440 | PIJCFOGG_00295 | 293306 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 435G>T | Val145Val |
M0115441 | PIJCFOGG_00295 | 293324 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 417C>T | Leu139Leu |
M0115442 | PIJCFOGG_00295 | 293375 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 366G>A | Gln122Gln |
M0115443 | PIJCFOGG_00295 | 293407 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 334C>T | Leu112Leu |
M0115444 | PIJCFOGG_00295 | 293426 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 315A>G | Leu105Leu |
M0115445 | PIJCFOGG_00295 | 293453 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 288T>C | His96His |
M0115446 | PIJCFOGG_00295 | 293456 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 285C>T | Asp95Asp |
M0115447 | PIJCFOGG_00295 | 293465 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 276C>T | Gly92Gly |
M0115448 | PIJCFOGG_00295 | 293480 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 261T>C | His87His |
M0115449 | PIJCFOGG_00295 | 293486 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 255T>C | His85His |
M0115450 | PIJCFOGG_00295 | 293498 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 243T>C | Ala81Ala |
M0115451 | PIJCFOGG_00295 | 293508 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 233C>T | Ala78Val |
M0115452 | PIJCFOGG_00295 | 293528 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 213C>A | Arg71Arg |
M0115453 | PIJCFOGG_00295 | 293537 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 204G>A | Pro68Pro |
M0115454 | PIJCFOGG_00295 | 293554 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 187T>A | Ser63Thr |
M0115455 | PIJCFOGG_00295 | 293565 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 176A>G | Lys59Arg |
M0115456 | PIJCFOGG_00295 | 293566 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 175A>C | Lys59Gln |
M0115457 | PIJCFOGG_00295 | 293573 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 168T>C | Leu56Leu |
M0115458 | PIJCFOGG_00295 | 293627 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 114C>G | Leu38Leu |
M0115459 | PIJCFOGG_00295 | 293632 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 109T>C | Leu37Leu |
M0115460 | PIJCFOGG_00295 | 293676 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 65C>T | Thr22Ile |
M0115461 | PIJCFOGG_00295 | 293684 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 57A>C | Ala19Ala |
M0115462 | PIJCFOGG_00295 | 293690 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 51G>T | Ser17Ser |
M0115463 | PIJCFOGG_00295 | 293695 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 46C>A | Pro16Thr |
M0115464 | PIJCFOGG_00295 | 293711 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 30C>T | Pro10Pro |
M0115465 | PIJCFOGG_00295 | 293720 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 21A>G | Arg7Arg |
M0115466 | PIJCFOGG_00290 | 293745 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4548C>T | None |
M0115467 | PIJCFOGG_00290 | 293755 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4558C>T | None |
M0115468 | PIJCFOGG_00290 | 293779 | 4 | Skin | 0.02 | protein_coding | upstream_gene_variant | MODIFIER | -4582C>A | None |
M0115469 | PIJCFOGG_00290 | 293788 | 5 | Skin | 0.02 | protein_coding | upstream_gene_variant | MODIFIER | -4591T>C | None |
M0115470 | PIJCFOGG_00290 | 293789 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4592T>C | None |
M0115471 | PIJCFOGG_00290 | 293791 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4594C>T | None |
M0115472 | PIJCFOGG_00290 | 293811 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4614G>A | None |
M0115473 | PIJCFOGG_00290 | 293846 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4649T>G | None |
M0115474 | PIJCFOGG_00290 | 293863 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4666C>A | None |
M0115475 | PIJCFOGG_00290 | 293871 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4674C>T | None |
M0115476 | PIJCFOGG_00290 | 293873 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4676G>A | None |
M0115477 | PIJCFOGG_00290 | 293914 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4717T>C | None |
M0115478 | PIJCFOGG_00290 | 293923 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4726G>T | None |
