Q86W26
PR
Gene name |
NLRP10 (NALP10, NOD8, PYNOD) |
Protein name |
NACHT, LRR and PYD domains-containing protein 10 |
Names |
Nucleotide-binding oligomerization domain protein 8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:338322 |
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
2 structures for Q86W26
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2M5V | NMR | - | A | 1-100 | PDB |
| AF-Q86W26-F1 | Predicted | AlphaFoldDB |
600 variants for Q86W26
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1181765192 CA379574596 |
2 | A>D | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 3 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759502711 CA5870309 |
4 | A>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5870310 rs759502711 |
4 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379574580 rs760937079 |
4 | A>S | No |
ExAC gnomAD ClinGen |
|
|
rs760937079 CA5870312 |
4 | A>T | No |
ExAC gnomAD ClinGen |
|
|
CA5870311 rs759502711 |
4 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs113573836 CA5870307 |
6 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5870306 rs748792341 |
9 | P>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5870304 rs113204543 |
10 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA5870303 rs113204543 |
10 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs535251598 CA5870305 |
10 | R>W | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA379574538 rs780593804 |
11 | E>D | No |
ExAC gnomAD ClinGen |
|
|
CA5870301 rs758782088 |
13 | L>F | No |
ExAC gnomAD ClinGen |
|
|
CA5870300 rs371934168 |
14 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA217426052 rs923917267 |
15 | W>R | No |
TOPMed gnomAD ClinGen |
|
|
CA379574465 rs1459246586 |
19 | D>E | No |
gnomAD ClinGen |
|
|
CA5870299 rs779601331 |
19 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA379574435 rs1270587323 |
22 | E>* | No |
TOPMed ClinGen |
|
| TCGA novel | 22 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5870297 rs753922051 |
22 | E>G | No |
ExAC gnomAD ClinGen |
|
|
rs1213916582 COSM136819 CA379574408 |
24 | D>N | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
TOPMed ClinGen cosmic curated NCI-TCGA |
|
rs1051203336 CA217426029 |
26 | K>E | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 27 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379574343 rs1488228037 |
31 | Y>C | No |
gnomAD ClinGen |
|
|
rs759378060 CA5870293 |
33 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759378060 CA5870292 |
33 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5870294 COSM1259201 rs146049194 |
33 | R>W | oesophagus [Cosmic] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs1466160746 CA379574327 |
34 | D>G | No |
gnomAD ClinGen |
|
|
rs201416860 CA217425957 |
34 | D>Y | No |
1000Genomes ClinGen |
|
|
rs992709039 CA217425954 |
35 | M>T | No |
TOPMed ClinGen |
|
| TCGA novel | 38 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379574289 rs1303016502 |
40 | G>S | No |
ClinGen gnomAD |
|
|
CA5870287 rs185419042 |
43 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5870286 rs185419042 |
43 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379573172 rs1300560912 |
43 | P>S | No |
gnomAD ClinGen |
|
|
CA5870284 rs768390527 |
44 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5870285 rs768390527 |
44 | L>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs973116024 CA379573155 |
44 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA379573137 rs1177112720 |
45 | A>D | No |
ClinGen gnomAD |
|
|
CA5870283 rs368469761 |
45 | A>P | No |
ESP ExAC gnomAD ClinGen |
|
| TCGA novel | 46 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379573130 rs1180382228 |
46 | R>K | No |
gnomAD ClinGen |
|
|
rs779406381 CA5870282 |
46 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA5870280 rs749736326 |
47 | G>E | No |
ExAC gnomAD ClinGen |
|
|
rs757716120 CA5870281 |
47 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA217425866 rs1015106713 |
50 | E>D | No |
TOPMed ClinGen |
|
|
CA379573063 rs1208005591 |
52 | L>V | No |
gnomAD ClinGen |
|
|
CA5870276 rs536334085 |
54 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536334085 CA5870277 |
54 | P>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA5870274 rs755191257 |
55 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA379573038 rs138343526 |
56 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751416547 CA5870273 |
56 | D>G | No |
ExAC gnomAD ClinGen |
|
|
rs762807124 CA5870271 |
58 | A>E | No |
ExAC gnomAD ClinGen |
|
|
CA5870270 rs773149105 |
59 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765060448 CA5870269 |
62 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 63 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379572985 rs1303740558 |
65 | Y>H | No |
gnomAD ClinGen |
|
|
CA5870266 rs547163303 |
69 | E>K | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA217425744 rs199475853 |
73 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000089597 CA230437 rs199475853 |
73 | V>I | No |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
rs771286628 CA5870264 |
74 | V>A | No |
ExAC gnomAD ClinGen |
|
|
CA217425736 rs927954251 |
74 | V>I | No |
ClinGen Ensembl |
|
|
CA5870263 rs527498709 |
75 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1389596606 CA379572910 |
76 | K>N | No |
gnomAD ClinGen |
|
|
CA217425710 rs900658112 |
77 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1182160165 CA379572886 |
80 | V>A | No |
ClinGen gnomAD |
|
|
rs1001050520 CA217425703 |
81 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs748295340 CA5870260 |
81 | M>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs982513974 CA217425693 |
82 | N>K | No |
Ensembl ClinGen |
|
|
rs1206830844 CA379572863 |
84 | L>M | No |
ClinGen gnomAD |
|
|
rs1357327439 CA379572850 |
85 | E>D | No |
TOPMed ClinGen |
|
|
CA379572857 rs1342311265 |
85 | E>K | No |
gnomAD ClinGen |
|
|
CA379572841 rs1273236528 |
87 | V>L | No |
TOPMed gnomAD ClinGen |
|
|
CA379572843 rs1273236528 |
87 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
CA379572828 rs779748427 |
