Q9UI47
SS
Gene name |
CTNNA3 |
Protein name |
Catenin alpha-3 |
Names |
Alpha T-catenin , Cadherin-associated protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:29119 |
EC number |
|
Protein Class |
|
Descriptions
Alpha-catenin acts as a mechanosensor in adherens junction formation by facilitating the recruitment of vinculin to adherens junctions in the actomyosin-derived tension-dependent manner. Alpha-catenin consists of three major domains with distinct functionalities: an N-terminal (N) domain participates in beta-catenin binding and homodimerization; a modulatory (M) domain interacts with several actin-binding proteins, including vinculin; and a C-terminal (C) domain directly and/or indirectly binds to F-actin. In catenin alpha-1 (Ctnna1, αE-catenin), the vinculin-binding site (VBS) is autoinhibited by occluding the vinculin-binding hydrophobic surfaces within the MI helical bundle. The MIII region inhibits the interaction between the VBS and vinculin. In the high-tension state, Ctnna1 adopts the "open" conformation that disrupts the inhibitory role of MIII region, releasing the MI bundle and unfurling the vinculin-binding site.
Autoinhibitory domains (AIDs)
Target domain |
300-347 (vinculin-binding site within the MI region) |
Relief mechanism |
Others |
Assay |
|
Target domain |
658-852 (F-actin binding domain) |
Relief mechanism |
Partner binding |
Assay |
|
Target domain |
260-626 (Middle region) |
Relief mechanism |
Others |
Assay |
|
Accessory elements
No accessory elements
References
- Ishiyama N et al. (2013) "An autoinhibited structure of α-catenin and its implications for vinculin recruitment to adherens junctions", The Journal of biological chemistry, 288, 15913-25
- Hirano Y et al. (2018) "The force-sensing device region of α-catenin is an intrinsically disordered segment in the absence of intramolecular stabilization of the autoinhibitory form", Genes to cells : devoted to molecular & cellular mechanisms, 23, 370-385
- Choi HJ et al. (2012) "αE-catenin is an autoinhibited molecule that coactivates vinculin", Proceedings of the National Academy of Sciences of the United States of America, 109, 8576-81
- Heier JA et al. (2021) "Distinct intramolecular interactions regulate autoinhibition of vinculin binding in αT-catenin and αE-catenin", The Journal of biological chemistry, 296, 100582
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Rangarajan ES et al. (2023) "Distinct inter-domain interactions of dimeric versus monomeric α-catenin link cell junctions to filaments", Communications biology, 6, 276
- Barrick S et al. (2018) "Salt bridges gate α-catenin activation at intercellular junctions", Molecular biology of the cell, 29, 111-122
- Li J et al. (2015) "Structural Determinants of the Mechanical Stability of α-Catenin", The Journal of biological chemistry, 290, 18890-903
Autoinhibited structure
Activated structure
1 structures for Q9UI47
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UI47-F1 | Predicted | AlphaFoldDB |
1213 variants for Q9UI47
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1839754072 RCV001244043 |
1 | M>L | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776492451 RCV001964701 |
6 | P>missing | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001321859 rs756147614 |
6 | P>A | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1839752364 RCV002014401 |
12 | D>N | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000157156 CA346264 rs730880069 |
12 | D>V | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1169564335 RCV001959626 |
13 | P>missing | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000801150 rs1589530547 |
14 | Q>* | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001235946 COSM1348649 rs776250185 COSM3397210 COSM1348650 RCV001699522 |
23 | V>M | Variant assessed as Somatic; MODERATE impact. large_intestine central_nervous_system Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001947344 rs1327418198 |
26 | L>I | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs760248318 RCV001904861 |
36 | T>P | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001970600 rs1843301169 |
37 | L>* | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001219114 RCV002379825 rs759426077 |
44 | P>A | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749212121 RCV003163696 RCV001220363 |
51 | R>C | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000537992 CA5520691 RCV003362845 rs139105272 |
52 | S>L | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1843298119 RCV001296800 |
61 | S>P | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002429126 RCV000232378 CA5520680 rs771791661 |
71 | D>E | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001372477 rs371997421 |
72 | K>E | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
CA080804 rs201306690 RCV000208496 RCV001853297 |
78 | Q>* | Primary familial hypertrophic cardiomyopathy Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000157157 rs730880070 CA346266 |
81 | T>I | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587777134 VAR_070998 CA150594 RCV000087056 |
94 | V>D | Arrhythmogenic right ventricular dysplasia 13 ARVD13 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs746030160 RCV001053122 |
95 | R>C | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs777996573 RCV001043911 |
102 | K>I | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002025832 rs1261483627 |
105 | A>S | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002322329 rs1206597536 RCV001363074 |
108 | F>S | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1485074194 RCV001923278 |
112 | P>S | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1840603727 RCV001875314 |
121 | V>E | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002350516 rs779719958 RCV001295695 |
124 | A>T | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002016051 rs550249818 |
125 | A>S | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs373661106 RCV001322050 RCV002350592 |
126 | R>C | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs373661106 RCV001907691 |
126 | R>G | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001211820 rs730880071 RCV000157158 CA346268 |
126 | R>H | Long QT syndrome Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000651977 rs774544494 CA5520635 |
131 | A>V | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM3769157 rs763257801 RCV000688631 |
133 | T>M | pancreas Arrhythmogenic right ventricular dysplasia 13 [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs899335202 RCV000468380 CA16612931 |
138 | L>I | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs528701683 RCV001940826 RCV002331481 |
139 | A>V | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001315742 rs781595088 |
141 | M>V | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001896895 RCV003407928 rs769116433 |
142 | I>T | CTNNA3-related condition Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001373945 rs758058375 |
144 | V>A | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001360273 rs778800601 |
145 | M>V | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000866267 rs546550340 RCV002064533 |
150 | H>R | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001864215 rs368622093 RCV003164099 |
150 | H>Y | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000527206 rs756167695 CA5520618 RCV002525312 |
151 | V>G | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001699896 RCV003163794 rs1418212392 |
151 | V>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000157159 rs147116577 CA346270 RCV000786290 RCV000696692 |
153 | A>P | Primary familial hypertrophic cardiomyopathy Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001899259 rs1840000920 |
158 | F>S | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001594881 CA5520598 RCV000226862 RCV001699262 rs61749223 |
160 | S>T | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002334895 rs765439915 RCV001914448 |
165 | A>T | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001323296 rs1839999331 |
173 | T>A | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001235000 rs1839998542 |