M0115479 | PIJCFOGG_00290 | 293924 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4727G>A | None |
M0115480 | PIJCFOGG_00290 | 293955 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4758C>T | None |
M0115481 | PIJCFOGG_00290 | 293972 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4775T>C | None |
M0115482 | PIJCFOGG_00290 | 293982 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4785G>A | None |
M0115483 | PIJCFOGG_00290 | 293984 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4787C>T | None |
M0115484 | PIJCFOGG_00290 | 293990 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4793G>A | None |
M0115485 | PIJCFOGG_00290 | 293991 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4794A>G | None |
M0115486 | PIJCFOGG_00290 | 294003 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4806A>C | None |
M0115487 | PIJCFOGG_00290 | 294014 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4817T>G | None |
M0115488 | PIJCFOGG_00290 | 294026 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4829T>C | None |
M0115489 | PIJCFOGG_00290 | 294029 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4832G>A | None |
M0115490 | PIJCFOGG_00290 | 294051 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4854G>A | None |
M0115491 | PIJCFOGG_00296 | 294098 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 42A>C | Arg14Arg |
M0115492 | PIJCFOGG_00296 | 294291 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 235A>G | Thr79Ala |
M0115493 | PIJCFOGG_00296 | 294297 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 241G>A | Ala81Thr |
M0115494 | PIJCFOGG_00296 | 294327 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 271T>G | Leu91Val |
M0115495 | PIJCFOGG_00296 | 294354 | 5 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 298G>C | Asp100His |
M0115496 | PIJCFOGG_00296 | 294407 | 7 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 351A>G | Gln117Gln |
M0115497 | PIJCFOGG_00296 | 294428 | 6 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 372C>G | Ala124Ala |
M0115498 | PIJCFOGG_00279 | 274749 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 1266G>A | Met422Ile |
M0115499 | PIJCFOGG_00279 | 274764 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 1281G>A | Ser427Ser |
M0115500 | PIJCFOGG_00279 | 274773 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 1290T>C | Asp430Asp |
M0115501 | PIJCFOGG_00279 | 275973 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 2490T>C | Phe830Phe |
M0115502 | PIJCFOGG_00299 | 296867 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 444A>G | Val148Val |
M0115503 | PIJCFOGG_00299 | 296909 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 402T>C | Ala134Ala |
M0115504 | PIJCFOGG_00299 | 296957 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 354C>A | Ser118Ser |
M0115505 | PIJCFOGG_00301 | 297874 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1218T>A | Arg406Arg |
M0115506 | PIJCFOGG_00297 | 295058 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 363C>T | Arg121Arg |
M0115507 | PIJCFOGG_00297 | 295078 | 8 | Skin | 0.03 | protein_coding | missense_variant | MODERATE | 383G>A | Arg128Gln |
M0115508 | PIJCFOGG_00297 | 295109 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 414A>C | Gly138Gly |
M0115509 | PIJCFOGG_00297 | 295112 | 6 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 417T>C | Asp139Asp |
M0115510 | PIJCFOGG_00297 | 295115 | 7 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 420T>C | Asp140Asp |
M0115511 | PIJCFOGG_00297 | 295122 | 6 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 427G>C | Ala143Pro |
M0115512 | PIJCFOGG_00305 | 301648 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 461A>G | Asp154Gly |
M0115513 | PIJCFOGG_00297 | 294795 | 5 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 100A>G | Ser34Gly |
M0115514 | PIJCFOGG_00297 | 294803 | 6 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 108G>C | Thr36Thr |
M0115515 | PIJCFOGG_00297 | 294815 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 120T>C | Asp40Asp |
M0115516 | PIJCFOGG_00297 | 294821 | 9 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 126A>G | Pro42Pro |