89 | Q>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5870256 rs779748427 |
89 | Q>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs758258210 CA379572810 |
91 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs750150996 CA5870254 |
92 | H>D | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 92 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5870253 rs765282017 |
92 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 93 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379572799 rs1310766620 |
93 | I>N | No |
gnomAD ClinGen |
|
|
CA5870252 rs377268326 |
93 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA379572791 rs1370052097 |
94 | C>F | No |
TOPMed gnomAD ClinGen |
|
|
rs1312124523 CA379572787 |
95 | L>V | No |
gnomAD ClinGen |
|
|
CA5870251 rs753410241 |
96 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379572778 rs1460403910 |
96 | H>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA379572779 rs753410241 |
96 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 98 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 100 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 101 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467482256 CA379572534 |
101 | V>I | No |
gnomAD ClinGen |
|
|
CA5870229 rs773642195 |
102 | Y>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1270416196 CA379572518 |
102 | Y>H | No |
gnomAD ClinGen |
|
|
CA5870228 rs765522475 |
103 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA379572495 rs1278048406 COSM932458 |
103 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1233013274 CA379572476 |
104 | E>V | No |
ClinGen TOPMed |
|
|
rs1235657083 CA379572460 |
105 | H>R | No |
ClinGen gnomAD |
|
|
CA379572468 rs1179018522 |
105 | H>Y | No |
gnomAD ClinGen |
|
|
CA379572443 rs1331788860 |
106 | V>L | No |
gnomAD ClinGen |
|
|
rs1331788860 CA379572448 |
106 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs200235468 CA5870227 |
107 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
COSM246052 CA5870226 rs777078297 |
107 | R>H | prostate [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs200235468 CA379572432 |
107 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs769116452 CA5870225 |
108 | C>S | No |
ExAC gnomAD ClinGen |
|
|
rs775415713 CA5870223 |
112 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs150478668 CA379572350 |
113 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746008587 CA5870221 |
114 | E>A | No |
ExAC gnomAD ClinGen |
|
|
CA379572328 rs1269417359 |
116 | G>E | No |
TOPMed ClinGen |
|
|
rs372646102 CA5870218 |
119 | G>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA5870217 rs777898680 |
121 | Y>H | No |
ExAC gnomAD ClinGen |
|
|
CA5870216 rs756001691 |
122 | N>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA379572235 rs1250500615 |
122 | N>S | No |
ClinGen gnomAD |
|
|
rs752311948 CA5870215 |
123 | Q>* | No |
ExAC gnomAD ClinGen |
|
|
rs752311948 CA379572222 |
123 | Q>E | No |
ExAC gnomAD ClinGen |
|
|
CA217423748 rs941648638 |
124 | V>M | No |
ClinGen TOPMed |
|
|
rs1446829565 CA379572190 |
125 | L>F | No |
gnomAD ClinGen |
|
|
rs1171022677 CA379572163 |
127 | V>M | No |
TOPMed ClinGen |
|
|
CA379572155 rs1422213622 |
128 | A>T | No |
TOPMed ClinGen |
|
|
CA379572126 COSM1510284 rs1295751833 |
130 | P>T | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
TOPMed ClinGen cosmic curated NCI-TCGA |
|
CA379572103 rs1202424374 |
131 | S>I | No |
ClinGen gnomAD |
|
|
rs1279711623 CA379572070 |
133 | E>G | No |
ClinGen gnomAD |
|
|
CA379572056 rs1386744348 |
134 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA379572027 rs1321981487 |
135 | P>L | No |
ClinGen TOPMed |
|
|
CA5870212 rs754666266 |
136 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1218060151 CA379571968 |
139 | A>V | No |
gnomAD ClinGen |
|
|
rs1315889718 CA379571945 |
141 | P>T | No |
ClinGen gnomAD |
|
|
CA379571930 rs1402548403 |
142 | F>L | No |
gnomAD ClinGen |
|
|
rs1172608499 CA379571925 |
142 | F>S | No |
ClinGen gnomAD |
|
|
rs762201492 CA5870209 |
143 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs764639995 CA379571837 |
148 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764639995 CA5870207 |
148 | E>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1266494490 CA379571815 |
149 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1589892927 CA379571813 |
150 | V>I | No |
ClinGen Ensembl |
|
|
rs775641848 CA5870206 |
151 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA5870205 rs775641848 |
151 | T>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5870202 rs774763319 |
152 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5870201 rs771248120 |
153 | E>G | No |
ExAC gnomAD ClinGen |
|
|
CA379571746 rs1208974981 |
154 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs867390777 CA217423611 |
154 | A>V | No |
ClinGen Ensembl |
|
|
rs749163721 CA5870200 |
156 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs749163721 CA379571716 |
156 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1344462295 CA379571676 |
158 | S>L | No |
ClinGen gnomAD |
|
|
CA5870199 rs777698704 |
159 | G>E | No |
ExAC gnomAD ClinGen |
|
|
rs1426418941 CA379571669 |
159 | G>R | No |
ClinGen TOPMed |
|
|
CA217423603 rs866417661 |
160 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
CA5870197 rs201055526 |
161 | K>E | No |
1000Genomes ExAC TOPMed ClinGen |
|
|
CA5870195 rs780788985 |
161 | K>M | No |
ClinGen ExAC |
|
|
CA379571633 rs1166247899 |
163 | S>L | No |
TOPMed ClinGen |
|
|
CA5870193 rs567835890 |
164 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC gnomAD ClinGen NCI-TCGA |
|
CA217423548 rs911261326 |
164 | L>P | No |
TOPMed ClinGen |
|
|
CA379571630 rs911261326 |
164 | L>R | No |
TOPMed ClinGen |
|
|
rs373747719 CA217423544 |
165 | A>T | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs1355827371 CA379571625 |
165 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1401021408 CA379571617 |
166 | P>L | No |
TOPMed ClinGen |
|
|
CA379571605 rs369627106 |
167 | S>C | No |
ESP TOPMed gnomAD ClinGen |
|
|
COSM1703559 CA217423522 rs369627106 |
