O00222
PR
Gene name |
GRM8 (GPRC1H, MGLUR8) |
Protein name |
Metabotropic glutamate receptor 8 |
Names |
mGluR8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2918 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for O00222
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6BSZ | X-ray | 265 A | A/B | 37-514 | PDB |
| 6BT5 | X-ray | 292 A | A/B | 37-514 | PDB |
| 6E5V | X-ray | 295 A | A/B | 2-508 | PDB |
| AF-O00222-F1 | Predicted | AlphaFoldDB |
780 variants for O00222
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM3784972 RCV000149006 COSM1157877 CA174098 rs139289550 |
852 | R>C | Malignant tumor of prostate pancreas prostate Variant assessed as Somatic; 4.625e-05 impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4466288 rs775768370 |
2 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4466287 rs140993974 |
4 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4466286 rs530852816 |
7 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs146527148 CA369428690 |
7 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146527148 CA4466285 |
7 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs777461700 CA4466282 |
9 | A>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000948790 rs769194 CA4466281 VAR_014446 |
10 | S>C | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs371705134 CA4466280 |
12 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371705134 CA369428660 |
12 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4466279 rs778635438 |
14 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs754550662 CA369428620 |
18 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4466278 rs754550662 |
18 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4466276 rs757802889 |
19 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA4466275 rs757802889 |
19 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757802889 CA369428618 |
19 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs142716104 CA4466273 |
20 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000948789 VAR_014447 rs769202 CA4466272 |
21 | F>C | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs752651021 CA4466271 |
22 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
rs1305115149 CA369428585 |
23 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 25 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765525188 CA4466270 |
25 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4466269 rs374316613 |
27 | M>V | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1286185122 CA369428554 |
28 | M>K | No |
ClinGen TOPMed |
|
|
CA4466268 rs776615160 |
29 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4466267 rs770814840 |
30 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM281567 rs760758747 CA4466266 |
30 | R>I | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4466265 rs139046504 RCV000884688 |
32 | H>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 32 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 33 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1029380909 CA166551087 |
34 | Q>L | No |
ClinGen Ensembl |
|
|
rs771842143 CA4466264 |
36 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs747727857 CA4466263 |
37 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs778240330 CA4466262 COSM376209 |
38 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4466261 rs559451048 |
39 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369428472 rs1442886410 |
40 | I>R | No |
ClinGen TOPMed |
|
|
CA4466259 rs781604600 |
41 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4466260 COSM351512 rs201160740 |
41 | R>W | lung Variant assessed as Somatic; 9.241e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs757606392 CA4466258 |
42 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 45 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936302699 CA166551077 |
46 | I>N | No |
ClinGen Ensembl |
|
|
rs1381076721 CA369428410 |
50 | G>A | No |
ClinGen TOPMed |
|
|
CA166551073 rs149971619 |
51 | L>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4466256 rs778347268 |
53 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1299222741 CA369428382 |
55 | H>Y | No |
ClinGen gnomAD |
|
|
CA4466253 rs765205820 |
56 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4466254 rs540378963 |
56 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369428359 rs1370406388 |
58 | G>V | No |
ClinGen gnomAD |
|
|
CA4466250 rs756932867 |
61 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4466249 rs760554536 |
62 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369428338 rs760554536 |
62 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369428328 rs1563604571 |
63 | P>L | No |
ClinGen Ensembl |
|
|
rs1483752603 CA369428313 |
66 | E>K | No |
ClinGen gnomAD |
|
|
CA369428280 rs1563604565 |
70 | E>G | No |
ClinGen Ensembl |
|
|
CA4466245 rs773953085 |
74 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1254871601 CA369428238 |
76 | L>P | No |
ClinGen TOPMed |
|
|
rs748998297 CA4466243 |
79 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335495969 CA369428212 |
80 | L>F | No |
ClinGen gnomAD |
|
|
CA166551054 rs888925975 |
81 | Y>H | No |
ClinGen TOPMed |
|
|
rs1270726969 CA369428196 |
82 | A>E | No |
ClinGen TOPMed |
|
|
rs775136047 CA4466242 |
83 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769369804 CA4466241 |
84 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs139264204 CA4466239 |
86 | I>F | No |
ClinGen ESP ExAC |
|
|
CA369428152 rs1302695973 |
89 | D>N | No |
ClinGen gnomAD |
|
|
CA4466238 rs748569648 |
90 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA166551044 rs199857118 |
90 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199857118 CA4466236 |
90 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4466237 rs748569648 |
90 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs751281178 CA4466234 |
93 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362940548 CA369428116 |
95 | N>D | No |
ClinGen gnomAD |
|
|
rs1182828521 CA369428113 |
95 | N>S | No |
ClinGen gnomAD |
|
|
CA369428107 rs1377139571 |
96 | I>F | No |
ClinGen TOPMed |
|
|
rs557753346 CA4466233 |
97 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1266676979 CA369428096 |
98 | L>V | No |
ClinGen gnomAD |
|
|
CA369428090 rs1587363010 |
99 | G>C | No |
ClinGen Ensembl |
|
|
rs756358664 CA4466232 |
101 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs750295333 CA4466231 |
101 | R>H | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA166551037 rs756358664 |
101 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 102 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147289844 CA4466229 |
104 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA369428052 rs1328611139 |
105 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 108 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs954034986 CA166551025 |
108 | R>K | No |
ClinGen TOPMed |
|
|
CA369428035 rs954034986 |
108 | R>T | No |
ClinGen TOPMed |
|
|
rs368485855 CA166551023 |
109 | D>G | No |
ClinGen Ensembl |
|
|
rs1283177760 CA369428031 |
109 | D>N | No |
ClinGen gnomAD |
|
|
rs1437306857 CA369428019 |
110 | T>I | No |
ClinGen gnomAD |
|
|
CA369428014 rs1332861271 |
111 | Y>C | No |
ClinGen gnomAD |
|
|
rs1316501840 CA369428006 |
112 | A>G | No |
ClinGen gnomAD |
|
|
CA4466225 rs774939934 |
115 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA4466224 rs769457476 |
117 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM94430 CA4466222 rs142013291 |
118 | T>I | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed |
|
COSM744692 rs200075100 CA4466220 |
120 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs200075100 CA4466219 |
120 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 121 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4466218 rs755505804 |
122 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749405269 CA4466217 |