M0115517 | PIJCFOGG_00297 | 294824 | 7 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 129G>C | Ala43Ala |
M0115518 | PIJCFOGG_00297 | 294825 | 6 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 130G>C | Gly44Arg |
M0115519 | PIJCFOGG_00306 | 304675 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 324A>G | Ala108Ala |
M0115520 | PIJCFOGG_00306 | 304990 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 9T>G | Cys3Trp |
M0115521 | PIJCFOGG_00296 | 294464 | 6 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 408C>T | Gly136Gly |
M0115522 | PIJCFOGG_00296 | 294497 | 6 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 441G>A | Val147Val |
M0115523 | PIJCFOGG_00296 | 294524 | 6 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 468C>T | Leu156Leu |
M0115524 | PIJCFOGG_00296 | 294539 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 483C>T | Gly161Gly |
M0115525 | PIJCFOGG_00296 | 294545 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 489C>T | Asp163Asp |
M0115526 | PIJCFOGG_00296 | 294566 | 6 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 510G>A | Ala170Ala |
M0115527 | PIJCFOGG_00296 | 294578 | 8 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 522C>G | Pro174Pro |
M0115528 | PIJCFOGG_00296 | 294588 | 8 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 532C>T | Leu178Leu |
M0115529 | PIJCFOGG_00296 | 294593 | 8 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 537T>C | Gly179Gly |
M0115530 | PIJCFOGG_00296 | 294605 | 10 | Skin | 0.04 | protein_coding | synonymous_variant | LOW | 549C>G | Pro183Pro |
M0115531 | PIJCFOGG_00296 | 294635 | 7 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 579T>C | Asp193Asp |
M0115532 | PIJCFOGG_00295 | 294691 | 4 | Skin | 0.02 | protein_coding | upstream_gene_variant | MODIFIER | -951G>A | None |
M0115533 | PIJCFOGG_00297 | 295264 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 569T>C | Val190Ala |
M0115534 | PIJCFOGG_00297 | 295265 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 570T>C | Val190Val |
M0115535 | PIJCFOGG_00279 | 274902 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 1419G>A | Leu473Leu |
M0115536 | PIJCFOGG_00279 | 275010 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1527T>C | Arg509Arg |
M0115537 | PIJCFOGG_00279 | 275011 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 1528C>G | Leu510Val |
M0115538 | PIJCFOGG_00279 | 275073 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1590T>C | Asp530Asp |
M0115539 | PIJCFOGG_00279 | 275499 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 2016T>C | Val672Val |
M0115540 | PIJCFOGG_00279 | 275538 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 2055G>T | Ser685Ser |
M0115541 | PIJCFOGG_00279 | 275550 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 2067C>T | Phe689Phe |
M0115542 | PIJCFOGG_00279 | 275598 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 2115G>A | Ala705Ala |
M0115543 | PIJCFOGG_00279 | 275601 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 2118G>A | Gln706Gln |
M0115544 | PIJCFOGG_00279 | 275730 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 2247A>G | Val749Val |
M0115545 | PIJCFOGG_00279 | 276273 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 2790C>G | Gly930Gly |
M0115546 | PIJCFOGG_00279 | 276324 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 2841T>C | Ala947Ala |
M0115547 | PIJCFOGG_00279 | 276588 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 3105T>C | Val1035Val |
M0115548 | PIJCFOGG_00280 | 276747 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 67C>T | Leu23Leu |
M0115549 | PIJCFOGG_00280 | 276750 | 4 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 70G>A | Ala24Thr |
M0115550 | PIJCFOGG_00280 | 276806 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 126C>T | Ala42Ala |
M0115551 | PIJCFOGG_00280 | 276814 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 134C>T | Ser45Leu |
M0115552 | PIJCFOGG_00280 | 276835 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 155T>C | Leu52Pro |
M0115553 | PIJCFOGG_00280 | 276878 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 198T>C | Gly66Gly |
M0115554 | PIJCFOGG_00280 | 277073 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 393T>C | Ser131Ser |