167 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
rs1311931708 CA379571612 |
167 | S>P | No |
ClinGen gnomAD |
|
|
CA5870191 rs751050670 |
168 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA5870189 rs766083046 |
170 | V>E | No |
ExAC gnomAD ClinGen |
|
|
CA379571571 rs1338690838 |
170 | V>L | No |
TOPMed ClinGen |
|
|
rs376313182 CA5870186 |
172 | Q>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA379571548 rs1473359485 |
173 | G>R | No |
ClinGen gnomAD |
|
|
COSM429951 CA379571539 rs1186100956 |
174 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
RCV000978442 rs753624669 |
175 | A>missing | No |
ClinVar dbSNP |
|
|
COSM1357306 CA379571537 rs1484124969 |
175 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs956748730 CA217423487 |
177 | T>A | No |
ClinGen TOPMed |
|
|
rs1203998811 CA379571507 |
180 | T>A | No |
gnomAD ClinGen |
|
|
CA5870183 rs200044292 |
182 | L>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA5870181 rs529453927 COSM932456 |
183 | A>T | kidney Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs141195926 CA5870180 |
188 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5870179 rs771344538 |
191 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1182238204 CA379571422 |
192 | T>I | No |
TOPMed ClinGen |
|
|
CA5870176 rs769424048 COSM1510285 |
193 | G>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1298395557 CA379571414 |
194 | T>S | No |
TOPMed gnomAD ClinGen |
|
|
CA5870174 rs781027774 |
195 | L>R | No |
ExAC ClinGen |
|
|
CA5870175 rs143042411 |
195 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5870170 rs758062487 |
199 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779476266 CA5870171 |
199 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750030623 CA5870169 |
200 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413050946 CA379571375 |
201 | D>N | No |
gnomAD ClinGen |
|
|
CA217423323 rs1014834876 |
203 | V>D | No |
TOPMed ClinGen |
|
|
CA5870167 rs112986837 |
206 | V>E | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA379571324 rs1248486132 |
208 | C>F | No |
TOPMed gnomAD ClinGen |
|
|
CA379571315 rs1223701909 |
209 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5870166 rs753084569 |
210 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379571300 rs1211664689 |
211 | V>A | No |
gnomAD ClinGen |
|
|
CA5870164 rs760115176 |
214 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5870162 rs766506830 |
216 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047773181 CA217423244 |
217 | S>N | No |
TOPMed gnomAD ClinGen |
|
|
rs546971893 CA5870161 |
218 | K>E | No |
1000Genomes ExAC gnomAD ClinGen |
|
| TCGA novel | 218 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181193809 CA379571254 |
219 | L>P | No |
TOPMed ClinGen |
|
|
rs1370992242 CA379571250 |
220 | E>K | No |
gnomAD ClinGen |
|
|
CA379571238 rs1346125715 |
221 | Q>H | No |
gnomAD ClinGen |
|
|
CA5870160 rs202157379 |
221 | Q>K | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1459200710 CA379571242 |
221 | Q>P | No |
ClinGen gnomAD |
|
|
CA379571232 rs1440847076 |
222 | L>R | No |
TOPMed ClinGen |
|
|
CA379571229 rs1178630845 |
223 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA379571226 rs1406167303 |
223 | L>H | No |
TOPMed ClinGen |
|
|
rs145136961 CA5870154 |
225 | W>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA379571216 rs1435282622 |
225 | W>R | No |
TOPMed ClinGen |
|
|
CA5870155 rs767605774 |
225 | W>S | No |
ExAC ClinGen |
|
|
CA379571208 rs1316145704 |
226 | C>R | No |
gnomAD ClinGen |
|
|
CA217423188 rs901380969 COSM3703714 |
227 | C>Y | liver [Cosmic] | No |
TOPMed ClinGen cosmic curated |
|
CA379571191 rs1453868183 |
228 | G>A | No |
gnomAD ClinGen |
|
|
rs1453868183 CA379571192 |
228 | G>E | No |
gnomAD ClinGen |
|
|
CA5870152 rs768485827 |
228 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771532830 CA5870149 |
229 | D>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs149957176 CA5870151 |
229 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771532830 CA379571188 |
229 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5870150 rs149957176 |
229 | D>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1314692569 CA379571163 |
232 | A>V | No |
gnomAD ClinGen |
|
| TCGA novel | 233 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280287992 CA379571160 |
233 | P>S | No |
gnomAD ClinGen |
|
|
COSM545340 rs182366330 CA5870147 |
235 | T>K | lung [Cosmic] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated |
| TCGA novel | 239 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs562183017 CA5870145 |
242 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs59039403 CA379571058 |
243 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA5870143 rs755554745 |
243 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs59039403 CA5870144 |
243 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs752061770 CA5870141 |
249 | D>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3791976 CA5870140 rs766594735 |
250 | G>D | urinary_tract [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
CA217423125 rs746038036 |
251 | F>S | No |
gnomAD ClinGen |
|
|
CA379570924 rs746038036 |
251 | F>Y | No |
gnomAD ClinGen |
|
|
rs866453738 CA217423120 |
252 | D>Y | No |
Ensembl ClinGen |
|
|
CA379570893 rs758587798 |
253 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758587798 CA5870139 |
253 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5870137 rs146589326 |
256 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs190134590 CA5870136 |
256 | R>T | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1170893139 CA379570816 |
257 | P>L | No |
ClinGen gnomAD |
|
|
CA379570819 rs1185780526 |
257 | P>T | No |
TOPMed gnomAD ClinGen |
|
|
CA379570808 rs1238890232 |
258 | F>L | No |
TOPMed gnomAD ClinGen |
|
|
CA5870133 rs369143376 |
264 | K>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs775447358 CA5870131 |
265 | R>G | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 265 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200543557 CA217423028 |