181 | L>M | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001992981 rs755934798 |
191 | R>C | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5520579 rs373233387 RCV000229714 |
193 | Q>R | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001240119 rs777817815 RCV002357025 |
198 | P>T | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000208145 CA069016 rs755323657 RCV001342430 |
208 | R>* | Arrhythmogenic right ventricular dysplasia 13 Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002010216 rs369420715 RCV002361361 |
208 | R>Q | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs146441824 RCV002365725 RCV001058974 |
215 | S>F | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002016896 rs768170868 |
216 | P>S | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP |
|
RCV000539816 CA377095890 rs374834298 |
217 | L>F | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs371330302 RCV000685295 |
218 | L>F | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs1396052717 RCV003380730 RCV000805207 |
224 | A>P | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs747835139 RCV000693534 |
225 | C>F | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747835139 RCV001314386 |
225 | C>Y | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001933146 rs1342375122 |
228 | H>Y | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1277837578 RCV001236198 |
232 | A>P | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1232010222 RCV001060630 |
233 | S>F | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs367570454 RCV001411217 RCV001699786 RCV001724316 |
240 | T>A | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5520510 RCV000465693 rs192093851 |
248 | A>S | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1477830086 RCV001244591 RCV002393644 |
255 | A>V | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002568196 RCV002405222 RCV001531689 rs1864559262 |
256 | S>L | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002039652 RCV002545404 rs767234618 |
257 | Q>R | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002398062 RCV002006147 rs1485287209 |
258 | G>R | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001881396 rs2132264877 COSM1297369 |
260 | Q>* | urinary_tract Arrhythmogenic right ventricular dysplasia 13 [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar Ensembl dbSNP |
|
RCV003159927 RCV000552444 CA5520502 RCV001770477 rs190073606 |
260 | Q>R | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs151069922 RCV001936506 RCV002423078 |
265 | P>L | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199985402 RCV001220250 |
266 | P>S | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002041752 rs2132264737 |
267 | E>missing | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062709 rs143693772 RCV001700691 |
278 | D>N | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002447774 rs1385868561 RCV003099960 |
284 | I>T | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1554939194 RCV000533141 CA377097098 |
286 | L>M | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000477253 rs146475470 RCV002526421 CA5520459 |
294 | E>K | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM194758 COSM78923 rs771161312 COSM4179565 RCV001229751 RCV001700723 |
297 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000651971 CA209095557 rs970349800 |
302 | K>E | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001056748 rs747726450 RCV003160456 |
303 | R>C | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs543478300 RCV001927853 |
307 | I>F | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001321534 rs758173783 RCV003416205 |
312 | A>V | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000705963 rs1564948470 |
318 | S>P | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001947925 rs1862472784 |
319 | C>* | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs139460414 RCV002372749 RCV001036763 |
320 | T>M | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001061374 rs113836576 |
323 | L>I | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs369024617 RCV000791464 COSM2158957 |
325 | R>* | pancreas Arrhythmogenic right ventricular dysplasia 13 [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16613049 rs773609785 RCV000465051 |
325 | R>P | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3439690 RCV002386235 rs773609785 RCV000699847 COSM3439691 COSM3439689 |
325 | R>Q | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM5050277 RCV002002059 COSM136788 rs748583513 COSM136787 |
327 | R>Q | Variant assessed as Somatic; MODERATE impact. skin Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000545764 CA5520434 rs181929603 |
329 | I>T | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5520429 RCV000474693 rs146754105 RCV003409628 |
333 | N>K | CTNNA3-related condition Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM272551 RCV000815565 COSM4015180 rs1195868563 COSM272550 |
334 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM40001 rs375721994 RCV002022774 RCV002423236 COSM3439685 COSM427769 |
336 | R>C | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 breast Inborn genetic diseases [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs372482202 CA5520425 RCV000651973 COSM2158951 COSM4179562 COSM2158950 |
336 | R>H | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002421241 rs375721994 RCV001699712 |
336 | R>S | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs763229606 RCV001883071 |
338 | A>T | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs730880072 CA346272 RCV000157160 |
344 | S>L | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001888232 rs1351207870 |
354 | E>missing | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5520076 rs375610128 RCV000543388 |
355 | R>K | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001233068 rs751471841 |
358 | T>I | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000560482 RCV000208397 RCV000786291 CA079820 rs751471841 |
358 | T>N | Primary familial hypertrophic cardiomyopathy Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001049054 rs753966151 |
364 | D>G | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001927673 COSM160261 rs764419738 RCV003289207 |
365 | N>S | Arrhythmogenic right ventricular dysplasia 13 breast Inborn genetic diseases [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1840257862 RCV001068651 |
369 | K>* | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000468111 CA5520068 rs370981751 RCV002525578 |
374 | R>C | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001295694 rs1360269534 |
374 | R>H | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA5520044 RCV001081045 rs187752783 RCV000463164 |
378 | R>C | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs143682596 RCV001528590 CA5520043 RCV001700387 COSM1580754 RCV000475329 |
378 | R>H | Arrhythmogenic right ventricular dysplasia 13 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002023869 rs149348606 |
385 | V>A | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs772157953 RCV002030182 RCV002545318 |
391 | D>V | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM919560 COSM919561 RCV000549297 rs146777494 CA5520033 |
392 | T>M | Variant assessed as Somatic; MODERATE impact. endometrium Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000651976 CA377091980 COSM1348621 rs1554848924 |
395 | P>T | large_intestine Arrhythmogenic right ventricular dysplasia 13 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000704232 rs376091500 |
396 | L>V | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001751772 RCV001482702 rs145043626 |
398 | V>I | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001703178 RCV000474264 rs115276158 RCV001700388 CA5520026 |
399 | L>I | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1352266937 RCV001364919 |
402 | A>D | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001211961 rs369880246 |
407 | R>Q | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000807144 RCV003166263 rs138643733 |
407 | R>W | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000557271 CA377091876 rs1554848898 |
