Q8TDY4
SS
Gene name |
ASAP3 (DDEFL1, UPLC1) |
Protein name |
Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 |
Names |
Development and differentiation-enhancing factor-like 1 , Protein up-regulated in liver cancer 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55616 |
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 |
304-391 (PH domain);426-546 (Arf GAP domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for Q8TDY4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2B0O | X-ray | 206 A | E/F/G/H | 416-697 | PDB |
| 3LVQ | X-ray | 338 A | E | 416-697 | PDB |
| 3LVR | X-ray | 338 A | E | 416-697 | PDB |
| AF-Q8TDY4-F1 | Predicted | AlphaFoldDB |
967 variants for Q8TDY4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs929106916 | 2 | P>A | No | gnomAD | |
| rs1392057705 | 2 | P>L | No |
TOPMed gnomAD |
|
| rs1392057705 | 2 | P>R | No |
TOPMed gnomAD |
|
| rs929106916 | 2 | P>S | No | gnomAD | |
| rs1642414497 | 4 | Q>K | No | gnomAD | |
| rs1014533591 | 5 | F>V | No | TOPMed | |
| rs2148671568 | 6 | S>N | No | 1000Genomes | |
| rs1455934163 | 8 | A>T | No |
TOPMed gnomAD |
|
| rs1222403992 | 10 | F>L | No | gnomAD | |
| rs1438624260 | 12 | A>T | No | gnomAD | |
| rs983085875 | 13 | V>F | No |
TOPMed gnomAD |
|
| rs1200670115 | 15 | A>T | No | gnomAD | |
| rs2148671519 | 15 | A>V | No | Ensembl | |
| rs1452158487 | 16 | E>K | No | gnomAD | |
| rs1642408739 | 17 | D>N | No | Ensembl | |
| rs1266548307 | 18 | L>F | No |
TOPMed gnomAD |
|
| rs1266548307 | 18 | L>I | No |
TOPMed gnomAD |
|
| rs1343111724 | 19 | S>G | No | gnomAD | |
| rs1209383711 | 20 | S>F | No | gnomAD | |
| rs1012385676 | 21 | P>L | No |
TOPMed gnomAD |
|
| rs1012385676 | 21 | P>R | No |
TOPMed gnomAD |
|
| rs764931577 | 22 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1570430490 | 23 | G>E | No | Ensembl | |
| rs1241152128 | 23 | G>W | No | gnomAD | |
| rs2148671461 | 24 | A>P | No | Ensembl | |
| rs1642407331 | 27 | F>L | No | Ensembl | |
| rs1642407209 | 27 | F>S | No | TOPMed | |
| rs1642406320 | 30 | K>N | No |
TOPMed gnomAD |
|
| rs1032534820 | 30 | K>R | No |
TOPMed gnomAD |
|
| rs1032534820 | 30 | K>T | No |
TOPMed gnomAD |
|
| rs527492071 | 31 | M>K | No |
1000Genomes TOPMed gnomAD |
|
| rs1332249550 | 31 | M>V | No |
TOPMed gnomAD |
|
| rs980433406 | 32 | P>L | No | Ensembl | |
| rs902802355 | 32 | P>S | No |
TOPMed gnomAD |
|
| rs902802355 | 32 | P>T | No |
TOPMed gnomAD |
|
| rs1642405303 | 33 | R>W | No | TOPMed | |
| rs1403576954 | 35 | R>G | No | gnomAD | |
|
TCGA novel rs1642404685 |
35 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2148671375 | 37 | A>S | No | Ensembl | |
| rs1642404260 | 38 | A>G | No | Ensembl | |
| rs1298232633 | 40 | A>V | No | gnomAD | |
| rs1042378982 | 43 | E>K | No |
TOPMed gnomAD |
|
| rs1399862351 | 43 | E>V | No | TOPMed | |
| TCGA novel | 44 | I>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1641379667 | 44 | I>F | No | Ensembl | |
| rs1343138857 | 44 | I>T | No | gnomAD | |
| rs1414621361 | 47 | G>R | No | gnomAD | |
| rs755067543 | 48 | D>N | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 51 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs980790231 | 51 | I>T | No |
TOPMed gnomAD |
|
| rs1558153725 | 54 | R>G | No |
TOPMed gnomAD |
|
| TCGA novel | 54 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1641378631 | 55 | I>T | No | Ensembl | |
| rs766886545 | 57 | K>T | No |
ExAC gnomAD |
|
| rs1194566647 | 58 | A>G | No |
TOPMed gnomAD |
|
| rs750796854 | 59 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs750796854 | 59 | V>M | No |
ExAC TOPMed gnomAD |
|
|
rs765453970 COSM4029988 COSM4906466 |
60 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1340527 rs370249845 COSM4784477 |
60 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1558153630 | 61 | A>V | No | Ensembl | |
| rs369898744 | 62 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1202143420 | 63 | H>R | No | gnomAD | |
| rs1003293425 | 64 | S>N | No | gnomAD | |
| rs763627912 | 65 | S>Y | No |
ExAC gnomAD |
|
| rs142619271 | 66 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs141249142 | 68 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs1479970825 | 71 | E>D | No |
TOPMed gnomAD |
|
| rs1221740339 | 74 | E>Q | No | gnomAD | |
| rs768995083 | 75 | Q>* | No |
ExAC gnomAD |
|
| rs747134598 | 77 | R>* | No |
ExAC gnomAD |
|
|
rs148331468 COSM906226 COSM4875637 |
77 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs771999248 | 79 | A>V | No |
ExAC gnomAD |
|
| rs201389143 | 80 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201389143 | 80 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs199778394 | 81 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs755800424 | 82 | S>C | No |
ExAC gnomAD |
|
| rs755800424 | 82 | S>Y | No |
ExAC gnomAD |
|
| rs985873101 | 84 | G>R | No |
TOPMed gnomAD |
|
| rs758935550 | 85 | N>K | No |
ExAC TOPMed gnomAD |
|
|
COSM906225 COSM4871035 |
86 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs372043920 | 86 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1417694845 | 87 | H>P | No |
TOPMed gnomAD |
|
| rs1417694845 | 87 | H>R | No |
TOPMed gnomAD |
|
| rs766403675 | 90 | Q>* | No |
ExAC gnomAD |
|
| rs1056622939 | 90 | Q>H | No | TOPMed | |
| rs762907646 | 91 | N>I | No |
ExAC gnomAD |
|
| rs764882440 | 91 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs762907646 | 91 | N>T | No |
ExAC gnomAD |
|
| rs775536140 | 93 | H>Q | No |
1000Genomes ExAC gnomAD |
|
| rs537036849 | 93 | H>R | No |
1000Genomes ExAC gnomAD |
|
| rs772237023 | 94 | E>G | No |
ExAC gnomAD |
|
| rs774900879 | 98 | G>A | No |
ExAC gnomAD |
|
|
COSM4906339 rs774900879 COSM4029987 |
98 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC gnomAD |
| rs749734430 | 100 | L>R | No |
ExAC gnomAD |
|
| rs1641367009 | 103 | A>V | No | Ensembl | |
|
TCGA novel rs1641366823 |
104 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs756392232 | 106 | T>I | No |
ExAC gnomAD |
|
| rs374686646 | 107 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs138253513 | 107 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs138253513 | 107 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1361297937 | 108 | E>D | No | gnomAD | |
| rs141822254 | 108 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs759839502 | 111 | A>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 112 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750338035 | 113 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1195302448 | 114 | K>R | No | gnomAD | |
| rs1641365413 | 116 | L>M | No | TOPMed | |
| rs1388417392 | 118 | Q>E | No | TOPMed | |
| rs1327158802 | 118 | Q>H | No | TOPMed | |
| rs763887626 | 119 | N>D | No |
ExAC gnomAD |
|
| rs201194561 | 120 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs751737672 | 121 | N>D | No |
ExAC gnomAD |
|
| rs1020860248 | 122 | N>S | No |
TOPMed gnomAD |
|
| rs766482714 | 125 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs765877713 | 125 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs766482714 | 125 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs1641260085 | 126 | F>L | No | TOPMed | |
| rs1429232807 | 127 | P>S | No |
TOPMed gnomAD |
|
| TCGA novel | 128 | L>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770196583 | 131 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1558147385 | 132 | M>I | No | Ensembl | |
| rs762313460 | 134 | G>E | No |
ExAC gnomAD |
|
| rs1641259281 | 134 | G>R | No | Ensembl | |
| rs1641259145 | 135 | Q>H | No | gnomAD | |
| rs1641259042 | 136 | L>P | No |
TOPMed gnomAD |
|
| rs1027917730 | 138 | D>G | No |
TOPMed gnomAD |
|
| rs1162544595 | 139 | G>A | No |
TOPMed gnomAD |
|
