O43150
SS
Gene name |
ASAP2 (DDEF2, KIAA0400) |
Protein name |
Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 |
Names |
Development and differentiation-enhancing factor 2 , Paxillin-associated protein with ARF GAP activity 3 , PAG3 , Pyk2 C-terminus-associated protein , PAP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8853 |
EC number |
|
Protein Class |
|
Descriptions
ASAP1 is an Arf GTPase-activating protein (GAP) that functions on membrane surfaces to catalyze the hydrolysis of GTP bound to Arf. ASAP1 has a BAR domain which functions as membrane curvature sensors or as inducers of membrane curvature. The BAR domain influences GAP activity by binding to the PH domain and/or Arf GAP domain. The deletion of the entire BAR domain or the N-terminal extension increased GAP activity.
Autoinhibitory domains (AIDs)
Target domain |
307-394 (PH domain);421-545 (Arf GAP domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for O43150
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O43150-F1 | Predicted | AlphaFoldDB |
915 variants for O43150
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs763555998 | 4 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs928852938 | 4 | Q>H | No |
TOPMed gnomAD |
|
| rs1251177142 | 15 | H>L | No | Ensembl | |
| rs1661167058 | 15 | H>Y | No | Ensembl | |
| rs763281481 | 17 | D>G | No |
ExAC gnomAD |
|
| rs776600346 | 18 | Y>* | No |
ExAC gnomAD |
|
| rs983723039 | 21 | P>H | No | TOPMed | |
| rs2147907987 | 22 | T>R | No | Ensembl | |
| rs755204883 | 23 | A>V | No |
ExAC gnomAD |
|
| rs781444144 | 25 | S>T | No |
ExAC gnomAD |
|
| rs908109374 | 27 | T>A | No | TOPMed | |
| rs939701295 | 28 | T>I | No |
TOPMed gnomAD |
|
| rs939701295 | 28 | T>N | No |
TOPMed gnomAD |
|
| rs1661171837 | 29 | R>H | No | gnomAD | |
| rs2147908195 | 30 | T>R | No | Ensembl | |
| rs140100102 | 31 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs140100102 | 31 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2147908268 | 32 | Q>R | No | Ensembl | |
| rs1661172651 | 33 | C>S | No | Ensembl | |
| rs771831853 | 34 | R>Q | No |
ExAC gnomAD |
|
| rs745807023 | 34 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1661173326 | 35 | N>D | No | Ensembl | |
| rs2147908348 | 36 | T>N | No | Ensembl | |
| TCGA novel | 37 | V>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs529343660 | 41 | E>K | No | 1000Genomes | |
| COSM4930070 | 41 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1448937476 | 43 | A>P | No | gnomAD | |
| rs771427856 | 46 | V>M | No |
ExAC TOPMed gnomAD |
|
| COSM1023641 | 47 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767981965 | 48 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs774583249 | 48 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1479847145 | 49 | M>I | No | gnomAD | |
| rs1666974115 | 49 | M>L | No |
TOPMed gnomAD |
|
| rs1572338845 | 50 | V>G | No | Ensembl | |
| rs972469301 | 51 | L>P | No | Ensembl | |
| rs1487052927 | 52 | Y>H | No |
TOPMed gnomAD |
|
| rs775923014 | 53 | K>R | No |
ExAC gnomAD |
|
|
rs760951088 COSM1163266 |
54 | M>I | pancreas [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1398628866 | 56 | K>* | No | gnomAD | |
| rs1437618484 | 58 | V>G | No | gnomAD | |
| rs753909448 | 58 | V>L | No |
ExAC gnomAD |
|
| rs753909448 | 58 | V>M | No |
ExAC gnomAD |
|
| rs758302722 | 60 | A>T | No |
ExAC gnomAD |
|
| COSM1307085 | 61 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754830559 | 61 | I>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 61 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751435590 | 61 | I>V | No |
ExAC gnomAD |
|
| rs1457827128 | 63 | S>T | No |
TOPMed gnomAD |
|
| TCGA novel | 64 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1352840276 | 66 | L>M | No | gnomAD | |
| rs1367279784 | 67 | A>S | No | TOPMed | |
| rs1383789621 | 69 | V>M | No | gnomAD | |
| rs755767129 | 76 | T>I | No |
ExAC gnomAD |
|
| rs957906804 | 80 | E>G | No | TOPMed | |
| rs1668212290 | 82 | F>I | No | gnomAD | |
| rs777425864 | 83 | G>S | No |
ExAC gnomAD |
|
| rs199504138 | 84 | G>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1328295939 | 85 | N>I | No |
TOPMed gnomAD |
|
| rs17855821 | 86 | C>R | No | Ensembl | |
| rs548555308 | 86 | C>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1668214072 | 89 | R>G | No | Ensembl | |
| rs1668214234 | 90 | D>G | No | gnomAD | |
| rs1271950125 | 93 | D>G | No |
TOPMed gnomAD |
|
| rs373522266 | 96 | S>I | No |
ESP ExAC gnomAD |
|
| rs373522266 | 96 | S>N | No |
ESP ExAC gnomAD |
|
| rs568509831 | 97 | A>E | No |
1000Genomes ExAC gnomAD |
|
|
COSM4096244 rs568509831 |
97 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 101 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1462218528 | 109 | T>I | No | gnomAD | |
| rs1462218528 | 109 | T>R | No | gnomAD | |
| TCGA novel | 110 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs889594045 | 110 | A>V | No | Ensembl | |
| COSM3583940 | 117 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1669952105 | 118 | N>S | No | TOPMed | |
| rs1669952266 | 120 | N>K | No | TOPMed | |
| rs780655052 | 123 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1669952637 | 124 | S>F | No |
TOPMed gnomAD |
|
| rs769135192 | 129 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs781400700 | 129 | S>N | No |
ExAC gnomAD |
|
| COSM1409934 | 133 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2148495886 | 134 | D>G | No | Ensembl | |
| TCGA novel | 134 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1558326962 | 138 | V>M | No | Ensembl | |
| rs1392622160 | 145 | P>H | No | gnomAD | |
| rs761463891 | 145 | P>S | No | ExAC | |
| TCGA novel | 146 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1304469360 | 147 | D>N | No | gnomAD | |
| rs1276831545 | 150 | W>* | No | TOPMed | |
| rs916969518 | 151 | K>R | No | TOPMed | |
| rs1334784896 | 157 | I>L | No |
TOPMed gnomAD |
|
| rs1334784896 | 157 | I>V | No |
TOPMed gnomAD |
|
| TCGA novel | 162 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1670257374 | 167 | H>P | No | gnomAD | |
|
COSM1183712 rs757499704 |
168 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs750632165 | 171 | H>Y | No |
ExAC gnomAD |
|
| rs780173789 | 173 | M>V | No |
ExAC gnomAD |
|
| COSM576486 | 175 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1670258883 | 175 | R>Q | No | TOPMed | |
|
rs748052568 COSM4749742 |
175 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| COSM3372895 | 176 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 177 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1265287388 | 177 | E>Q | No |
TOPMed gnomAD |
|
| COSM6092415 | 180 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1670259535 | 180 | G>R | No | TOPMed | |
|
TCGA novel rs1670259711 |
181 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1237883209 | 184 | A>T | No |
TOPMed gnomAD |
|
|
rs770829193 COSM4096245 |
185 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA |
| COSM6054449 | 186 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3583941 | 187 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1670260986 | 189 | K>E | No | Ensembl | |
| rs1670261135 | 191 | R>S | No | TOPMed | |