124 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190600603 CA369427918 |
126 | K>R | No |
ClinGen gnomAD |
|
|
COSM744694 CA4466215 rs200579683 |
128 | A>P | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
COSM123497 CA4466216 rs200579683 |
128 | A>S | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs143468706 COSM222142 CA4466214 |
129 | S>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4466212 rs757017205 |
130 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263091347 CA369427887 |
131 | V>M | No |
ClinGen gnomAD |
|
|
CA369427867 rs1232034465 |
134 | A>T | No |
ClinGen gnomAD |
|
|
CA369427854 rs1402891563 |
135 | N>K | No |
ClinGen TOPMed |
|
|
CA4466211 rs751302482 |
136 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458974157 CA369427848 |
137 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs965666208 CA166551004 |
137 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762826038 CA4466209 |
140 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1366247374 CA369427817 |
141 | F>L | No |
ClinGen gnomAD |
|
|
CA4466208 rs752251482 |
142 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4466207 rs764692647 |
142 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4466206 rs759249803 |
144 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA369427801 rs1292790625 |
144 | P>R | No |
ClinGen TOPMed |
|
|
CA4466204 rs376254689 COSM1085091 |
145 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371903212 CA4466202 |
149 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3394510 rs780348891 COSM96321 CA4466199 |
150 | V>I | lung liver pancreas Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 151 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443165042 CA369427757 |
151 | I>T | No |
ClinGen gnomAD |
|
|
rs948875580 CA166550986 |
151 | I>V | No |
ClinGen gnomAD |
|
|
COSM3411559 CA4466198 COSM3411558 rs769982247 |
152 | G>R | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs560575149 CA4466197 |
154 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369427738 rs1265117017 |
155 | A>T | No |
ClinGen TOPMed |
|
|
rs61737178 CA4466195 |
158 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368474810 CA4466193 |
160 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4466192 rs758371021 |
161 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243970110 CA369427701 |
161 | M>V | No |
ClinGen gnomAD |
|
|
CA369427691 rs1283445464 |
162 | V>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 164 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752623431 CA4466191 |
165 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4466190 rs776219293 |
167 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA369427610 rs1193307778 |
171 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1309388791 CA369427605 |
172 | P>S | No |
ClinGen gnomAD |
|
|
CA166524730 rs763416330 |
176 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4466166 rs767221195 |
176 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4466164 rs775957882 |
177 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA369427566 rs1159093444 |
178 | S>P | No |
ClinGen gnomAD |
|
|
CA369427552 rs1197416406 |
180 | A>D | No |
ClinGen gnomAD |
|
|
CA369427554 rs1254593753 |
180 | A>T | No |
ClinGen gnomAD |
|
|
rs760063701 CA4466162 |
181 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 182 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 183 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776614215 CA4466161 |
186 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs747249205 CA4466159 |
187 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs773432214 CA4466158 |
187 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1329820048 CA369427491 |
189 | Y>* | No |
ClinGen gnomAD |
|
|
CA369427479 rs1290112676 |
191 | F>V | No |
ClinGen gnomAD |
|
|
CA369427461 rs1402582927 |
193 | S>C | No |
ClinGen gnomAD |
|
|
CA4466157 rs772213436 |
194 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4466156 rs373754104 |
195 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369427449 rs1343061248 |
196 | V>L | No |
ClinGen gnomAD |
|
|
CA4466154 rs201540505 |
197 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1414902376 CA369427437 |
198 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 201 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA166524728 rs995067862 |
202 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs755663515 CA4466151 |
203 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4466150 rs749886418 |
203 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4466149 rs767311111 |
205 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4466148 rs756922791 COSM120914 |
206 | M>I | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM94429 rs961905313 CA166524727 |
206 | M>V | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA4466147 rs753159498 |
207 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4466146 rs765602970 |
208 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA369427368 rs777179701 |
209 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA4466144 rs777179701 |
209 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs140878658 CA4466141 |
210 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369427351 rs1485529918 |
212 | A>T | No |
ClinGen TOPMed |
|
|
rs866285632 CA166524725 |
215 | W>* | No |
ClinGen Ensembl |
|
|
CA4466138 rs772324014 COSM1085079 |
219 | S>L | ovary Variant assessed as Somatic; 0.0 impact. large_intestine endometrium skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1016695975 CA166524724 |
219 | S>P | No |
ClinGen Ensembl |
|
|
rs1436310562 CA369427299 |
220 | T>A | No |
ClinGen gnomAD |
|
|
CA166524723 rs953756219 |
223 | S>T | No |
ClinGen gnomAD |
|
|
CA4466136 rs748978609 |
224 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA369427260 rs1360244668 |
226 | N>S | No |
ClinGen gnomAD |
|
|
CA4466135 rs200219854 |
227 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1426787166 CA369427245 |
228 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4466134 rs769580062 |
229 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA4466133 rs146491203 |
230 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779109567 CA166524721 |
231 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs779109567 CA166524722 |
231 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779109567 CA369427229 |
231 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA369427223 rs1482924903 |
232 | V>E | No |
ClinGen gnomAD |
|
|
CA4466130 rs751252404 |
232 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA369427208 rs1211682931 |
234 | A>G | No |
ClinGen gnomAD |
|
|
CA369427211 rs1453729718 |
234 | A>T | No |
ClinGen TOPMed |
|
|
CA4466129 rs779203356 |
236 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4466126 rs755371409 |
239 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4466127 rs755371409 |
239 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4466124 rs750545586 |
241 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1427882205 CA369427127 |
244 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 245 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369427101 rs1433922421 |
248 | A>T | No |
ClinGen gnomAD |
|
|
rs1226926918 CA369427095 |
249 | Q>E | No |
ClinGen TOPMed |
|
|
rs758421393 CA4466063 |
249 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA369427073 rs1463324262 |
252 | K>E | No |
ClinGen gnomAD |
|
|
CA4466062 rs201597242 |
252 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755198369 CA4466060 |
254 | P>R | No |
ClinGen ExAC TOPMed |
|
|
rs753732184 CA4466059 |
255 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4466057 rs78266043 |
255 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78266043 CA4466058 |
255 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377649502 CA166478505 |
256 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA4466056 rs773040217 |
