P59046
SS
Gene name |
NLRP12 (NALP12, PYPAF7, RNO) |
Protein name |
NACHT, LRR and PYD domains-containing protein 12 |
Names |
Monarch-1 , PYRIN-containing APAF1-like protein 7 , Regulated by nitric oxide |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:91662 |
EC number |
|
Protein Class |
|
Descriptions
PYPAF1 (PYRIN-containing Apaf1-like protein 1) is a novel PYRIN-containing signaling protein that belongs to the nucleotide-binding site/leucine-rich repeat (NBS/LRR) family of signaling proteins. C-terminal leucine-rich repeats (LRRs) may function as a negative regulator of PYPAF1 activity. PYPAF1 and ASC function to regulate the activation of NF-B.
Autoinhibitory domains (AIDs)
Target domain |
4-92 (PYRIN domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for P59046
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2L6A | NMR | - | A | 1-98 | PDB |
| 4XHS | X-ray | 170 A | A/B | 10-106 | PDB |
| 5H7N | X-ray | 185 A | A/B | 9-106 | PDB |
| AF-P59046-F1 | Predicted | AlphaFoldDB |
1589 variants for P59046
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002264275 RCV001553069 rs1386409873 RCV001348316 |
1 | M>L | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325716 rs2092309461 |
1 | M>T | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761868541 RCV000800208 |
3 | R>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs761545315 CA9639861 RCV002521248 RCV002263591 RCV000907030 |
5 | A>E | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001056877 rs374037208 |
5 | A>T | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs773831845 RCV001131322 |
7 | R>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM322048 CA407419489 rs577507616 RCV000645635 |
8 | D>E | lung Familial cold autoinflammatory syndrome 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762604819 RCV001369394 |
9 | G>S | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001960400 rs775129261 |
10 | L>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1686297 COSM1686298 rs370612027 RCV001051608 |
12 | R>C | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001205752 rs376754003 COSM1396147 |
12 | R>H | large_intestine Familial cold autoinflammatory syndrome 2 [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001058344 rs374428779 |
13 | L>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000788546 RCV003411731 rs1599879570 RCV003235395 RCV001784400 |
16 | Y>missing | Familial cold autoinflammatory syndrome 2 NLRP12-related condition [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1446525646 RCV000705484 |
25 | L>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs2092308139 RCV001238523 |
27 | K>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000698166 rs143182167 |
28 | F>L | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs373357561 RCV002262109 |
35 | A>E | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs149098000 RCV001200247 RCV002559278 |
35 | A>T | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs373357561 RCV002533892 RCV000762037 |
35 | A>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001059925 rs200568545 |
37 | E>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2122812698 RCV002262112 |
39 | G>R | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000273265 RCV000248558 VAR_053620 rs34436714 RCV001689937 CA9639831 RCV001286447 |
39 | G>V | Familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1271135647 RCV002023733 |
40 | E>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs756104068 COSM3538493 COSM3538494 RCV001866827 |
41 | G>S | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs886054611 CA10652229 RCV000358537 |
46 | G>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs758138704 RCV003095944 RCV002262117 |
52 | G>D | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP |
|
RCV000541640 RCV002263784 rs369053968 RCV001755852 CA9639825 |
52 | G>S | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 (fcas2) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000803295 rs752350185 |
53 | P>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764835509 RCV001067951 RCV001311907 |
54 | L>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003495268 rs1307106759 RCV002262121 |
59 | L>missing | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001939239 rs776191575 |
60 | L>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2122811779 RCV001985828 |
65 | G>A | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000530702 CA407419134 rs376902606 |
65 | G>R | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001304310 rs372898890 |
69 | A>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001204458 rs146793418 |
70 | W>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002033337 rs2122811413 |
76 | T>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001318061 rs2092306297 |
78 | E>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1445163997 RCV002046857 |
78 | E>K | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001726305 RCV000695321 rs144936138 |
79 | R>Q | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs369320436 RCV002033637 |
84 | D>N | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs764855416 RCV001042044 |
87 | E>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002262136 rs753292620 RCV003095946 |
89 | G>R | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV001892693 rs1477252514 |
92 | E>D | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001322113 rs763354608 |
95 | V>L | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1271514228 RCV001065722 |
99 | P>L | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002521247 RCV002263589 RCV000884290 rs200813801 CA9639769 |
100 | P>S | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2092134890 RCV001246180 |
101 | G>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs141436635 RCV003495231 RCV001091268 |
103 | P>L | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002264279 RCV001359107 rs369508681 |
104 | S>C | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200270922 RCV001338657 |
109 | Q>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1290493565 RCV001216405 |
117 | S>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs773438934 RCV001896268 |
121 | P>Q | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001348100 rs377242049 |
126 | Q>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000778553 rs749761816 |
129 | Y>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002031180 rs2122684214 TCGA novel |
131 | D>N | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV001055923 rs781619673 RCV002553804 |
132 | Y>C | Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002020032 rs200217675 |
134 | R>C | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000645646 CA9639719 RCV003411524 rs142971951 |
138 | R>W | Familial cold autoinflammatory syndrome 2 NLRP12-related condition [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000967715 RCV002263588 CA9639714 rs34330210 RCV001702615 |
142 | D>N | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs760185291 RCV001362677 COSM3404561 COSM3404560 |
143 | R>H | Variant assessed as Somatic; MODERATE impact. central_nervous_system Familial cold autoinflammatory syndrome 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001915024 rs2122683509 |
144 | N>T | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001374335 rs780751328 |
145 | A>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV003053434 COSM4889422 COSM4889421 rs200736514 RCV002106384 |
146 | R>C | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001535540 RCV001206804 rs757517539 |
148 | G>R | NLRP12-related conditions Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001802672 rs746324074 RCV003289098 |
150 | C>S | Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs777944221 RCV001327786 |
151 | V>I | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000585074 RCV001284901 CA9639700 rs759034762 |
152 | N>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001128684 rs374197946 |
152 | N>K | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP |
|
rs753636285 RCV002262145 |
156 | R>L | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000801384 rs145803984 COSM1396146 COSM4785660 |
156 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine Familial cold autoinflammatory syndrome 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002004471 rs760404956 |
158 | T>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000821457 rs770426590 |
174 | Q>E | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2092067719 RCV001316381 |
175 | Q>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000803886 rs777079738 |
176 | L>F | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001764578 RCV002263785 CA9639684 rs145156267 RCV000559730 |
179 | T>I | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 (fcas2) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002264258 RCV001297106 rs553635077 |
180 | G>D | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs563974183 RCV001135678 |
180 | G>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002263989 rs758607519 RCV000798644 |
181 | R>W | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs766308091 RCV000393979 COSM440231 CA9639676 |
184 | A>T | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1471225 RCV001065723 rs2092066775 COSM4879473 |
184 | A>V | Variant assessed as Somatic; MODERATE impact. prostate Familial cold autoinflammatory syndrome 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP |
|
rs147355465 RCV000892790 RCV003222167 |
187 | V>M | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001067831 rs774008748 |
192 | S>I | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
COSM4868025 RCV002050978 COSM1000899 rs1177743594 |
194 | I>T | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP gnomAD |
|
rs199829926 RCV001926100 |
198 | T>N | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001980696 rs2122680898 |
203 | D>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001998750 rs748313621 COSM1526217 |
204 | E>K | lung Familial cold autoinflammatory syndrome 2 [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001135677 CA9639659 RCV000522253 RCV002263727 rs111754022 |
206 | R>C | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000806275 COSM1217448 rs139461508 |
206 | R>H | large_intestine Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 (fcas2) [Cosmic, ClinVar, Ensembl] | Yes |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001060710 rs111754022 |
206 | R>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000645636 rs750186083 CA9639657 |
207 | P>S | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001337762 rs771274238 RCV002264270 |
208 | E>A | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs751219722 RCV003411775 COSM3538481 RCV000805193 COSM3538480 |
208 | E>K | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 NLRP12-related condition [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001002447 RCV002263586 rs377594629 CA9639652 |
210 | P>L | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs561178624 RCV001985340 |
211 | R>C | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002263929 COSM3707368 COSM3707369 RCV000685494 rs374108426 |
211 | R>H | liver Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 (fcas2) [Cosmic, NCI-TCGA, ClinVar, Ensembl] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001973168 rs561178624 |
211 | R>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1162807112 RCV001135676 |
212 | T>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs762132235 RCV000691442 |
213 | V>M | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10643180 rs886054610 RCV000385406 |
214 | V>A | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001042441 rs768852576 |
215 | M>T | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002027836 rs2122680092 |
218 | A>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM4081100 COSM273018 RCV000809496 rs749659859 |
218 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine Familial cold autoinflammatory syndrome 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2092063889 RCV001245435 |
219 | A>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001951993 rs1321841169 |
219 | A>E | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
TCGA novel RCV001351523 rs1288515851 |
221 | I>V | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003600424 rs371385297 RCV002261625 |
222 | G>D | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001313910 rs761110604 |
232 | L>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000799278 COSM1217449 rs141779249 |
235 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine Familial cold autoinflammatory syndrome 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003130701 rs2122678718 RCV002262147 |
242 | G>D | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002262148 rs2092061896 |
245 | D>missing | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2122678582 RCV001914228 |
247 | L>H | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1286975157 RCV000809792 |
248 | F>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2092061524 RCV002035000 |
250 | I>F | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001367376 rs2092061524 |
250 | I>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV002036225 rs553174582 |
251 | N>K | Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 (fcas2) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002263939 RCV000696997 rs200679354 RCV001531304 |
251 | N>S | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001326148 rs2092061160 |
255 | M>T | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2122677940 RCV002250868 |
257 | Q>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000481155 CA9639613 RCV001080546 RCV002263584 rs150280940 |
260 | T>M | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2092060114 RCV001223074 |
268 | I>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000694000 rs752809784 |
272 | W>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1303607100 RCV000548244 CA407415715 |
275 | P>A | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1170408810 RCV001245504 |
277 | A>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001911994 rs2122676644 |
278 | P>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001134177 rs376185824 |
279 | L>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP dbSNP |
|
rs145049569 RCV001042517 RCV003396644 |
280 | Q>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001301928 rs2092058829 |
281 | E>D | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000001663 rs104895564 RCV002262535 RCV000084149 CA115098 |
284 | R>* | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 (fcas2) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002051097 rs537256190 |
284 | R>Q | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs910232490 RCV002046519 |
285 | V>A | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000645639 RCV002263887 CA9639593 rs201940393 RCV003424224 |
286 | P>L | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs752992130 RCV001341490 |
287 | E>K | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2122675887 RCV001913348 |
290 | L>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs147080557 RCV000627080 CA9639583 |