265 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1424988187 CA379570759 |
265 | R>T | No |
ClinGen TOPMed |
|
|
rs745440833 CA5870129 |
266 | G>S | No |
ExAC gnomAD ClinGen |
|
|
rs149006578 COSM108118 CA217422981 |
269 | P>T | skin [Cosmic] | No |
Ensembl ClinGen cosmic curated |
|
CA5870126 rs143710587 |
270 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379570713 rs930729962 |
271 | E>D | No |
Ensembl ClinGen |
|
|
rs770493117 CA5870125 |
273 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs770493117 CA379570680 |
273 | L>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1344708334 CA379570650 |
275 | H>R | No |
TOPMed ClinGen |
|
|
rs747343602 CA5870121 |
275 | H>Y | No |
ExAC gnomAD ClinGen |
|
|
CA5870120 rs780751430 |
276 | L>F | No |
ExAC gnomAD ClinGen |
|
|
CA379570543 rs1317949573 |
281 | H>R | No |
TOPMed ClinGen |
|
|
rs1279705352 CA379570548 |
281 | H>Y | No |
TOPMed ClinGen |
|
|
CA379570532 rs1485106735 |
282 | T>A | No |
TOPMed gnomAD ClinGen |
|
|
rs1485106735 CA379570534 |
282 | T>P | No |
TOPMed gnomAD ClinGen |
|
|
rs920560417 CA379570517 |
283 | L>F | No |
gnomAD ClinGen |
|
|
CA217422939 rs920560417 |
283 | L>V | No |
ClinGen gnomAD |
|
|
CA217422934 rs969084824 |
284 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
CA379570464 rs1480667056 |
286 | C>Y | No |
gnomAD ClinGen |
|
|
rs1251292502 CA379570447 |
287 | S>P | No |
gnomAD ClinGen |
|
|
rs1246431894 CA379570419 |
289 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5870112 rs775252675 |
293 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760514551 CA5870113 |
293 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5870111 rs767510719 |
294 | P>T | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 295 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759450950 CA5870110 |
295 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs771892493 CA5870109 |
296 | A>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1235392060 CA379570314 |
296 | A>V | No |
ClinGen gnomAD |
|
|
CA379570267 rs1564877932 |
302 | P>T | No |
Ensembl ClinGen |
|
|
rs770424200 CA5870108 |
307 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773037550 CA5870107 |
308 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773037550 CA5870106 |
308 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5870105 rs537065907 |
310 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA217422769 rs150634549 |
312 | I>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA217422775 rs150634549 |
312 | I>L | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs780557268 CA5870103 |
312 | I>N | No |
ExAC gnomAD ClinGen |
|
|
rs901330048 CA217422754 |
314 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
CA379570176 rs1194614550 |
316 | S>F | No |
gnomAD ClinGen |
|
|
rs1401775844 CA379570170 |
317 | E>V | No |
gnomAD ClinGen |
|
| TCGA novel | 318 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1031847278 CA217422728 |
319 | E>K | No |
Ensembl ClinGen |
|
|
CA5870098 rs757399336 |
320 | R>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs757399336 CA379570150 |
320 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1357305 rs753840685 CA5870097 |
321 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1335269751 CA379570138 |
322 | R>K | No |
ClinGen gnomAD |
|
|
CA5870096 rs778027403 |
322 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5870095 rs756325316 |
323 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752492677 CA5870094 |
325 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379570116 rs752492677 |
325 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5870092 rs142828337 |
327 | Y>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA5870093 rs767241055 |
327 | Y>H | No |
ExAC ClinGen |
|
|
CA379570097 rs1239228787 |
328 | F>S | No |
TOPMed ClinGen |
|
|
rs201964741 CA5870091 |
329 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA379570087 rs1174649883 |
330 | D>N | No |
ClinGen gnomAD |
|
|
rs1182337632 CA379570062 |
333 | Q>* | No |
ClinGen TOPMed |
|
|
CA5870089 rs772831029 |
334 | A>D | No |
ExAC gnomAD ClinGen |
|
|
rs762570801 CA5870090 |
334 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs769633407 CA5870088 |
335 | D>G | No |
ExAC gnomAD ClinGen |
|
|
CA5870087 rs534455428 |
336 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs534455428 CA217422671 |
336 | R>G | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs776023158 COSM3687674 CA379570043 |
336 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs776023158 CA5870086 |
336 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5870085 rs376651772 |
337 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5870083 rs148505423 |
338 | F>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs746190226 CA5870084 |
338 | F>V | No |
ExAC gnomAD ClinGen |
|
|
rs1205958763 CA379570025 |
339 | D>E | No |
TOPMed gnomAD ClinGen |
|
|
rs144864261 CA5870082 |
339 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379570023 rs1350140300 |
340 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 342 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313797331 CA379569991 |
344 | N>S | No |
ClinGen TOPMed |
|
|
CA5870080 rs777764508 |
346 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1238797399 CA379569970 |
347 | L>P | No |
TOPMed gnomAD ClinGen |
|
|
rs1381182659 CA379569973 |
347 | L>V | No |
TOPMed ClinGen |
|
|
CA5870079 rs756341783 |
348 | Y>* | No |
ExAC gnomAD ClinGen |
|
|
rs1440030202 CA379569967 |
348 | Y>H | No |
gnomAD ClinGen |
|
|
CA379569947 COSM1357303 rs1382443858 |
350 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1156422466 CA379569941 |
351 | C>Y | No |
gnomAD ClinGen |
|
|
CA5870077 rs752866707 |
352 | Q>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs780994065 CA217422605 |
352 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762414203 CA217422600 |
354 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs751286580 COSM378951 CA5870074 |
355 | G>D | lung Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ExAC ClinGen cosmic curated NCI-TCGA |
|
CA379569914 rs1302605892 |
356 | I>F | No |