257 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369427037 rs1488318944 |
258 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs761264012 CA4466054 |
259 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs534491598 CA166478504 |
259 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA166478501 rs1023167394 |
262 | F>V | No |
ClinGen TOPMed |
|
|
CA4466053 rs773802177 |
263 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA369427006 rs1329758448 |
263 | E>A | No |
ClinGen gnomAD |
|
|
RCV000905521 CA4466052 rs17150343 VAR_049278 |
265 | I>T | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1308601439 CA369426974 |
267 | K>N | No |
ClinGen gnomAD |
|
|
CA369426976 rs1172091696 |
267 | K>R | No |
ClinGen TOPMed |
|
|
rs199601760 CA4466051 |
268 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4466050 rs777049516 |
268 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA369426968 rs1586398998 |
269 | L>M | No |
ClinGen Ensembl |
|
| TCGA novel | 270 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1321638311 CA369426941 |
273 | P>H | No |
ClinGen TOPMed |
|
|
CA369426923 rs1474711262 |
276 | R>* | No |
ClinGen Ensembl |
|
|
CA166478495 rs1053423782 |
276 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs747338774 CA4466048 |
277 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1458284567 CA369426915 |
278 | V>M | No |
ClinGen gnomAD |
|
|
CA4466046 rs772590380 |
280 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs755288376 CA4466043 |
283 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779110191 CA4466044 |
283 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1233274840 CA369426874 |
284 | E>K | No |
ClinGen TOPMed |
|
|
CA4466042 rs139848455 |
285 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1428835050 CA369426818 |
290 | I>L | No |
ClinGen gnomAD |
|
|
CA369426804 rs1263767317 |
292 | E>K | No |
ClinGen gnomAD |
|
|
rs147449603 CA4466025 |
293 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA166478434 rs147449603 |
293 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369426761 rs1586397104 |
298 | N>S | No |
ClinGen Ensembl |
|
|
CA4466023 rs144737599 |
299 | Q>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4466022 rs140773079 |
300 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4466021 rs140773079 |
300 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000974216 CA4466019 rs144338548 |
302 | H>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs751487766 CA4466018 |
306 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369426704 rs1483076315 |
306 | I>S | No |
ClinGen TOPMed |
|
|
CA4466017 rs763960686 |
308 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369426687 rs1396012456 |
309 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 309 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369426689 rs1311238877 |
309 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380491176 CA369426642 |
315 | I>T | No |
ClinGen gnomAD |
|
|
rs752210150 CA4466015 |
318 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 319 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs970082569 CA166478424 |
319 | Y>C | No |
ClinGen TOPMed |
|
|
CA4466014 rs541785688 |
320 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773486344 CA4466012 |
321 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1388864142 COSM421608 CA369426600 |
322 | E>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 323 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447085850 CA369426593 |
323 | E>K | No |
ClinGen TOPMed |
|
|
rs762212883 CA369426583 |
324 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs762212883 CA4466010 |
324 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4466011 rs574800240 |
324 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369426568 rs1423211639 |
326 | E>D | No |
ClinGen gnomAD |
|
|
CA369426574 rs1162403147 |
326 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA369426538 rs1428011473 |
331 | I>T | No |
ClinGen gnomAD |
|
|
rs1465267223 CA369426541 |
331 | I>V | No |
ClinGen TOPMed |
|
|
COSM3942003 COSM3942002 rs1189511879 CA369426529 |
332 | L>F | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4466008 rs769248920 |
334 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs374944457 CA4466006 |
335 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs553146140 CA4466005 |
335 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746100759 CA4466004 |
336 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1264096693 CA369426502 |
337 | S>L | No |
ClinGen gnomAD |
|
|
CA4466001 rs150900018 |
338 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4466002 rs150900018 |
338 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138348490 CA4466003 |
338 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369426492 rs1226654409 |
339 | D>V | No |
ClinGen gnomAD |
|
|
CA4465986 COSM261202 rs554849639 |
343 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs13309334 CA369426455 |
343 | R>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1085063 VAR_054752 rs13309334 CA4465985 |
343 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
CA369426447 rs1394890187 |
344 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 346 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369413691 CA4465984 |
347 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777517253 CA4465983 |
348 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758371200 COSM1699320 CA4465982 |
348 | R>Q | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 349 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748110836 CA4465981 |
350 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs890637586 CA166478093 |
351 | A>T | No |
ClinGen TOPMed |
|
|
CA369426403 rs1454841122 |
352 | N>D | No |
ClinGen gnomAD |
|
|
CA4465979 rs199524891 |
354 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369426387 COSM3411553 COSM3411554 rs1197672899 |
354 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1333225130 CA369426376 |
356 | N>D | No |
ClinGen gnomAD |
|
|
CA166478088 rs574271839 |
357 | V>A | No |
ClinGen Ensembl |
|
|
rs753249649 CA4465978 |
357 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260566395 CA369426359 |
358 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 358 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766153076 CA4465977 |
359 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4465976 rs755807231 |
360 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 361 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78124913 CA369426332 |
362 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 362 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_054477 rs78124913 CA4465975 |
362 | F>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4465973 rs763431483 |
363 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs764552738 CA4465974 |
363 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 365 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4465972 rs753264505 |
367 | F>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4465971 rs78947184 |
368 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA166478081 VAR_054478 rs78947184 |
368 | G>D | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1429660460 CA369426291 |
368 | G>S | No |
ClinGen TOPMed |
|
|
rs759689900 CA4465970 |
369 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs776640209 CA4465969 |
370 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771187494 CA4465968 |
372 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA369426237 rs1174130464 |
376 | K>R | No |
ClinGen TOPMed |
|
|
CA369426233 rs1346944451 |
377 | R>G | No |
ClinGen TOPMed |
|
|
CA369426231 rs1454348314 |
377 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA369426227 rs1325801158 |
377 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4465965 rs771839574 |