| rs1670261296 | 192 | R>C | No |
TOPMed gnomAD |
|
| rs207461514 | 192 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs207461514 | 192 | R>P | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 194 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1670262312 | 200 | E>D | No | Ensembl | |
| rs1558330990 | 200 | E>K | No | Ensembl | |
| rs1285046398 | 201 | Y>C | No |
TOPMed gnomAD |
|
|
rs777158171 COSM1642007 |
203 | L>P | stomach [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs762299640 | 205 | V>F | No |
ExAC gnomAD |
|
| rs762299640 | 205 | V>I | No |
ExAC gnomAD |
|
| rs906916959 | 207 | E>A | No | TOPMed | |
|
TCGA novel rs1670578451 |
207 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1670579038 | 209 | K>N | No |
TOPMed gnomAD |
|
| COSM1483350 | 209 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2148531697 | 213 | G>V | No | Ensembl | |
| rs765537606 | 219 | N>T | No |
ExAC gnomAD |
|
| rs750737580 | 221 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs557011414 | 223 | Y>C | No |
1000Genomes ExAC gnomAD |
|
| rs751810829 | 225 | H>P | No |
ExAC gnomAD |
|
| rs751810829 | 225 | H>R | No |
ExAC gnomAD |
|
| rs1389171007 | 226 | A>V | No | gnomAD | |
| rs1329655140 | 228 | C>Y | No | gnomAD | |
| rs748663101 | 229 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs1356283092 | 229 | N>S | No | gnomAD | |
| COSM5173560 | 232 | Q>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1671087023 | 233 | D>E | No | TOPMed | |
| rs1490459187 | 233 | D>N | No |
TOPMed gnomAD |
|
| rs773474342 | 236 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1671087381 | 236 | K>R | No | Ensembl | |
| rs1201266927 | 237 | A>P | No | gnomAD | |
| TCGA novel | 237 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM722910 | 238 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1477974499 | 239 | E>Q | No | TOPMed | |
| rs759819362 | 245 | I>F | No |
ExAC gnomAD |
|
| rs767717757 | 245 | I>T | No |
ExAC gnomAD |
|
| rs370570366 | 247 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs750302531 | 250 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs764885135 | 254 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs764885135 | 254 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1386747465 | 255 | I>T | No |
TOPMed gnomAD |
|
| rs184456996 | 256 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs760855378 | 258 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA |
| rs1558341733 | 258 | A>V | No | Ensembl | |
| TCGA novel | 260 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs368018172 | 260 | D>Y | No |
ESP ExAC TOPMed gnomAD |
|
| COSM3426753 | 266 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1264231826 | 267 | I>T | No | gnomAD | |
| rs1671116529 | 268 | Q>E | No | gnomAD | |
| TCGA novel | 269 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM5862976 | 270 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1039131169 | 271 | D>E | No | Ensembl | |
| rs766169846 | 271 | D>N | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 272 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1051207873 | 276 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1197071318 | 276 | A>V | No |
TOPMed gnomAD |
|
| rs752262463 | 278 | Q>H | No |
ExAC gnomAD |
|
| rs1160095275 | 281 | Q>* | No | gnomAD | |
| rs1671118819 | 282 | K>N | No | Ensembl | |
| TCGA novel | 283 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768678377 | 284 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1020353303 | 285 | S>P | No | gnomAD | |
| rs755665966 | 286 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs777343307 | 287 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs777343307 | 287 | I>V | No |
ExAC TOPMed gnomAD |
|
|
rs1671825043 COSM1023643 |
288 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs753245751 | 288 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1316418899 | 289 | Q>H | No | gnomAD | |
| rs757858736 | 293 | Y>H | No |
ExAC gnomAD |
|
| COSM136235 | 294 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2148605223 | 295 | L>* | No | Ensembl | |
| rs779611839 | 296 | H>L | No |
ExAC TOPMed gnomAD |
|
| rs779611839 | 296 | H>P | No |
ExAC TOPMed gnomAD |
|
| rs779611839 | 296 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs746342296 | 298 | P>S | No |
ExAC gnomAD |
|
| COSM3799262 | 299 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1671827737 | 299 | Q>P | No | TOPMed | |
| rs1474269733 | 302 | K>E | No | TOPMed | |
| rs753508196 | 303 | E>* | No | Ensembl | |
| rs753508196 | 303 | E>K | No | Ensembl | |
| rs772628333 | 304 | H>L | No |
ExAC TOPMed gnomAD |
|
| rs1671828433 | 304 | H>N | No | Ensembl | |
| rs772628333 | 304 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs1572506622 | 306 | T>P | No | Ensembl | |
| rs1671830071 | 307 | E>G | No | gnomAD | |
| rs1441974769 | 307 | E>K | No | TOPMed | |
| rs768723108 | 308 | R>Q | No |
ExAC gnomAD |
|
|
rs747266776 COSM180342 |
308 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs776797223 | 309 | N>K | No |
ExAC gnomAD |
|
| TCGA novel | 309 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1399076774 | 310 | G>A | No | gnomAD | |
| rs761935035 | 310 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1572506724 | 311 | S>R | No | Ensembl | |
| rs769838169 | 313 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs1671832574 | 314 | K>E | No | Ensembl | |
| rs1572506756 | 316 | S>R | No | Ensembl | |
| COSM1409935 | 318 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1671833538 | 318 | G>W | No | TOPMed | |
|
COSM1409936 rs1209147766 |
320 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1671847322 | 325 | K>R | No | Ensembl | |
| rs1489231503 | 326 | R>K | No | gnomAD | |
| TCGA novel | 326 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1461782635 | 327 | K>E | No | TOPMed | |
| TCGA novel | 327 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1191361512 | 328 | C>R | No | gnomAD | |
| rs1261857980 | 333 | G>C | No |
TOPMed gnomAD |
|
| rs1261857980 | 333 | G>S | No |
TOPMed gnomAD |
|
| COSM1023644 | 334 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761540224 | 337 | I>R | No |
ExAC gnomAD |
|
| rs772723813 | 339 | H>R | No | Ensembl | |
| rs1671849973 | 339 | H>Y | No | Ensembl | |
| rs1671850957 | 340 | G>C | No | TOPMed | |
| TCGA novel | 340 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs143591778 | 341 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764850926 | 341 | T>I | No |
ExAC gnomAD |
|
| rs1672283070 | 342 | A>D | No | Ensembl | |
| rs775329548 | 342 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs775329548 | 342 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1672283249 | 343 | N>I | No | gnomAD | |
| rs776506630 | 344 | R>Q | No |
ExAC gnomAD |
|
| rs768389831 | 344 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1672283934 | 345 | P>S | No | Ensembl | |
| rs2148629743 | 348 | K>M | No | Ensembl | |
| rs1237676176 | 348 | K>N | No |
TOPMed gnomAD |
|
| rs1394863486 | 349 | L>F | No | TOPMed | |
| TCGA novel | 355 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772980550 | 360 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs772980550 | 360 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1243294080 | 361 | E>Q | No | gnomAD | |