M0115555 | PIJCFOGG_00280 | 277136 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 456G>A | Glu152Glu |
M0115556 | PIJCFOGG_00280 | 277168 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 488A>G | Asn163Ser |
M0115557 | PIJCFOGG_00275 | 268679 | 6 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 56C>T | Ala19Val |
M0115558 | PIJCFOGG_00275 | 268725 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 102A>G | Gln34Gln |
M0115559 | PIJCFOGG_00275 | 268728 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 105A>G | Glu35Glu |
M0115560 | PIJCFOGG_00275 | 268729 | 5 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 106A>G | Asn36Asp |
M0115561 | PIJCFOGG_00275 | 268735 | 5 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 112A>G | Thr38Ala |
M0115562 | PIJCFOGG_00275 | 268756 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 133C>T | Leu45Leu |
M0115563 | PIJCFOGG_00275 | 268796 | 5 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 173C>T | Ser58Phe |
M0115564 | PIJCFOGG_00275 | 268936 | 5 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 313C>T | Leu105Phe |
M0115565 | PIJCFOGG_00275 | 269001 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 378C>T | Tyr126Tyr |
M0115566 | PIJCFOGG_00275 | 269018 | 5 | Skin | 0.02 | protein_coding | missense_variant | MODERATE | 395G>T | Gly132Val |
M0115567 | PIJCFOGG_00275 | 269170 | 6 | Skin | 0.02 | protein_coding | stop_lost&splice_region_variant | HIGH | 547T>C | Ter183Glnext*? |
M0115568 | PIJCFOGG_00269 | 269206 | 5 | Skin | 0.02 | protein_coding | upstream_gene_variant | MODIFIER | -4068T>A | None |
M0115569 | PIJCFOGG_00269 | 269293 | 6 | Skin | 0.02 | protein_coding | upstream_gene_variant | MODIFIER | -4155A>G | None |
M0115570 | PIJCFOGG_00269 | 269375 | 5 | Skin | 0.02 | protein_coding | upstream_gene_variant | MODIFIER | -4237T>A | None |
M0115571 | PIJCFOGG_00269 | 269376 | 5 | Skin | 0.02 | protein_coding | upstream_gene_variant | MODIFIER | -4238T>A | None |
M0115572 | PIJCFOGG_00276 | 269642 | 7 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 186G>A | Ala62Ala |
M0115573 | PIJCFOGG_00276 | 269763 | 7 | Skin | 0.03 | protein_coding | missense_variant | MODERATE | 65G>C | Gly22Ala |
M0115574 | PIJCFOGG_00276 | 269769 | 7 | Skin | 0.03 | protein_coding | missense_variant | MODERATE | 59C>G | Thr20Ser |
M0115575 | PIJCFOGG_00276 | 269815 | 7 | Skin | 0.03 | protein_coding | missense_variant | MODERATE | 13A>G | Thr5Ala |
M0115576 | PIJCFOGG_00277 | 269932 | 8 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 54C>G | Ala18Ala |
M0115577 | PIJCFOGG_00277 | 269968 | 8 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 90C>A | Ile30Ile |
M0115578 | PIJCFOGG_00277 | 270162 | 8 | Skin | 0.03 | protein_coding | missense_variant | MODERATE | 284G>A | Arg95Lys |
M0115579 | PIJCFOGG_00277 | 271015 | 8 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 1137A>G | Thr379Thr |
M0115580 | PIJCFOGG_00277 | 271075 | 8 | Skin | 0.03 | protein_coding | synonymous_variant | LOW | 1197A>C | Ala399Ala |
M0115581 | PIJCFOGG_00290 | 293832 | 3 | Skin | 0.01 | protein_coding | upstream_gene_variant | MODIFIER | -4635T>C | None |
M0115582 | PIJCFOGG_00302 | 299719 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 330C>G | Thr110Thr |
M0115583 | PIJCFOGG_00302 | 299725 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 324T>C | Asp108Asp |
M0115584 | PIJCFOGG_00302 | 299734 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 315G>T | Ala105Ala |
M0115585 | PIJCFOGG_00299 | 296687 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 624A>G | Val208Val |
M0115586 | PIJCFOGG_00279 | 275820 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 2337C>A | Val779Val |
M0115587 | PIJCFOGG_00279 | 275829 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 2346G>A | Gln782Gln |
M0115588 | PIJCFOGG_00296 | 294368 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 312T>C | Pro104Pro |
M0115589 | PIJCFOGG_00296 | 294369 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 313G>A | Ala105Thr |
M0115590 | PIJCFOGG_00296 | 294452 | 5 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 396G>T | Val132Val |
M0115591 | PIJCFOGG_00280 | 277268 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 588C>T | Arg196Arg |