411 | I>M | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000205894 rs372808360 CA349996 RCV001753621 |
411 | I>V | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001891562 rs2132785561 COSM274693 COSM274694 |
414 | Y>C | Variant assessed as Somatic; MODERATE impact. large_intestine Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
rs1032740164 CA209049608 COSM1580751 COSM1580752 RCV000651975 |
416 | A>V | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 haematopoietic_and_lymphoid_tissue [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1292553472 RCV001237643 RCV003246794 |
419 | H>R | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001298696 rs770912324 |
428 | V>M | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001753622 rs377404952 CA348050 RCV000203767 |
435 | M>V | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001510805 rs545174357 RCV002384859 |
440 | D>N | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002031056 rs954678537 |
445 | V>A | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001893862 rs2132317654 |
449 | A>G | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001341473 RCV003169626 rs751206907 |
461 | N>S | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs151007312 RCV000688572 RCV003278995 |
468 | A>T | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201810511 RCV001759785 RCV001051864 COSM539366 COSM539365 |
474 | A>V | lung Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5519951 rs200182913 RCV000468927 |
484 | R>C | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM3666759 RCV000802741 COSM3666760 rs748621335 |
484 | R>H | liver Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001229242 rs200182913 |
484 | R>S | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5519949 rs140913916 RCV000463599 RCV001700189 RCV001529132 |
485 | T>S | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs746514516 RCV001936501 |
487 | E>K | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5519935 RCV000476436 rs147802834 |
503 | I>L | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs770318219 RCV000796488 |
503 | I>T | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000794194 rs1589162805 |
524 | A>G | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001969862 RCV002563413 rs369650158 |
525 | L>S | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs74141466 RCV001701468 RCV000886792 RCV001655640 |
529 | D>E | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA658657965 rs1554949356 RCV000550652 RCV001675929 |
529 | D>ES | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001700490 rs74141465 RCV000886761 RCV001615077 |
530 | A>S | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001725139 RCV001699082 RCV000228871 COSM3686820 CA5519886 VAR_062093 rs41274090 |
535 | R>C | large_intestine Arrhythmogenic right ventricular dysplasia 13 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3397209 rs139378888 COSM3397208 RCV000469975 CA5519884 |
535 | R>H | Variant assessed as Somatic; MODERATE impact. central_nervous_system Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs769674937 COSM5368813 COSM5368814 RCV000792851 |
537 | A>V | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001700690 RCV001046288 rs369033938 COSM427766 COSM427765 |
543 | R>Q | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1348618 RCV000537123 COSM1348619 rs372758887 CA5519878 |
543 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002002199 rs376250417 |
544 | A>T | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001359812 rs1302576659 |
549 | H>N | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs750835711 RCV001210255 |
551 | V>I | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001675907 COSM218280 CA5519868 rs61737718 RCV001700125 RCV000473941 |
552 | T>M | pancreas Arrhythmogenic right ventricular dysplasia 13 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001959250 rs371983729 RCV002388951 |
553 | G>C | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs768735520 CA5519863 RCV000651969 |
557 | S>G | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs538149393 RCV001063260 |
564 | T>M | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002032706 RCV001730219 rs375428912 |
574 | L>P | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2092816708 RCV001917117 |
575 | T>R | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001309222 RCV002402870 rs368000502 |
580 | P>L | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
rs769809500 COSM388930 RCV001248588 COSM388929 |
591 | E>K | lung Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1246325935 RCV001306507 |
592 | A>S | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001050842 rs2091475179 |
596 | S>N | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001699572 RCV001520451 VAR_053369 rs4548513 RCV001655779 |
596 | S>N | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000471849 CA16612824 RCV002411471 rs780346090 |
597 | S>L | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000687964 rs1564836430 |
607 | V>M | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001889384 rs138314889 |
608 | D>G | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs138314889 RCV000466574 CA5519809 |
608 | D>V | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001969775 rs774209973 RCV003418233 |
612 | K>N | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000549732 CA5519804 rs770893892 |
614 | Y>C | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs190239785 RCV000863312 |
617 | I>T | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2132158723 RCV001883868 |
617 | I>V | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs184992188 RCV001307838 |
618 | H>R | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM1579756 RCV000231702 CA5519796 RCV002411055 rs367616357 |
622 | C>Y | central_nervous_system Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001324712 rs755658279 |
627 | I>N | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5519789 rs754792055 RCV000476496 |
628 | R>Q | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM4532542 rs1060502222 RCV000461303 COSM4532541 CA16612820 |
632 | E>K | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000514836 rs77165728 RCV002411056 CA5519759 RCV000226671 |
634 | E>K | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs141141746 RCV001361508 |
643 | H>Y | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ESP ExAC dbSNP gnomAD |
|
rs370600208 RCV001363844 |
645 | V>L | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001759644 rs111425421 RCV003169093 RCV000861443 |
646 | R>C | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002413950 rs370269225 RCV001402285 |
646 | R>H | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16613112 RCV000470272 rs1060502223 |
650 | S>N | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003170364 rs768222263 RCV001995931 |
652 | Q>R | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5519726 RCV001700118 rs778640435 RCV000458918 RCV002418393 |
660 | A>V | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM6066669 RCV002546857 rs377166040 COSM539372 RCV001338985 COSM6066670 |
669 | E>V | lung Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar] | Yes |
cosmic curated NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1485903436 RCV002033477 |
673 | I>F | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001321750 rs1415628169 |
675 | E>K | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs142116698 RCV001341576 RCV003382539 |
681 | K>E | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC dbSNP gnomAD |
|
rs911988614 RCV001965931 |
682 | K>E | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002517391 rs199697536 RCV000208044 CA086338 |
685 | S>G | Primary dilated cardiomyopathy Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs774933459 RCV001437130 |
685 | S>N | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774933459 RCV001947495 |
685 | S>T | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001699530 rs150734357 RCV001303989 |