| rs1672286215 | 362 | E>* | No | Ensembl | |
| rs1487688499 | 364 | K>R | No |
TOPMed gnomAD |
|
| rs1185030325 | 365 | C>F | No | gnomAD | |
| rs1185030325 | 365 | C>Y | No | gnomAD | |
| rs200363543 | 367 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs377365765 | 371 | H>Y | No |
ESP TOPMed gnomAD |
|
| rs1672674282 | 372 | D>E | No | gnomAD | |
| rs1317949940 | 373 | R>G | No | TOPMed | |
| TCGA novel | 373 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1672674563 | 374 | T>I | No | TOPMed | |
| rs1385595444 | 375 | Y>* | No |
TOPMed gnomAD |
|
| rs778859500 | 375 | Y>F | No |
ExAC gnomAD |
|
| rs1672675493 | 376 | H>Q | No | Ensembl | |
| rs1279573458 | 379 | A>V | No | gnomAD | |
| TCGA novel | 380 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1217689420 | 382 | E>K | No | gnomAD | |
| rs1263341202 | 383 | Q>R | No | gnomAD | |
| rs1302121738 | 384 | E>D | No | TOPMed | |
| rs1672677128 | 385 | C>Y | No | Ensembl | |
| rs754985599 | 386 | Q>L | No |
ExAC gnomAD |
|
| rs1487381984 | 388 | W>* | No | gnomAD | |
| rs1672688834 | 389 | M>L | No | gnomAD | |
| rs2148651059 | 390 | S>A | No | Ensembl | |
| rs766557739 | 390 | S>F | No |
ExAC gnomAD |
|
| rs1196961133 | 395 | S>G | No | gnomAD | |
| rs756049199 | 396 | K>T | No |
ExAC gnomAD |
|
| COSM1023646 | 397 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1440039817 | 402 | N>D | No | gnomAD | |
| rs1476470002 | 402 | N>K | No |
TOPMed gnomAD |
|
| rs777460734 | 402 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs967125520 | 408 | D>E | No |
TOPMed gnomAD |
|
| rs749063387 | 409 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs749063387 | 409 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs1392202776 | 410 | T>A | No | gnomAD | |
| rs756982587 | 410 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs922914963 | 416 | V>I | No |
TOPMed gnomAD |
|
| rs922914963 | 416 | V>L | No |
TOPMed gnomAD |
|
| rs1672692933 | 417 | Q>R | No | gnomAD | |
| COSM278996 | 418 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778665901 | 418 | E>Q | No |
ExAC gnomAD |
|
| rs745513919 | 421 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs771627102 | 423 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs946748309 | 424 | I>V | No | Ensembl | |
| rs747514583 | 426 | E>K | No |
ExAC gnomAD |
|
| rs1180285326 | 427 | V>A | No |
TOPMed gnomAD |
|
| rs1458090241 | 427 | V>L | No | gnomAD | |
| rs1458090241 | 427 | V>M | No | gnomAD | |
| rs369933015 | 428 | Q>R | No |
ESP TOPMed |
|
|
COSM3673760 rs1672695059 |
429 | R>M | prostate [Cosmic] | No |
cosmic curated gnomAD |
| rs1439037818 | 431 | T>A | No | gnomAD | |
| rs138272038 | 431 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1439037818 | 431 | T>S | No | gnomAD | |
| rs762284748 | 432 | G>D | No |
ExAC gnomAD |
|
| rs1162345585 | 433 | N>D | No | gnomAD | |
| rs765517506 | 433 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1392150796 | 434 | D>H | No |
TOPMed gnomAD |
|
| rs1392150796 | 434 | D>N | No |
TOPMed gnomAD |
|
| rs1375083080 | 435 | V>D | No | gnomAD | |
|
COSM1023647 rs763213826 |
435 | V>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs766575943 | 439 | C>R | No |
ExAC gnomAD |
|
| rs756143980 | 441 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs764142432 | 441 | A>V | No |
ExAC gnomAD |
|
| rs1346332095 | 444 | P>R | No |
TOPMed gnomAD |
|
| rs2148658889 | 445 | T>A | No | Ensembl | |
| rs1672883256 | 446 | W>R | No | Ensembl | |
| COSM3799263 | 448 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754576608 | 449 | T>I | No |
ExAC gnomAD |
|
| rs780512938 | 450 | N>S | No |
ExAC gnomAD |
|
| rs1270085352 | 451 | L>V | No |
TOPMed gnomAD |
|
| COSM3426754 | 452 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1672885234 | 452 | G>S | No | TOPMed | |
| rs1672885716 | 453 | I>T | No | TOPMed | |
| rs770262709 | 453 | I>V | No |
TOPMed gnomAD |
|
| COSM4096247 | 455 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs367789969 | 456 | C>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1312777150 | 457 | I>L | No | gnomAD | |
| rs770165709 | 458 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1672887305 | 460 | S>F | No | TOPMed | |
| rs111321820 | 461 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs879098575 | 462 | I>F | No | Ensembl | |
| TCGA novel | 463 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771393279 | 464 | R>* | No |
ExAC gnomAD |
|
| rs1303160738 | 464 | R>Q | No | gnomAD | |
| rs1672889080 | 465 | E>V | No | Ensembl | |
| rs1210126688 | 466 | L>P | No | gnomAD | |
| TCGA novel | 468 | V>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1672890138 | 468 | V>F | No | TOPMed | |
| COSM1023648 | 469 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs759662012 | 469 | H>R | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 471 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1213839391 | 473 | M>V | No | gnomAD | |
| rs1488617657 | 477 | T>A | No | gnomAD | |
| rs775364480 | 479 | D>N | No |
ExAC gnomAD |
|
| rs201963992 | 480 | V>A | No |
1000Genomes ExAC |
|
| rs1672892582 | 480 | V>I | No | Ensembl | |
| rs2148659212 | 484 | S>F | No | Ensembl | |
| TCGA novel | 485 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1431803642 | 485 | E>K | No |
TOPMed gnomAD |
|
| rs1173623927 | 487 | L>P | No | gnomAD | |
|
COSM1023649 rs749082822 COSM722907 |
488 | L>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs775657980 | 488 | L>P | No |
ExAC gnomAD |
|
| rs150779008 | 489 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs368092375 | 490 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs762821900 | 492 | I>T | No |
ExAC gnomAD |
|
| rs1243503484 | 495 | A>E | No | TOPMed | |
| rs1558373903 | 495 | A>S | No | Ensembl | |
| TCGA novel | 496 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1673650948 | 500 | I>V | No | TOPMed | |
| rs759254805 | 501 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs767128169 | 501 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs759254805 | 501 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1260673072 | 502 | E>Q | No |
TOPMed gnomAD |
|
| rs1673652283 | 503 | C>R | No | Ensembl | |
| rs974142027 | 504 | C>R | No | Ensembl | |
| COSM4916189 | 504 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1205546289 | 506 | P>Q | No |
TOPMed gnomAD |
|
| rs1673653612 | 507 | A>P | No | Ensembl | |
| rs755649539 | 511 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs1673654447 | 511 | V>I | No | Ensembl | |
| rs918661389 | 512 | K>R | No |
TOPMed gnomAD |
|
| rs754408037 | 513 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs757768649 | 515 | P>L | No |
ExAC gnomAD |
|
| rs757768649 | 515 | P>R | No |
ExAC gnomAD |
|
| rs1673656289 | 517 | S>N | No |
TOPMed gnomAD |
|
| rs1673657409 | 518 | D>E | No | Ensembl | |
| rs577456546 | 518 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs577456546 | 518 | D>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs748276692 | 520 | N>K | No |
ExAC gnomAD |
|
| rs149961218 | 520 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1646909514 | 520 | N>Y | No | TOPMed | |