M0115592 | PIJCFOGG_00280 | 277313 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 633A>G | Thr211Thr |
M0115593 | PIJCFOGG_00280 | 277328 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 648T>C | Tyr216Tyr |
M0115594 | PIJCFOGG_00280 | 277330 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 650A>G | Asp217Gly |
M0115595 | PIJCFOGG_00280 | 277331 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 651C>G | Asp217Glu |
M0115596 | PIJCFOGG_00280 | 277358 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 678A>C | Gly226Gly |
M0115597 | PIJCFOGG_00280 | 277361 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 681T>C | Asn227Asn |
M0115598 | PIJCFOGG_00280 | 277388 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 708G>A | Ala236Ala |
M0115599 | PIJCFOGG_00280 | 277398 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 718C>T | Leu240Leu |
M0115600 | PIJCFOGG_00280 | 277420 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 740G>A | Arg247His |
M0115601 | PIJCFOGG_00280 | 277421 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 741C>T | Arg247Arg |
M0115602 | PIJCFOGG_00280 | 277433 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 753G>A | Thr251Thr |
M0115603 | PIJCFOGG_00280 | 277473 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 793C>T | Leu265Leu |
M0115604 | PIJCFOGG_00297 | 294836 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 141C>T | Gly47Gly |
M0115605 | PIJCFOGG_00297 | 294868 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 173C>T | Ala58Val |
M0115606 | PIJCFOGG_00299 | 296360 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 951C>T | Val317Val |
M0115607 | PIJCFOGG_00299 | 296810 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 501C>G | Thr167Thr |
M0115608 | PIJCFOGG_00299 | 296849 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 462T>C | Gly154Gly |
M0115609 | PIJCFOGG_00299 | 296893 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 418T>G | Ser140Ala |
M0115610 | PIJCFOGG_00299 | 296939 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 372C>T | Asn124Asn |
M0115611 | PIJCFOGG_00299 | 297020 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 291C>T | Ser97Ser |
M0115612 | PIJCFOGG_00299 | 297062 | 3 | Skin | 0.01 | protein_coding | missense_variant | MODERATE | 249T>G | Ile83Met |
M0115613 | PIJCFOGG_00299 | 297101 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 210G>C | Arg70Arg |
M0115614 | PIJCFOGG_00299 | 297161 | 3 | Skin | 0.01 | protein_coding | synonymous_variant | LOW | 150C>T | Arg50Arg |
M0115615 | PIJCFOGG_00306 | 303976 | 4 | Skin | 0.02 | protein_coding | synonymous_variant | LOW | 1023A>G | Gly341Gly |
Gene Name | vf_gene_id | vf_name | identity | evalue | qstart | qend | query_coverage | subject_coverage | vf_category | gene_description | condition |
---|
Gene Name | compound | identity | evalue | qstart | qend | query_coverage | subject_coverage | group |
---|---|---|---|---|---|---|---|---|
PIJCFOGG_00006 | Copper (Cu) | 75.2 | 1.2e-281 | 14 | 630 | 0.9968 | 1.0162 | experiment |
PIJCFOGG_00007 | Copper (Cu) | 81 | 8.5e-102 | 1 | 226 | 0.9912 | 0.9826 | experiment |
PIJCFOGG_00058 | Lead (Pb) | 78.4 | 0 | 1 | 800 | 1.0000 | 1.0013 | experiment |
PIJCFOGG_00241 | Copper (Cu) | 81 | 5.9e-103 | 1 | 226 | 0.9912 | 0.9826 | experiment |
PIJCFOGG_00242 | Copper (Cu) | 75.8 | 6.1e-280 | 5 | 604 | 1.0281 | 1.0032 | experiment |
PIJCFOGG_00279 | Gold (Au), Methylene Blue [class: Thiazinium], Crystal Violet [class: Triarylmethane] | 80 | 0 | 1 | 1047 | 0.9896 | 0.9924 | experiment |
PIJCFOGG_00370 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 71.4 | 4.7e-142 | 1 | 371 | 1.0000 | 0.8876 | experiment |
PIJCFOGG_00372 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 85.7 | 0 | 1 | 1046 | 0.9896 | 0.9849 | experiment |
PIJCFOGG_00373 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 70.6 | 8.9e-129 | 1 | 310 | 0.9568 | 0.9810 | experiment |
PIJCFOGG_00374 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 78.2 | 8.4e-102 | 1 | 225 | 1.0000 | 1.0000 | experiment |
PIJCFOGG_00383 | Nickel (Ni), Cobalt (Co), Cadmium (Cd) | 70.2 | 1.4e-80 | 86 | 283 | 0.6972 | 0.9296 | experiment |