379 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369426208 rs1406935765 |
380 | H>R | No |
ClinGen TOPMed |
|
|
COSM461689 rs553795874 CA4465963 |
381 | I>V | cervix [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1396501394 CA369426170 |
385 | T>I | No |
ClinGen gnomAD |
|
|
rs1460628139 CA369425555 |
386 | G>E | No |
ClinGen TOPMed |
|
|
CA166460336 rs138538736 |
389 | R>* | No |
ClinGen ESP gnomAD |
|
|
CA369425537 rs769445141 |
389 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769445141 CA4465940 |
389 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA369425536 rs745315525 |
390 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA369425531 rs1354232697 |
390 | I>M | No |
ClinGen gnomAD |
|
|
rs745315525 CA4465939 |
390 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4465938 COSM1662084 rs781020940 |
391 | A>S | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
VAR_014448 CA4465935 rs2234947 |
392 | R>Q | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs753150351 CA4465936 |
392 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369425507 rs1364645383 |
395 | S>P | No |
ClinGen TOPMed |
|
|
CA4465933 rs754329027 |
397 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA369425471 rs1354751327 |
400 | G>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756188611 CA4465931 |
401 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369425460 rs1281948271 |
401 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs750455996 CA4465930 |
401 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 403 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369425445 rs1348161015 |
404 | F>I | No |
ClinGen TOPMed |
|
|
CA166460335 rs865903063 |
405 | V>L | No |
ClinGen gnomAD |
|
|
rs766611058 CA166460334 |
406 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA369425431 rs1476241218 |
406 | I>V | No |
ClinGen gnomAD |
|
|
rs767830991 CA4465929 |
407 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs369707677 CA166460333 |
409 | V>A | No |
ClinGen TOPMed |
|
|
rs369707677 CA369425409 |
409 | V>G | No |
ClinGen TOPMed |
|
|
CA4465926 rs763788105 |
410 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA369425401 rs544016597 |
411 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs544016597 CA4465925 |
411 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369425391 rs1214191670 |
412 | M>I | No |
ClinGen gnomAD |
|
|
CA4465924 rs761055139 |
412 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369425382 rs1205685844 |
414 | Y>D | No |
ClinGen TOPMed |
|
|
rs1285992860 CA369425374 |
415 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA369425356 rs1339787107 |
417 | H>Q | No |
ClinGen gnomAD |
|
|
CA4465921 rs775979475 |
418 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs770653104 CA4465920 |
419 | M>V | No |
ClinGen ExAC TOPMed |
|
|
CA369425336 rs1280861770 |
420 | H>P | No |
ClinGen gnomAD |
|
|
CA166460332 rs996737811 |
421 | K>E | No |
ClinGen TOPMed |
|
|
rs893290634 CA166460331 |
424 | C>S | No |
ClinGen TOPMed |
|
|
CA4465919 COSM325455 rs376815449 |
425 | P>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 426 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463511542 CA369425283 |
428 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1463511542 CA369425282 COSM1548403 |
428 | I>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs371369598 CA4465918 |
428 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs75863532 CA4465916 VAR_054479 |
430 | L>F | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1382209207 CA369425258 |
432 | P>S | No |
ClinGen gnomAD |
|
|
rs773834675 CA166460329 |
433 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs780568800 CA4465915 COSM2768183 COSM3411552 |
433 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4465913 rs750543385 CA4465914 |
434 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs137911873 CA4465912 |
435 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369425242 rs1297148746 |
435 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs757561226 CA4465911 |
437 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs937573816 CA166460328 |
438 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4465910 rs751747017 |
438 | D>V | No |
ClinGen ExAC |
|
|
CA369425202 rs1233174556 |
441 | E>A | No |
ClinGen TOPMed |
|
|
rs762874913 CA4465908 |
441 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1285939473 CA369425197 |
442 | L>V | No |
ClinGen gnomAD |
|
|
CA369425191 rs1217168666 |
443 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 443 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200994358 CA4465906 |
444 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 445 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4465905 rs759511687 |
445 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1443545990 CA369425171 |
446 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA369425165 rs1288727816 |
447 | R>Q | No |
ClinGen gnomAD |
|
|
rs776267363 CA4465904 |
447 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368195877 CA4465903 |
448 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368195877 CA369425160 |
448 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369425148 rs1174011588 |
450 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 452 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369425127 rs1253450470 |
453 | G>C | No |
ClinGen TOPMed |
|
|
rs1179511122 CA369425873 |
453 | G>V | No |
ClinGen TOPMed |
|
|
CA4465873 COSM1085055 rs777966522 |
454 | S>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs777966522 CA369425869 |
454 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 456 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4465872 rs758755548 |
456 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA369425849 rs1375188409 |
457 | T>I | No |
ClinGen gnomAD |
|
|
rs779218361 CA4465870 |
459 | V>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 461 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369425822 rs1460891464 |
462 | N>D | No |
ClinGen gnomAD |
|
|
CA4465869 rs536782289 |
462 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369425812 rs1450917236 |
463 | E>G | No |
ClinGen gnomAD |
|
|
COSM3411549 rs760631675 CA4465866 COSM3411550 |
465 | G>R | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs749969852 CA4465865 |
466 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA369425785 rs1469354095 |
467 | A>G | No |
ClinGen gnomAD |
|
|
CA4465864 rs569638270 |
467 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 467 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369425781 rs1255376883 |
468 | P>S | No |
ClinGen gnomAD |
|
|
CA4465862 rs774000074 |
470 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM2768167 COSM3781256 CA4465861 rs148874550 |
470 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA369425768 rs148874550 |
470 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1241503170 CA369425757 |
472 | D>Y | No |
ClinGen gnomAD |
|
|
rs759843582 CA4465860 |
473 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4465858 rs777034787 |
475 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 476 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369425721 rs1371651940 |
477 | Q>* | No |
ClinGen gnomAD |
|
|
CA166412714 rs563715742 |
478 | I>T | No |
ClinGen gnomAD |
|
|
rs771378184 CA4465857 |
479 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA369425704 rs1383679460 |
479 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA369425699 rs1158608414 COSM145468 |
480 | N>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1283380504 CA369425691 |
481 | K>R | No |
ClinGen TOPMed |
|
|
CA369425686 rs1354218152 |
482 | S>G | No |
ClinGen TOPMed |
|
|
rs747544381 CA4465855 |
482 | S>N | No |
ClinGen ExAC |
|
|
rs772288519 CA4465853 |
488 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397461316 COSM1673510 CA369425638 |