294 | D>E | Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 (fcas2) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001210218 rs774533869 |
295 | G>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776056868 RCV001897282 |
303 | F>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs141245482 CA9639573 RCV000249573 RCV001706385 RCV002262907 RCV000525814 |
304 | H>Y | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs949584865 RCV000585549 CA310070877 RCV001206400 |
306 | P>L | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001906401 rs753109542 |
307 | Q>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1410857959 RCV000817830 |
309 | P>H | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
COSM1646971 RCV000818747 rs1599843277 COSM713851 |
310 | W>* | lung Variant assessed as Somatic; HIGH impact. Familial cold autoinflammatory syndrome 2 [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
rs766680396 RCV001362791 |
315 | E>K | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001887116 rs2122674313 |
317 | K>Q | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000884995 rs140585311 |
318 | R>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001911779 rs1361737454 |
318 | R>Q | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs140585311 RCV001345372 |
318 | R>W | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001241992 rs35401786 |
319 | P>L | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs35401786 RCV001699375 RCV002263583 RCV000967714 CA9639561 |
319 | P>R | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs560825505 RCV001053940 |
320 | T>M | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002262149 RCV003095949 rs2092055408 |
321 | E>A | Autoinflammatory syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM1000892 rs769424856 RCV001055498 COSM4873190 |
321 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium Familial cold autoinflammatory syndrome 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs745451806 RCV001285425 |
322 | L>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002039267 rs1568681230 |
324 | L>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9639550 RCV001200246 RCV002263064 RCV000264278 rs144287432 COSM98087 |
329 | R>Q | upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2092054789 RCV001337231 |
333 | L>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001315929 rs780487558 |
334 | P>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001815479 rs200996095 RCV000802476 |
341 | T>I | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs112159191 RCV001131217 |
343 | R>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000819856 rs112159191 RCV000509371 CA9639538 |
343 | R>W | Periodic fever syndrome Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002264429 rs769279430 RCV001950225 |
351 | H>Y | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001311905 CA9639530 RCV002263840 rs199881207 RCV000627081 |
352 | R>C | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 (fcas2) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003095943 rs1435117815 RCV002262110 |
354 | L>V | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs143855597 CA9639529 RCV000553189 |
355 | E>K | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002262111 rs2122672202 |
359 | H>Y | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001903602 rs376983164 |
364 | G>D | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs541068679 COSM262413 RCV001002527 |
368 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine Familial cold autoinflammatory syndrome 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs2092052099 RCV001053628 |
370 | R>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs764966959 RCV000704313 |
370 | R>K | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000804522 rs1599842537 RCV002252241 |
371 | K>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002050692 rs2122671544 RCV002545641 |
373 | Y>C | Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000704947 rs760166759 |
377 | Y>C | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002264257 rs1006682366 RCV001296105 COSM216475 |
384 | A>V | pancreas Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar Ensembl dbSNP |
|
rs1335953782 RCV001062676 |
386 | Q>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002026155 rs1407939597 |
387 | V>D | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001351991 rs2092050733 |
388 | F>L | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002006058 rs1169092995 |
389 | N>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000704577 rs146245368 |
390 | Y>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001434504 RCV002264050 RCV000478012 rs201241894 CA16620906 |
394 | N>K | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs202133847 RCV001985671 |
395 | E>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs202133847 RCV002023348 |
395 | E>K | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs896692770 RCV001350770 |
396 | P>H | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA9639499 rs34971363 RCV000252320 VAR_053621 RCV000359423 RCV001824715 RCV001001698 RCV002262905 RCV000627082 |
402 | F>L | Familial cold autoinflammatory syndrome FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM5765690 RCV001957490 COSM5765691 rs765948822 |
403 | V>I | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001130491 rs765948822 |
403 | V>L | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM5726795 RCV000627083 rs774895361 COSM5726796 CA407413972 |
408 | W>* | Variant assessed as Somatic; HIGH impact. Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 (fcas2) [NCI-TCGA, ClinVar, Ensembl] | Yes |
NCI-TCGA Cosmic ClinGen ClinVar Ensembl dbSNP |
|
rs1369819341 RCV001064277 |
411 | C>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002581242 rs200296032 |
416 | Q>* | Variant assessed as Somatic; HIGH impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs993565305 RCV000807164 |
422 | G>E | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2092047430 RCV001301845 |
422 | G>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001235317 rs765669036 |
423 | L>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001231235 rs2092047033 |
426 | Q>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001890647 rs1383087110 |
427 | T>K | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001912681 rs768497979 |
432 | T>A | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001130490 rs373446463 RCV002264200 |
439 | L>Q | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000645637 CA9639453 rs371528857 RCV002530019 |
444 | Q>E | Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002262114 RCV003495266 rs773565080 |
447 | P>L | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000084143 CA224930 RCV000689995 rs104895566 |
448 | G>A | Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 (fcas2) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001130489 rs914321661 |
448 | G>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs1016647701 RCV003600411 RCV001531303 |
449 | A>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000645634 rs143640165 CA9639446 |
450 | P>L | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9639443 rs769847348 RCV000645647 |
451 | R>C | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs76085152 RCV002263894 RCV003222079 RCV000645663 CA9639442 |
451 | R>H | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1173800721 RCV000810071 |
452 | L>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV002021058 rs2122666514 |
456 | P>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2092043814 RCV001295405 |
457 | N>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs757979953 RCV001057329 |
458 | Q>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002019143 rs757979953 |
458 | Q>K | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2122666367 RCV001928958 |
459 | R>K | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001879358 rs752139831 |
461 | L>F | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2092043514 RCV001238530 |
463 | S>F | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2122665998 RCV003495267 RCV002262115 |
464 | L>missing | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM4953117 RCV001330391 rs960826983 COSM4953116 |
465 | A>V | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV003311998 rs559396586 RCV001492074 |
468 | G>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs756550237 RCV001243955 |
472 | Q>H | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886054609 CA10649034 RCV000353591 |
474 | I>F | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM4707256 CA407413514 RCV000645645 rs1185856650 COSM4707257 |
482 | R>Q | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2122665361 RCV001944466 |
484 | H>Y | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs745752604 RCV001223635 |
487 | D>H | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
COSM124768 COSM4138260 RCV000823892 rs200795570 |
491 | V>I | upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. pancreas Familial cold autoinflammatory syndrome 2 [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs146903616 RCV001433268 |
499 | I>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA658799304 rs1403147116 RCV000626010 |
502 | K>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs757697839 RCV001993803 |
506 | C>* | Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 (fcas2) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs576700970 RCV000696080 |
508 | R>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2092040588 RCV001130487 |
508 | R>K | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001508873 rs903100692 RCV003495244 |
513 | I>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759658980 RCV002262116 |
513 | I>T | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001751404 RCV001216504 rs770763005 |
516 | S>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001061116 rs746890522 |
517 | F>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002263981 rs1036210460 RCV003222131 RCV000793564 |
523 | A>G | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002555949 rs570169359 RCV001091266 |
524 | M>I | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000687448 rs374537127 |
526 | Y>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002263947 rs781712648 RCV002261191 RCV000701809 |
529 | D>E | Variant assessed as Somatic; MODERATE impact. Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs566324385 RCV001044158 |
531 | G>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs142569357 RCV001056077 |
541 | V>M | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1031564464 RCV001311904 RCV001871784 |
543 | R>M | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2092037334 RCV001040618 |
546 | T>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs760475376 RCV000816411 |
547 | E>Q | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001314088 rs773087721 |
548 | Y>C | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs761571455 RCV002561419 COSM4873671 RCV001943960 COSM1000888 |
549 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001922817 rs2122662116 |
551 | S>A | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001977096 rs779482271 |
558 | L>F | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs747435135 RCV000997004 RCV002549957 |
561 | R>C | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs747435135 RCV001966010 |
561 | R>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2122661467 RCV002262118 |
562 | F>C | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1235884586 RCV001326506 |
565 | G>E | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001936616 rs758740079 |
568 | N>K | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs753099958 RCV000687765 COSM4452233 COSM4452234 |
569 | E>K | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000778140 rs1568677542 |
580 | C>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805940 rs1273259606 |
580 | C>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001900196 rs774065257 |
580 | C>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001993851 rs774065257 |
580 | C>Y | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001982670 rs569593868 |
581 | W>* | Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 (fcas2) [ClinVar, Ensembl] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762543085 RCV001989278 |
581 | W>C | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1568677341 RCV001231868 |
585 | P>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs569411184 RCV002262119 RCV002466751 |
585 | P>L | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002262120 rs772704000 |
586 | H>N | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001225870 rs2092033365 |
586 | H>Y | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001287318 rs772704000 |
586 | H>Y | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs953567955 RCV001350719 |
594 | W>* | Variant assessed as Somatic; HIGH impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001222826 COSM3538451 rs748314396 RCV002264232 COSM3538452 |
597 | S>N | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs775762941 RCV000813457 |
603 | G>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001245271 rs756202611 |
603 | G>C | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000905110 rs370229918 RCV002264076 |
607 | Q>P | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs370229918 RCV002262122 |
607 | Q>R | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001918596 rs763836095 |
611 | L>F | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002252565 RCV003094155 rs2122658928 RCV003408185 |
612 | E>K | Familial cold autoinflammatory syndrome 2 NLRP12-related condition [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1179439001 RCV000645642 CA407412333 |
617 | L>F | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs142487599 CA9639334 RCV002263820 RCV003392443 RCV000685974 RCV000729728 |
618 | Y>* | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 NLRP12-related condition [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001315754 COSM3538447 rs139082917 COSM3538448 RCV003166806 |
619 | E>K | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001241349 COSM3893335 rs2092030387 COSM3893334 |
623 | E>K | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
rs746405537 RCV001038604 |
624 | E>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062700 rs2092030072 |
626 | I>M | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001091265 RCV000552406 CA9639325 rs146250162 |
629 | A>D | Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 (fcas2) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002267211 rs2122657897 |
631 | S>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs916557452 RCV001307992 |
632 | H>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001001042 rs1600706886 |
632 | H>Y | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002028962 rs763997556 |
633 | F>C | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1254553227 RCV001365607 |
637 | V>L | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000791463 rs1254553227 |
637 | V>M | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001207389 rs1310368043 |
645 | M>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001929205 rs2092028098 |