| rs1183774380 | 521 | A>E | No | TOPMed | |
| rs1279476654 | 521 | A>T | No | gnomAD | |
| COSM1409937 | 522 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1337971025 | 522 | R>K | No | gnomAD | |
| rs769838212 | 523 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs200225020 | 524 | D>N | No |
ExAC gnomAD |
|
| rs745807252 | 526 | I>V | No |
ExAC gnomAD |
|
| rs771778856 | 527 | T>I | No |
ExAC gnomAD |
|
| rs369275807 | 528 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs528629388 | 531 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1445521533 | 532 | E>K | No |
TOPMed gnomAD |
|
| rs1445521533 | 532 | E>Q | No |
TOPMed gnomAD |
|
| rs372627242 | 533 | R>G | No |
ESP ExAC gnomAD |
|
| rs764798795 | 533 | R>K | No |
ExAC gnomAD |
|
| rs1365755412 | 533 | R>S | No | gnomAD | |
| rs1478882767 | 534 | R>S | No |
TOPMed gnomAD |
|
| rs750949098 | 535 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs201505810 | 536 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs201505810 | 536 | A>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 536 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752915609 | 540 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs377096338 | 540 | H>Y | No |
ESP ExAC TOPMed gnomAD |
|
| COSM722906 | 541 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1332097865 | 541 | A>T | No |
TOPMed gnomAD |
|
|
rs188552630 COSM166443 |
541 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| rs1674264241 | 543 | N>Y | No | TOPMed | |
| rs568744068 | 544 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1288315741 | 544 | A>V | No | gnomAD | |
| rs768539515 | 545 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs1674265318 | 545 | A>T | No | TOPMed | |
| rs768539515 | 545 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1453480982 | 546 | K>N | No |
TOPMed gnomAD |
|
| rs1674265988 | 546 | K>R | No | TOPMed | |
| rs1674265988 | 546 | K>T | No | TOPMed | |
| rs1674266981 | 548 | H>Q | No | gnomAD | |
| TCGA novel | 548 | H>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1674267328 | 549 | S>G | No |
TOPMed gnomAD |
|
| rs370518116 | 549 | S>N | No |
ESP ExAC gnomAD |
|
| rs201158432 | 551 | C>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs565383190 | 552 | E>* | No |
ExAC gnomAD |
|
| rs565383190 | 552 | E>K | No |
ExAC gnomAD |
|
| rs1558380563 | 553 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs759964900 | 553 | A>V | No |
ExAC gnomAD |
|
| rs370967927 | 554 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs370967927 | 554 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
|
rs752933805 COSM1409938 |
556 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1674269760 | 557 | R>* | No | Ensembl | |
| rs1489757091 | 557 | R>G | No |
TOPMed gnomAD |
|
| rs1411847254 | 557 | R>K | No | gnomAD | |
| rs753903290 | 558 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs150271421 | 558 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs150271421 | 558 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs757258595 | 559 | I>V | No |
ExAC gnomAD |
|
| rs780076385 | 561 | G>E | No |
ExAC gnomAD |
|
| rs1334115239 | 561 | G>R | No |
TOPMed gnomAD |
|
| rs780076385 | 561 | G>V | No |
ExAC gnomAD |
|
| rs1572579005 | 562 | L>F | No | Ensembl | |
| COSM3991498 | 565 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1572579028 | 565 | A>T | No | Ensembl | |
| rs143304380 | 565 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1458815828 | 567 | A>S | No | gnomAD | |
| rs977096494 | 568 | D>G | No | TOPMed | |
| rs747805201 | 568 | D>N | No |
ExAC gnomAD |
|
| rs1009077989 | 571 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs772719724 | 571 | D>N | No |
ExAC TOPMed gnomAD |
|
|
rs553146291 COSM1023651 |
573 | T>M | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs759981241 | 575 | K>E | No |
ExAC gnomAD |
|
| rs767875142 | 575 | K>N | No |
ExAC gnomAD |
|
| COSM3991499 | 576 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3583944 rs942839221 |
577 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1454014023 | 578 | L>R | No | TOPMed | |
| rs370054861 | 580 | N>S | No |
ESP TOPMed gnomAD |
|
| rs1270207094 | 581 | G>E | No | TOPMed | |
| rs535259662 | 581 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs367685758 | 582 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1263222293 | 584 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1472623280 | 584 | P>S | No | gnomAD | |
| rs752573155 | 585 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1674447925 | 585 | D>N | No | TOPMed | |
| rs755995156 | 587 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1033259285 | 592 | A>S | No |
TOPMed gnomAD |
|
| rs752797890 | 592 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1429288882 | 595 | S>F | No |
TOPMed gnomAD |
|
|
COSM443358 rs1197348274 |
596 | V>M | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1674450901 | 597 | D>Y | No | TOPMed | |
| rs1010220755 | 598 | R>* | No | gnomAD | |
| rs1010220755 | 598 | R>G | No | gnomAD | |
| COSM3583945 | 598 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3408032 rs919010572 |
598 | R>Q | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1674451627 | 600 | S>C | No |
TOPMed gnomAD |
|
| rs1335552268 | 601 | L>P | No |
TOPMed gnomAD |
|
| rs771535117 | 603 | I>M | No |
ExAC gnomAD |
|
| rs745428651 | 603 | I>V | No |
ExAC gnomAD |
|
| rs769078162 | 609 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA |
| rs769002716 | 613 | N>S | No |
ExAC gnomAD |
|
| rs144922072 | 614 | L>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs1674616208 | 615 | D>G | No | Ensembl | |
| rs1674616382 | 617 | Q>K | No | Ensembl | |
| rs143361746 | 617 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1436798909 | 620 | K>E | No | TOPMed | |
| rs199689150 | 620 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1674617735 | 621 | G>D | No | TOPMed | |
| rs1175584680 | 622 | S>N | No |
TOPMed gnomAD |
|
| rs1674618890 | 625 | L>M | No |
TOPMed gnomAD |
|
| rs1167329801 | 626 | H>R | No | gnomAD | |
| rs1674619280 | 626 | H>Y | No | Ensembl | |
| rs1572591332 | 627 | Y>C | No | Ensembl | |
| rs1674619975 | 631 | T>S | No | gnomAD | |
| rs774257242 | 632 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1674620497 | 633 | N>D | No | Ensembl | |
| rs199625106 | 633 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs763984768 | 634 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs761659270 | 635 | E>K | No |
ExAC gnomAD |
|
| rs1254189867 | 635 | E>V | No | gnomAD | |
| rs1234828972 | 636 | C>F | No | gnomAD | |
| rs866735459 | 637 | L>F | No | Ensembl | |
| rs757978691 | 642 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs757978691 | 642 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs757978691 | 642 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs750088370 | 642 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1274100038 | 643 | G>R | No | gnomAD | |
| TCGA novel | 644 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1022357500 | 645 | A>T | No | Ensembl | |
| rs1340457403 | 645 | A>V | No |
TOPMed gnomAD |
|