489 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 490 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369425628 rs1191602452 |
490 | H>R | No |
ClinGen gnomAD |
|
|
rs1262559855 CA369425617 |
491 | W>* | No |
ClinGen gnomAD |
|
|
rs779308371 CA4465851 |
491 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1206967504 CA369425611 |
492 | T>I | No |
ClinGen gnomAD |
|
|
CA166412713 rs963204476 |
493 | N>S | No |
ClinGen gnomAD |
|
|
rs1233335322 CA369425601 |
494 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 495 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4465850 rs375723493 |
496 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1202596459 CA369425586 |
496 | H>R | No |
ClinGen TOPMed |
|
|
rs180886173 CA4465849 |
498 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1584973100 CA369425067 |
499 | V>G | No |
ClinGen Ensembl |
|
|
rs1436972552 CA369425063 |
500 | E>A | No |
ClinGen gnomAD |
|
|
CA166403053 rs867124178 |
500 | E>K | No |
ClinGen Ensembl |
|
|
CA166403048 rs981849529 |
502 | M>I | No |
ClinGen Ensembl |
|
|
CA4465822 rs752404092 |
504 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4465821 rs764726782 |
506 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369425013 rs1380903424 |
507 | R>G | No |
ClinGen gnomAD |
|
|
CA369424995 rs1211496476 |
509 | H>P | No |
ClinGen gnomAD |
|
|
rs761151905 CA4465820 |
510 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 510 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA166403041 rs773663530 |
511 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4465819 rs773663530 |
511 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000947066 CA4465818 rs61753365 |
512 | P>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4465817 rs553191027 |
512 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4465815 rs534857859 |
513 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs112220743 RCV000900761 CA4465814 |
513 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA369424970 rs1158161030 |
514 | S>P | No |
ClinGen gnomAD |
|
|
rs769863833 CA4465812 |
515 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA166403029 rs996585769 |
517 | S>R | No |
ClinGen gnomAD |
|
|
CA4465809 rs61751057 |
519 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369424937 rs61751057 |
519 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 519 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA166403023 rs568673004 |
521 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1281501023 CA369424911 |
523 | G>E | No |
ClinGen gnomAD |
|
|
rs777509537 CA4465807 |
525 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200083656 CA4465806 |
526 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3411546 CA4465805 COSM2155261 rs537365104 |
528 | T>M | Variant assessed as Somatic; 0.0001848 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 528 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369424864 rs1370916824 |
530 | K>R | No |
ClinGen gnomAD |
|
|
CA369424854 rs1562931043 |
532 | V>I | No |
ClinGen Ensembl |
|
|
rs1296614211 CA369424839 |
534 | C>Y | No |
ClinGen TOPMed |
|
|
CA369424830 rs1343559287 |
535 | C>S | No |
ClinGen gnomAD |
|
|
rs767981940 CA4465801 |
536 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA4465800 rs762212749 |
537 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752111838 CA4465799 |
539 | E>* | No |
ClinGen ExAC |
|
|
CA4465798 rs569817460 |
540 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4465797 rs775413219 |
540 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4465796 rs775413219 |
540 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201469961 CA4465795 |
543 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1191751648 CA369424763 |
545 | N>D | No |
ClinGen gnomAD |
|
|
CA4465794 rs372801626 |
545 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776464911 CA4465793 |
547 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA369424745 rs1214447426 |
547 | Q>L | No |
ClinGen gnomAD |
|
|
CA369424738 rs2234948 |
548 | V>A | No |
ClinGen gnomAD |
|
|
VAR_014449 rs2234948 CA166402996 |
548 | V>G | No |
ClinGen UniProt dbSNP gnomAD |
|
| TCGA novel | 548 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746737542 CA4465791 |
549 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1347546109 CA369424719 |
551 | L>P | No |
ClinGen gnomAD |
|
|
rs143992685 CA4465790 RCV000902194 |
555 | L>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs747740385 CA4465788 |
559 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA166402992 rs867308034 |
559 | D>N | No |
ClinGen Ensembl |
|
|
rs1362693523 CA369424652 |
561 | R>S | No |
ClinGen gnomAD |
|
|
CA166402988 rs1041591662 |
562 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 562 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170649014 CA369424644 |
563 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs754743487 CA4465786 |
563 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779786127 CA4465784 |
564 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs142940229 CA4465785 |
564 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369424625 rs1434896515 |
565 | N>K | No |
ClinGen gnomAD |
|
|
CA166402981 rs1009139343 |
565 | N>T | No |
ClinGen TOPMed |
|
|
CA166402979 rs537993632 |
566 | R>C | No |
ClinGen gnomAD |
|
|
rs148553836 COSM452264 CA4465782 |
566 | R>H | Variant assessed as Somatic; 0.0001387 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs148553836 CA4465783 |
566 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1477841286 CA369424616 |
567 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1477841286 CA369424617 |
567 | T>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 568 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 568 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1050502191 CA166402972 |
572 | I>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 574 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 574 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281571242 CA369424561 |
576 | K>Q | No |
ClinGen gnomAD |
|
|
rs752892635 CA4465779 |
576 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369424541 rs759550118 |
578 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs146710399 CA4465778 |
578 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs952486655 CA166402966 |
579 | W>G | No |
ClinGen TOPMed |
|
|
rs1215271060 CA369424536 |
579 | W>L | No |
ClinGen gnomAD |
|
|
CA369424539 rs952486655 |
579 | W>R | No |
ClinGen TOPMed |
|
|
CA369424527 rs1342393953 |
580 | H>L | No |
ClinGen gnomAD |
|
|
rs776841029 CA4465776 |
582 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414469394 CA369424511 |
583 | W>G | No |
ClinGen gnomAD |
|
|
rs376619014 CA4465775 |
585 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4465773 rs772858943 |
587 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369424480 rs1302628187 |
588 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 589 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4465772 rs772087624 |
589 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA369424447 rs1217749341 |
593 | L>S | No |
ClinGen TOPMed |
|
|
rs142264224 CA4465771 |
594 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1456329519 CA369424427 |
596 | I>T | No |
ClinGen gnomAD |
|
|
CA369424430 rs1185150024 |
596 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4465768 COSM269282 rs140162343 |
597 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4465767 rs777774234 |
599 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758232515 CA166402956 |
600 | F>V | No |
ClinGen Ensembl |
|
|
CA4465766 rs755809435 |
601 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs966759053 CA369424389 |
603 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA166402951 rs966759053 |
603 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs868712292 CA166402949 |
604 | T>A | No |
ClinGen Ensembl |
|
|
rs1160298164 CA369424380 |