648 | M>I | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs769279292 RCV002262123 |
650 | S>P | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs781361326 RCV001269323 |
651 | S>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001135553 rs370478544 |
651 | S>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM5056912 RCV001235066 COSM1217447 rs1183145840 |
656 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine Familial cold autoinflammatory syndrome 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs2092026599 RCV002025385 |
661 | Q>H | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA9639300 RCV000645638 rs201726924 |
661 | Q>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA407411709 RCV000645640 rs1555795695 |
664 | H>Y | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002263062 CA9639299 rs766112183 RCV000645644 |
666 | Y>H | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002022463 RCV003312035 rs1307240172 |
668 | A>T | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs551922611 RCV001883054 |
669 | T>A | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs781329641 RCV001068823 |
671 | S>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV003495269 RCV002262124 COSM3404550 rs376751517 COSM3404551 |
672 | A>V | Variant assessed as Somatic; MODERATE impact. central_nervous_system Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM251055 rs139937024 RCV000796037 |
674 | G>W | liver Familial cold autoinflammatory syndrome 2 [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1204554159 RCV002262125 |
678 | A>S | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1204554159 RCV001894551 |
678 | A>T | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2092024786 RCV001344451 |
679 | R>W | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001370016 rs777774690 |
680 | C>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001208091 rs771927948 |
681 | S>Y | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000402772 RCV001091264 COSM713857 CA9639283 rs778688033 COSM1646977 |
682 | A>T | lung Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003243368 rs145989421 RCV001483761 |
683 | G>R | Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001855947 rs753678830 RCV000762035 |
684 | A>E | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001340646 rs753678830 |
684 | A>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs374387350 RCV001870441 |
685 | H>Q | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000818720 rs756690369 |
686 | T>M | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs756690369 RCV001347776 |
686 | T>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000687034 rs760012636 |
691 | L>P | Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 (fcas2) [ClinVar, Ensembl] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1283877231 RCV001232273 |
693 | E>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
COSM78175 rs2091983142 RCV002262127 |
702 | S>G | ovary large_intestine Autoinflammatory syndrome [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV001039236 rs945063133 |
702 | S>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1380366925 RCV001981263 |
704 | H>Y | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV002558292 rs202169378 RCV001200245 RCV001135552 |
707 | A>V | Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001921793 rs2122636258 |
708 | A>D | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001938658 RCV002557772 rs138187543 |
712 | N>S | Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001936354 rs2122635998 |
714 | N>D | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs150848917 RCV000645668 RCV000312521 CA9639213 RCV002263061 RCV001701854 |
714 | N>S | Familial cold autoinflammatory syndrome Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002263938 RCV000696938 rs201439784 |
716 | I>T | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001213076 rs2091981992 |
716 | I>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000997002 rs750852187 RCV003769360 |
722 | R>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000407799 rs199475868 CA9639204 RCV002263060 COSM177780 |
722 | R>Q | large_intestine Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000689619 rs201136106 |
724 | A>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001306158 rs764354581 |
728 | R>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs373285006 CA9639199 RCV000807944 RCV000513470 |
728 | R>Q | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs764354581 COSM1259206 RCV001091263 RCV001134053 |
728 | R>W | oesophagus Familial cold autoinflammatory syndrome 2 [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001134052 RCV001046121 rs139938997 |
729 | G>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000702840 rs139938997 |
729 | G>W | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs771632319 RCV002264426 RCV001945128 |
730 | V>missing | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1600700389 RCV002264138 RCV000997001 |
730 | V>missing | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776527127 RCV001043606 |
730 | V>L | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002561788 RCV001212460 rs1341283051 |
732 | L>R | Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs554602951 CA9639189 RCV002263889 RCV000645651 |
736 | G>R | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000806104 rs560050058 |
738 | R>I | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs770328920 RCV001047179 |
740 | P>L | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002264101 RCV000932105 rs548804330 |
741 | N>S | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9639181 RCV001002024 RCV002263892 rs74373537 |
743 | K>Q | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002264055 rs148745997 RCV000892927 |
753 | R>H | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003600425 RCV002262129 rs148745997 |
753 | R>L | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs202007906 RCV001936977 |
760 | E>K | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs762644457 RCV001998418 |
761 | D>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752188739 RCV000819712 |
762 | L>F | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752188739 RCV001338318 |
762 | L>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001975504 rs764833458 |
763 | S>A | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000893516 CA9639120 rs138493915 |
770 | K>T | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2122610100 RCV001957287 |
777 | L>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM4872806 RCV000792033 COSM4872807 COSM1000885 rs376676387 |
781 | G>S | Variant assessed as Somatic; MODERATE impact. endometrium Familial cold autoinflammatory syndrome 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001965668 rs777591981 |
782 | V>A | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001320714 rs768447330 |
787 | M>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752414417 RCV002543740 RCV001318004 RCV003328672 |
788 | M>R | Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768192429 RCV001052146 |
792 | E>D | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP |
|
rs753391798 RCV001321765 |
792 | E>Q | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003394060 RCV001454648 rs373954247 RCV002264331 |
795 | R>Q | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome NLRP12-related condition [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002264245 COSM192949 rs762384329 RCV001239315 |
795 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs539741111 RCV000907052 |
796 | H>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002262130 rs2122608585 |
796 | H>Y | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs922832985 RCV001303126 |
800 | R>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001903604 rs2122608123 |
802 | Q>H | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA10643177 RCV000346372 rs886054607 |
813 | S>F | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000814873 RCV001938877 rs149903344 RCV002264009 |
814 | G>R | Variant assessed as Somatic; MODERATE impact. Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1435753276 RCV001371468 |
815 | A>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002262132 rs755657075 |
817 | Q>L | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001905015 COSM5957195 COSM5957196 COSM5957194 rs758809508 |
820 | A>T | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000691541 rs762058684 |
820 | A>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2122593596 RCV002262133 |
822 | V>M | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2091916523 RCV001249342 |
823 | L>PC | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002262134 rs372647059 |
824 | G>S | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs749913514 RCV003151871 RCV001924280 |
827 | P>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs926941594 RCV001959397 |
827 | P>A | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000266314 CA10649025 rs886054606 |
831 | E>D | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139956424 CA9639054 RCV002263058 RCV000379617 RCV002521246 |
833 | D>E | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001316259 rs1212091388 |
834 | L>M | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002006955 rs768588697 |
838 | A>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001864291 rs2122592653 |
842 | L>F | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001932748 rs1325684119 |
850 | G>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001531912 RCV002264007 RCV000813359 rs766678083 |
858 | L>I | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002263056 RCV001000500 rs79884502 CA9639037 |
859 | R>Q | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000823537 RCV001548731 CA9639038 rs573629753 RCV002263057 RCV002521245 |
859 | R>W | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs150671525 RCV002263055 RCV000969327 RCV002274984 CA9639036 |
860 | T>S | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002023885 rs1568662444 |
862 | W>C | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001858851 RCV003259027 RCV000997000 rs149373778 RCV002264137 |
867 | R>C | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs140731275 CA9638979 RCV000917356 |
867 | R>H | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001285294 rs1600683649 |
868 | L>F | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001046123 rs2091868280 |
869 | T>I | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001319186 rs1008086271 |
873 | C>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002038893 rs2091867770 |
875 | E>D | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs376225539 COSM3538423 COSM4897515 RCV001054641 COSM3538422 |
875 | E>K | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000645643 CA508773780 rs1342078475 |
880 | L>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001246432 rs760285772 |
885 | S>N | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP |
|
rs2091866608 RCV002043848 |
887 | R>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2091866608 RCV001968679 |
888 | E>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs534132036 RCV001904849 |
889 | L>Q | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001867212 rs2122563335 |
890 | D>E | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000967713 rs138514430 |
898 | D>Y | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002262682 rs104895568 RCV000084146 CA224934 RCV000253848 RCV001084871 |
901 | V>L | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001884174 rs200511925 |
907 | G>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2122562229 RCV002023475 |
913 | C>W | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA9638943 rs760120881 RCV000482726 RCV000686338 |
917 | T>I | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9638942 rs777228735 RCV001070983 |
918 | L>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001135431 rs201596732 |
919 | R>Q | Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 (fcas2) [ClinVar, Ensembl] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002263053 rs61741349 CA9638940 RCV000625042 |
919 | R>W | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001531911 rs199980950 RCV000820013 |
921 | G>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001366873 rs767041308 |
922 | I>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001726342 rs570948263 COSM220213 RCV000823888 |
924 | R>Q | haematopoietic_and_lymphoid_tissue Familial cold autoinflammatory syndrome 2 [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs761231693 RCV001345132 |
924 | R>W | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs146368839 RCV001133930 |
929 | A>T | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs769829992 RCV001039789 |
930 | C>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001338210 rs761789218 |
930 | C>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000688078 rs1404302953 |
931 | E>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV003258768 RCV000347730 CA9638897 rs566677129 |
931 | E>G | Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002008967 rs2122532843 |
933 | L>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002023223 rs1379257772 |
934 | S>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001870201 rs2122532604 |
939 | A>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001978404 rs753465728 |
940 | N>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1220727074 RCV001133929 RCV003413942 |
942 | N>S | Familial cold autoinflammatory syndrome 2 NLRP12-related condition [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs533054990 RCV001778922 RCV000407434 RCV002057526 CA9638890 |
944 | R>missing | Multisystem inflammatory syndrome in children Familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA9638888 rs200742741 RCV000342336 |
944 | R>Q | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003258958 RCV002263961 RCV001047694 rs104895570 RCV003311884 RCV000736056 |
944 | R>W | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs376516191 RCV000823754 |
951 | N>K | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000816515 RCV002264014 COSM141584 rs140792345 COSM3423118 |
952 | D>N | upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. large_intestine Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs149951954 RCV001968269 |
957 | G>S | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001782530 rs745881796 |
960 | L>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs139165669 RCV003095948 RCV002262138 |
963 | E>K | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002041181 rs2091805877 |
966 | Q>H | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs754537076 RCV002264412 RCV001889735 |
969 | A>P | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM4081077 RCV001370600 COSM4081076 rs754537076 |
969 | A>T | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs753280591 RCV000798204 |
971 | R>G | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs764265930 RCV001217973 |
976 | W>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040459 rs560028610 RCV002551472 |
978 | D>H | Familial cold autoinflammatory syndrome 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs369502542 RCV000807340 |