| TCGA novel | 647 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs547897677 | 648 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs1572591628 | 649 | I>T | No | Ensembl | |
| rs1674625812 | 649 | I>V | No | Ensembl | |
| rs1674626197 | 650 | A>P | No | gnomAD | |
| rs1674626197 | 650 | A>T | No | gnomAD | |
| rs1674773576 | 652 | E>K | No | Ensembl | |
| rs1674773576 | 652 | E>Q | No | Ensembl | |
| rs780041018 | 652 | E>V | No |
ExAC gnomAD |
|
| rs369188848 | 654 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1278337598 | 656 | T>A | No |
TOPMed gnomAD |
|
| rs769669019 | 656 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs573435760 | 657 | P>A | No | 1000Genomes | |
|
rs773110660 COSM1161376 |
657 | P>L | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs1394106354 | 658 | L>P | No |
TOPMed gnomAD |
|
| rs1253338764 | 660 | I>M | No | gnomAD | |
| rs1192248606 | 660 | I>T | No |
TOPMed gnomAD |
|
| rs542556113 | 660 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs773891052 | 661 | A>S | No |
ExAC gnomAD |
|
| rs1303375967 | 662 | K>E | No |
TOPMed gnomAD |
|
| rs1674776948 | 662 | K>N | No | TOPMed | |
| rs1277043345 | 662 | K>R | No | gnomAD | |
| rs759162329 | 663 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs766970654 | 663 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs201862499 | 664 | L>F | No |
1000Genomes ExAC gnomAD |
|
| rs760243987 | 665 | K>R | No |
ExAC gnomAD |
|
| rs139908630 | 666 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1382330988 | 666 | H>R | No |
TOPMed gnomAD |
|
| rs757615953 | 667 | E>K | No |
ExAC gnomAD |
|
| rs757615953 | 667 | E>Q | No |
ExAC gnomAD |
|
| rs1425929546 | 668 | H>L | No | Ensembl | |
| rs796793555 | 670 | E>K | No | gnomAD | |
| COSM3840236 | 671 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750612400 | 672 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs757172494 | 674 | T>S | No |
ExAC gnomAD |
|
| rs1168715150 | 675 | Q>H | No |
TOPMed gnomAD |
|
| rs373169062 | 676 | A>D | No |
ESP ExAC gnomAD |
|
| rs373169062 | 676 | A>V | No |
ESP ExAC gnomAD |
|
| rs1176382133 | 677 | L>F | No | Ensembl | |
| rs377423224 | 678 | S>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs377423224 | 678 | S>P | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 679 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs539938494 | 681 | F>C | No |
ExAC TOPMed gnomAD |
|
| rs141891003 | 681 | F>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs539938494 | 681 | F>S | No |
ExAC TOPMed gnomAD |
|
| rs539938494 | 681 | F>Y | No |
ExAC TOPMed gnomAD |
|
| rs746597674 | 683 | S>C | No |
ExAC gnomAD |
|
| COSM6092414 | 683 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776163224 | 685 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs776163224 | 685 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs776163224 | 685 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs765819952 | 687 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs765819952 | 687 | V>L | No |
ExAC TOPMed gnomAD |
|
| COSM3840237 | 692 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6092413 | 695 | H>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1675183472 | 695 | H>R | No | Ensembl | |
| rs868055368 | 696 | E>G | No | Ensembl | |
| rs1675183827 | 696 | E>K | No | TOPMed | |
| rs766672954 | 703 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs891365261 | 705 | M>V | No |
TOPMed gnomAD |
|
| TCGA novel | 707 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762271258 | 707 | E>G | No |
TOPMed gnomAD |
|
| rs755154467 | 709 | L>F | No |
ExAC gnomAD |
|
| rs201192378 | 709 | L>S | No |
ExAC TOPMed gnomAD |
|
| rs1675445578 | 711 | P>L | No |
TOPMed gnomAD |
|
| rs750387025 | 712 | S>N | No |
ExAC gnomAD |
|
| rs764019472 | 712 | S>R | No |
ExAC gnomAD |
|
| rs1292928374 | 713 | P>A | No |
TOPMed gnomAD |
|
| rs780014875 | 714 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs758369349 | 714 | N>S | No |
ExAC gnomAD |
|
| rs754786610 | 715 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs372277363 | 715 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs762859607 | 716 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs780964858 | 716 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs150928429 | 718 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs374330784 | 719 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs147939174 | 719 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs141714475 | 722 | S>I | No |
ESP ExAC TOPMed gnomAD |
|
| COSM1409940 | 722 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs141714475 | 722 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs774812740 | 723 | F>L | No |
ExAC gnomAD |
|
| rs537740923 | 726 | L>V | No | TOPMed | |
| rs1464718749 | 727 | G>D | No | gnomAD | |
| rs759962971 | 729 | N>K | No |
ExAC gnomAD |
|
| rs1489483956 | 729 | N>S | No | Ensembl | |
| COSM4096250 | 730 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs775799113 | 731 | L>V | No |
ExAC gnomAD |
|
| rs2148781556 | 732 | Q>H | No | Ensembl | |
| rs201291876 | 735 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs201291876 | 735 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs761961153 | 736 | V>I | No |
ExAC gnomAD |
|
| rs1351744585 | 737 | S>C | No |
TOPMed gnomAD |
|
| rs766456811 | 741 | D>V | No |
ExAC gnomAD |
|
| rs751538314 | 743 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs1327587323 | 744 | N>S | No | gnomAD | |
| rs142347590 | 746 | A>T | No |
ESP ExAC gnomAD |
|
| rs1675452878 | 746 | A>V | No | Ensembl | |
|
VAR_020307 rs2715860 |
748 | E>D | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1675453609 | 748 | E>Q | No | Ensembl | |
| rs557736859 | 751 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1221780266 | 752 | A>V | No |
TOPMed gnomAD |
|
| rs1558394240 | 753 | F>I | No | Ensembl | |
| rs1054987968 | 753 | F>Y | No | gnomAD | |
| rs200731060 | 754 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1010512784 | 754 | M>L | No |
TOPMed gnomAD |
|
| rs748839001 | 754 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs1221436985 | 755 | P>S | No | gnomAD | |
| rs1458294020 | 757 | I>V | No | gnomAD | |
| rs772485854 | 759 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs746320644 | 759 | Q>L | No |
ExAC gnomAD |
|
| rs1675459586 | 761 | E>K | No | gnomAD | |
| rs1411510680 | 762 | T>I | No |
TOPMed gnomAD |
|
| rs866570995 | 763 | Y>* | No |
ESP TOPMed |
|
| COSM3991500 | 763 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs760971797 | 764 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs369077105 | 766 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs369077105 | 766 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1675462771 | 767 | L>P | No | TOPMed | |
| rs1171053543 | 768 | S>I | No |
TOPMed gnomAD |
|
| rs1171053543 | 768 | S>N | No |
TOPMed gnomAD |
|
| rs1171053543 | 768 | S>T | No |
TOPMed gnomAD |
|
| rs1572616022 | 770 | S>C | No | Ensembl | |
| rs765394549 | 770 | S>N | No |
ExAC gnomAD |
|
| rs751556644 | 770 | S>R | No |
ExAC gnomAD |
|
| rs767368573 | 771 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs759351359 | 771 | P>S | No | ExAC | |
| rs1295546667 | 773 | P>S | No |