604 | T>I | No |
ClinGen TOPMed |
|
|
CA4465763 rs746671652 |
605 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4465762 rs753153909 |
607 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375382975 CA4465761 |
607 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1370974198 CA369424358 |
608 | Y>C | No |
ClinGen gnomAD |
|
|
CA4465760 rs372436094 |
609 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369424344 rs1325120261 |
610 | D>A | No |
ClinGen TOPMed |
|
|
CA369424337 rs1447505980 |
611 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 612 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369424321 rs766635867 |
613 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA369424326 rs1188309966 |
613 | I>V | No |
ClinGen Ensembl |
|
|
CA4465757 COSM1447789 rs760774902 |
614 | V>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
CA166402936 rs867021276 |
617 | S>L | No |
ClinGen Ensembl |
|
|
CA4465755 rs767201811 |
619 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs916732580 CA166402932 |
619 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs761602723 CA4465754 |
621 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs774461111 CA4465753 |
622 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 623 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4465752 rs768668054 |
623 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs368344634 CA369424260 |
624 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368344634 CA4465751 |
624 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA369424250 rs1357088247 |
625 | L>P | No |
ClinGen gnomAD |
|
|
CA4465748 rs142400397 |
627 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA166402925 rs867364484 |
628 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
COSM106355 CA166402923 rs141370711 |
629 | I>V | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 634 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331209577 CA369424188 |
635 | I>T | No |
ClinGen gnomAD |
|
|
CA369424180 rs1245423038 |
636 | T>M | No |
ClinGen TOPMed |
|
|
CA4465745 rs748503062 |
638 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1390888073 CA369424158 CA369424160 |
639 | M>I | Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4465744 rs779411604 |
639 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs372283879 CA4465743 |
640 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369424134 rs1362801612 COSM1447785 |
643 | P>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 645 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753956680 CA4465742 |
645 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 646 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138004157 CA4465741 |
647 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 648 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM141888 CA166402915 rs267601269 |
649 | S>F | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA369424085 rs1174066145 |
651 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs750614819 CA4465740 |
651 | R>L | No |
ClinGen ExAC gnomAD |
|
|
COSM203268 rs750614819 COSM3698018 CA4465739 |
651 | R>Q | large_intestine skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM3784973 rs182088200 CA4465737 COSM3784974 |
652 | R>Q | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA |
|
CA4465738 rs150319673 |
652 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA166402910 rs939798849 |
654 | F>C | No |
ClinGen Ensembl |
|
|
rs1485670684 CA369424067 |
655 | L>I | No |
ClinGen gnomAD |
|
|
CA369424049 rs1217106629 |
658 | G>R | No |
ClinGen gnomAD |
|
|
rs754056180 CA4465734 |
659 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4465735 rs367623635 |
659 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369424027 rs1348008530 |
661 | F>V | No |
ClinGen TOPMed |
|
| TCGA novel | 662 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4465733 rs563784447 |
663 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 664 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 664 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369423987 rs1379960597 |
667 | L>M | No |
ClinGen gnomAD |
|
|
rs776175698 CA4465730 |
668 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379486144 CA369423977 |
669 | K>Q | No |
ClinGen gnomAD |
|
|
CA166402895 rs569316985 |
672 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4465729 rs770566859 |
672 | R>H | Variant assessed as Somatic; 0.0001388 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA166402890 rs77222071 |
674 | H>Q | No |
ClinGen Ensembl |
|
|
rs1232112194 CA369423942 |
674 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs748558723 CA4465728 |
675 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369423935 rs1173403441 |
675 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM77816 CA369423927 rs1478675069 |
676 | I>M | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4465726 rs769216474 |
679 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs780480970 CA4465724 |
680 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs191023309 CA166402883 |
680 | G>V | No |
ClinGen 1000Genomes |
|
|
COSM333059 rs780480970 CA4465725 |
680 | G>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1482269512 CA369423897 |
681 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 683 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4465722 rs750468280 |
687 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA166402874 rs766573620 |
690 | I>T | No |
ClinGen gnomAD |
|
|
CA166402872 rs911916328 |
693 | A>E | No |
ClinGen Ensembl |
|
|
rs1199609145 CA369423818 |
693 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1199609145 CA369423819 |
693 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1180140998 CA369423797 |
696 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 696 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 697 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369423785 rs1410671028 |
698 | I>T | No |
ClinGen TOPMed |
|
|
rs996289811 CA166402868 |
699 | T>I | No |
ClinGen TOPMed |
|
|
CA369423761 rs762782643 |
702 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs762782643 CA4465717 |
702 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA4465716 rs752682935 |
704 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs201999725 CA4465714 |
705 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA369423739 rs1353162494 |
706 | Q>* | No |
ClinGen gnomAD |
|
|
CA369423724 rs1314529778 |
708 | L>F | No |
ClinGen TOPMed |
|
|
CA4465712 rs776180975 |
710 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166614171 CA369423691 |
713 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1442533769 CA369423692 |
713 | W>R | No |
ClinGen gnomAD |
|
|
rs1166614171 CA369423690 |
713 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1461900418 CA369423680 |
714 | F>C | No |
ClinGen gnomAD |
|
|
rs1282106422 CA369423669 |
716 | V>L | No |
ClinGen TOPMed |
|
|
COSM390672 rs760314333 CA4465710 |
718 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4465711 rs770527898 |
718 | P>S | No |
ClinGen ExAC TOPMed |
|
|
rs1021001584 CA166402853 |
719 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4465706 rs77499554 |
720 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs772717214 | 720 | H>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562929293 CA369423646 |
720 | H>R | No |
ClinGen Ensembl |
|
|
CA4465707 rs77499554 |
720 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369423636 rs1281521139 |
721 | I>M | No |
ClinGen TOPMed |
|
|
rs1485577597 CA369423629 |
722 | I>M | No |
ClinGen TOPMed |
|
|
rs1351912738 CA369423624 |
723 | I>T | No |
ClinGen gnomAD |
|
|
rs1186617181 CA369423620 |
724 | D>N | No |
ClinGen gnomAD |
|
|
rs1562929239 CA369423616 |
724 | D>V | No |
ClinGen Ensembl |
|
|
CA369423609 COSM744719 rs1185685926 |
725 | Y>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA166402846 rs886406421 |