| rs553500353 | 139 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1162544595 | 139 | G>V | No |
TOPMed gnomAD |
|
| rs746691583 | 140 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs139815549 | 140 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs139815549 | 140 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1050711146 | 141 | Q>K | No |
TOPMed gnomAD |
|
| rs745461334 | 144 | K>R | No |
ExAC gnomAD |
|
| rs745461334 | 144 | K>T | No |
ExAC gnomAD |
|
| rs1364974639 | 147 | L>M | No |
TOPMed gnomAD |
|
| rs1402553813 | 150 | A>S | No |
TOPMed gnomAD |
|
| rs1402553813 | 150 | A>T | No |
TOPMed gnomAD |
|
| rs770430325 | 150 | A>V | No |
ExAC gnomAD |
|
| rs1641212950 | 151 | W>* | No | Ensembl | |
| rs976560864 | 151 | W>C | No | TOPMed | |
| rs541333954 | 153 | D>N | No | 1000Genomes | |
| rs755791108 | 154 | Y>C | No |
ExAC gnomAD |
|
| rs1372591412 | 155 | E>D | No |
TOPMed gnomAD |
|
| rs1167001974 | 156 | A>S | No |
TOPMed gnomAD |
|
| rs755959425 | 158 | M>R | No |
ExAC TOPMed gnomAD |
|
| rs755959425 | 158 | M>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 162 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM906160 COSM4873422 |
163 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs267598443 | 163 | K>R | No | Ensembl | |
|
COSM4868324 COSM906159 rs372166776 |
165 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA TOPMed gnomAD |
| rs368844883 | 165 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs372166776 | 165 | R>S | No |
ESP TOPMed gnomAD |
|
| rs201699410 | 166 | D>E | No | 1000Genomes | |
| rs769725912 | 166 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs748019349 | 166 | D>V | No |
ExAC gnomAD |
|
| rs769725912 | 166 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs149730721 | 167 | R>L | No |
ESP ExAC gnomAD |
|
| rs149730721 | 167 | R>Q | No |
ESP ExAC gnomAD |
|
| rs867093977 | 167 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1202172050 | 168 | A>V | No |
TOPMed gnomAD |
|
| rs2148618984 | 170 | V>G | No | Ensembl | |
| rs561907649 | 171 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs757341327 | 172 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1640911822 | 173 | G>R | No | TOPMed | |
| rs374835567 | 175 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs764205375 | 177 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs756706141 | 178 | V>A | No |
ExAC gnomAD |
|
| rs756706141 | 178 | V>G | No |
ExAC gnomAD |
|
| TCGA novel | 179 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1484349433 | 182 | M>T | No | gnomAD | |
| rs753210534 | 182 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs768029130 | 184 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs768029130 | 184 | R>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | E>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1272559168 | 186 | R>Q | No | TOPMed | |
| COSM5077892 | 186 | R>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM906158 rs759918483 COSM4872402 |
186 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs773929984 | 187 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1640909685 | 188 | I>M | No | TOPMed | |
| rs762445032 | 188 | I>T | No |
ExAC gnomAD |
|
| rs1204613089 | 189 | F>I | No | TOPMed | |
| rs772721348 | 189 | F>L | No |
ExAC gnomAD |
|
| rs769243302 | 190 | Q>* | No |
ExAC gnomAD |
|
| rs143888534 | 192 | H>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs571052424 | 193 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs776519575 | 193 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1425586324 | 195 | E>K | No |
TOPMed gnomAD |
|
| rs1425586324 | 195 | E>Q | No |
TOPMed gnomAD |
|
| rs1640900049 | 198 | L>I | No | Ensembl | |
| rs1358455138 | 199 | K>R | No | TOPMed | |
| rs765029335 | 200 | A>P | No |
ExAC gnomAD |
|
| rs765029335 | 200 | A>T | No |
ExAC gnomAD |
|
| rs148831305 | 201 | G>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs145225699 | 201 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs763993163 | 202 | E>D | No |
ExAC gnomAD |
|
| rs1384156799 | 202 | E>G | No |
TOPMed gnomAD |
|
| rs1288724257 | 203 | S>G | No | gnomAD | |
| rs1429045642 | 203 | S>N | No | gnomAD | |
| rs1408685045 | 203 | S>R | No | gnomAD | |
| rs1177797265 | 204 | Q>H | No | gnomAD | |
| rs1432489440 | 207 | Q>R | No |
TOPMed gnomAD |
|
| rs1469706785 | 208 | G>S | No | gnomAD | |
| rs184865364 | 210 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1171880370 | 211 | F>L | No | gnomAD | |
| rs774899692 | 211 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs771711611 | 212 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs759278844 | 212 | L>P | No |
ExAC gnomAD |
|
| rs1570350191 | 214 | S>R | No | Ensembl | |
| rs1262023511 | 216 | I>M | No |
TOPMed gnomAD |
|
| rs780236449 | 217 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs138247317 | 218 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1243455932 | 218 | F>S | No |
TOPMed gnomAD |
|
| rs149194749 | 218 | F>V | No |
ESP ExAC gnomAD |
|
| rs1321272065 | 220 | H>R | No | gnomAD | |
| rs902677114 | 220 | H>Y | No |
TOPMed gnomAD |
|
| rs1229700736 | 221 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1308364543 | 221 | A>V | No | gnomAD | |
| rs867873164 | 222 | Q>R | No |
TOPMed gnomAD |
|
| rs780020089 | 224 | N>H | No |
ExAC gnomAD |
|
| rs377564938 | 226 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1640880962 | 227 | Q>H | No | Ensembl | |
| rs1640881070 | 227 | Q>R | No | TOPMed | |
| rs772133678 | 229 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs779082114 | 230 | W>R | No |
ExAC gnomAD |
|
| rs1558128496 | 235 | S>R | No | Ensembl | |
| rs777448053 | 237 | F>I | No |
ExAC TOPMed gnomAD |
|
| rs957067693 | 238 | P>S | No | Ensembl | |
| rs1221949022 | 239 | F>Y | No | gnomAD | |
| rs200562976 | 241 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1240415847 | 242 | K>N | No |
TOPMed gnomAD |
|
| rs767623836 | 244 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs767623836 | 244 | A>G | No |
ExAC TOPMed gnomAD |
|
|
COSM4786344 COSM1340526 |
244 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767623836 | 244 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1640878967 | 245 | A>S | No | gnomAD | |
| rs1406232862 | 247 | V>A | No |
TOPMed gnomAD |
|
| rs1558128283 | 247 | V>I | No | Ensembl | |
| rs1174846779 | 248 | H>R | No |
TOPMed gnomAD |
|
| rs751156487 | 249 | A>G | No |
ExAC gnomAD |
|
| rs751066143 | 250 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs779724669 | 251 | H>R | No |
ExAC gnomAD |
|
| rs1558127821 | 252 | Q>* | No | Ensembl | |
|
COSM1245526 rs1640871077 |
253 | A>T | oesophagus [Cosmic] | No |
cosmic curated TOPMed |
| rs1470215991 | 254 | Q>P | No |
TOPMed gnomAD |
|
| rs758002450 | 255 | E>Q | No | ExAC | |
| rs185053013 | 257 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs1411072031 | 259 | Q>H | No |
TOPMed gnomAD |
|
| rs1308569732 | 259 | Q>R | No |
TOPMed gnomAD |
|
| rs753097677 | 265 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs151232489 | 265 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1640869564 | 268 | L>F | No | TOPMed | |
| rs1206148186 | 269 | R>* | No |
TOPMed gnomAD |
|
| rs1558127593 | 269 | R>Q | No | Ensembl | |
| rs878948424 | 270 | G>E | No | Ensembl | |
| rs1378558930 | 271 | T>A | No |
TOPMed gnomAD |
|
| rs1462141855 | 273 | Q>P | No | gnomAD | |
| rs1640868814 | 274 | L>P | No | TOPMed | |
| rs760054820 | 275 | E>A | No |
ExAC gnomAD |
|
| rs774353425 | 275 | E>D | No |
ExAC gnomAD |
|
| rs1262011798 | 275 | E>Q | No |
TOPMed gnomAD |
|
| rs1640868340 | 276 | S>G | No | Ensembl | |