gnomAD ClinGen |
|
|
CA379569896 rs1453054589 |
358 | W>S | No |
gnomAD ClinGen |
|
|
CA379569888 rs1194422236 |
359 | V>G | No |
gnomAD ClinGen |
|
|
rs181711671 CA5870071 |
359 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 361 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446771095 CA379569880 |
361 | C>R | No |
gnomAD ClinGen |
|
|
rs1259975802 CA379569874 |
361 | C>W | No |
gnomAD ClinGen |
|
|
rs868321989 CA217422577 |
362 | S>F | No |
ClinGen Ensembl |
|
|
rs761591518 CA5870069 |
363 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1241404734 CA379569835 |
365 | Q>L | No |
TOPMed ClinGen |
|
|
CA5870067 rs768173093 |
366 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs776466169 CA5870068 |
366 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA379569772 rs1227942772 |
368 | M>I | No |
TOPMed gnomAD ClinGen |
|
|
rs778966346 CA217422562 |
368 | M>T | No |
ClinGen Ensembl |
|
|
CA379569755 rs1441086645 |
369 | E>D | No |
TOPMed gnomAD ClinGen |
|
|
rs774575012 CA5870064 |
369 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA379569756 rs1315818135 |
369 | E>V | No |
ClinGen gnomAD |
|
|
rs78591080 CA5870063 |
370 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 371 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379569730 rs1564877699 |
371 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5870061 rs777852480 |
372 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs777852480 CA379569703 |
372 | K>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1589892187 CA379569695 |
373 | V>I | No |
Ensembl ClinGen |
|
|
rs1564877692 CA379569675 |
374 | V>D | No |
ClinGen Ensembl |
|
|
rs200019436 CA5870060 |
374 | V>F | No |
1000Genomes ExAC ClinGen |
|
|
CA379569662 rs1422342897 |
375 | L>S | No |
gnomAD ClinGen |
|
|
CA379569642 rs1335733605 |
376 | E>A | No |
ClinGen gnomAD |
|
|
CA5870057 rs754812454 |
377 | T>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs147291832 CA5870056 |
377 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA5870055 rs746884387 |
378 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA379569615 rs1172318108 |
378 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 379 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375061053 CA217422492 |
380 | N>S | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA379569570 rs1439622965 |
381 | S>G | No |
gnomAD ClinGen |
|
|
rs750350403 CA5870052 |
382 | T>S | No |
ClinGen ExAC |
|
|
rs138761418 CA217422480 |
384 | I>F | No |
ClinGen ESP gnomAD |
|
|
CA5870051 rs150112481 |
384 | I>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA379569486 rs1261272833 |
385 | F>L | No |
TOPMed ClinGen |
|
|
CA379569455 rs1459146166 |
386 | M>L | No |
TOPMed ClinGen |
|
|
CA5870050 rs756879833 |
386 | M>T | Variant assessed as Somatic; 9.249e-05 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA379569389 rs1292278473 |
389 | V>A | No |
ClinGen gnomAD |
|
|
COSM932453 rs763875533 CA5870048 |
389 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA379569381 rs1355744078 |
390 | S>A | No |
gnomAD ClinGen |
|
|
rs867689286 CA217422454 |
390 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
CA379569367 rs1409848074 |
391 | T>N | No |
ClinGen gnomAD |
|
|
CA379569354 rs1167471251 |
392 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5870045 rs766603529 |
392 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA217422414 rs766603529 |
392 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379569356 rs1167471251 |
392 | F>S | No |
TOPMed gnomAD ClinGen |
|
|
rs143606704 CA217422404 |
393 | L>Q | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs763481272 CA5870044 |
394 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA379569329 rs1466764312 |
394 | P>S | No |
ClinGen TOPMed |
|
|
rs1239454428 CA379569256 |
396 | D>E | No |
ClinGen gnomAD |
|
|
CA379569267 rs1396380222 |
396 | D>G | No |
ClinGen TOPMed |
|
|
rs1332579904 CA379569281 |
396 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1390209153 CA379569235 |
397 | D>E | No |
TOPMed ClinGen |
|
|
rs1233475262 CA379569240 |
397 | D>V | No |
ClinGen gnomAD |
|
|
rs993450082 CA379569207 |
398 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA379569230 rs1182450950 |
398 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA379569202 rs1256073846 |
399 | G>E | No |
gnomAD ClinGen |
|
|
CA379569203 rs1564877598 |
399 | G>W | No |
Ensembl ClinGen |
|
|
CA217422374 rs994412727 |
400 | G>A | No |
TOPMed gnomAD ClinGen |
|
|
CA379569184 rs994412727 |
400 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA217422365 rs776567093 |
403 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ExAC TOPMed ClinGen NCI-TCGA |
|
CA5870040 rs776567093 |
403 | E>Q | No |
ClinGen ExAC TOPMed |
|
|
CA217422355 rs759478163 |
404 | L>P | No |
ExAC gnomAD ClinGen |
|
|
CA5870038 rs759478163 |
404 | L>R | No |
ExAC gnomAD ClinGen |
|
|
CA5870039 rs768922842 |
404 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5870036 rs758312399 |
405 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5870037 rs779933795 |
405 | S>P | No |
ExAC gnomAD ClinGen |
|
|
rs200564965 CA5870035 |
406 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA379569062 COSM3687673 rs1442127677 |
406 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA217422331 rs370557503 |
410 | L>M | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs757257744 CA5870034 |
411 | R>S | No |
ExAC gnomAD ClinGen |
|
|
CA5870032 rs545999929 |
413 | L>M | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs573983209 CA5870029 |
413 | L>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA5870030 rs573983209 |
413 | L>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA217422291 rs545999929 |
413 | L>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1269132615 CA379568841 COSM232883 |
415 | S>F | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1468654786 CA379568814 |
417 | A>E | No |
ClinGen gnomAD |
|
|
rs763355031 CA5870027 |
417 | A>T | No |
ExAC gnomAD ClinGen |
|
|
CA217422233 rs753393346 |
419 | E>D | No |
gnomAD ClinGen |
|
|