726 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs770313855 CA4465704 |
726 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199887587 CA4465701 |
729 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4465702 COSM123495 rs553468202 |
729 | R>W | upper_aerodigestive_tract haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA4465699 rs751847809 |
734 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs778079575 CA4465698 |
735 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA369423533 rs1331781834 |
737 | R>M | No |
ClinGen TOPMed |
|
|
rs752488695 CA4465696 |
739 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1459904825 CA369423513 |
741 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 742 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754911383 CA4465694 |
743 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1239057496 CA369423460 |
748 | S>L | No |
ClinGen gnomAD |
|
|
CA4465691 rs200798290 |
750 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 751 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 755 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369423359 rs1237114599 |
763 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4465689 rs142276801 |
765 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377749087 CA4465688 |
767 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA369423331 rs1447351317 |
767 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770272411 CA369423330 |
768 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770272411 CA4465686 |
768 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA166402816 rs1051433 VAR_054753 |
768 | I>N | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs770272411 CA4465687 |
768 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906775201 CA166402814 |
770 | T>A | No |
ClinGen gnomAD |
|
|
CA4465684 rs147639816 |
770 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs147639816 CA4465685 |
770 | T>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747049416 CA4465682 |
771 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM141889 rs868583345 CA166402806 |
773 | V>D | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 774 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 774 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 775 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4465681 rs375982962 |
775 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 777 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369423265 rs778763796 |
778 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747931727 COSM377980 CA4465679 |
778 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4465677 rs754927828 |
779 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1159011293 CA369423256 |
780 | A>T | No |
ClinGen gnomAD |
|
|
CA166402799 rs1003890710 |
780 | A>V | No |
ClinGen Ensembl |
|
|
CA4465676 rs753827569 |
782 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1409657076 CA369423237 |
783 | I>N | No |
ClinGen TOPMed |
|
|
rs886747132 CA166402796 |
783 | I>V | No |
ClinGen gnomAD |
|
|
CA4465673 rs749914052 |
786 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1385769267 CA369423213 |
787 | M>V | No |
ClinGen TOPMed |
|
|
CA369423186 rs1442544053 |
790 | T>I | No |
ClinGen TOPMed |
|
|
CA369423176 rs1327095927 |
792 | I>V | No |
ClinGen TOPMed |
|
|
rs767199883 CA4465672 |
793 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281652310 CA369423145 |
796 | A>D | No |
ClinGen gnomAD |
|
|
rs552363290 CA4465671 |
798 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 799 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369423126 rs1354932374 COSM327821 |
799 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1354932374 CA369423128 |
799 | P>T | No |
ClinGen gnomAD |
|
|
CA369423120 rs1232833331 |
800 | I>V | No |
ClinGen gnomAD |
|
|
CA4465670 rs775779184 |
801 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200861849 CA166402786 |
802 | F>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 803 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275531417 CA369423090 |
804 | T>I | No |
ClinGen gnomAD |
|
|
rs1584968215 CA369423089 |
805 | A>T | No |
ClinGen Ensembl |
|
|
CA369423079 rs1438616644 |
806 | Q>P | No |
ClinGen gnomAD |
|
|
COSM94422 CA166402784 rs931034170 |
808 | A>E | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1180506124 CA369423033 |
811 | M>L | No |
ClinGen gnomAD |
|
|
CA4465646 rs563418168 |
811 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369423018 rs761256362 |
813 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs761256362 CA4465644 |
813 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA166379519 rs894022033 |
815 | T>A | No |
ClinGen Ensembl |
|
|
CA4465643 rs145269034 |
815 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369423000 rs1486410607 |
816 | T>A | No |
ClinGen TOPMed |
|
|
rs772290644 CA4465642 |
818 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs368592810 CA166379518 |
819 | T>I | No |
ClinGen ESP TOPMed |
|
|
rs368592810 CA369422980 |
819 | T>N | No |
ClinGen ESP TOPMed |
|
|
rs375976374 CA4465640 |
820 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761731845 CA4465641 |
820 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 822 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369422968 rs1395647143 |
822 | M>V | No |
ClinGen gnomAD |
|
|
rs1378227870 CA369422959 |
823 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1188772402 CA369422943 |
825 | S>C | No |
ClinGen TOPMed |
|
|
CA369422923 rs1397956481 |
828 | V>A | No |
ClinGen gnomAD |
|
|
rs779822109 CA4465637 |
828 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA369422916 rs1465657185 |
829 | S>C | No |
ClinGen gnomAD |
|
|
rs1425351235 CA369422911 |
830 | L>P | No |
ClinGen gnomAD |
|
|
rs745820581 CA4465635 |
831 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA369422909 rs1162313699 |
831 | G>R | No |
ClinGen gnomAD |
|
|
CA4465632 rs371783697 |
832 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4465633 rs150015937 |
832 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369422896 rs1397128808 |
833 | L>F | No |
ClinGen TOPMed |
|
|
CA369422887 rs1238031851 |
834 | Y>C | No |
ClinGen gnomAD |
|
|
rs1048011860 CA166379516 |
835 | M>I | No |
ClinGen Ensembl |
|
|
CA4465629 rs754318321 |
835 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4465630 rs754318321 |
835 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931000415 CA166379515 |
836 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 837 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 837 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766834766 CA4465628 |
837 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA166379514 rs200358466 |
838 | V>F | No |
ClinGen 1000Genomes |
|
|
CA4465627 rs761061854 |
839 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA369422853 rs1244425504 |
840 | I>L | No |
ClinGen gnomAD |
|
|
CA4465626 rs750969134 |
841 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369422835 rs1313178876 |
842 | I>S | No |
ClinGen gnomAD |
|
|
CA4465622 rs768990237 |
847 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 848 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 848 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401892722 CA369422788 |
849 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1666266 CA4465620 rs769583623 |
852 | R>H | eye [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs745626103 CA4465619 |
853 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4465617 rs770756602 |
854 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs367718639 CA4465618 |
854 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777140087 CA4465615 |
858 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA369422724 rs1421263250 |
858 | A>S | No |
ClinGen gnomAD |
|
|
CA4465613 rs569148679 |