987 | C>Y | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002264282 rs151187420 RCV001364998 |
989 | N>T | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002264000 rs769476370 RCV000808498 |
994 | L>P | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001295816 rs2091750503 |
997 | N>missing | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2091750724 RCV001237763 |
997 | N>I | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1334288624 RCV001899751 |
997 | N>K | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001316055 rs770386298 |
998 | Q>K | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001476446 rs201437704 RCV000762032 |
1000 | L>F | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001130973 rs1219838859 |
1000 | L>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs144746100 RCV000645667 CA9638803 RCV002263897 |
1002 | D>N | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001295803 rs2091749130 |
1009 | A>* | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1256306834 RCV002262140 |
1009 | A>S | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1400666519 RCV001306641 |
1012 | D>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA407407453 rs538392013 RCV000549488 |
1013 | T>K | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001778921 RCV001080137 rs35064500 RCV000645655 RCV002263050 CA9638793 |
1016 | R>* | Multisystem inflammatory syndrome in children Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001947616 rs2091748199 |
1018 | L>F | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001912562 COSM1481458 COSM4814458 rs769192403 |
1021 | R>Q | Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1568654178 RCV003769359 RCV000996999 |
1022 | L>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001216562 rs201619538 |
1030 | R>* | Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 (fcas2) [ClinVar, Ensembl] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9638781 RCV000967625 RCV002263049 rs201619538 RCV001764298 |
1030 | R>G | Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 (fcas2) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001307227 rs751680149 |
1030 | R>Q | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2122504184 RCV002262141 |
1031 | V>D | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2091747039 RCV002262142 |
1032 | L>P | Autoinflammatory syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001951769 rs1348599488 |
1033 | W>C | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
gnomAD ClinVar dbSNP |
|
RCV002044288 rs2122482565 |
1036 | G>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs754830337 RCV000686015 |
1037 | M>V | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002025077 rs1041427916 |
1042 | M>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001940947 rs1009978100 |
1043 | T>A | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002537509 RCV003396447 rs143874173 RCV000821660 |
1043 | T>I | Familial cold autoinflammatory syndrome 2 Inborn genetic diseases NLRP12-related condition [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002008169 rs1280682130 |
1045 | S>R | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001980265 rs934460879 |
1046 | R>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
CA9638750 RCV000275801 RCV002263048 rs146786265 |
1049 | A>V | Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1293965801 RCV000819885 |
1050 | L>F | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
COSM2928942 RCV001853843 COSM2928941 rs199475871 CA9638748 COSM4081072 RCV000579088 |
1051 | R>* | Variant assessed as Somatic; HIGH impact. Familial cold autoinflammatory syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs777108086 CA9638746 RCV000370362 |
1051 | R>P | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777108086 RCV000812800 COSM1396137 |
1051 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine Familial cold autoinflammatory syndrome 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001956776 rs1451264761 |
1054 | K>E | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV003333213 RCV002261623 rs1690166860 |
1058 | D>E | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001061190 rs1345613811 |
1061 | C>G | Familial cold autoinflammatory syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
| rs753733591 | 3 | R>P | No |
ExAC TOPMed gnomAD |
|
|
COSM5390644 rs753733591 COSM5390643 |
3 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs1599879740 RCV000788878 |
4 | T>I | No |
ClinVar Ensembl dbSNP |
|
| rs2092309334 | 4 | T>P | No | TOPMed | |
| TCGA novel | 6 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1329305719 | 6 | G>V | No | gnomAD | |
| rs2092309163 | 7 | R>K | No | gnomAD | |
| rs1224418206 | 11 | C>R | No | gnomAD | |
| rs1456282178 | 11 | C>Y | No |
TOPMed gnomAD |
|
| rs376754003 | 12 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs374428779 | 13 | L>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs1477918463 | 15 | T>A | No | TOPMed | |
| rs567202893 | 15 | T>N | No |
1000Genomes ExAC gnomAD |
|
| rs567202893 | 15 | T>S | No |
1000Genomes ExAC gnomAD |
|
| rs370727158 | 16 | Y>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1172374320 | 16 | Y>H | No | Ensembl | |
| rs1172374320 | 16 | Y>N | No | Ensembl | |
| rs753983333 | 17 | L>V | No |
ExAC gnomAD |
|
| rs780038944 | 18 | E>K | No | ExAC | |
|
rs756088099 COSM1000903 COSM4869078 |
19 | E>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs2092308397 | 21 | E>A | No | gnomAD | |
|
COSM1741278 COSM1741279 rs767372759 |
21 | E>K | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs767372759 | 21 | E>Q | No |
ExAC TOPMed gnomAD |
|
|
TCGA novel rs2092308363 |
22 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs78695305 | 24 | E>A | No | Ensembl | |
| rs78695305 | 24 | E>G | No | Ensembl | |
| rs2092308239 | 25 | L>P | No |
TOPMed gnomAD |
|
| rs2092308161 | 27 | K>M | No | gnomAD | |
| rs1170266442 | 27 | K>N | No | gnomAD | |
| rs1429588177 | 29 | K>E | No | gnomAD | |
|
COSM3538496 COSM3538495 |
30 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764783771 | 31 | Y>H | No |
ExAC gnomAD |
|
| TCGA novel | 33 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4081102 COSM4081101 |
33 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1241288720 | 34 | T>N | No | gnomAD | |
| rs1049564338 | 36 | T>R | No |
TOPMed gnomAD |
|
| rs1285434653 | 37 | E>K | No | gnomAD | |
| rs1212737270 | 38 | L>M | No | gnomAD | |
| rs1212737270 | 38 | L>V | No | gnomAD | |
| rs34436714 | 39 | G>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs756104068 | 41 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs2092307614 | 41 | G>D | No | Ensembl | |
| rs1334033473 | 43 | I>F | No |
TOPMed gnomAD |
|
| rs1468866743 | 43 | I>N | No | gnomAD | |
| rs866895578 | 45 | W>* | No | Ensembl | |
| rs866895578 | 45 | W>C | No | Ensembl | |
|
COSM3538492 COSM3538491 |
46 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2122812374 | 47 | S>R | No | Ensembl | |
| rs2122812349 | 48 | M>K | No | Ensembl | |
| rs1463728188 | 49 | E>* | No | gnomAD | |
| rs1463728188 | 49 | E>K | No | gnomAD | |
| rs2092307300 | 51 | A>V | No | Ensembl | |
| rs369053968 | 52 | G>R | Familial cold autoinflammatory syndrome 2 (fcas2) [Ensembl] | No |
ESP ExAC TOPMed gnomAD |
|
COSM3538490 COSM3538489 |
53 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 56 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1568704887 | 57 | A>S | No | gnomAD | |
| rs1568704887 | 57 | A>T | No | gnomAD | |
| rs1723166205 | 59 | L>M | No | TOPMed | |
| rs767974556 | 62 | T>I | No |
ExAC gnomAD |
|
| rs2092306920 | 63 | H>R | No | Ensembl | |
|
rs762313275 COSM1712756 COSM1712755 |
63 | H>Y | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs145729590 | 64 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs376902606 | 65 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1453971407 | 67 | E>K | No | gnomAD | |
| rs1453971407 | 67 | E>Q | No | gnomAD | |
| rs749538598 | 68 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs367549186 | 70 | W>G | No |
ESP ExAC gnomAD |
|
| rs746886074 | 73 | A>V | No | ExAC | |
| rs2092306393 | 74 | L>P | No | Ensembl | |
| rs2092306421 | 74 | L>V | No | Ensembl | |
|
COSM4901713 COSM4901714 |
76 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1162916454 | 77 | F>S | No | gnomAD | |
| rs1411288372 | 77 | F>V | No |
TOPMed gnomAD |
|
|
rs777735292 COSM3404563 COSM3404562 |
79 | R>W | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs867524375 | 82 | R>S | No | Ensembl | |
| rs1179506251 | 84 | D>E | No |
TOPMed gnomAD |
|
| TCGA novel | 85 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1218124674 | 88 | R>G | No | gnomAD | |
| rs1206814114 | 88 | R>K | No |
TOPMed gnomAD |
|
| rs1206814114 | 88 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs753292620 | 89 | G>* | No |
ExAC TOPMed gnomAD |
|
| rs549438462 | 90 | Q>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs549438462 | 90 | Q>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1247393704 | 90 | Q>H | No | gnomAD | |
| rs1248752308 | 92 | E>G | No |
TOPMed gnomAD |
|
| rs1362190303 | 92 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs764551921 | 94 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs763354608 | 95 | V>M | No |
ExAC gnomAD |
|
| rs1225447416 | 97 | D>A | No | gnomAD | |
| rs1225447416 | 97 | D>G | No | gnomAD | |
| rs769979504 | 97 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs769979504 | 97 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs1271514228 | 99 | P>Q | No |
TOPMed gnomAD |
|
| rs200813801 | 100 | P>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200813801 | 100 | P>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2092134867 | 101 | G>A | No | TOPMed | |
|
COSM3538485 COSM3538486 |
103 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs369508681 | 104 | S>Y | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM4817083 COSM4817082 |
105 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs755411263 | 108 | N>K | No | ExAC | |
| rs1347211586 | 110 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1373495227 | 111 | T>A | No |
TOPMed gnomAD |
|
| rs754131900 | 113 | L>F | No |
ExAC gnomAD |
|
|
rs754131900 RCV000997005 |
113 | L>V | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1381639772 | 114 | L>P | No | gnomAD | |
| rs1381639772 | 114 | L>Q | No | gnomAD | |
|
COSM2929132 COSM2929133 |
115 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1362591220 | 116 | V>F | No | gnomAD | |
| rs2092134189 | 117 | S>C | No | gnomAD | |
| rs766766491 | 118 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs2092134025 | 118 | L>P | No | gnomAD | |
| rs766766491 | 118 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1434080724 | 119 | V>L | No |
TOPMed gnomAD |
|
| rs1274151548 | 120 | T>N | No |
TOPMed gnomAD |
|
|
rs760912202 CA9639758 RCV000520197 |
120 | T>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs773438934 | 121 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs773438934 | 121 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1422013944 | 121 | P>S | No | gnomAD | |
| rs767654625 | 122 | R>K | No |
ExAC gnomAD |
|
| rs761684667 | 122 | R>S | No |
ExAC gnomAD |
|
| rs377272907 | 124 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 124 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM6085855 COSM1649497 COSM567538 rs2092072042 COSM6085854 |
125 | P>R | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic TOPMed |
|
COSM2929128 COSM2929129 |
125 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs746589911 | 125 | P>T | No |
ExAC gnomAD |
|
| rs377242049 | 126 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM75613 COSM3538484 |
127 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1352321453 | 128 | T>I | No |
TOPMed gnomAD |
|
| rs1392155193 | 129 | Y>C | No | gnomAD | |
| rs1328458012 | 129 | Y>N | No | gnomAD | |
| rs780595959 | 130 | R>K | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2092071617 | 130 | R>S | No | Ensembl | |
| rs780595959 | 130 | R>T | No |
ExAC TOPMed gnomAD |
|
| rs372660692 | 131 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1321820197 | 131 | D>V | No | TOPMed | |
| rs2092071157 | 132 | Y>* | No | Ensembl | |
|
rs2092071303 COSM3423123 COSM3423124 |
134 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs2092071303 | 134 | R>P | No | TOPMed | |
| rs2092071264 | 135 | R>G | No | TOPMed | |
| TCGA novel | 135 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs868553934 | 135 | R>S | No | gnomAD | |
| rs1180696887 | 136 | K>N | No | gnomAD | |
| rs151127355 | 136 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1438042635 | 137 | F>L | No |
TOPMed gnomAD |
|
| rs142971951 | 138 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs534882841 | 138 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs534882841 | 138 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 139 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1292447454 | 139 | L>V | No | gnomAD | |
| rs2092070669 | 140 | M>L | No |
TOPMed gnomAD |
|
|
COSM1000901 COSM4865936 |
141 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1348689699 | 141 | E>Q | No | gnomAD | |
| rs1240107482 | 142 | D>A | No | gnomAD | |
| rs34330210 | 142 | D>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs770685725 | 143 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs760185291 | 143 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs770685725 | 143 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs771441641 | 144 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs771441641 | 144 | N>H | No |
ExAC TOPMed gnomAD |
|
|
COSM3971223 COSM3971222 |
144 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780751328 | 145 | A>E | No |
ExAC gnomAD |
|
| rs780751328 | 145 | A>G | No |
ExAC gnomAD |
|
|
COSM1663080 COSM1663081 |
145 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2092070139 | 145 | A>S | No | TOPMed | |
| rs200736514 | 146 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs781341758 COSM283278 COSM2151837 |
146 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs781341758 COSM317696 |
146 | R>L | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs200736514 | 146 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 148 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1157468713 | 149 | E>* | No |
TOPMed gnomAD |
|
| rs1157468713 | 149 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2092069475 | 150 | C>F | No | TOPMed | |
| rs746324074 | 150 | C>R | No |
TOPMed gnomAD |
|
| rs1413719093 | 150 | C>W | No | gnomAD | |
| rs758516871 | 151 | V>D | No |
ExAC gnomAD |
|
| rs1599845088 | 152 | N>T | No | Ensembl | |
| rs2092068982 | 153 | L>P | No | TOPMed | |
|
COSM1646969 COSM713849 |
154 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2092068939 | 155 | H>Y | No | gnomAD | |
| rs753636285 | 156 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs2092068634 | 157 | Y>N | No | Ensembl | |
| rs760404956 | 158 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs772779207 | 159 | R>G | No |
ExAC TOPMed gnomAD |
|
|
rs1346585060 COSM3404558 COSM3404559 |
159 | R>Q | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs772779207 | 159 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1190785201 | 161 | L>P | No | Ensembl | |
| rs2092068289 | 163 | V>L | No | TOPMed | |