689 | A>V | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2080381322 RCV001338590 |
694 | W>R | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001204805 RCV001729812 rs570471424 RCV002418678 |
700 | D>N | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs758519231 RCV002416362 RCV001044547 |
706 | K>R | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs148554495 RCV002422706 RCV000795791 |
708 | M>V | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1171326311 RCV001053743 |
709 | C>W | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs1458100029 RCV001898386 |
709 | C>Y | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001957770 rs1055129880 |
712 | M>V | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001986785 rs2133326152 |
723 | G>R | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001973701 rs2078479556 |
725 | L>Q | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs192848934 RCV000796957 |
737 | M>I | Arrhythmogenic right ventricular dysplasia 13 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD NCI-TCGA |
|
RCV002041549 rs1011996986 |
748 | L>F | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002425255 rs149211186 RCV001923620 |
750 | R>W | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001935373 rs142752710 |
754 | N>H | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP |
|
rs760532002 RCV003163182 RCV000694573 |
760 | S>P | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs760532002 RCV001294257 |
760 | S>T | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000087057 RCV000487676 rs587777135 CA150596 |
766 | L>missing | Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs2077974257 RCV001062629 |
775 | Y>C | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001899050 rs2133257128 |
784 | Q>R | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000702469 rs758882774 |
790 | Q>E | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2133257020 RCV001733649 |
792 | L>P | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001759646 rs188248522 RCV000862202 |
793 | G>E | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs778606956 RCV002456473 RCV001338300 |
793 | G>R | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs530727340 RCV001495678 |
802 | D>Y | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000208198 CA351847 rs869025379 |
811 | A>missing | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1239218750 RCV001934514 |
819 | V>M | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001066421 rs753950562 |
828 | A>T | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs376310020 RCV001211338 |
832 | I>F | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs202196166 RCV000157161 COSM919544 CA346274 COSM919545 |
834 | R>* | Variant assessed as Somatic; HIGH impact. Primary familial hypertrophic cardiomyopathy endometrium prostate [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs373081692 RCV000801427 |
834 | R>L | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM2158702 CA5519565 COSM2158703 rs373081692 RCV000462129 |
834 | R>Q | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001067744 rs780903815 |
842 | R>Q | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001756098 RCV002458145 RCV000651974 CA5519561 rs199852825 |
842 | R>W | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs540211204 RCV000458279 CA16612923 |
843 | H>R | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs2077066633 RCV001230025 |
844 | P>A | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003160376 RCV001048486 rs1391961462 |
847 | M>T | Arrhythmogenic right ventricular dysplasia 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001326976 rs138237676 |
850 | M>I | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs778712224 RCV001809182 |
852 | A>S | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001886118 rs2133105906 COSM145284 |
855 | K>E | Arrhythmogenic right ventricular dysplasia 13 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar Ensembl dbSNP |
|
rs759618368 RCV002276252 |
856 | K>missing | Malignant tumor of urinary bladder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218397 rs759618368 |
857 | P>missing | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000143876 rs587782935 CA345780 |
857 | P>* | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA345781 rs41313840 RCV001087086 RCV000865327 RCV000143877 |
858 | L>S | Primary dilated cardiomyopathy Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs766896063 COSM684708 RCV001044930 COSM684707 |
859 | I>F | lung Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1375445904 RCV001983222 |
861 | R>T | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs730880073 RCV000157162 CA346276 RCV002516352 |
863 | K>missing | Arrhythmogenic right ventricular dysplasia 13 Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1564515685 RCV001313006 |
863 | K>N | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001957801 TCGA novel rs775103016 |
872 | R>S | Variant assessed as Somatic; MODERATE impact. Arrhythmogenic right ventricular dysplasia 13 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001048818 rs761449098 |
873 | R>* | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs781167292 CA5519533 RCV000651970 |
877 | K>T | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5519531 RCV000457164 rs761152565 RCV001529490 |
880 | I>missing | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001935309 rs1426521596 |
895 | Y>C | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2077062157 RCV001341094 |
896 | Y>R | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2133105135 RCV002043234 |
896 | Y>W | Arrhythmogenic right ventricular dysplasia 13 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| rs1839753726 | 3 | A>V | No | Ensembl | |
| rs758324952 | 5 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs1318948173 | 5 | T>S | No | gnomAD | |
| rs756147614 | 6 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs767780484 | 8 | T>A | No |
ExAC gnomAD |
|
| rs767780484 | 8 | T>P | No |
ExAC gnomAD |
|
| rs730880069 | 12 | D>G | No |
ExAC gnomAD |
|
|
COSM684640 COSM684639 COSM4862241 |
13 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1839752113 | 13 | P>T | No | Ensembl | |
|
COSM6130210 COSM6130211 COSM6130212 |
14 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1839751702 | 15 | D>G | No | TOPMed | |
| rs866862500 | 15 | D>N | No | Ensembl | |
| rs866153540 | 19 | Q>E | No | Ensembl | |
| rs763372062 | 20 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs1589530511 | 22 | T>I | No | Ensembl | |
| rs1589530516 | 22 | T>P | No | Ensembl | |
| rs990561908 | 23 | V>G | No | TOPMed | |
| rs760360009 | 24 | E>D | No |
ExAC gnomAD |
|
| rs2133482109 | 24 | E>Q | No | Ensembl | |
| rs375607074 | 25 | K>E | No |
ExAC gnomAD |
|
|
COSM4826893 COSM4826892 COSM4826891 |
30 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs745825183 | 31 | I>K | No |
ExAC TOPMed gnomAD |
|
| rs1383577407 | 31 | I>V | No | gnomAD | |
| rs868553037 | 35 | T>I | No | gnomAD | |
| rs868553037 | 35 | T>N | No | gnomAD | |
| rs775169307 | 40 | C>R | No |
ExAC gnomAD |
|
| rs759426077 | 44 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs759426077 | 44 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs774104442 | 45 | S>F | No |
ExAC gnomAD |
|
| rs774104442 | 45 | S>Y | No |
ExAC gnomAD |
|
| TCGA novel | 46 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1478568829 | 46 | S>R | No |
TOPMed gnomAD |
|
| rs1843300475 | 47 | R>G | No | gnomAD | |
| rs1843300176 | 48 | K>R | No |
TOPMed gnomAD |
|
| rs1188956780 | 49 | K>N | No | gnomAD | |
|
rs770925969 COSM3439728 COSM3439727 COSM3439726 |
50 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1168458176 | 50 | G>V | No |
TOPMed gnomAD |
|
| rs143725018 | 51 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
| rs749212121 | 51 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs200409596 | 54 | R>G | No | 1000Genomes | |
| rs377158111 | 54 | R>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1031181511 | 55 | A>P | No | Ensembl | |
| rs758513840 | 55 | A>V | No |