| TCGA novel | 278 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 278 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1640861110 | 280 | H>Q | No | TOPMed | |
| rs762139381 | 280 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs776502496 | 282 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs764768097 | 283 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs543667188 | 283 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 284 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1640860444 | 286 | S>* | No | Ensembl | |
| rs778504713 | 287 | G>E | No |
ExAC gnomAD |
|
| rs766940864 | 287 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs375411165 | 288 | C>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs1244804357 | 289 | G>D | No | Ensembl | |
| rs12117542 | 290 | Y>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1233000259 | 290 | Y>C | No | gnomAD | |
| rs1481906513 | 292 | I>M | No |
TOPMed gnomAD |
|
| rs1293473654 | 293 | H>Q | No | gnomAD | |
| rs1405779262 | 293 | H>Y | No |
TOPMed gnomAD |
|
| rs2148616779 | 294 | Q>* | No | Ensembl | |
| rs1640858861 | 294 | Q>R | No | TOPMed | |
| rs755317799 | 295 | H>Y | No |
ExAC gnomAD |
|
| rs1358503365 | 296 | Q>R | No | gnomAD | |
| rs1640858518 | 297 | G>S | No | TOPMed | |
| rs1287410261 | 298 | N>H | No | gnomAD | |
| rs1225443331 | 298 | N>K | No | gnomAD | |
| rs1287410261 | 298 | N>Y | No | gnomAD | |
| TCGA novel | 299 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs996978623 | 299 | K>R | No | Ensembl | |
| rs1640858054 | 301 | F>C | No | gnomAD | |
| rs1640857922 | 302 | G>R | No | Ensembl | |
| rs147482690 | 303 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1640857534 | 305 | K>N | No |
TOPMed gnomAD |
|
| rs1004652228 | 306 | V>L | No | TOPMed | |
| rs1004652228 | 306 | V>M | No | TOPMed | |
| COSM1283525 | 307 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1640857200 | 307 | G>V | No |
TOPMed gnomAD |
|
| rs1348652867 | 308 | F>S | No | gnomAD | |
| rs1640856552 | 314 | D>G | No | Ensembl | |
| rs1640856344 | 315 | G>R | No | Ensembl | |
|
COSM4663599 COSM259520 rs760996705 |
317 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs760996705 | 317 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1240975876 | 317 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs17855027 | 319 | V>A | No | Ensembl | |
| rs2148613728 | 319 | V>F | No | Ensembl | |
| TCGA novel | 321 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752374798 | 321 | Q>H | No |
ExAC gnomAD |
|
| TCGA novel | 323 | R>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs865808556 | 323 | R>G | No | Ensembl | |
| rs1640780515 | 323 | R>K | No | TOPMed | |
| TCGA novel | 324 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1183713 rs1234048915 |
325 | C>R | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
| rs575123252 | 329 | Y>C | No | gnomAD | |
| rs74946314 | 331 | C>W | No |
ExAC gnomAD |
|
|
rs1216480001 COSM307999 |
331 | C>Y | biliary_tract [Cosmic] | No |
cosmic curated gnomAD |
|
COSM4948352 COSM1340524 |
333 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1320282388 | 333 | T>N | No | gnomAD | |
| rs1433578524 | 334 | I>L | No | gnomAD | |
| rs199508833 | 337 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1558122616 | 337 | S>N | No | Ensembl | |
| rs772733929 | 338 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1640766184 | 339 | I>V | No | Ensembl | |
| rs746201608 | 341 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs768232484 | 341 | R>W | No |
ExAC gnomAD |
|
| rs1640765765 | 342 | P>S | No | Ensembl | |
| rs767252554 | 343 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs767252554 | 343 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs1266348945 | 344 | V>E | No | gnomAD | |
| rs1570341625 | 345 | K>R | No | Ensembl | |
| rs1640765031 | 346 | L>V | No | Ensembl | |
| rs898562179 | 347 | T>A | No | TOPMed | |
| rs1244767462 | 347 | T>N | No |
TOPMed gnomAD |
|
| rs778486613 | 348 | L>P | No |
ExAC gnomAD |
|
| rs1409892131 | 350 | T>M | No |
TOPMed gnomAD |
|
|
COSM4815921 COSM1473652 |
352 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1640763921 | 352 | Q>R | No | Ensembl | |
| rs1640763806 | 353 | V>M | No | TOPMed | |
| rs1459798391 | 354 | R>G | No |
TOPMed gnomAD |
|
| rs1640763530 | 355 | P>L | No | Ensembl | |
| rs781440555 | 355 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs947451884 | 357 | P>L | No |
TOPMed gnomAD |
|
| rs1164705858 | 358 | E>G | No | TOPMed | |
| rs1640763236 | 359 | E>D | No | Ensembl | |
| rs1640763143 | 361 | K>N | No | Ensembl | |
| TCGA novel | 363 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1328713889 | 363 | F>L | No |
TOPMed gnomAD |
|
| rs747558021 | 364 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs747558021 | 364 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs199608986 | 368 | H>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs1558119506 | 369 | N>H | No | Ensembl | |
| rs1640719734 | 370 | R>G | No | TOPMed | |
|
rs267598442 COSM414557 |
370 | R>Q | skin urinary_tract [Cosmic] | No |
cosmic curated TOPMed |
|
COSM4782626 COSM3418939 |
370 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs781148535 | 371 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1640719516 | 371 | T>S | No | TOPMed | |
|
rs1640719150 COSM4787177 COSM1340523 |
372 | Y>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs1218745257 | 373 | H>L | No |
TOPMed gnomAD |
|
| rs1640718944 | 374 | F>C | No | gnomAD | |
| rs902056583 | 374 | F>L | No |
TOPMed gnomAD |
|
| rs747227838 | 375 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs747227838 | 375 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs1275928793 | 375 | Q>H | No |
TOPMed gnomAD |
|
|
TCGA novel rs747227838 |
375 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC TOPMed gnomAD |
| rs1456591683 | 376 | A>T | No | gnomAD | |
|
rs16828486 RCV000974828 VAR_048295 |
377 | E>A | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
TCGA novel rs374474860 |
378 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD NCI-TCGA |
| rs1157001530 | 378 | D>N | No | gnomAD | |
|
rs750257839 COSM1667255 |
379 | E>K | central_nervous_system [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1640716490 | 381 | E>D | No | Ensembl | |
| rs1450243874 | 381 | E>K | No | gnomAD | |
| rs1450243874 | 381 | E>Q | No | gnomAD | |
| rs1022608784 | 382 | C>R | No | TOPMed | |
| rs757164442 | 382 | C>Y | No | ExAC | |
| rs1640716139 | 383 | E>D | No | Ensembl | |
| rs1640716012 | 384 | A>E | No | Ensembl | |
| rs899616384 | 386 | V>A | No | TOPMed | |
| rs1362697688 | 389 | L>F | No |
TOPMed gnomAD |
|
| rs1640709621 | 389 | L>W | No | Ensembl | |
| rs1640709239 | 394 | D>G | No | TOPMed | |
| rs1448620878 | 395 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1341167760 | 396 | A>S | No | gnomAD | |
| rs1325835739 | 398 | S>G | No |
TOPMed gnomAD |
|
| rs762296900 | 398 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs776982932 | 399 | S>R | No |
ExAC gnomAD |
|
| rs200129246 | 400 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200129246 | 400 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200129246 | 400 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1640708078 | 401 | F>L | No | TOPMed | |
| rs1161048318 | 401 | F>L | No | gnomAD | |
| TCGA novel | 402 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1297800172 | 403 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1184132863 | 404 | E>A | No | gnomAD | |
| rs1346908048 | 404 | E>D | No | gnomAD | |
| rs775567666 | 404 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs772223774 | 405 | P>S | No |
ExAC gnomAD |
|