| TCGA novel | 164 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 165 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771730004 | 165 | E>K | No |
ExAC gnomAD |
|
| rs761463256 | 166 | H>N | No |
ExAC gnomAD |
|
| rs1391725053 | 166 | H>R | No | TOPMed | |
|
COSM3538482 COSM3538483 |
169 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs773990913 | 170 | M>V | No |
ExAC gnomAD |
|
| rs1400811740 | 171 | Q>K | No | gnomAD | |
| rs2122682239 | 172 | V>A | No | Ensembl | |
| rs2092067820 | 174 | Q>H | No | Ensembl | |
| rs2092067873 | 174 | Q>R | No | Ensembl | |
| rs746321717 | 175 | Q>* | No |
ExAC gnomAD |
|
| TCGA novel | 180 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1241323756 | 181 | R>Q | No |
TOPMed gnomAD |
|
| rs532161293 | 182 | G>A | No |
1000Genomes ExAC TOPMed |
|
| rs532161293 | 182 | G>E | No |
1000Genomes ExAC TOPMed |
|
| rs1324521711 | 182 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs753676711 | 183 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs2092066775 | 184 | A>E | No | TOPMed | |
| rs1167870562 | 185 | R>K | No | gnomAD | |
|
COSM361991 COSM3893352 |
188 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761487177 | 189 | H>Q | No |
ExAC gnomAD |
|
| rs1366786482 | 189 | H>Y | No | gnomAD | |
| rs1568682856 | 190 | Q>P | No | gnomAD | |
| rs2092066216 | 191 | A>P | No | gnomAD | |
| rs2092066216 | 191 | A>S | No | gnomAD | |
| rs774008748 | 192 | S>N | No |
ExAC gnomAD |
|
| rs763650831 | 193 | P>L | No |
ExAC gnomAD |
|
| rs763650831 | 193 | P>R | No |
ExAC gnomAD |
|
|
COSM6085857 COSM6085856 |
193 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs929267078 | 195 | K>E | No |
TOPMed gnomAD |
|
| COSM262414 | 195 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs199829926 | 198 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs199829926 | 198 | T>S | No |
ExAC TOPMed gnomAD |
|
|
COSM6085859 COSM6085858 |
201 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1419533334 | 202 | P>A | No |
TOPMed gnomAD |
|
| rs34854934 | 203 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs773623667 | 203 | D>V | No |
ExAC gnomAD |
|
| rs1239462445 | 204 | E>A | No | gnomAD | |
| rs778993927 | 205 | E>* | No |
ExAC gnomAD |
|
| rs111754022 | 206 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs139461508 | 206 | R>L | Familial cold autoinflammatory syndrome 2 (fcas2) [Ensembl] | No |
ESP ExAC TOPMed gnomAD |
| rs767360169 | 207 | P>H | No |
ExAC gnomAD |
|
|
COSM713850 COSM1646970 |
207 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 209 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 209 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM6085860 COSM6085861 |
210 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1175740378 | 213 | V>A | No | gnomAD | |
| rs762132235 | 213 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs575151340 | 214 | V>F | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 214 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749390333 | 215 | M>I | No |
ExAC gnomAD |
|
|
rs780112328 COSM1217453 |
218 | A>T | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs757161509 | 220 | G>E | No |
ExAC TOPMed gnomAD |
|
|
rs781166780 RCV001799831 |
220 | G>R | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1288515851 | 221 | I>L | No |
TOPMed gnomAD |
|
| rs1411462382 | 221 | I>M | No | gnomAD | |
| rs866578661 | 221 | I>T | No | Ensembl | |
| rs1363429330 | 222 | G>S | No |
TOPMed gnomAD |
|
| rs1351752665 | 223 | K>* | No | gnomAD | |
| rs1400127661 | 224 | S>C | No | gnomAD | |
| rs1400127661 | 224 | S>F | No | gnomAD | |
| rs1156993113 | 224 | S>P | No | gnomAD | |
| rs1165065541 | 225 | M>I | No | TOPMed | |
| rs1184557620 | 227 | A>T | No | gnomAD | |
| TCGA novel | 228 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs897917849 | 228 | H>Y | No | gnomAD | |
| rs1599844220 | 230 | V>G | No | Ensembl | |
| rs2092062927 | 231 | M>R | No | Ensembl | |
| rs942175995 | 233 | D>G | No | Ensembl | |
| rs368152701 | 234 | W>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs368152701 | 234 | W>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs141779249 | 235 | A>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs141779249 | 235 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs2092062726 | 235 | A>T | No | Ensembl | |
| rs763174047 | 236 | D>G | No |
ExAC gnomAD |
|
|
rs745906989 COSM1712754 COSM1712753 |
237 | G>E | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs373956169 | 237 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2092062141 | 238 | K>N | No | Ensembl | |
| rs200820147 | 238 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs770982720 | 239 | L>F | No |
ExAC gnomAD |
|
| rs1229049368 | 239 | L>P | No |
TOPMed gnomAD |
|
| TCGA novel | 240 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1849892174 | 241 | Q>H | No | TOPMed | |
| rs2092061954 | 243 | R>G | No | TOPMed | |
|
COSM4864078 COSM1000898 |
243 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs538616124 | 246 | Y>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs949625426 | 247 | L>F | No | TOPMed | |
| TCGA novel | 247 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs949625426 | 247 | L>V | No | TOPMed | |
| rs1286975157 | 248 | F>L | No | gnomAD | |
| rs916881700 | 250 | I>N | No | Ensembl | |
| rs2092061267 | 252 | C>F | No |
TOPMed gnomAD |
|
| TCGA novel | 252 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2122678141 | 253 | R>W | No | Ensembl | |
| rs370831994 | 254 | E>* | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 255 | M>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2092061160 | 255 | M>R | No | Ensembl | |
|
rs867156890 RCV001764797 |
256 | N>T | No |
ClinVar Ensembl dbSNP |
|
| rs1177620093 | 257 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM3538476 COSM3538477 |
258 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs150280940 | 260 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1055121604 | 261 | E>* | No | TOPMed | |
| rs2092060584 | 261 | E>D | No | Ensembl | |
| rs762240454 | 262 | C>S | No |
ExAC gnomAD |
|
| rs1320950736 | 264 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2092060399 | 264 | M>L | No | Ensembl | |
| rs1210279950 | 264 | M>T | No | gnomAD | |
|
COSM4864654 COSM1000897 |
266 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1568681939 | 267 | L>F | No | TOPMed | |
| rs1568681939 | 267 | L>V | No | TOPMed | |
| rs2092060052 | 268 | I>T | No | TOPMed | |
| rs2092059862 | 269 | F>L | No | Ensembl | |
| rs2122677234 | 269 | F>S | No | Ensembl | |
| rs2122677174 | 270 | S>G | No | Ensembl | |
| rs1381551154 | 271 | C>G | No |
TOPMed gnomAD |
|
| rs1381551154 | 271 | C>R | No |
TOPMed gnomAD |
|
| rs142043247 | 272 | W>* | No |
ESP ExAC gnomAD |
|
| rs775823689 | 272 | W>R | No | ExAC | |
| rs776846366 | 273 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs2092059407 | 274 | E>G | No | Ensembl | |
| TCGA novel | 276 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773166510 COSM5549360 COSM5549361 |
277 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs778682173 | 278 | P>H | No |
ExAC gnomAD |
|
| rs778682173 | 278 | P>L | No |
ExAC gnomAD |
|
| rs376185824 | 279 | L>F | No | ESP | |
| rs145049569 | 280 | Q>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs267605659 | 281 | E>K | No | Ensembl | |
| rs1342636343 | 282 | L>P | No | TOPMed | |
| rs1242177727 | 282 | L>V | No | gnomAD | |
| rs752020239 | 286 | P>S | No |
ExAC gnomAD |
|
| rs759770066 | 288 | R>C | No |
ExAC TOPMed gnomAD |
|
|
COSM2156009 rs776866944 COSM1481461 |
288 | R>H | Variant assessed as Somatic; MODERATE impact. central_nervous_system stomach breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs759770066 | 288 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1394869371 | 289 | L>V | No |
TOPMed gnomAD |
|
| rs760728355 | 291 | F>C | No |
ExAC TOPMed gnomAD |
|
| rs760728355 | 291 | F>S | No |
ExAC TOPMed gnomAD |
|
| rs1599843500 | 292 | I>F | No | Ensembl | |
| rs773249090 | 293 | I>T | No |
ExAC TOPMed gnomAD |
|
|
COSM1000894 COSM4866525 |
294 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001763092 rs768310610 |
295 | G>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs201151611 | 296 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
| rs2122675378 | 297 | D>E | No | Ensembl | |
| TCGA novel | 297 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425177132 COSM257532 |
297 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs779570312 | 298 | E>K | No |
ExAC gnomAD |
|
| rs1293984599 | 299 | L>F | No | gnomAD | |
| rs2092057370 | 299 | L>R | No | TOPMed | |
|
rs2092057183 COSM3538473 COSM3538474 |
301 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs755658801 | 301 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs2092057035 | 302 | S>C | No | TOPMed | |
| rs1345607831 | 302 | S>P | No | Ensembl | |
| rs758827302 | 305 | D>N | No |
ExAC gnomAD |
|
| rs2122674876 | 306 | P>A | No | Ensembl | |
|
COSM1712752 COSM1712751 |
306 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM5921515 COSM5921514 |
308 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1306474344 | 308 | G>R | No | gnomAD | |
|
COSM6085862 COSM6085863 |
308 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1410857959 | 309 | P>R | No | gnomAD | |
| rs2092056581 | 309 | P>S | No | Ensembl | |
|
COSM1646971 rs1352661326 COSM713851 |
310 | W>* | lung [Cosmic] | No |
cosmic curated gnomAD |
| rs2092056459 | 310 | W>R | No | Ensembl | |
| rs896724044 | 311 | C>Y | No | Ensembl | |
|
COSM713852 COSM1646972 |
312 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2122674481 | 313 | C>* | No | Ensembl | |
| rs765465986 | 313 | C>G | No |
ExAC gnomAD |
|
| rs552955393 | 314 | W>* | No |
ExAC gnomAD |
|
| rs766680396 | 315 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs766680396 | 315 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1163352660 | 315 | E>V | No | gnomAD | |
|
COSM4867033 COSM1000893 |
316 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3538472 COSM3538471 |
316 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767491310 | 319 | P>S | No |
ExAC gnomAD |
|
| rs1466518481 | 320 | T>A | No | Ensembl | |
|
COSM6152061 COSM6152060 |
320 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2092055408 | 321 | E>G | No | Ensembl | |
|
rs199475864 RCV000089523 CA230336 |
323 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1469357822 | 325 | N>D | No | TOPMed | |
| rs772651421 | 326 | S>R | No |
ExAC gnomAD |
|
|
COSM192951 rs147810259 COSM1712750 |
329 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs868790356 | 332 | L>M | No | gnomAD | |
| rs780487558 | 334 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs756334180 | 335 | E>* | No |
ExAC gnomAD |
|
|
COSM3893347 COSM3893346 |
335 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750525674 | 335 | E>V | No |
ExAC gnomAD |
|
| rs2092054414 | 337 | S>C | No |
TOPMed gnomAD |
|
|
COSM1000891 COSM4863683 |
337 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 338 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761841518 | 339 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs2092054064 | 342 | T>I | No | TOPMed | |
| rs762797155 | 342 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs759054060 | 343 | R>P | No |
ExAC TOPMed gnomAD |
|
|
rs759054060 COSM1712749 COSM1712748 |
343 | R>Q | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
|
COSM3893345 COSM3893344 |
344 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2092053719 | 345 | T>M | No | TOPMed | |
| rs746500082 | 346 | A>S | No |
ExAC gnomAD |
|
| rs1261427103 | 348 | E>* | No | gnomAD | |
| rs779615669 | 348 | E>D | No |
ExAC gnomAD |
|
| rs1452561913 | 350 | L>F | No |
TOPMed gnomAD |
|
| rs1277169591 | 350 | L>R | No | gnomAD | |
| rs2122672464 | 351 | H>Q | No | Ensembl | |
|
COSM1217452 rs1319286947 COSM4081096 |
352 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs199881207 | 352 | R>S | Familial cold autoinflammatory syndrome 2 (fcas2) [Ensembl] | No |
ESP ExAC TOPMed gnomAD |
| rs1435117815 | 354 | L>M | No |
TOPMed gnomAD |
|
|
COSM713853 COSM1646973 |
358 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756377601 | 358 | R>S | No |
ExAC gnomAD |
|
| rs750571572 | 360 | V>E | No |
ExAC gnomAD |
|
| rs2122672112 | 364 | G>R | No | Ensembl | |
|
COSM1526219 rs1466281918 COSM6152062 COSM6152063 |
368 | A>E | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs149542686 | 369 | E>A | No |
ESP ExAC gnomAD |
|
| rs759268847 | 372 | E>D | No |
ExAC gnomAD |
|
|
COSM3893340 COSM3893341 |
372 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2092051954 | 372 | E>Q | No | Ensembl | |
| rs776188840 | 373 | Y>H | No |
ExAC gnomAD |
|
| rs766035651 | 374 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1468211696 | 374 | F>L | No | gnomAD | |
|
rs1555796282 CA407414746 RCV000521822 |
375 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs139174111 | 379 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs866890466 | 379 | H>Y | No | Ensembl | |
| rs1288383264 | 380 | N>H | No | TOPMed | |
| rs749759858 | 380 | N>S | No |
ExAC gnomAD |
|
| rs2122671106 | 382 | E>K | No | Ensembl | |
| rs766977450 | 385 | G>D | No | gnomAD | |
|
rs1259787589 COSM3538466 COSM3538465 |
385 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
|
COSM1286626 rs2092050929 |
386 | Q>* | Variant assessed as Somatic; HIGH impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs770094676 | 388 | F>L | No |
ExAC gnomAD |
|
|
COSM3423122 COSM3423121 rs199512582 |
391 | V>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD |
|
COSM3404552 COSM3404553 rs199512582 |
391 | V>M | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1181564621 | 393 | D>E | No | gnomAD | |
| rs868318822 | 393 | D>H | No | Ensembl | |
| rs868318822 | 393 | D>N | No | Ensembl | |
| TCGA novel | 394 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1473240244 | 394 | N>S | No |
TOPMed gnomAD |
|
| rs896692770 | 396 | P>R | No | Ensembl | |
| rs777772719 | 397 | L>P | No |
ExAC gnomAD |
|
| rs1794029297 | 397 | L>V | No | TOPMed | |
| rs1207888560 | 399 | T>I | No |
TOPMed gnomAD |
|
| rs1207888560 | 399 | T>S | No |
TOPMed gnomAD |
|
| rs2092049568 | 401 | C>S | No | gnomAD | |
| rs199985574 | 402 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs760314848 | 403 | V>D | No |
ExAC TOPMed gnomAD |
|
|
RCV002263189 COSM475223 rs765948822 |
403 | V>F | kidney [Cosmic] | No |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
| rs2092049131 | 405 | L>V | No | TOPMed | |
| rs767092277 | 406 | V>E | No |
ExAC gnomAD |
|
| rs2092049034 | 406 | V>L | No | gnomAD | |
| rs1431546598 | 407 | C>Y | No |
TOPMed gnomAD |
|
| rs370220556 | 408 | W>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs774895361 | 408 | W>L | Familial cold autoinflammatory syndrome 2 (fcas2) [Ensembl] | No | Ensembl |
| rs1164188079 | 409 | V>M | No | gnomAD | |
| rs776187251 | 410 | V>L | No |
ExAC gnomAD |
|
| rs1369819341 | 411 | C>R | No |
TOPMed gnomAD |
|
| rs771071667 | 412 | T>I | No |
ExAC gnomAD |
|
| rs746284170 | 412 | T>P | No |
ExAC gnomAD |
|
| rs771071667 | 412 | T>S | No |
ExAC gnomAD |
|
| rs2092048393 | 413 | C>G | No | Ensembl | |
| rs2092048393 | 413 | C>R | No | Ensembl | |
| rs747186204 | 414 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1387981144 | 415 | Q>R | No |
TOPMed gnomAD |
|
|
rs758518495 COSM1000890 COSM4866153 |