ExAC gnomAD |
|
| rs772676831 | 56 | S>C | No | Ensembl | |
| rs1227431841 | 56 | S>N | No | TOPMed | |
| rs772676831 | 56 | S>R | No | Ensembl | |
| rs999207325 | 57 | V>D | No |
TOPMed gnomAD |
|
| rs967718844 | 58 | L>F | No | Ensembl | |
| rs779408195 | 62 | V>L | No |
ExAC gnomAD |
|
| rs375304070 | 63 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs1046535251 | 63 | E>Q | No |
TOPMed gnomAD |
|
| rs1440889284 | 64 | E>K | No | gnomAD | |
| rs948340077 | 68 | N>Y | No | TOPMed | |
| rs10997754 | 71 | D>H | No |
ExAC gnomAD |
|
| rs10997754 | 71 | D>N | No |
ExAC gnomAD |
|
|
rs141436901 COSM108786 |
73 | G>E | skin [Cosmic] | No |
cosmic curated Ensembl |
|
COSM3439725 COSM3439724 rs752125801 COSM3439723 |
73 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| TCGA novel | 75 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs767239996 | 75 | K>Q | No | ExAC | |
| rs1188296123 | 75 | K>R | No |
TOPMed gnomAD |
|
| rs768975895 | 76 | I>T | No | TOPMed | |
| rs1843296303 | 77 | A>S | No | TOPMed | |
| rs1843295980 | 79 | E>G | No | Ensembl | |
| rs1410123618 | 80 | A>V | No | gnomAD | |
| rs1470581978 | 82 | V>G | No | gnomAD | |
| rs1843295535 | 84 | K>E | No | Ensembl | |
| rs766107484 | 85 | D>G | No |
ExAC gnomAD |
|
|
COSM4015190 COSM4015191 COSM4015192 rs1336450383 |
88 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1216014265 | 88 | T>S | No | gnomAD | |
| rs2133379261 | 89 | A>V | No | Ensembl | |
| rs1373463001 | 91 | L>F | No | gnomAD | |
| rs1160444067 | 91 | L>R | No | gnomAD | |
| rs769594143 | 92 | E>D | No |
ExAC gnomAD |
|
| rs747148597 | 93 | E>A | No |
ExAC gnomAD |
|
|
COSM3439722 COSM3439721 COSM3439720 |
93 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs775423894 | 94 | V>I | No |
ExAC gnomAD |
|
| rs746030160 | 95 | R>G | No |
ExAC gnomAD |
|
|
rs779423519 COSM1675301 COSM1675300 COSM4179586 |
95 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs746030160 | 95 | R>S | No |
ExAC gnomAD |
|
| rs1843292839 | 97 | E>G | No | Ensembl | |
| rs757654295 | 97 | E>Q | No |
ExAC gnomAD |
|
|
COSM6066655 COSM6066653 COSM6066654 |
98 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1398085628 | 98 | S>R | No | TOPMed | |
| rs1840607936 | 100 | A>V | No | gnomAD | |
| rs1187527574 | 106 | E>D | No | gnomAD | |
| rs1485989712 | 107 | R>G | No | gnomAD | |
|
COSM684641 COSM684642 COSM4860996 |
109 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1208075938 | 110 | D>E | No | gnomAD | |
| rs1840606276 | 110 | D>H | No | TOPMed | |
| rs1840606000 | 111 | D>E | No | Ensembl | |
| rs772304193 | 114 | F>L | No | Ensembl | |
| rs1259672705 | 115 | L>H | No | gnomAD | |
| rs758206226 | 116 | P>R | No | Ensembl | |
|
COSM3439718 COSM3439719 COSM3439717 |
116 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1271841154 | 117 | K>E | No | TOPMed | |
| rs570159272 | 118 | R>K | No |
1000Genomes ExAC gnomAD |
|
| rs1294570808 | 120 | A>P | No | gnomAD | |
| rs1294570808 | 120 | A>T | No | gnomAD | |
| rs1840603870 | 121 | V>M | No | TOPMed | |
| rs1214983162 | 122 | V>F | No | gnomAD | |
| rs1214983162 | 122 | V>I | No | gnomAD | |
| rs373661106 | 126 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 127 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1840602429 | 127 | A>S | No | gnomAD | |
| rs767656928 | 128 | L>F | No |
ExAC gnomAD |
|
| rs1270069740 | 129 | L>R | No |
TOPMed gnomAD |
|
| rs1430719057 | 130 | A>P | No |
TOPMed gnomAD |
|
|
COSM3439716 COSM3439714 COSM3439715 |
132 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs763257801 | 133 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1162153605 | 135 | L>F | No |
TOPMed gnomAD |
|
| rs1840599379 | 140 | D>G | No | gnomAD | |
|
COSM4934843 COSM4934842 COSM4934841 |
140 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1380304018 | 141 | M>T | No | TOPMed | |
| rs1564725287 | 142 | I>V | No | Ensembl | |
| rs1326982117 | 143 | D>A | No |
TOPMed gnomAD |
|
| TCGA novel | 143 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1356399691 | 143 | D>N | No | gnomAD | |
| rs779523400 | 144 | V>I | No |
ExAC gnomAD |
|
| rs753646671 | 145 | M>I | No |
ExAC gnomAD |
|
| rs778800601 | 145 | M>L | No |
ExAC gnomAD |
|
| rs756952222 | 145 | M>T | No |
ExAC gnomAD |
|
| rs1564725231 | 146 | C>F | No | Ensembl | |
| rs756167695 | 151 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs756167695 | 151 | V>E | No |
ExAC TOPMed gnomAD |
|
| rs374067925 | 154 | F>L | No |
ESP ExAC gnomAD |
|
| rs1260265238 | 154 | F>S | No |
TOPMed gnomAD |
|
| rs1027475022 | 156 | R>G | No |
TOPMed gnomAD |
|
| rs2133159598 | 156 | R>M | No | Ensembl | |
| rs1362721317 | 157 | T>A | No | gnomAD | |
| rs777698832 | 157 | T>I | No |
ExAC gnomAD |
|
|
COSM1348648 COSM1348647 rs994693264 COSM4785608 |
159 | E>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs756135810 | 159 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs756135810 | 159 | E>Q | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 160 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750482501 | 162 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1349978371 | 165 | A>D | No | gnomAD | |
| rs1424951786 | 166 | N>Y | No |
TOPMed gnomAD |
|
|
COSM3867632 COSM3867631 COSM3867630 |
168 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1261377145 | 168 | S>Y | No |
TOPMed gnomAD |
|
| rs1839999811 | 169 | D>H | No | Ensembl | |
| rs762079013 | 170 | L>F | No |
ExAC gnomAD |
|
|
COSM3867629 COSM3867628 COSM3867627 |
171 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776870246 | 171 | Q>R | No |
ExAC gnomAD |
|
| rs1303339384 | 172 | K>Q | No |
TOPMed gnomAD |
|
|
COSM1348646 COSM1348645 COSM4784929 |
174 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs775927425 | 175 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs775927425 | 175 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs1839998869 | 178 | G>E | No |
TOPMed gnomAD |
|
| rs772545551 | 178 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1320572500 | 180 | E>K | No |
TOPMed gnomAD |
|
|
COSM1321260 COSM1321259 |
180 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM919603 COSM4865746 COSM919602 |
182 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1404927786 | 182 | E>G | No |
TOPMed gnomAD |
|
|
COSM4551952 COSM4551950 COSM4551951 |
182 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1393142163 | 185 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM3439708 COSM3439709 COSM3439710 |
185 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748914189 | 186 | Y>F | No |
ExAC gnomAD |
|
| rs777718965 | 188 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1839997807 | 188 | A>V | No |
TOPMed gnomAD |
|
| rs748122512 | 191 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs576347698 | 192 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA |
| rs373233387 | 193 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM4821713 COSM458805 COSM458804 |
194 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780086219 | 194 | D>N | No |
ExAC gnomAD |
|
| rs749436252 | 196 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1864570148 | 196 | K>I | No | Ensembl | |
| rs1240621647 | 197 | S>F | No | gnomAD | |
| rs777817815 | 198 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1445037588 | 199 | N>D | No |
TOPMed gnomAD |
|
| rs1445037588 | 199 | N>H | No |
TOPMed gnomAD |
|
|
COSM4823469 rs372957321 COSM4823467 COSM4823468 |
201 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA gnomAD |
| rs138821753 | 202 | D>G | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 202 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781443618 | 203 | E>* | No |
ExAC gnomAD |
|
|
COSM684648 COSM684647 COSM4861205 |
203 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1281516170 | 204 | I>T | No |
TOPMed gnomAD |
|
| rs2132265699 | 205 | A>V | No | Ensembl | |
| rs866695575 | 206 | G>R | No | Ensembl | |
| rs891111244 | 207 | A>D | No | TOPMed | |
| rs1263441648 | 207 | A>S | No |
TOPMed gnomAD |
|
| rs1263441648 | 207 | A>T | No |
TOPMed gnomAD |
|