CA379568782 rs1236333770 |
419 | E>K | No |
ClinGen gnomAD |
|
|
rs1286152816 COSM223440 CA379568741 |
420 | G>E | skin [Cosmic] | No |
gnomAD ClinGen cosmic curated |
|
CA379568651 rs1468775559 |
424 | Q>H | No |
gnomAD ClinGen |
|
|
CA5870026 rs773548918 |
425 | R>T | No |
ExAC gnomAD ClinGen |
|
|
rs373870786 CA5870025 |
426 | F>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA379568601 rs1284517083 |
427 | L>V | No |
gnomAD ClinGen |
|
|
CA379568580 rs1222769397 |
428 | F>V | No |
gnomAD ClinGen |
|
|
CA217422180 rs995950260 |
430 | E>A | No |
ClinGen Ensembl |
|
|
CA379568542 rs1372068484 |
430 | E>K | No |
ClinGen TOPMed |
|
|
rs776782676 CA5870023 |
434 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs113717245 CA5870021 |
435 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1285607994 CA379568418 |
436 | H>D | No |
ClinGen gnomAD |
|
|
CA5870020 rs775626026 |
437 | N>D | No |
ClinGen ExAC |
|
|
CA5870017 rs745725960 CA379568322 |
439 | D>E | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 441 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 441 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 443 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771006863 CA5870015 |
444 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs749132635 CA5870014 |
445 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA5870013 rs143403695 |
446 | F>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA5870012 rs755619010 |
447 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs752228165 CA5870011 |
448 | S>G | No |
ExAC gnomAD ClinGen |
|
|
rs780879496 CA5870010 |
449 | S>T | No |
ExAC gnomAD ClinGen |
|
|
CA5870009 rs56052845 CA379568099 |
450 | N>K | No |
ExAC gnomAD ClinGen |
|
|
rs1235671505 CA379568052 |
452 | Y>* | No |
gnomAD ClinGen |
|
|
CA5870008 rs370123497 |
452 | Y>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1347873535 CA379568034 |
453 | Q>R | No |
ClinGen gnomAD |
|
|
rs1363056033 CA379568005 |
454 | L>S | No |
gnomAD ClinGen |
|
|
rs1044851213 CA379567979 |
455 | G>E | No |
TOPMed gnomAD ClinGen |
|
|
rs1044851213 CA217422095 |
455 | G>V | No |
TOPMed gnomAD ClinGen |
|
|
CA217422094 rs376883095 |
456 | L>F | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA5870005 rs754346424 |
457 | A>T | No |
ExAC gnomAD ClinGen |
|
|
CA379567938 COSM415721 rs1313490095 |
457 | A>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs140992190 CA379567936 |
458 | I>L | No |
ESP ExAC gnomAD ClinGen |
|
|
rs140992190 CA5870004 |
458 | I>V | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1399044985 CA379567890 |
460 | K>* | No |
gnomAD ClinGen |
|
|
CA5870003 rs760727623 |
461 | F>L | No |
ExAC TOPMed ClinGen |
|
|
rs775635853 CA5870001 |
462 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
rs1173846294 CA379567819 |
463 | S>G | No |
gnomAD ClinGen |
|
|
rs772428914 CA5870000 |
465 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5869999 COSM1357302 rs373437486 |
465 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA379567752 rs1192493570 |
466 | H>Y | No |
ClinGen gnomAD |
|
|
rs1260366120 CA379567721 |
467 | I>N | No |
TOPMed ClinGen |
|
|
rs1260366120 CA379567719 |
467 | I>T | No |
TOPMed ClinGen |
|
|
rs371421931 CA5869997 |
470 | Q>E | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1211049722 CA379567647 |
470 | Q>R | No |
ClinGen gnomAD |
|
|
rs1386383301 CA379567609 |
471 | D>E | No |
TOPMed ClinGen |
|
|
CA5869996 rs777618054 |
472 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs369396542 CA5869995 |
473 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1162048820 | 474 | H>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780611709 CA5869993 |
476 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1217039945 CA379567521 |
476 | M>V | No |
ClinGen gnomAD |
|
|
rs77351963 CA217421981 |
477 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ESP TOPMed ClinGen NCI-TCGA |
|
rs182447415 CA217421984 |
477 | S>T | No |
1000Genomes ClinGen |
|
|
rs77351963 CA217421982 |
477 | S>Y | No |
ClinGen ESP TOPMed |
|
|
CA379567488 rs751160703 CA5869991 |
478 | Y>* | No |
ExAC gnomAD ClinGen |
|
|
CA5869992 rs754634215 |
478 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
CA379567494 rs1185488449 |
478 | Y>H | No |
gnomAD ClinGen |
|
|
rs150008504 CA5869990 |
482 | E>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs139254545 CA5869989 |
483 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1354897496 CA379567417 |
483 | D>N | No |
ClinGen gnomAD |
|
|
CA5869987 rs764578372 |
484 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
CA5869988 rs754219299 |
484 | Q>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs201321755 CA5869985 |
486 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1314617542 CA379567374 |
486 | R>Q | No |
ClinGen gnomAD |
|
|
CA379567376 rs201321755 |
486 | R>W | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1179477953 CA379567360 |
487 | L>P | No |
gnomAD ClinGen |
|
| TCGA novel | 490 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379567320 rs1257975968 |
490 | E>Q | No |
TOPMed gnomAD ClinGen |
|
|
rs767658355 CA5869983 |
491 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM26520 CA379567272 rs1337384075 |
492 | R>C | lung Variant assessed as Somatic; 0.0 impact. prostate [Cosmic, NCI-TCGA] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs114121282 CA5869982 |
492 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs774753115 CA5869981 |
494 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5869980 rs766684517 |
495 | V>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA217421892 rs868267055 |
497 | R>K | No |
Ensembl ClinGen |
|
|
rs373514352 CA379567159 CA5869977 |
497 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs868267055 CA379567165 |
497 | R>T | No |
Ensembl ClinGen |
|
|
rs1444354152 CA379567088 |
501 | V>G | No |
ClinGen gnomAD |
|
|
rs571019298 CA5869976 |
502 | K>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 502 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768112097 CA5869973 |
504 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA379567022 rs1160746967 |