416 | Q>H | endometrium Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated ExAC gnomAD NCI-TCGA Cosmic |
| rs748207201 | 417 | Q>E | No |
ExAC gnomAD |
|
| rs753585777 | 418 | L>R | No |
ExAC gnomAD |
|
|
COSM218598 rs138662652 |
418 | L>V | pancreas [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 419 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs145069196 | 419 | E>G | No |
ExAC gnomAD |
|
| rs1291646132 | 419 | E>Q | No | gnomAD | |
| rs755858986 | 420 | G>A | No |
ExAC gnomAD |
|
| rs1568679968 | 420 | G>S | No | Ensembl | |
| rs767255973 | 421 | G>E | No |
ExAC gnomAD |
|
|
COSM3538463 COSM3538464 |
421 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs571154212 | 421 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 423 | L>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 423 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs776882572 | 425 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs2092047122 | 425 | R>K | No | gnomAD | |
| rs1016545001 | 426 | Q>H | No |
TOPMed gnomAD |
|
|
rs1383087110 COSM4784466 COSM1396144 |
427 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2092046696 | 430 | T>I | No | Ensembl | |
| rs1488544336 | 433 | A>T | No | gnomAD | |
| rs1206499394 | 434 | V>L | No | gnomAD | |
| TCGA novel | 435 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750229826 | 436 | M>K | No |
ExAC gnomAD |
|
| rs756022301 | 436 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs781056025 | 438 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs781056025 | 438 | Y>S | No |
ExAC TOPMed gnomAD |
|
| rs1219702752 | 439 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs763612944 | 440 | L>P | No |
ExAC gnomAD |
|
| rs1322755474 | 441 | S>R | No | gnomAD | |
| rs2092045573 | 442 | L>V | No | Ensembl | |
| rs530600861 | 443 | M>I | No |
1000Genomes ExAC gnomAD |
|
| rs1599841606 | 444 | Q>H | No | Ensembl | |
| rs1445338502 | 445 | P>A | No |
TOPMed gnomAD |
|
| rs1445338502 | 445 | P>T | No |
TOPMed gnomAD |
|
| rs761088844 | 446 | K>Q | No |
ExAC TOPMed gnomAD |
|
| rs2092045182 | 446 | K>R | No | Ensembl | |
| rs1417925433 | 447 | P>A | No |
TOPMed gnomAD |
|
| rs773565080 | 447 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1417925433 | 447 | P>S | No |
TOPMed gnomAD |
|
| rs104895566 | 448 | G>E | Familial cold autoinflammatory syndrome 2 (fcas2) [Ensembl] | No |
ESP ExAC TOPMed gnomAD |
| rs914321661 | 448 | G>W | No | TOPMed | |
| rs1016647701 | 449 | A>D | No | TOPMed | |
| rs1210179524 | 449 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs143640165 | 450 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs756994470 | 454 | P>S | No |
ExAC gnomAD |
|
| rs756994470 | 454 | P>T | No |
ExAC gnomAD |
|
| rs1402019673 | 455 | P>R | No | gnomAD | |
| rs777260817 | 456 | P>S | No |
ExAC TOPMed gnomAD |
|
|
COSM3893338 COSM3893339 |
460 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM6152066 COSM6152067 |
465 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1382096643 | 466 | A>E | No | TOPMed | |
| rs1421675162 | 469 | L>F | No | gnomAD | |
| rs1421675162 | 469 | L>I | No | gnomAD | |
| TCGA novel | 470 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1254976272 | 470 | W>R | No |
TOPMed gnomAD |
|
| rs2092043114 | 470 | W>S | No | TOPMed | |
| rs1324102024 | 472 | Q>* | No |
TOPMed gnomAD |
|
| rs1324102024 | 472 | Q>K | No |
TOPMed gnomAD |
|
| rs370793207 | 474 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM4154344 rs1262724497 COSM4154345 |
475 | L>Q | kidney [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1210847875 | 476 | F>L | No | TOPMed | |
| rs762048744 | 476 | F>S | No |
ExAC TOPMed gnomAD |
|
| rs1400477828 | 477 | E>A | No | gnomAD | |
|
COSM3538461 COSM3538462 |
477 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1400477828 | 477 | E>V | No | gnomAD | |
|
rs2122665606 COSM3538459 COSM3538460 |
478 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs77667763 | 479 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1599841116 | 480 | D>H | No | Ensembl | |
| rs1599841116 | 480 | D>Y | No | Ensembl | |
| rs2122665484 | 481 | L>I | No | Ensembl | |
| rs1340104199 | 481 | L>P | No | gnomAD | |
|
COSM3701547 COSM3701548 rs1484774515 |
482 | R>W | liver [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs573972537 | 483 | K>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM6152069 COSM6152068 |
485 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1268047610 | 485 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs555808644 | 487 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2122665223 | 487 | D>G | No | Ensembl | |
| rs745752604 | 487 | D>N | No |
ExAC gnomAD |
|
| rs368949737 | 488 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2092041749 | 488 | G>V | No | Ensembl | |
| rs368949737 | 488 | G>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1169155457 | 490 | D>Y | No |
TOPMed gnomAD |
|
| rs1343729364 | 492 | S>Y | No | TOPMed | |
|
TCGA novel rs2092041511 |
493 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs747701592 | 496 | N>S | No |
ExAC TOPMed gnomAD |
|
|
COSM3538457 rs1011183165 COSM3538458 |
497 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs778342032 | 497 | M>V | No |
ExAC gnomAD |
|
| rs750966258 | 500 | F>L | No |
ExAC gnomAD |
|
| rs1347986334 | 501 | Q>R | No |
TOPMed gnomAD |
|
| rs2092040990 | 502 | K>E | No | TOPMed | |
| rs2122664550 | 504 | I>M | No | Ensembl | |
| rs2092040892 | 504 | I>N | No | TOPMed | |
| rs757697839 | 506 | C>W | Familial cold autoinflammatory syndrome 2 (fcas2) [Ensembl] | No |
ExAC TOPMed gnomAD |
| rs1372519571 | 507 | E>D | No | gnomAD | |
| rs775734961 | 509 | Y>* | No |
ExAC TOPMed gnomAD |
|
| rs763026467 | 509 | Y>F | No |
ExAC gnomAD |
|
| rs2092040314 | 510 | Y>C | No | gnomAD | |
| rs2092040174 | 511 | S>R | No | TOPMed | |
| rs1288100205 | 511 | S>T | No | gnomAD | |
| rs776759910 | 513 | I>M | No |
ExAC gnomAD |
|
| rs759658980 | 513 | I>N | No |
ExAC gnomAD |
|
| rs2092039924 | 514 | H>P | No | TOPMed | |
| rs2092039753 | 517 | F>V | No |
TOPMed gnomAD |
|
| rs867863500 | 519 | E>K | No | Ensembl | |
| rs772820161 | 520 | F>L | No |
ExAC gnomAD |
|
| rs1265931960 | 521 | F>S | No |
TOPMed gnomAD |
|
| rs1389351409 | 522 | A>S | No | gnomAD | |
| TCGA novel | 523 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1036210460 | 523 | A>V | No | gnomAD | |
| rs1568678378 | 524 | M>V | No | Ensembl | |
| rs940578148 | 525 | Y>* | No | TOPMed | |
| rs747712396 | 525 | Y>S | No |
ExAC gnomAD |
|
| rs2092039026 | 527 | I>T | No | TOPMed | |
| rs757636282 | 530 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs2122663201 | 531 | G>E | No | Ensembl | |
|
TCGA novel rs1599840564 |
533 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs2122663084 | 533 | G>R | No | Ensembl | |
| rs2092038322 | 534 | G>E | No | gnomAD | |
| rs916588813 | 535 | A>G | No | gnomAD | |
| rs916588813 | 535 | A>V | No | gnomAD | |
| rs1165977770 | 536 | G>S | No | TOPMed | |
| rs868082006 | 537 | P>S | No |
TOPMed gnomAD |
|
| rs1423226829 | 538 | D>A | No |
TOPMed gnomAD |
|
| rs2092037998 | 538 | D>E | No | Ensembl | |
| rs1423226829 | 538 | D>G | No |
TOPMed gnomAD |
|
| rs992211283 | 539 | Q>* | No | Ensembl | |
|
rs1599840470 RCV000788229 |
539 | Q>R | No |
ClinVar Ensembl dbSNP |
|
| rs753008165 | 540 | D>E | No |
ExAC gnomAD |
|
| rs2092037817 | 540 | D>N | No | Ensembl | |
| rs142569357 | 541 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2092037473 | 543 | R>S | No | TOPMed | |
| rs2122662483 | 544 | L>M | No | Ensembl | |
| rs766348755 | 545 | L>F | No |
ExAC gnomAD |
|
| TCGA novel | 547 | E>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760475376 | 547 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs773087721 | 548 | Y>S | No |
ExAC TOPMed gnomAD |
|
| rs1386827488 | 549 | A>G | No |
TOPMed gnomAD |
|
| rs761571455 | 549 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs761571455 | 549 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs1386827488 | 549 | A>V | No |
TOPMed gnomAD |
|
|
COSM283277 rs1220070911 |
550 | F>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs774045085 | 553 | R>K | No |
ExAC gnomAD |
|
| rs1599840303 | 554 | S>R | No | Ensembl | |
| rs1477646921 | 555 | F>L | No | gnomAD | |
| rs185301991 | 556 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM4866892 COSM1000886 |
557 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1247665945 | 558 | L>P | No | gnomAD | |
| rs771490942 | 559 | T>P | No |
ExAC gnomAD |
|
| rs771490942 | 559 | T>S | No |
ExAC gnomAD |
|
| rs2122661624 | 560 | S>C | No | Ensembl | |
| TCGA novel | 560 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3423120 rs1276930622 COSM3423119 |
561 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1200180060 | 562 | F>V | No | gnomAD | |
| rs2092035500 | 566 | L>P | No | TOPMed | |
| rs2092035388 | 567 | L>P | No | TOPMed | |
| rs2122661038 | 570 | E>* | No | Ensembl | |
|
rs779347258 COSM6152070 COSM1526223 COSM6152071 |
570 | E>D | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated ExAC gnomAD NCI-TCGA Cosmic |
| rs201548420 | 572 | R>K | No |
1000Genomes TOPMed gnomAD |
|
| rs770293824 | 573 | S>G | No |
ExAC gnomAD |
|
| rs2092034857 | 574 | H>P | No | TOPMed | |
| rs149697517 | 574 | H>Y | No |
ESP gnomAD |
|
| rs760773785 | 576 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1443308113 | 578 | S>G | No |
TOPMed gnomAD |
|
| rs1568677526 | 578 | S>R | No | Ensembl | |
| rs767474846 | 579 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs767474846 | 579 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs761661148 | 579 | L>R | No |
ExAC gnomAD |
|
| rs767474846 | 579 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1448951520 | 581 | W>R | No |
TOPMed gnomAD |
|
|
COSM6152072 COSM6152073 |
583 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs775095635 | 584 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs775095635 | 584 | S>W | No |
ExAC TOPMed gnomAD |
|
| rs748531216 | 586 | H>R | No |
ExAC gnomAD |
|
| rs779367353 | 588 | K>N | No | ExAC | |
| rs1169308764 | 590 | D>H | No | gnomAD | |
| rs997190867 | 591 | L>V | No | TOPMed | |
| rs878878031 | 593 | Q>E | No | gnomAD | |
| rs1171712050 | 593 | Q>H | No | gnomAD | |
| rs2092032847 | 593 | Q>R | No | Ensembl | |
| rs1161008697 | 594 | W>* | No | Ensembl | |
| rs1306419036 | 594 | W>R | No | TOPMed | |
| rs1460244049 | 595 | I>M | No | TOPMed | |
| rs1473355440 | 595 | I>N | No | gnomAD | |
| rs1183410832 | 596 | Q>E | No | TOPMed | |
| rs1180717649 | 599 | A>S | No | gnomAD | |
| rs1030210296 | 600 | Q>E | No |
TOPMed gnomAD |
|
| rs780296520 | 602 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs2092032026 | 603 | G>D | No | gnomAD | |
| rs756202611 | 603 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1287358816 | 604 | S>F | No | gnomAD | |
|
COSM292052 rs997344815 |
605 | T>I | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs997344815 | 605 | T>N | No |
TOPMed gnomAD |
|
| rs997344815 | 605 | T>S | No |
TOPMed gnomAD |
|
|
rs767359058 TCGA novel |
607 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
| rs1326827275 | 608 | Q>* | No | TOPMed | |
| rs2092031330 | 610 | S>C | No | TOPMed | |
|
COSM3538450 COSM3538449 |
610 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM713856 COSM1646976 |
611 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs762705582 | 612 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs775055071 | 612 | E>D | No |
ExAC gnomAD |
|
| rs762705582 | 612 | E>V | No |
ExAC TOPMed gnomAD |
|
| rs759036045 | 613 | F>L | No |
ExAC gnomAD |
|
| rs1264586868 | 614 | F>L | No | Ensembl | |
| rs1413372782 | 616 | C>F | No | gnomAD | |
| rs1220115566 | 619 | E>G | No |
TOPMed gnomAD |
|
| rs139082917 | 619 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs370373416 | 621 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA gnomAD |
| rs2122658480 | 622 | E>K | No | Ensembl | |
| rs1307670106 | 624 | E>* | No |
TOPMed gnomAD |
|
|
COSM3538444 COSM3538443 |
624 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1225392452 | 624 | E>V | No |
TOPMed gnomAD |
|
| rs2122658295 | 626 | I>T | No | Ensembl | |
| rs2092029966 | 628 | Q>* | No | gnomAD | |
| rs745947638 | 628 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs2092029912 | 628 | Q>L | No | Ensembl | |
| TCGA novel | 629 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1318728752 | 629 | A>T | No |
TOPMed gnomAD |
|
| rs146250162 | 629 | A>V | Familial cold autoinflammatory syndrome 2 (fcas2) [Ensembl] | No |
1000Genomes ExAC TOPMed gnomAD |
| rs947961036 | 630 | L>R | No | Ensembl | |
| rs757216398 | 631 | S>G | No |
ExAC gnomAD |
|
| rs540940033 | 631 | S>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs540940033 | 631 | S>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1316109066 | 634 | Q>H | No |
TOPMed gnomAD |
|
| rs758248332 | 635 | V>M | No |
ExAC gnomAD |
|
| rs377343206 | 636 | I>S | No |
ESP ExAC gnomAD |
|
| rs759172362 | 638 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs992179891 | 638 | V>I | No | Ensembl | |
| rs765951747 | 639 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs765951747 | 639 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs1335003562 | 639 | S>R | No | gnomAD | |
| rs2092028681 | 640 | N>S | No | Ensembl | |
| rs1568676454 | 641 | I>M | No | gnomAD | |
| rs1405519522 | 641 | I>T | No |
TOPMed gnomAD |
|
|
COSM4081091 COSM4081090 |
642 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 644 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs199602036 | 644 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1277775692 | 645 | M>I | No | gnomAD | |
| rs2092028292 | 646 | E>G | No | Ensembl | |
|
COSM6152076 COSM6152077 |
647 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1036585145 | 647 | H>P | No | TOPMed | |
|
COSM4081089 COSM4081088 |
647 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1235146206 | 648 | M>T | No | gnomAD | |
| rs775053446 | 649 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs775053446 | 649 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs373806981 | 650 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs781361326 | 651 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs370478544 | 651 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
|
TCGA novel rs1359119829 |
652 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1568676266 | 653 | C>F | No | Ensembl | |
| rs1600706547 | 653 | C>R | No | Ensembl | |
| rs747078591 | 654 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs777756285 | 655 | K>R | No |
ExAC gnomAD |
|
| rs777756285 | 655 | K>T | No |
ExAC gnomAD |
|
| rs1183145840 | 656 | R>G | No |
TOPMed gnomAD |
|
|
rs2122656726 COSM1217451 |
656 | R>H | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs1396362997 | 657 | C>R | No | gnomAD | |
| rs758290959 | 657 | C>Y | No |
ExAC gnomAD |
|
| rs747407983 | 658 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs1188079800 | 659 | S>G | No | gnomAD | |
| rs986534152 | 660 | A>T | No |
TOPMed gnomAD |
|
| rs1211465559 | 661 | Q>* | No | gnomAD | |
| rs924036312 | 662 | V>L | No |
TOPMed gnomAD |
|
| rs924036312 | 662 | V>M | No |
TOPMed gnomAD |
|
| rs2092026448 | 663 | L>P | No | TOPMed | |
| rs2092026448 | 663 | L>R | No | TOPMed | |
| rs978615320 | 664 | H>P | No | TOPMed | |
|
RCV000762036 rs377549646 |