| rs369420715 | 208 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1438389311 | 209 | A>D | No | gnomAD | |
| rs1589880418 | 209 | A>P | No | Ensembl | |
| TCGA novel | 212 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1864567631 | 212 | K>R | No | Ensembl | |
| rs749964009 | 213 | E>K | No |
ExAC gnomAD |
|
| rs761587201 | 214 | N>K | No |
ExAC gnomAD |
|
| rs754525958 | 214 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs754525958 | 214 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs146441824 | 215 | S>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1564984998 | 216 | P>H | No | gnomAD | |
|
COSM1474707 COSM4813960 COSM1474708 |
217 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs374834298 | 217 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1399296498 | 219 | H>L | No |
TOPMed gnomAD |
|
| rs1399296498 | 219 | H>R | No |
TOPMed gnomAD |
|
| rs1300493690 | 222 | C>Y | No | TOPMed | |
| rs978578575 | 224 | A>G | No |
TOPMed gnomAD |
|
| rs1396052717 | 224 | A>T | No |
TOPMed gnomAD |
|
| rs769826378 | 227 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs748395076 | 228 | H>R | No |
ExAC gnomAD |
|
|
COSM4820486 COSM458806 COSM458807 |
229 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1287992680 | 230 | D>A | No | gnomAD | |
| TCGA novel | 230 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1864564059 | 230 | D>N | No | Ensembl | |
| rs1287992680 | 230 | D>V | No | gnomAD | |
| rs1864563715 | 231 | V>I | No | Ensembl | |
| TCGA novel | 236 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781528718 | 236 | A>P | No |
ExAC gnomAD |
|
|
TCGA novel rs1864563005 |
236 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs545240214 | 237 | S>N | No |
1000Genomes ExAC gnomAD |
|
| rs957428127 | 238 | K>R | No | gnomAD | |
| rs2132265197 | 239 | D>E | No | Ensembl | |
|
rs1360112371 COSM3439702 COSM3439704 COSM3439703 |
239 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1564984796 | 239 | D>V | No | Ensembl | |
| rs1400650765 | 240 | T>I | No |
TOPMed gnomAD |
|
| rs540006729 | 241 | V>A | No |
ExAC gnomAD |
|
|
COSM1702566 COSM1702565 COSM3439701 |
241 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1864561900 | 241 | V>L | No | gnomAD | |
| rs1864561625 | 242 | C>W | No | TOPMed | |
| rs750916762 | 244 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs764859315 | 245 | I>T | No |
ExAC gnomAD |
|
| rs867453767 | 246 | Q>* | No | Ensembl | |
| rs966492241 | 246 | Q>R | No | Ensembl | |
| rs146048212 | 249 | L>P | No |
1000Genomes ExAC gnomAD |
|
| rs372717475 | 250 | N>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs372717475 | 250 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs760230286 | 251 | V>A | No |
ExAC gnomAD |
|
| rs1422325591 | 251 | V>I | No | Ensembl | |
| rs368470427 | 254 | N>D | No |
ESP TOPMed gnomAD |
|
| rs1185577098 | 254 | N>S | No | gnomAD | |
| rs1864559673 | 255 | A>S | No |
TOPMed gnomAD |
|
| rs1864558915 | 257 | Q>* | No |
TOPMed gnomAD |
|
| rs1864558915 | 257 | Q>E | No |
TOPMed gnomAD |
|
| rs1797181113 | 258 | G>E | No | Ensembl | |
| rs768531952 | 260 | Q>H | No | Ensembl | |
|
rs1864557693 TCGA novel |
262 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs749275132 | 263 | T>A | No |
TOPMed gnomAD |
|
| rs776573248 | 265 | P>S | No |
ExAC gnomAD |
|
|
COSM1348641 COSM1348642 COSM4783572 |
265 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs199985402 | 266 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs1380464983 | 266 | P>L | No | gnomAD | |
| rs1305143351 | 267 | E>A | No | gnomAD | |
| rs1305143351 | 267 | E>V | No | gnomAD | |
| rs1434297913 | 269 | Q>E | No |
TOPMed gnomAD |
|
|
COSM6066657 COSM6066658 COSM6066656 |
269 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs368027975 | 270 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs368027975 | 270 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs368027975 | 270 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1589879917 | 272 | T>I | No | Ensembl | |
| rs1589879917 | 272 | T>N | No | Ensembl | |
| rs757834109 | 275 | S>G | No |
ExAC gnomAD |
|
| rs1404682914 | 275 | S>I | No |
TOPMed gnomAD |
|
| rs988892509 | 283 | L>V | No |
TOPMed gnomAD |
|
| rs1431076048 | 284 | I>V | No | gnomAD | |
| rs750275823 | 285 | V>A | No |
ExAC gnomAD |
|
| rs984589175 | 285 | V>I | No | Ensembl | |
| rs375250429 | 289 | L>P | No | Ensembl | |
| rs775706157 | 290 | T>I | No |
ExAC gnomAD |
|
| rs1393022888 | 292 | T>S | No | gnomAD | |
|
COSM3867625 COSM3867626 COSM3867624 |
295 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1862480046 | 296 | I>K | No | Ensembl | |
| rs1452373862 | 296 | I>M | No |
TOPMed gnomAD |
|
| rs201596778 | 297 | R>P | No |
1000Genomes ExAC gnomAD |
|
| rs201596778 | 297 | R>Q | No |
1000Genomes ExAC gnomAD |
|
|
rs1287288566 RCV001723266 |
298 | P>A | No |
ClinVar dbSNP gnomAD |
|
|
COSM4015181 COSM4015182 COSM4015183 |
298 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1287288566 | 298 | P>T | No | gnomAD | |
| rs1399552958 | 300 | L>P | No |
TOPMed gnomAD |
|
| rs1303086230 | 301 | E>G | No |
TOPMed gnomAD |
|
| rs780671006 | 303 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs780671006 | 303 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1385789482 | 305 | E>Q | No | gnomAD | |
| rs754642444 | 306 | A>V | No |
ExAC gnomAD |
|
| rs543478300 | 307 | I>L | No |
1000Genomes ExAC gnomAD |
|
| rs1862476122 | 307 | I>N | No |
TOPMed gnomAD |
|
| rs1303223744 | 308 | I>M | No | TOPMed | |
| TCGA novel | 308 | I>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 309 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1862475564 | 310 | G>R | No | Ensembl | |
| rs1862475357 | 310 | G>V | No |
TOPMed gnomAD |
|
| rs574794092 | 315 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs2132138021 RCV001726817 |
316 | D>missing | No |
ClinVar dbSNP |
|
| rs1171759426 | 316 | D>G | No | gnomAD | |
|
COSM3439692 COSM3439694 COSM3439693 |
316 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1377144617 | 316 | D>Y | No |
TOPMed gnomAD |
|
|
COSM268961 COSM268962 |
317 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1478247274 | 317 | S>Y | No | gnomAD | |
| rs761795009 | 319 | C>R | No |
ExAC TOPMed gnomAD |
|
| rs554639014 | 319 | C>Y | No |
1000Genomes ExAC gnomAD |
|
| rs1263985923 | 320 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs759869710 | 321 | R>G | No |
ExAC gnomAD |
|
|
COSM4896744 COSM4896743 COSM4896745 |
321 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774667390 | 322 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs1310974448 | 322 | D>N | No | Ensembl | |
| TCGA novel | 323 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000994410 rs1212779512 |
324 | H>missing | No |
ClinVar dbSNP |
|
| rs1862470838 | 324 | H>Q | No | TOPMed | |
| rs766602472 | 324 | H>R | No | ExAC | |
| rs770268115 | 327 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1862469037 | 328 | I>S | No | TOPMed | |
| rs374713975 | 328 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs768118432 | 329 | I>F | No |
ExAC gnomAD |
|
| rs758057945 | 330 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs758057945 | 330 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1359321241 | 330 | A>V | No |
TOPMed gnomAD |
|
| rs1862467383 | 331 | E>G | No | Ensembl | |
|
COSM919598 COSM919599 COSM4868506 |
331 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1400603614 | 333 | N>S | No |
TOPMed gnomAD |
|
| rs745718658 | 333 | N>Y | No |
ExAC gnomAD |
|
| rs1862465973 | 334 | A>V | No |
TOPMed gnomAD |
|
| rs1237341384 | 335 | I>M | No | gnomAD | |
| rs370088870 | 335 | I>V | No |
ESP ExAC gnomAD |
|
| rs372482202 | 336 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs372482202 | 336 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1862464574 | 337 | Q>* | No |
TOPMed gnomAD |
|
| rs1198458860 | 338 | A>G | No | gnomAD | |
| rs763229606 | 338 | A>P | No |
ExAC TOPMed gnomAD |
|
|
COSM3867620 COSM3867619 COSM3867618 rs773449797 |
340 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs773449797 | 340 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs773449797 | 340 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs1589829517 | 341 | D>G | No | Ensembl | |