| rs2148610616 | 407 | A>G | No | Ensembl | |
| rs1179019500 | 407 | A>P | No | TOPMed | |
| rs1179019500 | 407 | A>T | No | TOPMed | |
| TCGA novel | 408 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1439257454 | 409 | P>A | No | gnomAD | |
|
COSM1172120 rs1570338178 |
409 | P>L | oesophagus [Cosmic] | No |
cosmic curated Ensembl |
| rs1570338178 | 409 | P>R | No | Ensembl | |
| rs1203916884 | 410 | G>A | No |
TOPMed gnomAD |
|
| rs1203916884 | 410 | G>E | No |
TOPMed gnomAD |
|
| rs1403997568 | 410 | G>R | No |
TOPMed gnomAD |
|
| rs770615390 | 412 | W>* | No |
ExAC TOPMed gnomAD |
|
| rs770615390 | 412 | W>C | No |
ExAC TOPMed gnomAD |
|
| rs1293612193 | 413 | G>E | No | gnomAD | |
| rs1640704886 | 414 | S>F | No | gnomAD | |
| rs1570338054 | 414 | S>P | No | Ensembl | |
| rs749154152 | 415 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs987899392 | 416 | G>S | No | Ensembl | |
| rs570022866 | 416 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs548083247 | 417 | H>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs752198805 | 418 | D>N | No |
ExAC gnomAD |
|
| rs1640704020 | 419 | G>E | No | gnomAD | |
| rs1640703913 | 420 | E>K | No |
TOPMed gnomAD |
|
| rs374050468 | 421 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
| rs1308897783 | 422 | H>Q | No |
TOPMed gnomAD |
|
| rs1640703208 | 423 | D>N | No | TOPMed | |
| rs1409385869 | 424 | L>F | No | gnomAD | |
|
COSM4029908 COSM4906777 |
425 | T>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1167304433 | 427 | L>P | No | gnomAD | |
| rs1017856685 | 427 | L>V | No |
TOPMed gnomAD |
|
| rs780857824 | 428 | L>F | No |
ExAC gnomAD |
|
| rs754606408 | 429 | I>L | No |
ExAC gnomAD |
|
| rs754606408 | 429 | I>V | No |
ExAC gnomAD |
|
| rs146159261 | 430 | A>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs146159261 | 430 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 432 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1390922769 | 432 | V>G | No | Ensembl | |
| rs766105033 | 432 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs766105033 | 432 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs370693470 | 433 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs58233188 | 436 | P>T | No | Ensembl | |
| rs1433166891 | 437 | G>E | No |
TOPMed gnomAD |
|
| rs1375059299 | 438 | N>T | No |
TOPMed gnomAD |
|
| rs1287648210 | 439 | S>N | No | gnomAD | |
| rs1159085013 | 440 | Q>R | No | TOPMed | |
| rs1421257813 | 441 | C>S | No | Ensembl | |
| rs1225353539 | 442 | C>* | No | gnomAD | |
| rs1640700227 | 442 | C>R | No | Ensembl | |
| rs775481841 | 443 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1289039830 | 444 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1289039830 | 444 | C>S | No |
TOPMed gnomAD |
|
| rs1640699512 | 445 | G>R | No | TOPMed | |
| rs1228054866 | 446 | A>T | No | gnomAD | |
| rs1640699159 | 446 | A>V | No | Ensembl | |
| rs1640699041 | 447 | A>V | No | Ensembl | |
| rs1432211584 | 448 | D>E | No | gnomAD | |
| TCGA novel | 448 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs535978345 | 449 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs535978345 | 449 | P>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1640691790 | 450 | T>M | No | gnomAD | |
| rs1247355325 | 451 | W>* | No | gnomAD | |
| rs1206672294 | 452 | L>F | No | gnomAD | |
| rs1211150923 | 453 | S>G | No |
TOPMed gnomAD |
|
| rs1640691008 | 453 | S>N | No | Ensembl | |
| rs1640690901 | 454 | T>P | No | TOPMed | |
| rs778264601 | 455 | N>S | No | Ensembl | |
|
COSM4812794 COSM3804489 |
458 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1278723620 | 458 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1231055850 | 459 | L>P | No | gnomAD | |
| rs1297550865 | 460 | T>FF* | No | gnomAD | |
| rs926573438 | 461 | C>G | No | gnomAD | |
| rs926573438 | 461 | C>R | No | gnomAD | |
| rs1640689769 | 462 | I>S | No | Ensembl | |
| rs547079352 | 463 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1640689359 | 465 | S>A | No | TOPMed | |
| rs759500482 | 465 | S>L | No |
ExAC gnomAD |
|
| rs1430175288 | 466 | G>D | No | gnomAD | |
| rs1195332557 | 466 | G>S | No | TOPMed | |
| rs773639283 | 467 | V>A | No |
ExAC gnomAD |
|
| rs773639283 | 467 | V>D | No |
ExAC gnomAD |
|
| rs768411529 | 467 | V>F | No |
ExAC gnomAD |
|
| rs768411529 | 467 | V>I | No |
ExAC gnomAD |
|
| rs769703053 | 469 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1182517714 | 469 | R>H | No | gnomAD | |
| rs1182517714 | 469 | R>P | No | gnomAD | |
| rs866071019 | 470 | E>K | No | gnomAD | |
| rs866071019 | 470 | E>Q | No | gnomAD | |
| rs1640686665 | 471 | L>R | No | gnomAD | |
| rs776680053 | 471 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1343345246 | 472 | G>C | No | gnomAD | |
| rs1274337752 | 472 | G>V | No | gnomAD | |
| rs2148609664 | 473 | V>G | No | Ensembl | |
| rs373421354 | 474 | R>C | No |
ESP ExAC gnomAD |
|
| rs1357736082 | 476 | S>L | No |
TOPMed gnomAD |
|
| rs1309509905 | 477 | R>C | No | gnomAD | |
| rs778593616 | 477 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs778593616 | 477 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs778593616 | 477 | R>P | No |
ExAC TOPMed gnomAD |
|
|
COSM679950 rs2148609597 |
478 | M>I | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs753097379 | 478 | M>L | No |
ExAC gnomAD |
|
| rs753097379 | 478 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs767969077 | 479 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1368974647 | 480 | S>L | No | gnomAD | |
| rs1640684635 | 480 | S>P | No | Ensembl | |
| rs1640684249 | 483 | L>S | No | TOPMed | |
| rs751529728 | 485 | L>P | No |
ExAC gnomAD |
|
| rs751529728 | 485 | L>Q | No |
ExAC gnomAD |
|
| rs1255427123 | 487 | G>C | No |
TOPMed gnomAD |
|
| rs766479444 | 487 | G>D | No |
ExAC gnomAD |
|
|
COSM4907029 COSM4029907 |
489 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1194418704 | 490 | E>D | No | gnomAD | |
| rs748937105 | 493 | L>Q | No |
ExAC gnomAD |
|
| rs777351413 | 494 | A>T | No |
ExAC gnomAD |
|
| rs148723559 | 495 | L>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs747377864 | 496 | N>S | No |
ExAC gnomAD |
|
| rs758852504 | 497 | M>V | No |
ExAC gnomAD |
|
|
COSM4905843 COSM4406187 |
499 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750474928 | 500 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs750474928 | 500 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs757477745 | 501 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs754099357 | 503 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1640665669 | 504 | E>K | No | Ensembl | |
| rs1640665475 | 506 | M>L | No | Ensembl | |
| rs764271686 | 506 | M>T | No |
ExAC gnomAD |
|
| rs1462897349 | 508 | A>S | No | gnomAD | |
| rs1558115674 | 508 | A>V | No | TOPMed | |
| rs1325983637 | 509 | Q>R | No |
TOPMed gnomAD |
|
| TCGA novel | 510 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1558115603 | 510 | L>R | No | Ensembl | |
| rs752462758 | 510 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs759480430 | 512 | S>T | No |
ExAC gnomAD |
|
|
rs934970877 COSM318791 |
513 | H>Q | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs774341386 | 515 | G>A | No |
ExAC gnomAD |
|
| rs1433253626 | 515 | G>S | No | gnomAD | |
| rs1223362377 | 516 | P>A | No | gnomAD | |
|
COSM110341 rs140530758 |
516 | P>L | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs140530758 | 516 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs201865670 | 517 | K>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1640662944 | 518 | P>R | No | Ensembl | |
| rs1446404100 | 518 | P>S | No |
TOPMed gnomAD |
|
| rs2148608642 | 520 | A>P | No | Ensembl | |