PIJCFOGG_00386 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 99.3 | 1.5e-221 | 1 | 418 | 1.0000 | 1.0000 | experiment |
PIJCFOGG_00387 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 100 | 1.6e-284 | 1 | 520 | 1.0000 | 1.0000 | experiment |
PIJCFOGG_00388 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 99.8 | 0 | 1 | 1063 | 1.0000 | 1.0000 | experiment |
PIJCFOGG_00389 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 100 | 3.4e-173 | 1 | 316 | 1.0000 | 1.0000 | experiment |
PIJCFOGG_00390 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 99.1 | 2.2e-126 | 1 | 225 | 1.0000 | 1.0000 | experiment |
PIJCFOGG_00391 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 100 | 3.2e-263 | 12 | 487 | 0.9774 | 1.0000 | experiment |
PIJCFOGG_00392 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 100 | 1.3e-70 | 1 | 131 | 1.0000 | 0.9850 | experiment |
PIJCFOGG_00397 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 100 | 0 | 1 | 829 | 1.0000 | 1.0000 | experiment |
PIJCFOGG_00002 | Mercury (Hg) | 74.8 | 2.4e-186 | 166 | 618 | 0.4670 | 0.7525 | prediction |
PIJCFOGG_00003 | Copper (Cu) | 100 | 1.5e-147 | 1 | 280 | 0.9396 | 0.9061 | prediction |
PIJCFOGG_00004 | Copper (Cu) | 100 | 5.2e-65 | 1 | 128 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00005 | Copper (Cu) | 100 | 1.3e-186 | 1 | 324 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00006 | Copper (Cu), Silver (Ag) | 100 | 0 | 1 | 631 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00007 | Copper (Cu) | 100 | 4.6e-125 | 1 | 228 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00008 | Copper (Cu) | 100 | 1.1e-258 | 1 | 465 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00037 | Mercury (Hg) | 92.4 | 1.2e-249 | 117 | 618 | 0.5180 | 0.8355 | prediction |
PIJCFOGG_00047 | Mercury (Hg) | 92.4 | 1.2e-249 | 117 | 618 | 0.5180 | 0.8355 | prediction |
PIJCFOGG_00058 | Lead (Pb) | 78.4 | 0 | 1 | 800 | 1.0000 | 1.0013 | prediction |
PIJCFOGG_00233 | Copper (Cu) | 79.9 | 0 | 61 | 758 | 0.9160 | 0.9136 | prediction |
PIJCFOGG_00240 | Copper (Cu) | 99.3 | 9.9e-252 | 1 | 456 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00241 | Copper (Cu) | 100 | 4.6e-125 | 1 | 228 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00242 | Copper (Cu), Silver (Ag) | 100 | 0 | 1 | 604 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00243 | Copper (Cu) | 98.9 | 4.1e-159 | 153 | 429 | 0.6457 | 0.8523 | prediction |
PIJCFOGG_00244 | Copper (Cu) | 100 | 2.6e-64 | 1 | 128 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00245 | Copper (Cu) | 100 | 4.2e-161 | 1 | 309 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00246 | Copper (Cu) | 77.6 | 3.6e-71 | 7 | 162 | 0.9630 | 0.9630 | prediction |
PIJCFOGG_00279 | Gold (Au), Methylene Blue [class: Thiazinium], Crystal Violet [class: Triarylmethane] | 80.6 | 0 | 1 | 1058 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00370 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 71.7 | 2.2e-140 | 1 | 371 | 1.0000 | 0.8876 | prediction |
PIJCFOGG_00372 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 87.4 | 0 | 1 | 1043 | 0.9858 | 0.9793 | prediction |
PIJCFOGG_00373 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 71 | 5.4e-127 | 1 | 310 | 0.9568 | 0.9810 | prediction |
PIJCFOGG_00374 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 79.6 | 5.4e-102 | 1 | 225 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00383 | Nickel (Ni), Cobalt (Co), Cadmium (Cd) | 70.2 | 3.1e-78 | 86 | 283 | 0.6972 | 0.9296 | prediction |
PIJCFOGG_00386 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 100 | 6.3e-221 | 1 | 418 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00387 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 100 | 3.6e-282 | 1 | 520 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00388 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 100 | 0 | 1 | 1063 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00389 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 100 | 7.7e-171 | 1 | 316 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00390 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 100 | 3.5e-125 | 1 | 225 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00391 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 100 | 1.2e-266 | 1 | 487 | 1.0000 | 1.0000 | prediction |