| rs765576079 | 342 | L>V | No |
ExAC gnomAD |
|
| rs1589829504 | 343 | L>F | No | Ensembl | |
| rs368211074 | 345 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3439684 COSM3439683 COSM3439682 |
345 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs143203517 | 346 | Y>H | No |
ESP ExAC gnomAD |
|
| rs143203517 | 346 | Y>N | No |
ESP ExAC gnomAD |
|
| rs1448657696 | 347 | M>I | No | gnomAD | |
| rs1862461338 | 347 | M>T | No | Ensembl | |
| rs1283469295 | 347 | M>V | No | gnomAD | |
| rs1342269023 | 348 | N>H | No | gnomAD | |
| TCGA novel | 349 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755758752 | 350 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs755758752 | 350 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs755758752 | 350 | A>T | No |
ExAC TOPMed gnomAD |
|
|
COSM4015161 COSM4015160 |
351 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3439654 COSM3439655 |
351 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs141978685 | 352 | K>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs868833898 | 352 | K>N | No | gnomAD | |
| rs141978685 | 352 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1348623 COSM1348622 |
354 | E>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1351207870 | 354 | E>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM539360 COSM539359 |
355 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1456412824 | 355 | R>S | No | gnomAD | |
| rs1388725820 | 356 | S>N | No | gnomAD | |
| rs779821961 | 360 | N>D | No |
ExAC gnomAD |
|
| rs1589241393 | 360 | N>I | No |
TOPMed gnomAD |
|
| rs1589241393 | 360 | N>S | No |
TOPMed gnomAD |
|
| rs1428521500 | 362 | A>S | No | gnomAD | |
| rs757473491 | 362 | A>V | No |
ExAC gnomAD |
|
|
COSM4015158 COSM4015159 |
363 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1589241353 | 364 | D>E | No | Ensembl | |
| rs767884368 | 366 | M>I | No |
ExAC gnomAD |
|
| rs201966934 | 366 | M>T | No |
1000Genomes ExAC gnomAD |
|
| rs1465563664 | 366 | M>V | No |
TOPMed gnomAD |
|
| rs1323405727 | 367 | C>F | No |
TOPMed gnomAD |
|
| rs1840258275 | 367 | C>R | No | Ensembl | |
| rs1323405727 | 367 | C>Y | No |
TOPMed gnomAD |
|
|
COSM919564 COSM919565 |
369 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 369 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752434472 | 372 | D>E | No |
TOPMed gnomAD |
|
| TCGA novel | 372 | D>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1279977520 | 373 | L>F | No | gnomAD | |
| rs1840256870 | 375 | R>G | No | TOPMed | |
| rs1840256688 | 375 | R>K | No |
TOPMed gnomAD |
|
|
COSM1202587 rs927977047 |
376 | Q>* | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
| TCGA novel | 376 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772731501 | 380 | A>P | No |
ExAC gnomAD |
|
| rs772731501 | 380 | A>T | No |
ExAC gnomAD |
|
| rs918650426 | 381 | I>V | No | gnomAD | |
|
COSM684673 COSM684674 rs1312731220 |
382 | I>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
rs1839857854 COSM919562 COSM919563 |
382 | I>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1312731220 | 382 | I>V | No | gnomAD | |
| rs550275422 | 383 | D>Y | No |
1000Genomes ExAC gnomAD |
|
| rs1265408897 | 384 | H>N | No | TOPMed | |
| rs1265408897 | 384 | H>Y | No | TOPMed | |
| rs768191469 | 386 | S>L | No |
ExAC gnomAD |
|
|
COSM1236632 COSM1236633 |
387 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs746826870 | 387 | D>G | No |
ExAC gnomAD |
|
| rs1839856705 | 388 | S>P | No | gnomAD | |
| TCGA novel | 389 | F>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745764683 | 392 | T>A | No |
ExAC gnomAD |
|
| rs146777494 | 392 | T>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1183531701 | 394 | V>I | No | gnomAD | |
| rs751931703 | 397 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1839853537 | 399 | L>P | No | gnomAD | |
| rs374015031 | 400 | I>L | No |
ESP ExAC gnomAD |
|
| rs201896157 | 400 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs374015031 | 400 | I>V | No |
ESP ExAC gnomAD |
|
| rs1175979166 | 402 | A>T | No | Ensembl | |
| rs1352266937 | 402 | A>V | No |
TOPMed gnomAD |
|
| rs1839852265 | 403 | A>G | No | Ensembl | |
| rs761572470 | 406 | G>D | No | TOPMed | |
| rs761572470 | 406 | G>V | No | TOPMed | |
|
COSM1249404 rs369880246 |
407 | R>L | oesophagus [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs1160021662 | 408 | E>G | No | gnomAD | |
|
COSM3439651 COSM3439650 rs1387982830 |
408 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1295397875 | 409 | K>R | No |
TOPMed gnomAD |
|
|
COSM3439648 COSM3439649 |
410 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
TCGA novel rs1839850583 |
411 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 413 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1427857068 | 413 | E>K | No | gnomAD | |
| rs1290167373 | 413 | E>V | No |
TOPMed gnomAD |
|
| rs1839849767 | 415 | A>V | No | TOPMed | |
| rs1269961245 | 416 | A>T | No |
TOPMed gnomAD |
|
|
rs1000274422 RCV001528950 |
417 | I>M | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1839849143 | 417 | I>V | No | Ensembl | |
| rs1483045409 | 418 | F>I | No | Ensembl | |
| rs1292553472 | 419 | H>L | No |
TOPMed gnomAD |
|
|
COSM5443580 COSM5443579 |
419 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 420 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1208814135 | 420 | E>Q | No |
TOPMed gnomAD |
|
| rs1418585138 | 421 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
COSM1321262 COSM1321261 |
422 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1331080432 | 422 | T>S | No | gnomAD | |
| rs1261200629 | 423 | S>N | No | gnomAD | |
| rs1839847987 | 424 | R>K | No |
TOPMed gnomAD |
|
|
COSM6066668 COSM6066667 |
424 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1214850789 | 425 | L>F | No |
TOPMed gnomAD |
|
| rs1839847629 | 425 | L>P | No | gnomAD | |
| rs576608598 | 426 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs576608598 | 426 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1296769273 | 428 | V>G | No |
TOPMed gnomAD |
|
| rs749128405 | 429 | A>E | No | ExAC | |
| rs866549851 | 429 | A>T | No | gnomAD | |
| rs749128405 | 429 | A>V | No | ExAC | |
| TCGA novel | 430 | N>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1391220282 | 431 | L>F | No |
TOPMed gnomAD |
|
| rs1391220282 | 431 | L>I | No |
TOPMed gnomAD |
|
| rs1844759684 | 432 | A>T | No | Ensembl | |
| rs776799284 | 432 | A>V | No |
ExAC gnomAD |
|
| rs1451007220 | 433 | C>W | No |
TOPMed gnomAD |
|
|
COSM3439647 rs747068282 COSM3439646 |
434 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs768657659 | 434 | S>P | No |
ExAC gnomAD |
|
| rs369650832 | 435 | M>T | No |
ESP ExAC |
|
|
COSM1321265 COSM1321266 rs746246837 |
437 | T>A | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs1482590647 | 438 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1182285759 | 440 | D>V | No | Ensembl | |
| TCGA novel | 441 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754346518 | 442 | I>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 443 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3439644 COSM3439645 |
445 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778324624 | 446 | K>R | No |
ExAC gnomAD |
|
| rs755746152 | 447 | I>T | No | ExAC | |
| rs1480767110 | 448 | A>S | No | gnomAD | |
| rs1245650358 | 448 | A>V | No | gnomAD | |
| rs749493440 | 449 | A>P | No |
ExAC gnomAD |
|
|
COSM4617035 rs749493440 COSM4617034 |
449 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs767280342 | 450 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs1844757192 | 451 | H>R | No | Ensembl | |
|
RCV001699910 rs1844757301 |
451 | H>Y | No |
ClinVar dbSNP gnomAD |
|
| rs1409791712 | 454 | T>I | No |
TOPMed gnomAD |
|
| rs1409791712 | 454 | T>N | No |
TOPMed gnomAD |
|
| rs1409791712 | 454 | T>S | No |
TOPMed gnomAD |
|
| rs1844756512 | 456 | C>W | No | TOPMed | |
| rs1805837144 | 456 | C>Y | No | Ensembl | |
| rs1359151824 | 457 | P>L | No |
TOPMed gnomAD |
|
|
COSM1297358 COSM1297359 |