| rs772894513 | 522 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs769362757 | 523 | D>V | No |
ExAC gnomAD |
|
| rs1393152364 | 524 | M>I | No | gnomAD | |
| rs1208226628 | 524 | M>T | No | gnomAD | |
| rs202004624 | 525 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs202004624 | 525 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs371915285 | 527 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA gnomAD |
| rs1640640127 | 527 | R>H | No |
TOPMed gnomAD |
|
| rs1640640127 | 527 | R>L | No |
TOPMed gnomAD |
|
| rs1468439191 | 528 | R>K | No | gnomAD | |
| rs1176202439 | 528 | R>W | No | gnomAD | |
| rs771591906 | 529 | D>G | No |
ExAC gnomAD |
|
| rs1450958311 | 530 | Y>S | No | gnomAD | |
| rs749337388 | 533 | A>S | No |
ExAC gnomAD |
|
| rs749337388 | 533 | A>T | No |
ExAC gnomAD |
|
| rs756289914 | 535 | Y>* | No |
ExAC TOPMed gnomAD |
|
| rs1208575887 | 535 | Y>C | No |
TOPMed gnomAD |
|
| rs1260276184 | 535 | Y>H | No |
TOPMed gnomAD |
|
| rs1640638568 | 536 | V>M | No | TOPMed | |
| rs1223379693 | 538 | H>D | No | gnomAD | |
| rs1371689742 | 538 | H>R | No | gnomAD | |
| rs1223379693 | 538 | H>Y | No | gnomAD | |
| rs200891347 | 539 | R>S | No |
TOPMed gnomAD |
|
| TCGA novel | 540 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1211868023 | 541 | A>T | No |
TOPMed gnomAD |
|
| rs1640637874 | 541 | A>V | No | TOPMed | |
|
COSM4897974 COSM2048481 rs781443284 |
542 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs751387661 | 542 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs751387661 | 542 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs781443284 | 542 | R>S | No |
ExAC gnomAD |
|
| rs148195646 | 543 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs766259434 COSM4906991 COSM2048480 |
543 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs749884891 | 544 | C>G | No |
ExAC TOPMed gnomAD |
|
| rs2148607484 | 544 | C>Y | No | Ensembl | |
| rs997600722 | 545 | T>A | No |
TOPMed gnomAD |
|
| rs1252602653 | 545 | T>I | No |
TOPMed gnomAD |
|
| rs764651704 | 546 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs761441284 | 547 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1191541107 | 548 | P>L | No |
TOPMed gnomAD |
|
| rs753407192 | 550 | R>* | No |
ExAC gnomAD |
|
| rs763875974 | 550 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1640634875 | 553 | T>I | No | gnomAD | |
| rs759935282 | 553 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs774877977 | 554 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs144216953 | 555 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1315349029 | 555 | I>V | No | gnomAD | |
| rs867114979 | 557 | N>S | No | TOPMed | |
| rs1570332704 | 559 | D>A | No | TOPMed | |
| rs1570332704 | 559 | D>G | No | TOPMed | |
| rs773834302 | 560 | L>F | No |
ExAC gnomAD |
|
| rs769741844 | 562 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs1640633190 | 563 | V>L | No | TOPMed | |
| rs1428282217 | 564 | L>R | No | gnomAD | |
| rs1640632565 | 566 | A>D | No | Ensembl | |
| rs781353121 | 566 | A>T | No |
ExAC gnomAD |
|
|
rs1640632565 COSM1718098 |
566 | A>V | NS [Cosmic] | No |
cosmic curated Ensembl |
| rs1247642331 | 568 | A>T | No | gnomAD | |
| rs768889298 | 568 | A>V | No |
ExAC gnomAD |
|
|
COSM4924954 COSM4924955 |
569 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1392979876 | 573 | F>C | No |
TOPMed gnomAD |
|
| rs1570332590 | 573 | F>L | No | Ensembl | |
| rs746752156 | 573 | F>L | No |
ExAC gnomAD |
|
| rs1392979876 | 573 | F>S | No |
TOPMed gnomAD |
|
| rs1170461118 | 575 | Q>H | No |
TOPMed gnomAD |
|
| rs758282757 | 576 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs779832556 | 576 | P>S | No |
ExAC gnomAD |
|
| rs1383329095 | 577 | L>P | No | gnomAD | |
| rs889574490 | 579 | G>R | No | Ensembl | |
| rs1484902922 | 580 | P>R | No | gnomAD | |
| rs1640630780 | 580 | P>S | No | Ensembl | |
| rs778956024 | 583 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs754323088 | 584 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs146392307 | 585 | P>S | No |
ESP ExAC TOPMed |
|
| rs2148605134 | 589 | V>A | No | Ensembl | |
|
COSM5380189 COSM5380188 rs150324380 |
589 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1558110399 | 591 | H>R | No | Ensembl | |
|
COSM906134 COSM4870539 |
593 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774503253 | 594 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs774503253 | 594 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs188720319 | 595 | K>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs188720319 | 595 | K>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2148605099 | 596 | V>I | No | Ensembl | |
| rs769875873 | 597 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs747605318 | 597 | A>V | No |
ExAC gnomAD |
|
| rs780758516 | 598 | N>K | No |
ExAC gnomAD |
|
| rs1388517844 | 598 | N>S | No |
TOPMed gnomAD |
|
| rs147652133 | 599 | Q>* | No |
ESP TOPMed |
|
| rs1325059983 | 600 | A>P | No | gnomAD | |
| rs1325059983 | 600 | A>S | No | gnomAD | |
| rs754516055 | 601 | S>A | No |
ExAC gnomAD |
|
| rs746663718 | 602 | L>P | No |
ExAC gnomAD |
|
| rs146999625 | 603 | P>R | No |
ESP ExAC gnomAD |
|
| rs1381717326 | 603 | P>S | No | TOPMed | |
| TCGA novel | 604 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1180088185 | 605 | V>L | No | gnomAD | |
| rs754228983 | 611 | N>S | No |
ExAC gnomAD |
|
| rs201997487 | 612 | G>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs146395542 | 612 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs146395542 | 612 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1558109607 | 613 | G>D | No | Ensembl | |
| rs1270636026 | 613 | G>R | No | gnomAD | |
| rs1640556624 | 616 | D>N | No | TOPMed | |
| rs751614263 | 616 | D>V | No |
ExAC gnomAD |
|
| rs1416833360 | 617 | A>S | No | gnomAD | |
| VAR_035612 | 617 | A>T | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
| rs1640556161 | 618 | K>Q | No | Ensembl | |
| rs1001003079 | 619 | A>P | No |
TOPMed gnomAD |
|
| rs1001003079 | 619 | A>S | No |
TOPMed gnomAD |
|
| rs1001003079 | 619 | A>T | No |
TOPMed gnomAD |
|
| rs766652020 | 620 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs766652020 | 620 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs142199725 | 621 | D>V | No |
ESP ExAC |
|
| rs1422293595 | 622 | G>R | No |
TOPMed gnomAD |
|
| rs765114680 | 623 | N>K | No |
ExAC gnomAD |
|
| rs1168932160 | 623 | N>S | No | gnomAD | |
| rs1370816480 | 624 | T>M | No |
TOPMed gnomAD |
|
| TCGA novel | 625 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1256614078 | 627 | H>R | No | gnomAD | |
| rs1483547288 | 628 | Y>C | No |
TOPMed gnomAD |
|
| rs768510202 | 628 | Y>H | No |
ExAC gnomAD |
|
| rs774990747 | 629 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1021198071 | 629 | A>V | No | Ensembl | |
| rs1226914515 | 630 | A>G | No |
TOPMed gnomAD |
|
| rs1226914515 | 630 | A>V | No |
TOPMed gnomAD |
|
| rs771643051 | 631 | L>F | No |
ExAC gnomAD |
|
| rs745515586 | 632 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs745515586 | 632 | Y>S | No |
ExAC TOPMed gnomAD |
|
| rs1235446816 | 633 | N>S | No |
TOPMed gnomAD |
|
| rs1292843140 | 634 | Q>H | No | gnomAD | |
| rs778595220 | 634 | Q>K | No |
ExAC gnomAD |
|
| rs1640552706 | 635 | P>R | No | gnomAD | |
| rs748500137 | 636 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs113419927 | 636 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs113419927 | 636 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs1640551840 | 637 | C>F | No | Ensembl | |
| rs781690330 | 637 | C>R | No |
ExAC TOPMed gnomAD |
|
| rs1640551840 | 637 | C>S | No | Ensembl | |