TOPMed gnomAD |
|
| rs374864722 | 774 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
| COSM6158952 | 774 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs374864722 COSM5354147 |
774 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| COSM4896600 | 775 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs752226584 | 775 | Q>K | No | Ensembl | |
| rs756776792 | 776 | P>A | No |
ExAC gnomAD |
|
| COSM3583946 | 776 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756776792 | 776 | P>T | No |
ExAC gnomAD |
|
| rs1203146298 | 777 | A>T | No |
TOPMed gnomAD |
|
| COSM1023652 | 779 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs577577298 | 779 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs746414062 | 779 | P>S | No |
ExAC gnomAD |
|
| TCGA novel | 780 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2148782422 | 780 | S>G | No | Ensembl | |
| rs2148782422 | 780 | S>R | No | Ensembl | |
| rs1572616253 | 781 | T>P | No | Ensembl | |
| rs1472335655 | 782 | T>A | No | gnomAD | |
| rs369304402 | 782 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs369304402 | 782 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1421608961 | 783 | S>G | No |
TOPMed gnomAD |
|
| rs748322781 | 784 | A>D | No |
ExAC TOPMed |
|
| rs376816649 | 784 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs376816649 | 784 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs748322781 | 784 | A>V | No |
ExAC TOPMed |
|
| COSM2823963 | 785 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770025045 | 785 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1167472410 | 785 | P>S | No |
TOPMed gnomAD |
|
| rs1167472410 | 785 | P>T | No |
TOPMed gnomAD |
|
|
COSM2823965 rs75701656 |
786 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs75701656 | 786 | P>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs75701656 | 786 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| COSM2823961 | 786 | P>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3583947 | 786 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs773893016 COSM1409941 |
787 | L>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| TCGA novel | 787 | L>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs917466878 | 788 | P>L | No | gnomAD | |
| rs917466878 | 788 | P>R | No | gnomAD | |
| rs573529193 | 790 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM180355 rs1139804 |
790 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs573529193 | 790 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2148782769 | 792 | V>G | No | Ensembl | |
| rs1364722063 | 792 | V>L | No | gnomAD | |
| rs756858723 | 793 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs756858723 | 793 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs764745850 | 794 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1675477209 | 794 | K>R | No |
TOPMed gnomAD |
|
| rs542793203 | 795 | V>L | No |
1000Genomes ExAC gnomAD |
|
| rs973997010 | 796 | Q>E | No | Ensembl | |
| rs752012368 | 796 | Q>H | No |
ExAC gnomAD |
|
| rs377379521 | 797 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs888843716 | 798 | A>P | No |
TOPMed gnomAD |
|
| rs753153351 | 799 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs756544771 | 800 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs777916995 | 801 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs777916995 | 801 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1473112876 | 801 | A>V | No | gnomAD | |
| rs749471675 | 802 | N>D | No |
ExAC gnomAD |
|
| rs1321142469 | 805 | W>* | No | TOPMed | |
| rs1321142469 | 805 | W>C | No | TOPMed | |
| rs779015334 | 809 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs1451231535 | 809 | S>F | No | TOPMed | |
| rs779015334 | 809 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs1675682476 | 810 | V>L | No | TOPMed | |
| rs1227595733 | 811 | S>G | No | gnomAD | |
| rs746966262 | 811 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1469808155 | 812 | V>A | No |
TOPMed gnomAD |
|
| rs1414654794 | 812 | V>M | No |
TOPMed gnomAD |
|
| COSM1023653 | 813 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs202021086 | 814 | G>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs374854043 | 814 | G>S | No |
ESP TOPMed gnomAD |
|
| rs1675685212 | 816 | S>G | No | gnomAD | |
| rs1558396915 | 816 | S>N | No | Ensembl | |
| COSM722904 | 816 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs766345147 | 817 | R>Q | No |
TOPMed gnomAD |
|
|
rs950938561 COSM1183710 |
817 | R>W | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs1675686702 | 819 | R>* | No |
TOPMed gnomAD |
|
| rs761661220 | 819 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs769615812 | 821 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs765837008 | 822 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs762599531 | 822 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs939364346 | 824 | P>L | No | TOPMed | |
| rs1348892147 | 826 | A>T | No |
TOPMed gnomAD |
|
| rs374621495 | 827 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs374621495 | 827 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1675689774 | 828 | H>Q | No | Ensembl | |
| rs1323283074 | 829 | P>S | No | gnomAD | |
|
rs753245120 COSM477735 |
830 | P>L | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1298187638 | 830 | P>S | No | Ensembl | |
| rs546165553 | 833 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs778136472 | 833 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs778136472 | 833 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs546165553 | 833 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs546165553 | 833 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs754041988 | 835 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs757456352 | 835 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs757456352 | 835 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs908669209 | 836 | V>E | No |
TOPMed gnomAD |
|
|
rs745984762 COSM4096253 |
836 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs781162123 | 838 | S>C | No |
ExAC gnomAD |
|
| rs781162123 | 838 | S>F | No |
ExAC gnomAD |
|
| rs772131831 | 838 | S>T | No |
ExAC TOPMed gnomAD |
|
| COSM6158951 | 838 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1675692792 | 840 | N>D | No |
TOPMed gnomAD |
|
| COSM477736 | 841 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs745444278 | 841 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs745444278 | 841 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs978507461 | 843 | T>N | No | gnomAD | |
| rs1310129298 | 844 | P>L | No | gnomAD | |
| rs149535322 | 844 | P>S | No |
ESP TOPMed gnomAD |
|
| rs149535322 | 844 | P>T | No |
ESP TOPMed gnomAD |
|
| rs764705597 | 845 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1572628200 | 845 | T>P | No | Ensembl | |
| rs765530634 | 846 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs762299157 | 846 | P>S | No |
ExAC gnomAD |
|
| rs1477025802 | 847 | P>L | No | TOPMed | |
| rs1213781026 | 848 | P>A | No | TOPMed | |
| rs1191871175 | 848 | P>L | No |
TOPMed gnomAD |
|
| rs1191871175 | 848 | P>R | No |
TOPMed gnomAD |
|
|
rs751678453 COSM1690188 |