664 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD ClinVar dbSNP |
| rs978615320 | 664 | H>R | No | TOPMed | |
| rs1227674940 | 665 | L>F | No | gnomAD | |
| rs776802715 | 666 | Y>* | No | ExAC | |
| TCGA novel | 666 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1394707799 | 667 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2092025745 | 668 | A>D | No | Ensembl | |
| rs1337205488 | 670 | Y>C | No | Ensembl | |
| rs2122655868 | 672 | A>T | No | Ensembl | |
|
COSM3538439 COSM3538440 |
674 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs139937024 | 674 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs776896457 | 675 | E>K | No |
ExAC gnomAD |
|
| rs771138435 | 676 | D>N | No |
ExAC gnomAD |
|
|
COSM3835646 COSM3835647 |
677 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1486614352 | 677 | R>G | No | gnomAD | |
| rs1568675750 | 677 | R>P | No | Ensembl | |
| rs1253344917 | 679 | R>K | No | gnomAD | |
| rs574294757 | 680 | C>* | No |
TOPMed gnomAD |
|
| rs574294757 | 680 | C>W | No |
TOPMed gnomAD |
|
| rs1321559511 | 681 | S>A | No | gnomAD | |
| rs2092024362 | 683 | G>V | No | Ensembl | |
| rs2122655269 | 684 | A>T | No | Ensembl | |
| rs749974149 | 685 | H>L | No |
ExAC TOPMed gnomAD |
|
| rs749974149 | 685 | H>P | No |
ExAC TOPMed gnomAD |
|
| rs749974149 | 685 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs1020226424 | 686 | T>A | No |
TOPMed gnomAD |
|
| rs1383983279 | 687 | L>V | No | TOPMed | |
| rs2092023569 | 690 | Q>* | No | gnomAD | |
| rs149593994 | 690 | Q>H | No | ESP | |
| rs765648874 | 690 | Q>R | No |
ExAC gnomAD |
|
| TCGA novel | 691 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760012636 | 691 | L>R | Familial cold autoinflammatory syndrome 2 (fcas2) [Ensembl] | No |
ExAC gnomAD |
| rs1600700842 | 695 | T>A | No | Ensembl | |
| rs777101095 | 695 | T>N | No |
ExAC gnomAD |
|
| rs777101095 | 695 | T>S | No |
ExAC gnomAD |
|
| rs568227595 | 696 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs754386212 | 697 | L>V | No |
ExAC gnomAD |
|
| rs756533773 | 699 | D>E | No |
ExAC TOPMed gnomAD |
|
|
COSM1646978 COSM712864 rs1170715499 |
700 | A>T | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs200559837 | 701 | Y>C | No | Ensembl | |
| rs1193007213 | 703 | E>V | No | TOPMed | |
| rs2091982925 | 704 | H>L | No |
TOPMed gnomAD |
|
| rs2091982829 | 705 | L>P | No | TOPMed | |
| rs2091982829 | 705 | L>R | No | TOPMed | |
|
COSM6085864 COSM6085865 |
705 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs943645295 | 706 | A>V | No | Ensembl | |
| rs202169378 | 707 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs371640804 | 707 | A>P | No |
ESP TOPMed |
|
| rs548404405 | 709 | L>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs764307466 | 710 | C>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs763101445 | 712 | N>D | No |
ExAC gnomAD |
|
|
rs1332688085 COSM4913302 COSM4913301 |
712 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs769787883 | 713 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs769787883 | 713 | P>S | No |
ExAC TOPMed gnomAD |
|
|
rs1235771462 COSM1259207 |
714 | N>K | oesophagus [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs200828299 | 715 | L>M | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 716 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1327945391 | 717 | E>Q | No | gnomAD | |
| rs771589979 | 719 | S>P | No |
ExAC gnomAD |
|
| rs747596009 | 720 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs780538490 | 721 | Y>* | No |
ExAC gnomAD |
|
| rs2091981539 | 721 | Y>H | No | Ensembl | |
| rs750852187 | 722 | R>G | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 726 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs373285006 | 728 | R>P | No |
ESP TOPMed gnomAD |
|
|
COSM2928994 rs771632319 COSM1396141 |
730 | V>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs2091980633 | 730 | V>G | No | Ensembl | |
| rs776527127 | 730 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs770660560 | 731 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1214790566 | 732 | L>V | No |
TOPMed gnomAD |
|
| rs1232381798 | 733 | L>P | No | gnomAD | |
| rs1356045847 | 734 | C>F | No | gnomAD | |
| rs1450453897 | 735 | Q>E | No | TOPMed | |
| rs2091980049 | 736 | G>V | No |
TOPMed gnomAD |
|
| rs1600700242 | 737 | L>F | No | Ensembl | |
| rs560050058 | 738 | R>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs778376674 RCV001815869 |
739 | H>P | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs778376674 | 739 | H>R | No |
ExAC gnomAD |
|
| rs1329863077 | 739 | H>Y | No |
TOPMed gnomAD |
|
| rs1232397820 | 740 | P>S | No |
TOPMed gnomAD |
|
| rs548804330 | 741 | N>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs781690422 | 741 | N>K | No |
ExAC gnomAD |
|
| rs548804330 | 741 | N>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs74373537 | 743 | K>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1600700129 | 743 | K>R | No | TOPMed | |
| rs1255196444 | 744 | L>P | No | gnomAD | |
| rs952902121 | 746 | N>D | No | TOPMed | |
| rs199475869 | 746 | N>K | No |
TOPMed gnomAD |
|
| rs1468212533 | 748 | R>K | No | gnomAD | |
|
COSM6152086 COSM6152085 COSM6152084 |
750 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780155523 | 751 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3835643 COSM3835644 rs1212259828 COSM3835645 |
752 | C>Y | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
rs781218927 COSM4843485 COSM4843484 COSM4843486 |
753 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs781218927 | 753 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs2091942977 | 754 | I>V | No | TOPMed | |
| rs1235669661 | 755 | S>C | No | gnomAD | |
| rs1411775107 | 756 | S>C | No |
TOPMed gnomAD |
|
| TCGA novel | 756 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2091942827 | 756 | S>R | No | Ensembl | |
| rs1334450213 | 757 | S>* | No | gnomAD | |
| rs763712459 | 759 | C>* | No |
ExAC TOPMed gnomAD |
|
| rs187043374 | 759 | C>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs187043374 | 759 | C>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 761 | D>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1393453410 | 762 | L>R | No | gnomAD | |
| rs1305965769 | 763 | S>F | No |
TOPMed gnomAD |
|
| rs764833458 | 763 | S>T | No |
ExAC gnomAD |
|
|
COSM4797927 COSM4797926 COSM4797925 |
765 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2091942257 | 766 | L>F | No | gnomAD | |
| rs759065218 | 767 | I>M | No |
ExAC gnomAD |
|
| rs1335077713 | 767 | I>R | No |
TOPMed gnomAD |
|
| rs1335077713 | 767 | I>T | No |
TOPMed gnomAD |
|
| rs773866246 | 768 | A>G | No |
ExAC gnomAD |
|
|
rs2091942129 COSM212589 |
768 | A>T | breast [Cosmic] | No |
cosmic curated Ensembl |
| rs2122610798 | 769 | N>D | No | Ensembl | |
| rs774760366 | 769 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs762331289 | 769 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1285416657 | 770 | K>* | No |
TOPMed gnomAD |
|
| TCGA novel | 770 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1274216692 | 771 | N>K | No |
TOPMed gnomAD |
|
| rs1349204824 | 772 | L>S | No | gnomAD | |
| rs1215875993 | 772 | L>V | No | gnomAD | |
| TCGA novel | 773 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749559392 | 773 | T>R | No |
ExAC gnomAD |
|
|
rs780092868 RCV001357362 |
774 | R>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2091941320 | 775 | M>I | No | gnomAD | |
| rs2122610134 | 776 | D>E | No | Ensembl | |
|
COSM4399588 rs1003800314 COSM4399586 COSM4399587 |
776 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
| rs2091941180 | 778 | S>G | No | Ensembl | |
| rs2091941130 | 778 | S>N | No | TOPMed | |
| rs769879112 | 778 | S>R | No |
ExAC gnomAD |
|
| rs535796422 | 780 | N>H | No | Ensembl | |
| rs371264069 | 780 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2091940921 | 780 | N>S | No | Ensembl | |
| rs1369703868 | 781 | G>D | No | gnomAD | |
| rs143739468 | 782 | V>F | No |
ESP ExAC TOPMed gnomAD |
|
|
rs143739468 COSM5037524 COSM5037525 COSM5037526 |
782 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs993470754 | 784 | F>L | No |
TOPMed gnomAD |
|
| rs2091940490 | 786 | G>V | No |
TOPMed gnomAD |
|
|
COSM4286670 COSM3538429 COSM3538428 |
787 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs752414417 | 788 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs758088048 | 788 | M>V | No |
ExAC TOPMed gnomAD |
|
|
COSM4942041 COSM4942042 COSM4942040 |
789 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1444047397 | 790 | L>F | No | TOPMed | |
| rs1454001307 | 790 | L>P | No | gnomAD | |
| rs764737123 | 791 | C>F | No |
ExAC gnomAD |
|
| rs1169304570 | 791 | C>R | No |
TOPMed gnomAD |
|
| rs978653815 | 791 | C>W | No |
TOPMed gnomAD |
|
| rs764737123 | 791 | C>Y | No |
ExAC gnomAD |
|
| rs2091939854 | 792 | E>G | No | Ensembl | |
| rs753391798 | 792 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1206236464 | 793 | G>S | No | gnomAD | |
| rs2122608544 | 797 | P>S | No | Ensembl | |
| rs4806773 | 798 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs199913848 | 799 | C>* | No |
TOPMed gnomAD |
|
| rs954799176 | 802 | Q>* | No | Ensembl | |
| rs2091939054 | 802 | Q>L | No | Ensembl | |
| rs1382727542 | 803 | M>I | No |
TOPMed gnomAD |
|
| TCGA novel | 803 | M>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1042942004 | 803 | M>L | No |
TOPMed gnomAD |
|
| rs2091938916 | 805 | Q>K | No | Ensembl | |
| rs776793487 | 806 | L>W | No |
ExAC TOPMed gnomAD |
|
| rs2091917788 | 807 | R>K | No | Ensembl | |
| TCGA novel | 807 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2091917748 | 807 | R>S | No | Ensembl | |
| rs747001650 | 809 | C>S | No |
ExAC TOPMed gnomAD |
|
| rs747001650 | 809 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs989795244 | 810 | Q>R | No |
TOPMed gnomAD |
|
| rs773204355 | 811 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs771895392 | 812 | E>* | No |
ExAC gnomAD |
|
| rs2091917154 | 816 | C>Y | No |
TOPMed gnomAD |
|
| rs2091917103 | 817 | Q>* | No |
TOPMed gnomAD |
|
| rs1277352340 | 817 | Q>H | No | TOPMed | |
| rs201336142 | 818 | E>D | No |
1000Genomes ExAC gnomAD |
|
| rs764721693 | 819 | M>T | No |
ExAC gnomAD |
|
| rs758809508 | 820 | A>P | No |
ExAC TOPMed gnomAD |
|
|
COSM4399107 COSM4399109 COSM4399108 |
821 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1379731837 | 821 | S>Y | No | gnomAD | |
| rs1317118140 | 823 | L>P | No | TOPMed | |
| rs372647059 | 824 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs372647059 | 824 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1451102777 | 824 | G>V | No |
TOPMed gnomAD |
|
| rs1467572548 | 825 | T>N | No | gnomAD | |
| rs1164582530 | 827 | P>R | No | gnomAD | |
| rs926941594 | 827 | P>S | No |
TOPMed gnomAD |
|
| rs1408866535 | 829 | L>V | No | Ensembl | |
| rs772091810 | 830 | V>A | No |
ExAC gnomAD |
|
| rs1178863426 | 835 | T>I | No | gnomAD | |
| rs774385336 | 835 | T>S | No |
ExAC gnomAD |
|
|
COSM4814083 COSM440227 COSM1712747 rs2091915465 |
836 | G>E | Variant assessed as Somatic; MODERATE impact. skin breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1458972025 | 836 | G>R | No | gnomAD | |
| rs1250922737 | 837 | N>K | No |
TOPMed gnomAD |
|
| rs2091915290 | 838 | A>G | No | Ensembl | |
| rs768588697 | 838 | A>T | No |
ExAC gnomAD |
|
| rs2091915200 | 839 | L>V | No | Ensembl | |
| rs2091915162 | 840 | E>V | No | TOPMed | |
| rs2091915117 | 842 | L>V | No | TOPMed | |
| rs2091915027 | 844 | L>P | No |
TOPMed gnomAD |
|
| rs780537274 | 845 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs756752567 | 847 | L>I | No |
ExAC gnomAD |
|
| rs753224342 | 848 | C>R | No |
ExAC gnomAD |
|
| rs1368960277 | 848 | C>Y | No | gnomAD | |
| rs2122592410 | 849 | Q>H | No | Ensembl | |
| rs2122592378 | 850 | G>* | No | Ensembl | |
| rs1442041684 | 853 | H>L | No | gnomAD | |
| rs1285704953 | 853 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
COSM4860159 COSM712865 COSM1646953 |
855 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1157522602 | 855 | V>L | No | gnomAD | |
| rs2091914379 | 856 | C>* | No | TOPMed | |
| rs1241287951 | 856 | C>F | No | gnomAD | |
| rs2091914460 | 856 | C>R | No | TOPMed | |
| rs754196246 | 857 | R>T | No |
ExAC gnomAD |
|
| rs199829062 | 858 | L>R | No |
1000Genomes ExAC gnomAD |
|
| rs1024237885 | 861 | L>F | No |
TOPMed gnomAD |
|
|
rs1568662444 RCV000762033 |
862 | W>* | No |
ClinVar Ensembl dbSNP |
|
| rs1458339356 | 863 | L>Q | No |
TOPMed gnomAD |
|
| rs546386036 | 865 | I>V | No |
1000Genomes ExAC gnomAD |
|
| rs149373778 | 867 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1244939281 | 868 | L>R | No | gnomAD | |
| rs386810802 | 869 | T>P | No | Ensembl | |
| rs2091868326 | 869 | T>S | No | Ensembl | |
|
COSM4781798 COSM2150881 rs1325036444 COSM2150880 |
870 | A>T | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs757533733 | 872 | A>T | No |
ExAC gnomAD |
|
| rs1555793610 | 873 | C>W | No | TOPMed | |
| rs1008086271 | 873 | C>Y | No |
TOPMed gnomAD |
|
| rs368897676 | 874 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM6085866 COSM6085868 COSM6085867 |
875 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1209386950 | 876 | L>M | No |
TOPMed gnomAD |
|
| rs765153196 | 877 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs765153196 | 877 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2091867716 | 877 | A>V | No |
TOPMed gnomAD |
|
| rs759316344 | 878 | S>L | No |
ExAC gnomAD |
|
| rs2091867655 | 878 | S>P | No | Ensembl | |
| rs776472768 | 879 | T>I | No |
ExAC gnomAD |
|
| rs1426482687 | 879 | T>S | No | TOPMed | |
| rs1362149501 | 880 | L>P | No |
TOPMed gnomAD |
|
| rs2122563824 | 881 | S>G | No | Ensembl | |
| rs2091867183 | 881 | S>R | No | gnomAD | |
| rs371601060 | 882 | V>M | No |
ESP TOPMed |
|
|
COSM98222 rs144100614 |
884 | Q>H | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated ESP TOPMed gnomAD |
| rs1158053220 | 884 | Q>K | No | gnomAD | |
|
rs766064896 COSM1649505 COSM6085871 COSM567546 COSM6085869 COSM6085870 |
884 | Q>R | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs772809342 | 886 | L>R | No |
ExAC gnomAD |
|
| rs898504058 | 887 | R>G | No |
TOPMed gnomAD |
|
| rs1171687972 | 887 | R>K | No |
TOPMed gnomAD |
|
| rs1451360020 | 887 | R>S | No | gnomAD | |
| TCGA novel | 888 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs865802899 | 892 | S>I | No | gnomAD | |
| rs865802899 | 892 | S>N | No | gnomAD | |
| rs1354001529 | 894 | N>K | No | gnomAD | |
| rs575519320 | 895 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs781590013 | 896 | L>V | No |
ExAC gnomAD |
|
| rs1423091327 | 897 | G>E | No | gnomAD | |
| rs138514430 | 898 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1655693026 | 899 | L>F | No | TOPMed | |
| rs1317584720 | 900 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs199625646 | 900 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs104895568 | 901 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1420357536 | 904 | L>V | No | gnomAD | |
| rs765144536 | 906 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs2091865173 | 908 | L>I | No | TOPMed | |
| rs753612159 | 909 | R>G | No |
ExAC gnomAD |
|
| TCGA novel | 910 | H>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760410517 | 910 | H>Q | No |
ExAC gnomAD |
|
|
COSM1646954 COSM712866 COSM4861313 rs1263040111 |
911 | P>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
COSM4814751 COSM1481459 COSM4814750 |