| rs1166448755 | 642 | L>P | No | gnomAD | |
| rs1166448755 | 642 | L>R | No | gnomAD | |
| rs1640551201 | 643 | K>R | No | gnomAD | |
| TCGA novel | 646 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2148604365 | 647 | L>F | No | Ensembl | |
| rs1640550876 | 648 | V>A | No | Ensembl | |
| rs747044302 | 649 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs780277335 | 650 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1640550351 | 651 | V>L | No | gnomAD | |
| rs758525430 | 654 | A>G | No |
ExAC gnomAD |
|
| rs757431221 | 656 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1045499733 | 656 | E>K | No |
TOPMed gnomAD |
|
| rs377297346 | 658 | A>P | No |
ESP TOPMed gnomAD |
|
| rs144319319 | 661 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1640530621 | 662 | A>T | No | gnomAD | |
| rs763788327 | 662 | A>V | No |
ExAC gnomAD |
|
| rs1252335611 | 664 | K>Q | No | TOPMed | |
| rs1285148928 | 666 | H>Q | No |
TOPMed gnomAD |
|
| rs1318939999 | 666 | H>Y | No | gnomAD | |
| rs755994782 | 667 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs1640529554 | 668 | K>* | No | Ensembl | |
| rs1346427181 | 669 | E>G | No | Ensembl | |
| rs138556791 | 669 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs767480290 | 670 | C>Y | No |
ExAC gnomAD |
|
| rs1289784579 | 671 | E>K | No |
TOPMed gnomAD |
|
| rs1323304625 | 673 | L>M | No | gnomAD | |
| rs1640523580 | 675 | E>K | No | gnomAD | |
| rs1640523348 | 676 | Q>H | No | TOPMed | |
| rs751566920 | 676 | Q>P | No |
ExAC gnomAD |
|
| rs1640523246 | 677 | A>T | No | Ensembl | |
|
COSM327590 rs146824903 |
678 | Q>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs199856800 | 678 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs146824903 | 678 | Q>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs750016708 | 679 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs750016708 | 679 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1570325855 | 681 | T>A | No | Ensembl | |
| rs1207185210 | 681 | T>N | No |
TOPMed gnomAD |
|
| rs368585298 | 682 | F>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs772638477 | 683 | A>S | No |
ExAC gnomAD |
|
| TCGA novel | 684 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1293453218 | 685 | P>L | No | gnomAD | |
| rs760113301 | 685 | P>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 686 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1558107047 | 687 | H>P | No | gnomAD | |
| rs1413973552 | 687 | H>Q | No |
TOPMed gnomAD |
|
| rs774976959 | 688 | V>G | No |
ExAC TOPMed gnomAD |
|
| rs770891821 | 689 | D>H | No |
ExAC gnomAD |
|
| rs1462404837 | 690 | Y>C | No | gnomAD | |
| rs1640520899 | 691 | S>C | No | Ensembl | |
|
COSM3705666 rs777818177 |
692 | W>* | Variant assessed as Somatic; HIGH impact. liver [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1389681761 | 692 | W>L | No |
TOPMed gnomAD |
|
| rs202006565 | 693 | V>I | No |
ESP TOPMed gnomAD |
|
| rs747871777 | 698 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs779202932 | 698 | P>S | No | Ensembl | |
| rs1473752826 | 699 | G>C | No |
TOPMed gnomAD |
|
| rs1025151450 | 700 | S>F | No | TOPMed | |
| rs1640519887 | 701 | D>N | No | Ensembl | |
| rs754828129 | 704 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1475099269 | 705 | D>A | No | gnomAD | |
| rs751431631 | 705 | D>N | No |
ExAC gnomAD |
|
|
COSM4908107 COSM3984864 |
708 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780083743 | 709 | K>N | No |
ExAC gnomAD |
|
| rs147016526 | 710 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs538117231 | 710 | R>H | No |
1000Genomes ExAC gnomAD |
|
| rs147016526 | 710 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2148602538 | 711 | C>S | No | Ensembl | |
| rs775363873 | 711 | C>S | No |
ExAC gnomAD |
|
| rs572873506 | 711 | C>W | No | gnomAD | |
| rs1372288784 | 713 | L>R | No | Ensembl | |
|
COSM5948358 COSM5948357 |
714 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1447445605 | 714 | K>T | No | gnomAD | |
| rs867590061 | 715 | L>F | No | Ensembl | |
| rs745800960 | 716 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs745800960 | 716 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs140136454 | 717 | A>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1329364609 | 717 | A>T | No | gnomAD | |
| rs748837787 | 718 | Q>* | No |
ExAC gnomAD |
|
| TCGA novel | 718 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs987009902 | 719 | A>V | No | Ensembl | |
| rs934139379 | 720 | H>D | No | Ensembl | |
| rs1199115201 | 720 | H>P | No | TOPMed | |
| rs921563421 | 721 | W>* | No | Ensembl | |
| rs1360365726 | 721 | W>R | No | gnomAD | |
| rs777516793 | 723 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1025100874 | 723 | S>R | No |
TOPMed gnomAD |
|
|
rs1558105763 COSM3485691 COSM4904065 |
724 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs182680450 | 727 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1307055619 | 728 | I>F | No | TOPMed | |
| rs1640506653 | 728 | I>M | No | Ensembl | |
| rs766753572 | 729 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs766753572 | 729 | S>R | No |
ExAC TOPMed gnomAD |
|
| COSM1320338 | 730 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1640506199 | 730 | N>S | No | gnomAD | |
| rs1374272725 | 731 | K>E | No |
TOPMed gnomAD |
|
| rs1343837442 | 733 | Y>C | No |
TOPMed gnomAD |
|
| rs750900769 | 734 | E>K | No |
ExAC gnomAD |
|
|
COSM4819232 COSM4819233 |
734 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765765843 | 736 | V>I | No |
ExAC gnomAD |
|
| rs1640505012 | 737 | A>G | No | Ensembl | |
| rs776707855 | 737 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs760951474 | 739 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs369920126 | 742 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs375702551 | 742 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs748749801 | 744 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs748749801 | 744 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1640503905 | 744 | P>T | No | Ensembl | |
| rs777425342 | 745 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1334144738 | 745 | Q>H | No | gnomAD | |
| rs962892972 | 745 | Q>R | No |
TOPMed gnomAD |
|
| rs1413237225 | 746 | G>S | No |
TOPMed gnomAD |
|
| rs199574094 | 747 | E>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs199574094 | 747 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1640502708 | 748 | S>G | No | gnomAD | |
| rs1640502585 | 749 | E>* | No | TOPMed | |
| TCGA novel | 750 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM533471 COSM5255773 |
752 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1473082668 | 752 | P>T | No | TOPMed | |
| rs779337722 | 753 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1238161061 | 755 | L>F | No |
TOPMed gnomAD |
|
| rs754412905 | 757 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs750759674 | 758 | K>I | No |
ExAC gnomAD |
|
| rs750759674 | 758 | K>R | No |
ExAC gnomAD |
|
|
rs1640500565 COSM1737694 |
760 | S>F | central_nervous_system [Cosmic] | No |
cosmic curated TOPMed |
| rs200686258 | 761 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs144367386 | 761 | S>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs774299439 | 762 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs144247660 | 762 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs770925310 | 763 | T>N | No |
ExAC gnomAD |
|
| rs1390803033 | 764 | L>F | No | TOPMed | |
| rs1640499606 | 764 | L>S | No | Ensembl | |
| rs1008324836 | 764 | L>V | No | TOPMed | |
| rs2148602038 | 765 | V>I | No | Ensembl | |
| rs1446542381 | 766 | Q>P | No |
TOPMed gnomAD |
|
| rs1446542381 | 766 | Q>R | No |