505 | E>K | No |
gnomAD ClinGen |
|
|
rs202121901 CA5869972 |
507 | N>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA379566967 rs1253972275 |
508 | D>A | No |
gnomAD ClinGen |
|
|
CA217421866 rs921459273 |
508 | D>E | No |
TOPMed gnomAD ClinGen |
|
|
rs779742470 CA5869971 |
508 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5869970 rs758069884 |
509 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs749621902 CA5869969 |
510 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs537789076 CA5869968 |
511 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1420086762 CA379566917 |
511 | T>I | No |
TOPMed ClinGen |
|
|
CA379566915 rs1308483811 |
512 | L>F | No |
gnomAD ClinGen |
|
|
rs1444417217 COSM932451 CA379566892 |
513 | T>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA379566881 rs1326258525 |
514 | M>T | No |
gnomAD ClinGen |
|
|
CA5869965 rs768104821 |
518 | L>P | No |
ExAC gnomAD ClinGen |
|
|
CA5869964 rs755155590 |
521 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144948801 CA5869962 |
523 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763165684 CA5869959 |
524 | D>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA217421776 rs1008513939 |
525 | S>N | No |
Ensembl ClinGen |
|
|
rs1002791594 CA217421764 |
527 | S>A | No |
TOPMed gnomAD ClinGen |
|
|
rs1224105411 CA379566617 |
527 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 528 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5869956 rs765030545 |
532 | K>N | No |
ExAC gnomAD ClinGen |
|
|
CA5869955 rs528567579 |
533 | F>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs141049984 CA5869952 |
534 | C>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs746592721 CA5869951 |
536 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA379566245 rs1237876020 |
538 | S>P | No |
gnomAD ClinGen |
|
|
rs1329108764 CA379566180 |
540 | C>* | No |
ClinGen gnomAD |
|
|
CA379566191 rs1275358243 |
540 | C>R | No |
gnomAD ClinGen |
|
|
CA5869949 rs771637650 |
540 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 541 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379566121 rs1589891561 |
541 | L>F | No |
Ensembl ClinGen |
|
|
rs1382393492 CA379566103 |
542 | A>E | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs559811375 CA5869948 |
542 | A>P | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1382393492 CA379566094 |
542 | A>V | No |
ClinGen gnomAD |
|
|
rs375766407 CA217421717 |
544 | D>H | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 548 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379565875 rs1436023532 |
549 | K>I | No |
gnomAD ClinGen |
|
|
rs748500424 CA5869945 |
550 | E>G | No |
ExAC gnomAD ClinGen |
|
|
CA217421712 rs868150302 |
550 | E>K | No |
Ensembl ClinGen |
|
|
rs144039243 CA217421705 |
551 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ClinGen NCI-TCGA |
|
rs781778609 CA5869944 |
553 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1564877121 CA379565626 |
558 | N>H | No |
Ensembl ClinGen |
|
|
CA5869941 rs766420330 |
558 | N>I | No |
ExAC gnomAD ClinGen |
|
|
CA5869939 rs750615768 |
560 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5869937 rs761657326 |
561 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5869936 rs753628077 |
561 | W>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5869935 rs764028122 |
562 | D>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1356170788 CA379565483 |
563 | L>F | No |
TOPMed ClinGen |
|
|
CA379565455 rs1342643838 |
564 | E>D | No |
gnomAD ClinGen |
|
| TCGA novel | 564 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379565406 rs1297380380 |
567 | L>P | No |
ClinGen TOPMed |
|
|
rs760551628 CA5869933 |
568 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5869932 rs774885629 |
569 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs771572821 CA5869931 |
570 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1416129059 CA379565289 |
574 | N>K | No |
gnomAD ClinGen |
|
|
rs1334110272 CA379565256 |
577 | K>E | No |
gnomAD ClinGen |
|
| TCGA novel | 578 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 578 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322153503 CA379565187 CA379565189 |
581 | M>I | No |
ClinGen TOPMed |
|
|
CA217421549 rs368801555 CA5869929 |
582 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1399087266 CA379565174 |
583 | N>D | No |
gnomAD ClinGen |
|
| TCGA novel | 584 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770474661 CA5869928 |
584 | V>I | No |
ExAC gnomAD ClinGen |
|
|
rs1421821837 CA379565060 |
589 | K>E | No |
gnomAD ClinGen |
|
|
CA5869926 rs781634786 |
591 | S>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5869923 rs375233764 COSM932447 |
594 | K>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs747466111 CA5869924 |
594 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5869922 rs758542635 |
596 | S>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 596 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199087324 CA379564876 |
597 | Q>* | No |
gnomAD ClinGen |
|
|
rs912260257 CA217421505 |
598 | S>G | No |
TOPMed ClinGen |
|
|
CA5869921 rs201769171 |
598 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 599 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5869920 rs779263910 |
599 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 600 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753649634 CA5869918 |
610 | H>R | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 611 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379564450 rs1268417555 |
613 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1398509830 CA379564440 |
613 | K>T | No |
ClinGen gnomAD |
|
|
rs1167402949 CA379564406 |
614 | E>A | No |
gnomAD ClinGen |
|
|
CA379564350 rs750141713 |
615 | E>D | No |
ClinGen gnomAD |
|
|
rs752722895 CA5869915 |
617 | K>I | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 617 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752722895 CA379564285 |
617 | K>T | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 618 | C>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161607378 CA379564265 |