849 | P>L | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs372781516 | 849 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs113489643 | 850 | V>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2148802961 | 850 | V>G | No | Ensembl | |
| rs113489643 | 850 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs749120423 | 851 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1387841070 | 852 | K>R | No | gnomAD | |
| rs1441513378 | 853 | T>M | No |
TOPMed gnomAD |
|
| rs1304181554 | 854 | P>T | No | TOPMed | |
| rs921263279 | 855 | S>C | No |
TOPMed gnomAD |
|
| rs921263279 | 855 | S>G | No |
TOPMed gnomAD |
|
| rs1218341509 | 855 | S>I | No | gnomAD | |
| TCGA novel | 855 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs921263279 | 855 | S>R | No |
TOPMed gnomAD |
|
| rs778807638 | 855 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs771896140 | 856 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs771896140 | 856 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1048483756 | 857 | M>I | No | gnomAD | |
| rs1266573413 | 857 | M>T | No | gnomAD | |
| rs768042053 | 859 | A>T | No |
ExAC gnomAD |
|
|
rs1487553544 COSM3991501 |
860 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs147371192 | 863 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs147371192 | 863 | P>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs147371192 | 863 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs763281925 | 865 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1036858659 | 866 | P>A | No | gnomAD | |
| rs1036858659 | 866 | P>S | No | gnomAD | |
| rs1036858659 | 866 | P>T | No | gnomAD | |
| rs1675885381 | 867 | A>S | No | Ensembl | |
| rs867683967 | 867 | A>V | No | Ensembl | |
|
RCV000884975 rs145511943 |
868 | P>L | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs895678415 | 868 | P>S | No | Ensembl | |
| rs868565516 | 869 | P>L | No | gnomAD | |
| rs868565516 | 869 | P>R | No | gnomAD | |
| rs1347993866 | 870 | G>R | No | gnomAD | |
| rs1675887186 | 872 | S>L | No |
TOPMed gnomAD |
|
| rs1298214814 | 872 | S>T | No | gnomAD | |
| rs141123652 | 873 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs2148803325 | 874 | I>S | No | Ensembl | |
| rs199777278 | 875 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs778968834 | 875 | R>S | No |
ExAC gnomAD |
|
| rs201853311 | 876 | P>S | No |
1000Genomes ExAC gnomAD |
|
| rs1292647387 | 877 | P>Q | No | gnomAD | |
| rs1369562111 | 878 | P>A | No | gnomAD | |
| rs546453649 | 878 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs746588714 | 880 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs746588714 | 880 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs768219520 | 881 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs768219520 | 881 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs768219520 | 881 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1473013426 | 883 | P>A | No |
TOPMed gnomAD |
|
| rs879384204 | 883 | P>L | No |
TOPMed gnomAD |
|
| rs1473013426 | 883 | P>S | No |
TOPMed gnomAD |
|
| rs1473013426 | 883 | P>T | No |
TOPMed gnomAD |
|
| rs1411577843 | 884 | P>L | No | gnomAD | |
| rs748713553 | 886 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs950087853 | 886 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs370099908 | 888 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs370099908 | 888 | P>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs535411025 | 888 | P>S | No |
1000Genomes TOPMed gnomAD |
|
| rs535411025 | 888 | P>T | No |
1000Genomes TOPMed gnomAD |
|
| rs898105073 | 889 | Q>R | No |
TOPMed gnomAD |
|
| rs763365115 | 890 | K>E | No |
ExAC gnomAD |
|
| rs763365115 | 890 | K>Q | No |
ExAC gnomAD |
|
| rs1675893922 | 891 | K>M | No | Ensembl | |
| rs1675893737 | 891 | K>Q | No | TOPMed | |
| rs771226301 | 892 | P>R | No |
ExAC gnomAD |
|
| rs1377682660 | 892 | P>S | No |
TOPMed gnomAD |
|
| rs1298511982 | 893 | A>V | No |
TOPMed gnomAD |
|
| rs372519755 | 894 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs759635089 | 894 | P>T | No |
ExAC gnomAD |
|
| rs766220109 | 896 | A>T | No |
ExAC gnomAD |
|
| rs1438630751 | 897 | D>E | No |
TOPMed gnomAD |
|
| rs751362123 | 898 | K>R | No |
ExAC gnomAD |
|
| rs1344531539 | 900 | T>S | No | gnomAD | |
| COSM3426755 | 901 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754772345 | 901 | P>S | No |
ExAC gnomAD |
|
| rs1402581088 | 902 | L>M | No | TOPMed | |
| rs1233263121 | 904 | N>D | No | gnomAD | |
| rs1327042155 | 904 | N>K | No |
TOPMed gnomAD |
|
| rs1676492466 | 904 | N>S | No | TOPMed | |
| rs755623988 | 906 | G>R | No |
ExAC gnomAD |
|
| rs560173303 | 906 | G>V | No |
1000Genomes TOPMed gnomAD |
|
| rs777223474 | 908 | P>A | No |
ExAC gnomAD |
|
| rs749814599 | 908 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1477542072 | 909 | R>G | No |
TOPMed gnomAD |
|
| TCGA novel | 909 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1676494394 | 911 | P>L | No | TOPMed | |
| rs763711331 | 913 | D>A | No |
ExAC gnomAD |
|
| rs763711331 | 913 | D>V | No |
ExAC gnomAD |
|
| rs745520035 | 913 | D>Y | No | Ensembl | |
| rs1161574184 | 915 | S>T | No | gnomAD | |
| rs1676591209 | 916 | A>V | No | Ensembl | |
| rs372970440 | 917 | T>A | No |
ESP TOPMed gnomAD |
|
| rs200319277 | 917 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1310096917 | 919 | A>G | No | gnomAD | |
| rs1676592022 | 919 | A>P | No | Ensembl | |
| rs2148829949 | 920 | L>V | No | Ensembl | |
| rs1558406585 | 921 | G>C | No | Ensembl | |
| rs1676592839 | 922 | P>A | No | Ensembl | |
| rs562485771 | 922 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs562485771 | 922 | P>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1313105085 | 924 | S>F | No | gnomAD | |
| rs772764371 | 925 | N>K | No | Ensembl | |
| rs376887717 | 925 | N>S | No |
ESP ExAC gnomAD |
|
| rs747259935 | 926 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs780528589 | 926 | A>T | No |
ExAC gnomAD |
|
| rs1272078524 | 927 | M>I | No | gnomAD | |
| rs41264169 | 927 | M>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1316440181 | 928 | V>I | No | TOPMed | |
| rs146002507 | 931 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM5728244 | 932 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 932 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 933 | A>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774160777 | 933 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs1676596499 | 934 | P>S | No | gnomAD | |
| rs1676597037 | 937 | R>G | No | Ensembl | |
| rs1676597401 | 938 | K>N | No | Ensembl | |
| rs775310172 | 939 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs371545473 | 940 | Q>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs753472117 | 940 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs1676644259 | 945 | K>R | No | gnomAD | |
| rs777824207 | 946 | P>A | No |
ExAC gnomAD |
|
| rs777824207 | 946 | P>S | No |
ExAC gnomAD |
|
| rs1676644888 | 947 | K>E | No | TOPMed | |
| rs1676644888 | 947 | K>Q | No | TOPMed | |
| rs1676645522 | 948 | R>Q | No |
TOPMed gnomAD |
|
| rs1676645795 | 950 | K>E | No | Ensembl | |
| TCGA novel | 951 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746884992 | 953 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs1572648164 | 953 | Y>H | No |