TOPMed gnomAD |
|
| rs146778835 | 767 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1640498671 | 769 | A>V | No | Ensembl | |
| rs375020208 | 771 | H>Q | No |
ESP TOPMed |
|
| rs531491670 | 771 | H>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1397469444 | 771 | H>Y | No | gnomAD | |
| rs563984060 | 772 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1458473313 | 773 | S>G | No | TOPMed | |
| rs1640496905 | 774 | G>E | No | Ensembl | |
| rs1365961458 | 774 | G>R | No | Ensembl | |
| rs1174321740 | 775 | D>N | No | TOPMed | |
|
COSM1687202 rs768226542 |
776 | R>C | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs746655789 | 776 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs768226542 | 776 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs775168497 | 778 | E>K | No |
ExAC gnomAD |
|
| rs1439647361 | 780 | S>C | No | gnomAD | |
| rs1640449252 | 780 | S>P | No | gnomAD | |
| rs577277489 | 781 | S>R | No |
1000Genomes ExAC gnomAD |
|
| rs1558102482 | 783 | S>I | No | Ensembl | |
| TCGA novel | 785 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1219616113 | 786 | A>V | No |
TOPMed gnomAD |
|
| rs868775351 | 788 | E>G | No | Ensembl | |
| rs749681544 | 788 | E>K | No |
ExAC gnomAD |
|
| rs778291824 | 789 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs756590732 | 789 | T>N | No |
ExAC gnomAD |
|
| rs1352166617 | 790 | P>S | No | gnomAD | |
| rs1293342577 | 792 | S>I | No |
TOPMed gnomAD |
|
| rs1293342577 | 792 | S>N | No |
TOPMed gnomAD |
|
| rs1293342577 | 792 | S>T | No |
TOPMed gnomAD |
|
|
COSM3485690 COSM4891773 |
796 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1381586758 | 797 | A>G | No | TOPMed | |
| rs886162370 | 799 | S>F | No | Ensembl | |
| rs781127739 | 800 | S>C | No |
ExAC TOPMed gnomAD |
|
|
COSM1687201 rs781127739 |
800 | S>F | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs565640692 | 801 | S>N | No | Ensembl | |
| rs1272769597 | 801 | S>R | No | gnomAD | |
|
COSM3485689 COSM4897264 rs372626373 |
805 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1570321477 | 807 | E>D | No | Ensembl | |
| rs751800679 | 808 | P>S | No |
ExAC gnomAD |
|
| rs1640445409 | 812 | S>G | No |
TOPMed gnomAD |
|
| rs1640445409 | 812 | S>R | No |
TOPMed gnomAD |
|
| rs1174125425 | 813 | Q>* | No | gnomAD | |
| rs758220211 | 816 | P>R | No |
ExAC gnomAD |
|
| rs766739739 | 816 | P>S | No |
ExAC gnomAD |
|
| rs1640444788 | 817 | N>Y | No | TOPMed | |
| rs750200318 | 818 | S>P | No |
ExAC gnomAD |
|
| rs765157276 | 819 | E>G | No |
ExAC gnomAD |
|
| COSM3864872 | 820 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4897336 COSM3485688 |
822 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1570321358 | 822 | L>V | No | Ensembl | |
| rs761654342 | 823 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs761654342 | 823 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs199665281 | 823 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201264216 | 824 | E>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1487489433 | 825 | P>S | No | gnomAD | |
| rs1283114763 | 826 | P>L | No |
TOPMed gnomAD |
|
| rs760214231 | 827 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs760214231 | 827 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs760214231 | 827 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs1640442572 | 828 | T>A | No | gnomAD | |
| rs775080630 | 829 | S>P | No |
ExAC gnomAD |
|
| rs1025786923 | 831 | P>A | No | gnomAD | |
| rs749606321 | 831 | P>L | No |
ExAC gnomAD |
|
| rs749606321 | 831 | P>R | No |
ExAC gnomAD |
|
| rs994330797 | 832 | S>N | No |
TOPMed gnomAD |
|
| rs773451661 | 832 | S>R | No |
ExAC gnomAD |
|
| rs1357103046 | 834 | T>I | No | gnomAD | |
| rs1313447704 | 835 | S>A | No | gnomAD | |
| rs1640441031 | 835 | S>C | No | TOPMed | |
| rs896085148 | 836 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed gnomAD NCI-TCGA |
| rs896085148 | 836 | G>W | No |
TOPMed gnomAD |
|
| rs758996848 | 837 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs755069632 | 839 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs755069632 | 839 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1477075212 | 840 | S>A | No | gnomAD | |
|
COSM4869115 rs1260013457 COSM906123 |
840 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs780367200 | 841 | E>G | No |
ExAC gnomAD |
|
| rs905864851 | 842 | M>R | No |
TOPMed gnomAD |
|
| rs905864851 | 842 | M>T | No |
TOPMed gnomAD |
|
| rs758700381 | 842 | M>V | No |
ExAC gnomAD |
|
|
COSM4029886 COSM4907554 |
843 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs535583916 | 843 | Y>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs535583916 | 843 | Y>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1293663910 | 845 | P>H | No | gnomAD | |
| rs1293663910 | 845 | P>L | No | gnomAD | |
| rs1336756048 | 845 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs753354426 | 846 | V>F | No |
ExAC TOPMed gnomAD |
|
|
COSM4029885 rs753354426 COSM4907285 |
846 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
COSM4905841 COSM4403907 |
847 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1407664018 | 847 | R>S | No | gnomAD | |
|
COSM4899239 COSM3485687 |
848 | F>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1176257638 | 850 | S>F | No | gnomAD | |
| rs142945237 | 851 | E>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs142945237 | 851 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs998339956 | 852 | S>N | No |
TOPMed gnomAD |
|
| rs1570319736 | 853 | T>P | No | Ensembl | |
| rs554814285 | 854 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1288158151 | 854 | R>L | No |
TOPMed gnomAD |
|
| rs1173292268 | 855 | S>C | No |
TOPMed gnomAD |
|
| rs1640414932 | 855 | S>P | No | TOPMed | |
| rs777142418 | 856 | Y>C | No |
ExAC gnomAD |
|
| rs200734272 | 857 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs761253953 | 857 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs761253953 | 857 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs761253953 | 857 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs200734272 | 857 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs143495247 | 858 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs745986617 | 858 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs143495247 | 858 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1553171320 | 859 | G>R | No | Ensembl | |
| rs749012817 | 860 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs771194681 | 860 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 860 | A>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771194681 | 860 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs749012817 | 860 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs568988549 | 861 | R>Q | No |
1000Genomes ExAC gnomAD |
|
| rs536081650 | 861 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1360476972 | 862 | S>G | No | gnomAD | |
| rs781229291 | 862 | S>I | No |
ExAC TOPMed gnomAD |
|
| rs781229291 | 862 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1377675705 | 865 | D>G | No | gnomAD | |
| rs1640411755 | 866 | G>D | No | Ensembl | |
| rs1431089680 | 867 | P>L | No | gnomAD | |
| rs1197797419 | 867 | P>S | No | gnomAD | |
| rs765881891 | 868 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs758067842 | 869 | A>P | No |
ExAC gnomAD |
|
| rs1640410698 | 871 | Q>R | No | Ensembl | |
| rs1273738355 | 872 | P>S | No |
TOPMed gnomAD |
|
| rs1347294989 | 874 | P>S | No | gnomAD | |
| rs1442226882 | 875 | R>G | No | TOPMed | |