859 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs539871947 CA4465614 |
859 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369422699 rs1488933619 |
863 | A>T | No |
ClinGen gnomAD |
|
|
rs778639963 CA4465612 |
863 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA369422691 rs1375296188 |
864 | T>N | No |
ClinGen Ensembl |
|
|
rs879230597 CA166379512 |
865 | M>I | No |
ClinGen Ensembl |
|
|
CA4465611 rs756577412 |
865 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 866 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349674920 CA369422677 |
866 | Q>R | No |
ClinGen TOPMed |
|
|
rs750767434 CA369422667 CA4465610 |
867 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs768109309 CA4465609 |
871 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000925881 CA4465608 rs148482718 |
872 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 873 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370701034 CA4465607 |
873 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368223169 CA4465606 |
874 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369422620 rs1391041663 |
875 | D>N | No |
ClinGen gnomAD |
|
|
CA369422612 rs1294976139 |
876 | R>G | No |
ClinGen gnomAD |
|
|
CA166379511 rs868430299 |
876 | R>K | No |
ClinGen Ensembl |
|
|
CA369422594 rs1584629994 |
878 | N>K | No |
ClinGen Ensembl |
|
|
rs1417448277 CA369422597 |
878 | N>S | No |
ClinGen gnomAD |
|
|
rs1464792484 CA369422588 |
879 | G>D | No |
ClinGen TOPMed |
|
|
rs913988684 CA166379510 |
880 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA166379508 rs866291977 |
885 | L>F | No |
ClinGen Ensembl |
|
|
rs1198292954 CA369422540 |
886 | C>S | No |
ClinGen gnomAD |
|
|
rs1198292954 CA369422541 |
886 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1433799273 CA369422530 |
887 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA166379507 rs898433268 |
888 | S>C | No |
ClinGen TOPMed |
|
|
rs1269525775 CA369422517 |
889 | L>P | No |
ClinGen gnomAD |
|
|
rs989456315 CA166379506 |
890 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 892 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4465570 COSM141890 rs758867322 |
894 | S>F | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA369422363 rs1274848357 |
895 | S>C | No |
ClinGen TOPMed |
|
|
rs1274848357 CA369422365 |
895 | S>Y | No |
ClinGen TOPMed |
|
|
rs752845969 CA4465569 |
896 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369422354 rs1479432774 |
897 | K>T | No |
ClinGen Ensembl |
|
|
CA4465567 rs754996874 |
899 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 899 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158958695 CA369422336 |
900 | Y>C | No |
ClinGen TOPMed |
|
|
rs951214039 CA166378756 |
900 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 901 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_054754 rs10225567 CA166378755 |
902 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen UniProt Ensembl NCI-TCGA dbSNP |
|
CA4465565 rs766585834 |
903 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 904 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292744603 CA369422298 |
905 | N>S | No |
ClinGen gnomAD |
|
|
CA369422291 rs1563006257 |
906 | H>P | No |
ClinGen Ensembl |
|
|
CA369422283 rs1385658725 COSM1488199 |
907 | S>* | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1385658725 CA369422281 |
907 | S>L | No |
ClinGen gnomAD |
|
|
CA4465563 rs143754269 |
908 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with O00222
6 regional properties for O00222
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Receptor, ligand binding region | 74 - 477 | IPR001828 |
| domain | GPCR, family 3, nine cysteines domain | 512 - 562 | IPR011500 |
| domain | GPCR family 3, C-terminal | 577 - 857 | IPR017978 |
| conserved_site | GPCR, family 3, conserved site | 162 - 180 | IPR017979-1 |
| conserved_site | GPCR, family 3, conserved site | 534 - 556 | IPR017979-2 |
| conserved_site | GPCR, family 3, conserved site | 777 - 787 | IPR017979-3 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| adenylate cyclase inhibiting G protein-coupled glutamate receptor activity | Combining with glutamate and transmitting the signal across the membrane by activating the alpha-subunit of an associated heterotrimeric G-protein complex to inhibit downstream adenylate cyclase activity. |
| G protein-coupled receptor activity | Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| glutamate receptor activity | Combining with glutamate and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. |
| group III metabotropic glutamate receptor activity | A G protein-coupled receptor that is activated by L-AP-4 and inhibits adenylate cyclase activity. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway | An adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway initiated by glutamate binding to its receptor, and ending with the regulation of a downstream cellular process. |
| adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the inhibition of adenylyl cyclase activity and a subsequent decrease in the intracellular concentration of cyclic AMP (cAMP). |
| G protein-coupled glutamate receptor signaling pathway | A G protein-coupled receptor signaling pathway initiated by glutamate binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process. |
| regulation of synaptic transmission, glutamatergic | Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P41180 | CASR | Extracellular calcium-sensing receptor | Homo sapiens (Human) | PR |
| Q14416 | GRM2 | Metabotropic glutamate receptor 2 | Homo sapiens (Human) | PR |
| Q9QYS2 | Grm3 | Metabotropic glutamate receptor 3 | Mus musculus (Mouse) | PR |
| Q14BI2 | Grm2 | Metabotropic glutamate receptor 2 | Mus musculus (Mouse) | PR |
| Q3UVX5 | Grm5 | Metabotropic glutamate receptor 5 | Mus musculus (Mouse) | PR |
| P47743 | Grm8 | Metabotropic glutamate receptor 8 | Mus musculus (Mouse) | PR |
| P31422 | Grm3 | Metabotropic glutamate receptor 3 | Rattus norvegicus (Rat) | PR |
| P31421 | Grm2 | Metabotropic glutamate receptor 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVCEGKRSAS | CPCFFLLTAK | FYWILTMMQR | THSQEYAHSI | RVDGDIILGG | LFPVHAKGER |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GVPCGELKKE | KGIHRLEAML | YAIDQINKDP | DLLSNITLGV | RILDTCSRDT | YALEQSLTFV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QALIEKDASD | VKCANGDPPI | FTKPDKISGV | IGAAASSVSI | MVANILRLFK | IPQISYASTA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PELSDNTRYD | FFSRVVPPDS | YQAQAMVDIV | TALGWNYVST | LASEGNYGES | GVEAFTQISR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EIGGVCIAQS | QKIPREPRPG | EFEKIIKRLL | ETPNARAVIM | FANEDDIRRI | LEAAKKLNQS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GHFLWIGSDS | WGSKIAPVYQ | QEEIAEGAVT | ILPKRASIDG | FDRYFRSRTL | ANNRRNVWFA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EFWEENFGCK | LGSHGKRNSH | IKKCTGLERI | ARDSSYEQEG | KVQFVIDAVY | SMAYALHNMH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KDLCPGYIGL | CPRMSTIDGK | ELLGYIRAVN | FNGSAGTPVT | FNENGDAPGR | YDIFQYQITN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KSTEYKVIGH | WTNQLHLKVE | DMQWAHREHT | HPASVCSLPC | KPGERKKTVK | GVPCCWHCER |
| 550 | 560 | 570 | 580 | 590 | 600 |
| CEGYNYQVDE | LSCELCPLDQ | RPNMNRTGCQ | LIPIIKLEWH | SPWAVVPVFV | AILGIIATTF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VIVTFVRYND | TPIVRASGRE | LSYVLLTGIF | LCYSITFLMI | AAPDTIICSF | RRVFLGLGMC |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FSYAALLTKT | NRIHRIFEQG | KKSVTAPKFI | SPASQLVITF | SLISVQLLGV | FVWFVVDPPH |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IIIDYGEQRT | LDPEKARGVL | KCDISDLSLI | CSLGYSILLM | VTCTVYAIKT | RGVPETFNEA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KPIGFTMYTT | CIIWLAFIPI | FFGTAQSAEK | MYIQTTTLTV | SMSLSASVSL | GMLYMPKVYI |
| 850 | 860 | 870 | 880 | 890 | 900 |
| IIFHPEQNVQ | KRKRSFKAVV | TAATMQSKLI | QKGNDRPNGE | VKSELCESLE | TNTSSTKTTY |
| ISYSNHSI |