911 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs750086255 COSM192948 |
912 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs761290302 | 913 | C>S | No |
ExAC gnomAD |
|
| rs2091864572 | 913 | C>Y | No | gnomAD | |
| rs934954582 | 915 | L>I | No | Ensembl | |
|
COSM567547 COSM6085874 COSM6085872 COSM6085873 rs201596732 COSM1649506 |
919 | R>L | lung Variant assessed as Somatic; MODERATE impact. Familial cold autoinflammatory syndrome 2 (fcas2) [Cosmic, NCI-TCGA, Ensembl] | No |
cosmic curated NCI-TCGA Cosmic ESP ExAC TOPMed gnomAD |
| rs1227854063 | 921 | G>D | No | gnomAD | |
| rs1430424840 | 922 | I>M | No |
TOPMed gnomAD |
|
| rs767041308 | 922 | I>T | No |
ExAC gnomAD |
|
| rs2091809360 | 923 | C>R | No | TOPMed | |
| rs767943408 | 926 | G>R | No |
ExAC gnomAD |
|
| rs762023965 | 928 | A>S | No |
ExAC gnomAD |
|
| rs762023965 | 928 | A>T | No |
ExAC gnomAD |
|
| rs2091809026 | 928 | A>V | No | gnomAD | |
| rs146671776 | 929 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs769829992 | 930 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs1404302953 | 931 | E>K | No |
TOPMed gnomAD |
|
| rs757080480 | 933 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA |
| TCGA novel | 935 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2091808114 | 936 | V>G | No | gnomAD | |
| rs1345896271 | 937 | L>R | No | TOPMed | |
| rs746777193 | 938 | Q>R | No |
ExAC gnomAD |
|
| rs1220727074 | 942 | N>T | No |
TOPMed gnomAD |
|
| rs200742741 | 944 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs370723078 | 945 | E>D | No |
ESP ExAC TOPMed |
|
| rs1021523642 | 946 | L>P | No | gnomAD | |
| rs1021523642 | 946 | L>R | No | gnomAD | |
| rs1376488367 | 946 | L>V | No |
TOPMed gnomAD |
|
| rs1269084802 | 948 | L>F | No | TOPMed | |
| rs762303093 | 949 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs2091807071 | 949 | S>N | No | Ensembl | |
| rs2091806882 | 953 | L>V | No | TOPMed | |
| rs1161958313 | 954 | G>E | No | TOPMed | |
|
COSM4484863 rs1362127424 COSM4484864 |
955 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
| rs775645336 | 956 | W>* | No |
ExAC gnomAD |
|
| rs1463289115 | 956 | W>* | No | TOPMed | |
| rs149951954 | 957 | G>C | No |
ESP TOPMed gnomAD |
|
| rs769875435 | 957 | G>D | No |
ExAC gnomAD |
|
| rs1367609448 | 959 | W>R | No |
TOPMed gnomAD |
|
| TCGA novel | 960 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 963 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1600675310 | 963 | E>G | No | Ensembl | |
| rs139165669 | 963 | E>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs770762722 | 964 | G>A | No |
ExAC gnomAD |
|
| COSM71851 | 965 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2091806004 | 966 | Q>* | No | Ensembl | |
|
COSM4081079 COSM4081078 |
966 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777398049 | 966 | Q>R | No |
ExAC gnomAD |
|
| rs1422802865 | 967 | H>Q | No | gnomAD | |
| rs2091805775 | 967 | H>R | No | TOPMed | |
| rs2091805823 | 967 | H>Y | No | gnomAD | |
| rs771953294 | 968 | P>H | No |
ExAC gnomAD |
|
| rs771953294 | 968 | P>L | No |
ExAC gnomAD |
|
| rs754537076 | 969 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs2091805381 | 970 | C>S | No | Ensembl | |
| rs781748402 | 971 | R>T | No | ExAC | |
| rs1244542663 | 972 | L>H | No | gnomAD | |
| rs915851851 | 974 | K>E | No |
TOPMed gnomAD |
|
| rs752069080 | 975 | L>M | No | ExAC | |
| rs549778989 | 975 | L>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1374590421 | 976 | W>* | No | TOPMed | |
| rs750514177 | 977 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs761875593 | 978 | D>G | No |
ExAC gnomAD |
|
| rs1158255725 | 979 | S>R | No | gnomAD | |
|
COSM4081075 COSM4081074 |
980 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs541622856 | 980 | C>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1433136362 | 984 | A>D | No |
TOPMed gnomAD |
|
| TCGA novel | 984 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs993368284 | 985 | K>M | No | Ensembl | |
| rs993368284 | 985 | K>R | No | Ensembl | |
| rs1268644081 | 986 | A>T | No | gnomAD | |
| rs1199567548 | 987 | C>R | No |
TOPMed gnomAD |
|
| rs369502542 | 987 | C>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1215467421 | 988 | E>K | No | gnomAD | |
| TCGA novel | 989 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1262306029 | 991 | Y>H | No | gnomAD | |
| rs1330489468 | 993 | T>A | No | gnomAD | |
| rs1369763318 | 994 | L>V | No |
TOPMed gnomAD |
|
| rs1000468466 | 995 | G>E | No |
TOPMed gnomAD |
|
| rs377269841 | 995 | G>R | No |
ESP gnomAD |
|
| rs968983832 | 997 | N>H | No | Ensembl | |
| rs770386298 | 998 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs748675429 | 998 | Q>R | No |
ExAC gnomAD |
|
| rs779333916 | 999 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs779333916 | 999 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1378786544 | 1000 | L>W | No | gnomAD | |
| rs2091749987 | 1001 | T>I | No | gnomAD | |
| rs2091749987 | 1001 | T>N | No | gnomAD | |
| rs144746100 | 1002 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs367741104 | 1003 | L>F | No |
ESP TOPMed gnomAD |
|
| rs367741104 | 1003 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
| rs1447246316 | 1003 | L>R | No | gnomAD | |
| rs2091749620 | 1004 | Y>* | No | Ensembl | |
|
COSM6152087 COSM6152088 |
1004 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs140154556 | 1006 | T>I | No |
1000Genomes ExAC |
|
| rs751548505 | 1007 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs140769141 | 1008 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1225275951 | 1009 | A>D | No |
TOPMed gnomAD |
|
| rs1256306834 | 1009 | A>T | No |
TOPMed gnomAD |
|
| rs1462059827 | 1010 | L>P | No | TOPMed | |
|
COSM6085875 COSM6085876 |
1011 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2091749085 | 1011 | G>W | No |
TOPMed gnomAD |
|
| rs1400666519 | 1012 | D>G | No |
TOPMed gnomAD |
|
| rs762718535 | 1012 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs538392013 | 1013 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1013 | T>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs538392013 | 1013 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2091748648 | 1014 | G>A | No | Ensembl | |
|
COSM3893330 COSM3893331 |
1014 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2091748511 | 1015 | V>L | No | gnomAD | |
| rs35064500 | 1016 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs770437378 | 1016 | R>P | No |
ExAC TOPMed gnomAD |
|
|
rs770437378 COSM4784751 COSM1396138 |
1016 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1423476702 | 1018 | L>P | No | gnomAD | |
| rs774905024 | 1021 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs749662133 | 1025 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2091747636 | 1026 | G>C | No | Ensembl | |
| rs780433429 | 1027 | C>Y | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1028 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM5424947 COSM5424948 |
1029 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4899332 COSM3538420 |
1031 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4816366 COSM4816365 COSM1494450 |
1032 | L>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1348599488 | 1033 | W>* | No | gnomAD | |
| rs758327747 | 1033 | W>L | No | ExAC | |
| TCGA novel | 1037 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs906885246 | 1037 | M>R | No | gnomAD | |
| rs906885246 | 1037 | M>T | No | gnomAD | |
| rs1039120184 | 1038 | D>G | No |
TOPMed gnomAD |
|
| TCGA novel | 1038 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs368267597 | 1039 | L>V | No |
ESP gnomAD |
|
| rs753617619 | 1041 | K>E | No |
ExAC TOPMed |
|
| rs143874173 | 1043 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM6152089 COSM6152091 COSM6152090 |
1045 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4859688 COSM712868 COSM1646956 |
1046 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2091700932 | 1047 | L>W | No | TOPMed | |
| rs767070208 | 1048 | A>E | No |
ExAC gnomAD |
|
| rs146786265 | 1049 | A>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs542222591 | 1052 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000658853 rs1555791815 |
1054 | K>missing | No |
ClinVar dbSNP |
|
| rs2122481485 | 1055 | P>T | No | Ensembl | |
| rs1157637107 | 1056 | Y>H | No | TOPMed | |
| rs773246978 | 1057 | L>S | No |
ExAC TOPMed gnomAD |
|
| rs772194180 | 1059 | I>M | No |
ExAC gnomAD |
|
| rs1301792646 | 1060 | G>V | No | Ensembl | |
| rs1600663183 | 1061 | C>W | No | Ensembl | |
| rs199976849 | 1061 | C>Y | No |
1000Genomes ExAC gnomAD |
1 associated diseases with P59046
[MIM: 611762]: Familial cold autoinflammatory syndrome 2 (FCAS2)
A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. . Note=The disease is caused by variants affecting the gene represented in this entry.
10 regional properties for P59046
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Leucine-rich repeat | 769 - 791 | IPR001611-1 |
| repeat | Leucine-rich repeat | 825 - 848 | IPR001611-2 |
| repeat | Leucine-rich repeat | 882 - 906 | IPR001611-3 |
| repeat | Leucine-rich repeat | 939 - 958 | IPR001611-4 |
| repeat | Leucine-rich repeat | 997 - 1019 | IPR001611-5 |
| domain | DAPIN domain | 1 - 95 | IPR004020 |
| domain | NACHT nucleoside triphosphatase | 211 - 528 | IPR007111 |
| domain | NACHT-associated domain | 128 - 201 | IPR029495 |
| domain | NOD1/2, winged helix domain | 459 - 512 | IPR041075 |
| domain | NACHT, LRR and PYD domains-containing protein, helical domain HD2 | 514 - 628 | IPR041267 |
2 GO annotations of cellular component
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cysteine-type endopeptidase activator activity involved in apoptotic process | Binds to and increases the rate of proteolysis catalyzed by a cysteine-type endopeptidase involved in the apoptotic process. |
| protein-macromolecule adaptor activity | The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid. |
23 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process. |
| cellular response to cytokine stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. |
| dendritic cell migration | The movement of a dendritic cell within or between different tissues and organs of the body. |
| ERK1 and ERK2 cascade | An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier |
| negative regulation of canonical NF-kappaB signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling. |
| negative regulation of cytokine production | Any process that stops, prevents, or reduces the rate of production of a cytokine. |
| negative regulation of ERK1 and ERK2 cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| negative regulation of inflammatory response | Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. |
| negative regulation of interleukin-1 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-1 production. |
| negative regulation of interleukin-6 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-6 production. |
| negative regulation of NF-kappaB transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB. |
| negative regulation of non-canonical NF-kappaB signal transduction | Any process that stops, prevents or reduces the frequency, rate or extent of NIK/NF-kappaB signaling. |
| negative regulation of protein autophosphorylation | Any process that stops, prevents or decreases the rate of the phosphorylation by a protein of one or more of its own residues. |
| negative regulation of signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. |
| negative regulation of Toll signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the Tl signaling pathway. |
| 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 beta production | Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production. |
| positive regulation of MHC class I biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of MHC class I. |
| positive regulation of non-canonical NF-kappaB signal transduction | Any process that activates or increases the frequency, rate or extent of NIK/NF-kappaB signaling. |
| regulation of canonical NF-kappaB signal transduction | Any process that modulates I-kappaB kinase/NF-kappaB signaling. |
| regulation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that modulates the activity of a cysteine-type endopeptidase involved in apoptosis. |
| regulation of interleukin-18 production | Any process that modulates the frequency, rate, or extent of interleukin-18 production. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
7 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 |
| Q86W26 | NLRP10 | NACHT, LRR and PYD domains-containing protein 10 | Homo sapiens (Human) | PR |
| Q96P20 | NLRP3 | NACHT, LRR and PYD domains-containing protein 3 | Homo sapiens (Human) | EV |
| Q9C000 | NLRP1 | NACHT, LRR and PYD domains-containing protein 1 | Homo sapiens (Human) | EV |
| E9Q5R7 | Nlrp12 | NACHT, LRR and PYD domains-containing protein 12 | Mus musculus (Mouse) | SS |
| A1Z198 | Nlrp1b | NACHT, LRR and PYD domains-containing protein 1b allele 2 | Mus musculus (Mouse) | SS |
| Q2LKU9 | Nlrp1a | NACHT, LRR and PYD domains-containing protein 1a | Mus musculus (Mouse) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLRTAGRDGL | CRLSTYLEEL | EAVELKKFKL | YLGTATELGE | GKIPWGSMEK | AGPLEMAQLL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ITHFGPEEAW | RLALSTFERI | NRKDLWERGQ | REDLVRDTPP | GGPSSLGNQS | TCLLEVSLVT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PRKDPQETYR | DYVRRKFRLM | EDRNARLGEC | VNLSHRYTRL | LLVKEHSNPM | QVQQQLLDTG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RGHARTVGHQ | ASPIKIETLF | EPDEERPEPP | RTVVMQGAAG | IGKSMLAHKV | MLDWADGKLF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QGRFDYLFYI | NCREMNQSAT | ECSMQDLIFS | CWPEPSAPLQ | ELIRVPERLL | FIIDGFDELK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PSFHDPQGPW | CLCWEEKRPT | ELLLNSLIRK | KLLPELSLLI | TTRPTALEKL | HRLLEHPRHV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EILGFSEAER | KEYFYKYFHN | AEQAGQVFNY | VRDNEPLFTM | CFVPLVCWVV | CTCLQQQLEG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GGLLRQTSRT | TTAVYMLYLL | SLMQPKPGAP | RLQPPPNQRG | LCSLAADGLW | NQKILFEEQD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LRKHGLDGED | VSAFLNMNIF | QKDINCERYY | SFIHLSFQEF | FAAMYYILDE | GEGGAGPDQD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VTRLLTEYAF | SERSFLALTS | RFLFGLLNEE | TRSHLEKSLC | WKVSPHIKMD | LLQWIQSKAQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SDGSTLQQGS | LEFFSCLYEI | QEEEFIQQAL | SHFQVIVVSN | IASKMEHMVS | SFCLKRCRSA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QVLHLYGATY | SADGEDRARC | SAGAHTLLVQ | LPERTVLLDA | YSEHLAAALC | TNPNLIELSL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YRNALGSRGV | KLLCQGLRHP | NCKLQNLRLK | RCRISSSACE | DLSAALIANK | NLTRMDLSGN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GVGFPGMMLL | CEGLRHPQCR | LQMIQLRKCQ | LESGACQEMA | SVLGTNPHLV | ELDLTGNALE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DLGLRLLCQG | LRHPVCRLRT | LWLKICRLTA | AACDELASTL | SVNQSLRELD | LSLNELGDLG |
| 910 | 920 | 930 | 940 | 950 | 960 |
| VLLLCEGLRH | PTCKLQTLRL | GICRLGSAAC | EGLSVVLQAN | HNLRELDLSF | NDLGDWGLWL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LAEGLQHPAC | RLQKLWLDSC | GLTAKACENL | YFTLGINQTL | TDLYLTNNAL | GDTGVRLLCK |
| 1030 | 1040 | 1050 | 1060 | ||
| RLSHPGCKLR | VLWLFGMDLN | KMTHSRLAAL | RVTKPYLDIG | C |