| rs532640961 | 877 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs764534286 | 877 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs764534286 | 877 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs776104795 | 878 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs137927599 | 879 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000885106 rs137927599 |
879 | P>Q | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1280286096 | 879 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1570316929 | 880 | V>A | No | TOPMed | |
| rs1416630959 | 880 | V>F | No |
TOPMed gnomAD |
|
| rs1570316929 | 880 | V>G | No | TOPMed | |
| rs200298634 | 882 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs531234229 | 883 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs763061579 | 885 | G>* | No |
ExAC gnomAD |
|
| rs1040517601 | 885 | G>E | No |
TOPMed gnomAD |
|
| rs763061579 | 885 | G>R | No |
ExAC gnomAD |
|
| rs1640363241 | 886 | D>H | No |
TOPMed gnomAD |
|
| rs1640363026 | 888 | S>* | No | TOPMed | |
| rs1640362915 | 890 | T>A | No | gnomAD | |
| rs771244024 | 891 | G>E | No |
TOPMed gnomAD |
|
| rs1218407697 | 892 | S>N | No |
TOPMed gnomAD |
|
| rs1212181115 | 894 | P>L | No | TOPMed | |
| rs773383278 | 894 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs770017518 | 895 | A>E | No |
ExAC gnomAD |
|
|
COSM906122 COSM4864503 |
897 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs747871319 | 898 | V>A | No |
ExAC gnomAD |
|
| rs1230408567 | 899 | Q>P | No | gnomAD | |
| rs142687246 | 900 | L>F | No |
ESP ExAC gnomAD |
|
| rs114806866 | 901 | L>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1640360268 | 902 | Q>R | No | Ensembl | |
| rs1277307525 | 903 | D>G | No | TOPMed | |
| rs148021104 | 904 | D>W | No |
ESP ExAC TOPMed gnomAD |
3 associated diseases with Q8TDY4
[MIM: 606764]: Gastrointestinal stromal tumor (GIST)
Common mesenchymal neoplasms arising in the gastrointestinal tract, most often in the stomach. They are histologically, immunohistochemically, and genetically different from typical leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed of a fairly uniform population of spindle-shaped cells. Some tumors are dominated by epithelioid cells or contain a mixture of spindle and epithelioid morphologies. Primary GISTs in the gastrointestinal tract commonly metastasize in the omentum and mesenteries, often as multiple nodules. However, primary tumors may also occur outside of the gastrointestinal tract, in other intra-abdominal locations, especially in the omentum and mesentery. {ECO:0000269|PubMed:12522257, ECO:0000269|PubMed:15928335}. Note=The gene represented in this entry may be involved in disease pathogenesis. Mutations causing PDGFRA constitutive activation have been found in gastrointestinal stromal tumors lacking KIT mutations (PubMed:12522257). {ECO:0000269|PubMed:12522257}.
[MIM: 175510]: GIST-plus syndrome (GISTPS)
A disorder characterized by multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor, inflammatory fibroid polyps, and fibroid tumors. Additional features are coarse facies and skin, broad hands and feet, and premature tooth loss. GISTPS is an autosomal dominant disease with incomplete penetrance. Gastrointestinal stromal tumor and inflammatory fibroid polyps may also occur in isolation. {ECO:0000269|PubMed:14699510, ECO:0000269|PubMed:17087943, ECO:0000269|PubMed:25975287}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Common mesenchymal neoplasms arising in the gastrointestinal tract, most often in the stomach. They are histologically, immunohistochemically, and genetically different from typical leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed of a fairly uniform population of spindle-shaped cells. Some tumors are dominated by epithelioid cells or contain a mixture of spindle and epithelioid morphologies. Primary GISTs in the gastrointestinal tract commonly metastasize in the omentum and mesenteries, often as multiple nodules. However, primary tumors may also occur outside of the gastrointestinal tract, in other intra-abdominal locations, especially in the omentum and mesentery. {ECO:0000269|PubMed:12522257, ECO:0000269|PubMed:15928335}. Note=The gene represented in this entry may be involved in disease pathogenesis. Mutations causing PDGFRA constitutive activation have been found in gastrointestinal stromal tumors lacking KIT mutations (PubMed:12522257). {ECO:0000269|PubMed:12522257}.
- A disorder characterized by multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor, inflammatory fibroid polyps, and fibroid tumors. Additional features are coarse facies and skin, broad hands and feet, and premature tooth loss. GISTPS is an autosomal dominant disease with incomplete penetrance. Gastrointestinal stromal tumor and inflammatory fibroid polyps may also occur in isolation. {ECO:0000269|PubMed:14699510, ECO:0000269|PubMed:17087943, ECO:0000269|PubMed:25975287}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q8TDY4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Vinculin, conserved site | 178 - 198 | IPR000633 |
5 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. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
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. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| regulation of stress fiber assembly | Any process that modulates the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
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 |
| O43150 | ASAP2 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 | 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 |
| Q7SIG6 | Asap2 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 | Mus musculus (Mouse) | SS |
| Q9QWY8 | Asap1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Mus musculus (Mouse) | SS |
| Q5U464 | Asap3 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 | 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 |
| MPEQFSVAEF | LAVTAEDLSS | PAGAAAFAAK | MPRYRGAALA | REEILEGDQA | ILQRIKKAVR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AIHSSGLGHV | ENEEQYREAV | ESLGNSHLSQ | NSHELSTGFL | NLAVFTREVA | ALFKNLIQNL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NNIVSFPLDS | LMKGQLRDGR | QDSKKQLEKA | WKDYEAKMAK | LEKERDRARV | TGGIPGEVAQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DMQRERRIFQ | LHMCEYLLKA | GESQMKQGPD | FLQSLIKFFH | AQHNFFQDGW | KAAQSLFPFI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EKLAASVHAL | HQAQEDELQK | LTQLRDSLRG | TLQLESREEH | LSRKNSGCGY | SIHQHQGNKQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FGTEKVGFLY | KKSDGIRRVW | QKRKCGVKYG | CLTISHSTIN | RPPVKLTLLT | CQVRPNPEEK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KCFDLVTHNR | TYHFQAEDEH | ECEAWVSVLQ | NSKDEALSSA | FLGEPSAGPG | SWGSAGHDGE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PHDLTKLLIA | EVKSRPGNSQ | CCDCGAADPT | WLSTNLGVLT | CIQCSGVHRE | LGVRFSRMQS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LTLDLLGPSE | LLLALNMGNT | SFNEVMEAQL | PSHGGPKPSA | ESDMGTRRDY | IMAKYVEHRF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ARRCTPEPQR | LWTAICNRDL | LSVLEAFANG | QDFGQPLPGP | DAQAPEELVL | HLAVKVANQA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SLPLVDFIIQ | NGGHLDAKAA | DGNTALHYAA | LYNQPDCLKL | LLKGRALVGT | VNEAGETALD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IARKKHHKEC | EELLEQAQAG | TFAFPLHVDY | SWVISTEPGS | DSEEDEEEKR | CLLKLPAQAH |
| 730 | 740 | 750 | 760 | 770 | 780 |
| WASGRLDISN | KTYETVASLG | AATPQGESED | CPPPLPVKNS | SRTLVQGCAR | HASGDRSEVS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SLSSEAPETP | ESLGSPASSS | SLMSPLEPGD | PSQAPPNSEE | GLREPPGTSR | PSLTSGTTPS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EMYLPVRFSS | ESTRSYRRGA | RSPEDGPSAR | QPLPRRNVPV | GITEGDGSRT | GSLPASSVQL |
| LQD |