TOPMed gnomAD |
|
| rs746884992 | 953 | Y>S | No |
ExAC TOPMed gnomAD |
|
| rs2148831930 | 954 | N>S | No | 1000Genomes | |
| rs1156870210 | 955 | C>S | No | gnomAD | |
| rs768474225 | 959 | N>K | No |
ExAC gnomAD |
|
| rs1373175739 | 960 | P>S | No |
TOPMed gnomAD |
|
| rs1373175739 | 960 | P>T | No |
TOPMed gnomAD |
|
| rs1403922814 | 961 | D>N | No |
TOPMed gnomAD |
|
| rs1283122651 | 961 | D>V | No | gnomAD | |
| rs762775912 | 964 | T>N | No |
TOPMed gnomAD |
|
| TCGA novel | 965 | F>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs541086489 | 965 | F>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3583948 rs762610686 |
966 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs765931180 | 967 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs990022605 | 968 | G>E | No |
TOPMed gnomAD |
|
|
rs1175223446 COSM4663593 |
973 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| TCGA novel | 974 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs373040649 | 975 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
| rs373040649 | 975 | G>W | No |
ESP TOPMed gnomAD |
|
| rs1676654631 | 976 | E>G | No | Ensembl | |
| rs768114555 | 977 | E>K | No |
ExAC gnomAD |
|
| rs1423670164 | 978 | D>E | No | gnomAD | |
| rs201750537 | 979 | Q>E | No |
1000Genomes ExAC |
|
| rs377390154 | 979 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs1308275653 | 979 | Q>R | No | gnomAD | |
| rs1169750170 | 980 | E>V | No |
TOPMed gnomAD |
|
| rs1344635502 | 983 | I>T | No | gnomAD | |
| rs754125034 | 983 | I>V | No |
ExAC gnomAD |
|
| rs761976416 | 986 | I>V | No |
ExAC TOPMed |
|
| rs1676907278 | 988 | G>E | No | Ensembl | |
| rs1272104088 | 989 | D>A | No | gnomAD | |
| COSM3364853 | 989 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750545699 | 991 | G>A | No |
ExAC gnomAD |
|
| rs1232194752 | 991 | G>R | No | gnomAD | |
| rs758469629 | 992 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs781249376 | 992 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1676909553 | 995 | A>T | No |
TOPMed gnomAD |
|
| COSM3695677 | 996 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1676909818 | 996 | F>V | No | Ensembl | |
| rs1392714225 | 997 | P>L | No | gnomAD | |
| COSM1409942 | 997 | P>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1249338768 | 998 | V>M | No | gnomAD | |
| rs1474255546 | 1000 | F>V | No | gnomAD | |
| rs34527258 | 1004 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs749068561 | 1004 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs778703148 | 1005 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1217286307 | 1007 | D>R | No | TOPMed |
No associated diseases with O43150
7 regional properties for O43150
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Arf GTPase activating protein | 421 - 543 | IPR001164 |
| domain | SH3 domain | 944 - 1006 | IPR001452 |
| domain | Pleckstrin homology domain | 305 - 399 | IPR001849 |
| repeat | Ankyrin repeat | 584 - 683 | IPR002110 |
| domain | BAR domain | 33 - 266 | IPR004148 |
| domain | ASAP2, SH3 domain | 948 - 1003 | IPR035677 |
| domain | ASAP, PH domain | 297 - 403 | IPR037844 |
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Golgi cisterna membrane | The lipid bilayer surrounding any of the thin, flattened compartments that form the central portion of the Golgi complex. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| metal ion binding | Binding to a metal ion. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A5PK26 | ACAP1 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 | Bos taurus (Bovine) | SS |
| O97902 | ASAP1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Bos taurus (Bovine) | SS |
| A1Z7A6 | Asap | ArfGAP with SH3 domain, ANK repeat and PH domain-containing protein | Drosophila melanogaster (Fruit fly) | SS |
| Q15027 | ACAP1 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 | Homo sapiens (Human) | EV |
| Q15057 | ACAP2 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 | Homo sapiens (Human) | PR |
| Q8TDY4 | ASAP3 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 | Homo sapiens (Human) | SS |
| Q9ULH1 | ASAP1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Homo sapiens (Human) | EV |
| Q8K2H4 | Acap1 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 | Mus musculus (Mouse) | SS |
| Q6ZQK5 | Acap2 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 | Mus musculus (Mouse) | PR |
| Q5U464 | Asap3 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 | Mus musculus (Mouse) | SS |
| Q9QWY8 | Asap1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Mus musculus (Mouse) | SS |
| Q7SIG6 | Asap2 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 | Mus musculus (Mouse) | SS |
| Q1AAU6 | Asap1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Rattus norvegicus (Rat) | SS |
| Q9C6C3 | AGD2 | ADP-ribosylation factor GTPase-activating protein AGD2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SMX5 | AGD4 | ADP-ribosylation factor GTPase-activating protein AGD4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPDQISVSEF | VAETHEDYKA | PTASSFTTRT | AQCRNTVAAI | EEALDVDRMV | LYKMKKSVKA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| INSSGLAHVE | NEEQYTQALE | KFGGNCVCRD | DPDLGSAFLK | FSVFTKELTA | LFKNLIQNMN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NIISFPLDSL | LKGDLKGVKG | DLKKPFDKAW | KDYETKITKI | EKEKKEHAKL | HGMIRTEISG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AEIAEEMEKE | RRFFQLQMCE | YLLKVNEIKI | KKGVDLLQNL | IKYFHAQCNF | FQDGLKAVES |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LKPSIETLST | DLHTIKQAQD | EERRQLIQLR | DILKSALQVE | QKEDSQIRQS | TAYSLHQPQG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NKEHGTERNG | SLYKKSDGIR | KVWQKRKCSV | KNGFLTISHG | TANRPPAKLN | LLTCQVKTNP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EEKKCFDLIS | HDRTYHFQAE | DEQECQIWMS | VLQNSKEEAL | NNAFKGDDNT | GENNIVQELT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KEIISEVQRM | TGNDVCCDCG | APDPTWLSTN | LGILTCIECS | GIHRELGVHY | SRMQSLTLDV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LGTSELLLAK | NIGNAGFNEI | MECCLPAEDS | VKPNPGSDMN | ARKDYITAKY | IERRYARKKH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ADNAAKLHSL | CEAVKTRDIF | GLLQAYADGV | DLTEKIPLAN | GHEPDETALH | LAVRSVDRTS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LHIVDFLVQN | SGNLDKQTGK | GSTALHYCCL | TDNAECLKLL | LRGKASIEIA | NESGETPLDI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AKRLKHEHCE | ELLTQALSGR | FNSHVHVEYE | WRLLHEDLDE | SDDDMDEKLQ | PSPNRREDRP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ISFYQLGSNQ | LQSNAVSLAR | DAANLAKEKQ | RAFMPSILQN | ETYGALLSGS | PPPAQPAAPS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TTSAPPLPPR | NVGKVQTASS | ANTLWKTNSV | SVDGGSRQRS | SSDPPAVHPP | LPPLRVTSTN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| PLTPTPPPPV | AKTPSVMEAL | SQPSKPAPPG | ISQIRPPPLP | PQPPSRLPQK | KPAPGADKST |
| 910 | 920 | 930 | 940 | 950 | 960 |
| PLTNKGQPRG | PVDLSATEAL | GPLSNAMVLQ | PPAPMPRKSQ | ATKLKPKRVK | ALYNCVADNP |
| 970 | 980 | 990 | 1000 | ||
| DELTFSEGDV | IIVDGEEDQE | WWIGHIDGDP | GRKGAFPVSF | VHFIAD |