PIJCFOGG_00392 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 100 | 3e-68 | 1 | 131 | 1.0000 | 0.9850 | prediction |
PIJCFOGG_00397 | Cadmium (Cd), Zinc (Zn), Cobalt (Co) | 100 | 0 | 1 | 829 | 1.0000 | 1.0000 | prediction |
Gene Name | aro_accession | identity | evalue | qstart | qend | query_coverage | subject_coverage | drug_class | amr_gene_family | resistance_mechanism |
---|---|---|---|---|---|---|---|---|---|---|
PIJCFOGG_00279 | ARO:3000790 | 80 | 0 | 1 | 1047 | 0.9896 | 0.9924 | monobactam | resistance-nodulation-cell division (RND) antibiotic efflux pump | antibiotic efflux |
Gene Name | phi_molconn_id | host gene_name | identity | evalue | qstart | qend | query_coverage | subject_coverage | host_descripton | disease_name | function | phenotype_of_mutant |
---|
Gene Name | cazy_id | identity | evalue | qstart | qend | query_coverage | subject_coverage |
---|---|---|---|---|---|---|---|
PIJCFOGG_00182 | UNK03648.1|GH23 | 100 | 1.02e-113 | 1 | 158 | 1 | 1 |
PIJCFOGG_00184 | UNK03650.1|GH23 | 100 | 2.2e-191 | 10 | 266 | 0.9662 | 1 |
PIJCFOGG_00319 | QGL92279.1|GH23 | 94.4 | 6.22e-129 | 1 | 196 | 1 | 1 |
PIJCFOGG_00399 | AOY97787.1|GT2 | 100 | 3.92e-266 | 1 | 373 | 1 | 1 |
PIJCFOGG_00401 | AOY97821.1|GT83 | 100 | 0 | 1 | 535 | 1 | 1 |
Gene Name | tcid | identity | evalue | qstart | qend | query_coverage | subject_coverage | class_field | class_term | subclass | subclass_term | family | family_term |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIJCFOGG_00058 | 3.A.3.6.4 | 78.4 | 0 | 1 | 800 | 1.0000 | 1.0000 | 3 | Primary Active Transporters | 3.A | P-P-bond-hydrolysis-driven transporters | 3.A.3 | The P-type ATPase (P-ATPase) Superfamily |
PIJCFOGG_00060 | 2.A.108.2.1 | 79.3 | 3.4e-280 | 1 | 641 | 0.9984 | 0.9984 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.108 | The Iron/Lead Transporter (ILT) Family |
PIJCFOGG_00144 | 2.A.1.14.8 | 84.8 | 1.1e-213 | 1 | 448 | 1.0000 | 1.0000 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.1 | The Major Facilitator Superfamily (MFS) |
PIJCFOGG_00264 | 2.A.108.2.1 | 80.5 | 4.7e-282 | 1 | 635 | 0.9922 | 0.9891 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.108 | The Iron/Lead Transporter (ILT) Family |
PIJCFOGG_00279 | 2.A.6.2.25 | 80 | 0 | 1 | 1047 | 0.9896 | 2.0815 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.6 | The Resistance-Nodulation-Cell Division (RND) Superfamily |
PIJCFOGG_00325 | 2.A.49.9.5 | 73.5 | 2.9e-185 | 12 | 442 | 0.9370 | 0.9602 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.49 | The Chloride Carrier/Channel (ClC) Family |
PIJCFOGG_00370 | 1.B.17.2.2 | 71.4 | 1.8e-140 | 1 | 371 | 1.0000 | 0.8876 | 1 | Channels/Pores | 1.B | β-Barrel Porins | 1.B.17 | The Outer Membrane Factor (OMF) Family |
PIJCFOGG_00372 | 2.A.6.1.2 | 85.7 | 0 | 1 | 1046 | 0.9887 | 0.9831 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.6 | The Resistance-Nodulation-Cell Division (RND) Superfamily |
PIJCFOGG_00373 | 2.A.4.1.1 | 70.6 | 3.4e-127 | 1 | 310 | 0.9568 | 0.9810 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.4 | The Cation Diffusion Facilitator (CDF) Family |
PIJCFOGG_00386 | 1.B.17.2.2 | 99.3 | 5.7e-220 | 1 | 418 | 1.0000 | 1.0000 | 1 | Channels/Pores | 1.B | β-Barrel Porins | 1.B.17 | The Outer Membrane Factor (OMF) Family |
PIJCFOGG_00388 | 2.A.6.1.2 | 99.8 | 0 | 1 | 1063 | 1.0000 | 1.0000 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.6 | The Resistance-Nodulation-Cell Division (RND) Superfamily |
PIJCFOGG_00389 | 2.A.4.1.1 | 100 | 1.3e-171 | 1 | 316 | 1.0000 | 1.0000 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.4 | The Cation Diffusion Facilitator (CDF) Family |
PIJCFOGG_00397 | 3.A.3.6.27 | 100 | 0 | 1 | 829 | 1.0000 | 1.0000 | 3 | Primary Active Transporters | 3.A | P-P-bond-hydrolysis-driven transporters | 3.A.3 | The P-type ATPase (P-ATPase) Superfamily |
PIJCFOGG_00411 | 2.A.1.14.3 | 72.6 | 1e-179 | 4 | 433 | 0.9931 | 0.9555 | 2 | Electrochemical Potential-driven Transporters | 2.A | Porters (uniporters, symporters, antiporters) | 2.A.1 | The Major Facilitator Superfamily (MFS) |