618 | C>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA5869914 rs767336564 |
619 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1021889771 CA217421471 |
621 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
rs149473831 CA379564179 |
622 | H>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA5869912 rs773727714 |
622 | H>R | No |
ExAC gnomAD ClinGen |
|
|
rs149473831 CA5869913 |
622 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 625 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000089595 rs199476233 |
625 | K>missing | No |
ClinVar dbSNP |
|
|
CA379564093 rs1303589546 |
626 | E>K | No |
TOPMed ClinGen |
|
| TCGA novel | 627 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379564045 rs1215180936 COSM84044 |
627 | G>D | pancreas [Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated |
|
rs199475856 CA217421434 |
629 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777154742 CA5869909 |
631 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1214429721 CA379563920 |
631 | I>T | No |
TOPMed ClinGen |
|
|
rs137920368 CA217421432 |
632 | A>T | No |
ESP gnomAD ClinGen |
|
|
CA5869908 rs116880092 |
633 | G>E | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1370317151 CA379563860 |
635 | Q>* | No |
ClinGen gnomAD |
|
|
CA379563800 rs1589891349 |
639 | S>T | No |
Ensembl ClinGen |
|
|
CA379563742 rs1589891342 |
643 | G>A | No |
Ensembl ClinGen |
|
|
CA5869906 rs747302405 |
645 | G>A | No |
ExAC gnomAD ClinGen |
|
|
CA379563701 rs1349561929 |
646 | T>I | No |
ClinGen gnomAD |
|
|
CA379563697 rs1321788996 COSM1298674 |
647 | E>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA379563681 rs1380941090 |
648 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs745968010 CA5869903 |
649 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs745968010 CA379563659 |
649 | T>K | No |
ExAC gnomAD ClinGen |
|
|
rs543301243 CA5869904 |
649 | T>P | No |
ClinGen 1000Genomes ExAC |
|
|
rs1378392275 CA379563651 |
650 | P>Q | No |
gnomAD ClinGen |
|
|
CA379563656 rs1438946469 |
650 | P>T | No |
ClinGen gnomAD |
|
|
rs1392300596 CA379563645 |
651 | K>E | No |
TOPMed gnomAD ClinGen |
|
| rs1195340578 | 652 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1195340578 | 652 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333620612 CA379563619 |
652 | N>S | No |
gnomAD ClinGen |
|
|
rs574424638 CA5869902 |
653 | T>N | No |
1000Genomes ExAC gnomAD ClinGen |
|
| TCGA novel | 654 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5869901 rs757497512 |
656 | I>E | No |
ClinGen ExAC gnomAD |
No associated diseases with Q86W26
Functions
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extrinsic component of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| defense response to fungus | Reactions triggered in response to the presence of a fungus that act to protect the cell or organism. |
| defense response to Gram-negative bacterium | Reactions triggered in response to the presence of a Gram-negative bacterium that act to protect the cell or organism. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| positive regulation of defense response to bacterium | Any process that activates or increases the frequency, rate or extent of defense response to bacterium. |
| positive regulation of inflammatory response | Any process that activates or increases the frequency, rate or extent of the inflammatory response. |
| positive regulation of interleukin-1 alpha production | Any process that activates or increases the frequency, rate, or extent of interleukin-1 alpha production. |
| positive regulation of interleukin-6 production | Any process that activates or increases the frequency, rate, or extent of interleukin-6 production. |
| positive regulation of interleukin-8 production | Any process that activates or increases the frequency, rate, or extent of interleukin-8 production. |
| positive regulation of T-helper 1 type immune response | Any process that activates or increases the frequency, rate, or extent of a T-helper 1 type immune response. |
| positive regulation of T-helper 17 type immune response | Any process that activates or increases the frequency, rate or extent of T-helper 17 type immune response. |
| regulation of inflammatory response | Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9NX02 | NLRP2 | NACHT, LRR and PYD domains-containing protein 2 | Homo sapiens (Human) | PR |
| Q96P20 | NLRP3 | NACHT, LRR and PYD domains-containing protein 3 | Homo sapiens (Human) | EV |
| P59046 | NLRP12 | NACHT, LRR and PYD domains-containing protein 12 | Homo sapiens (Human) | SS |
| Q8CCN1 | Nlrp10 | NACHT, LRR and PYD domains-containing protein 10 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAMAKARKPR | EALLWALSDL | EENDFKKLKF | YLRDMTLSEG | QPPLARGELE | GLIPVDLAEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LISKYGEKEA | VKVVLKGLKV | MNLLELVDQL | SHICLHDYRE | VYREHVRCLE | EWQEAGVNGR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YNQVLLVAKP | SSESPESLAC | PFPEQELESV | TVEALFDSGE | KPSLAPSLVV | LQGSAGTGKT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TLARKMVLDW | ATGTLYPGRF | DYVFYVSCKE | VVLLLESKLE | QLLFWCCGDN | QAPVTEILRQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PERLLFILDG | FDELQRPFEE | KLKKRGLSPK | ESLLHLLIRR | HTLPTCSLLI | TTRPLALRNL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EPLLKQARHV | HILGFSEEER | ARYFSSYFTD | EKQADRAFDI | VQKNDILYKA | CQVPGICWVV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CSWLQGQMER | GKVVLETPRN | STDIFMAYVS | TFLPPDDDGG | CSELSRHRVL | RSLCSLAAEG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IQHQRFLFEE | AELRKHNLDG | PRLAAFLSSN | DYQLGLAIKK | FYSFRHISFQ | DFFHAMSYLV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KEDQSRLGKE | SRREVQRLLE | VKEQEGNDEM | TLTMQFLLDI | SKKDSFSNLE | LKFCFRISPC |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LAQDLKHFKE | QMESMKHNRT | WDLEFSLYEA | KIKNLVKGIQ | MNNVSFKIKH | SNEKKSQSQN |
| 610 | 620 | 630 | 640 | 650 | |
| LFSVKSSLSH | GPKEEQKCPS | VHGQKEGKDN | IAGTQKEAST | GKGRGTEETP | KNTYI |