457 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs759203141 | 458 | Q>H | No |
ExAC gnomAD |
|
| rs1844756161 | 458 | Q>R | No | Ensembl | |
| rs1841037163 | 461 | N>D | No | TOPMed | |
| rs762714404 | 462 | A>T | No |
ExAC gnomAD |
|
| rs1841036615 | 462 | A>V | No | TOPMed | |
| rs367599520 | 464 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM334965 rs367599520 |
464 | L>I | lung [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs367599520 | 464 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1436674216 | 465 | A>P | No |
TOPMed gnomAD |
|
| TCGA novel | 465 | A>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1372726655 | 467 | A>S | No |
TOPMed gnomAD |
|
| TCGA novel | 469 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM6130224 COSM6130223 |
469 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 470 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1217625718 | 472 | S>I | No | gnomAD | |
| rs763245505 | 472 | S>R | No | ExAC | |
| rs1433741415 | 473 | Q>L | No | gnomAD | |
| rs772179026 | 475 | V>A | No |
ExAC gnomAD |
|
| rs1841034429 | 475 | V>F | No | Ensembl | |
| rs759642999 | 476 | K>R | No |
ExAC gnomAD |
|
| rs774499271 | 477 | N>K | No |
ExAC gnomAD |
|
| rs1479107216 | 477 | N>S | No | gnomAD | |
|
COSM684678 COSM684677 |
478 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1250057122 | 479 | M>I | No | gnomAD | |
| rs771182445 | 479 | M>L | No |
ExAC gnomAD |
|
| rs749621845 | 480 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs866472317 | 480 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1841032825 | 482 | Y>C | No | Ensembl | |
| rs200282168 | 483 | K>M | No |
TOPMed gnomAD |
|
| rs773564741 | 483 | K>N | No |
ExAC gnomAD |
|
| rs1841032432 | 483 | K>Q | No | TOPMed | |
| rs200282168 | 483 | K>R | No |
TOPMed gnomAD |
|
| rs140913916 | 485 | T>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1841030729 | 486 | W>* | No | TOPMed | |
| rs1589369924 | 487 | E>A | No | Ensembl | |
| rs923533400 | 488 | N>D | No | TOPMed | |
|
rs1841029975 COSM684680 COSM684679 |
489 | H>D | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
|
COSM3439643 COSM3439642 |
489 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs757015764 | 490 | I>M | No |
ExAC gnomAD |
|
| rs764978430 | 490 | I>R | No |
ExAC TOPMed gnomAD |
|
| rs764978430 | 490 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs201173778 | 491 | H>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs2132020973 COSM361500 |
491 | H>Y | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs759604856 | 493 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs2132020890 | 495 | E>D | No | Ensembl | |
|
COSM1702555 COSM1702556 rs1392043478 |
495 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs368067642 | 497 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA gnomAD |
| rs1212915698 | 500 | I>V | No | gnomAD | |
| rs1482259667 | 501 | T>A | No | gnomAD | |
| rs1841027821 | 504 | D>G | No |
TOPMed gnomAD |
|
| rs748498333 | 504 | D>N | No |
ExAC gnomAD |
|
|
COSM919558 COSM919559 |
507 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777334704 | 508 | A>D | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 509 | V>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769200890 | 509 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs769200890 | 509 | V>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 510 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1487959891 | 512 | S>N | No |
TOPMed gnomAD |
|
| rs2132489175 | 513 | H>R | No | Ensembl | |
| rs780966240 | 515 | L>V | No |
ExAC TOPMed |
|
|
COSM5596547 COSM5596548 |
516 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs373151978 | 517 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs2092819165 | 517 | D>V | No | TOPMed | |
| rs373151978 | 517 | D>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs765560825 | 520 | K>M | No | ExAC | |
| rs144269113 | 520 | K>Q | No |
ESP ExAC gnomAD |
|
| rs1228977390 | 521 | C>R | No | gnomAD | |
| rs2092819005 | 521 | C>Y | No | TOPMed | |
| rs762067610 | 523 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs868277987 | 523 | I>V | No | Ensembl | |
| rs754275515 | 524 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs754275515 | 524 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1388048882 | 527 | D>G | No | gnomAD | |
| rs1432962825 | 527 | D>N | No |
TOPMed gnomAD |
|
| rs760926013 | 528 | Q>* | No |
ExAC TOPMed gnomAD |
|
|
COSM684681 COSM684682 |
528 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1455857081 | 528 | Q>L | No | gnomAD | |
| rs1455857081 | 528 | Q>P | No | gnomAD | |
|
COSM4394760 COSM4394761 |
529 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs74141465 | 530 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs2132488875 COSM1702554 COSM1702553 |
531 | D>N | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
|
COSM3686821 rs1465548074 COSM3686822 |
532 | N>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
TCGA novel rs2092818573 |
532 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs759055402 | 534 | D>A | No |
ExAC TOPMed gnomAD |
|
| rs944251391 | 534 | D>N | No | Ensembl | |
| rs139378888 | 535 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs41274090 | 535 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1261675298 | 536 | A>D | No | TOPMed | |
|
COSM6130226 COSM6130225 |
536 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs781257513 | 538 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2092818239 | 538 | G>V | No | gnomAD | |
| rs2092818160 | 540 | I>T | No |
TOPMed gnomAD |
|
| rs2092818181 | 540 | I>V | No | TOPMed | |
| rs1357394676 | 541 | R>G | No | Ensembl | |
| TCGA novel | 541 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754896598 | 542 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs754896598 | 542 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs750542481 | 542 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs374703865 | 547 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs754164795 | 547 | V>I | No |
ExAC TOPMed gnomAD |
|
|
COSM465851 COSM465852 |
547 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761169306 | 548 | A>V | No |
ExAC gnomAD |
|
| rs752941276 | 549 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs1302576659 | 549 | H>Y | No | gnomAD | |
| rs553174606 | 550 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 551 | V>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750835711 | 551 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs61737718 | 552 | T>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs991911862 | 553 | G>D | No | Ensembl | |
| rs776231474 | 555 | M>I | No |
ExAC TOPMed gnomAD |
|
|
rs747979677 COSM393181 |
555 | M>T | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs768735520 | 557 | S>C | No |
ExAC gnomAD |
|
| rs746902160 | 557 | S>N | No |
ExAC gnomAD |
|
| rs1203211719 | 557 | S>R | No | gnomAD | |
| rs141429762 | 558 | Y>C | No |
ESP ExAC gnomAD |
|
| rs367823042 | 559 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1589162542 | 560 | P>T | No | Ensembl | |
| rs374844431 | 561 | G>E | No |
ESP TOPMed gnomAD |
|
| rs2092817354 | 562 | A>S | No | TOPMed | |
| rs370247825 | 563 | Y>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs1312598689 | 563 | Y>D | No | gnomAD | |
| rs1357748813 | 564 | T>A | No | gnomAD | |
| rs538149393 | 564 | T>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs767832106 | 565 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs755301482 | 565 | E>D | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 565 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1422468754 | 566 | G>A | No |
TOPMed gnomAD |
|
| rs1422468754 | 566 | G>D | No |
TOPMed gnomAD |
|
| rs1422468754 | 566 | G>V | No |
TOPMed gnomAD |
|
| rs146096912 | 567 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs376984969 | 568 | M>T | No | ESP | |
| rs1186733686 | 570 | N>H | No |
TOPMed gnomAD |
|
| rs534392100 | 571 | V>F | No |
ExAC gnomAD |
|
| rs534392100 | 571 | V>I | No |
ExAC gnomAD |
|
| rs1156365340 | 572 | N>D | No |
TOPMed gnomAD |
|
| rs1179784105 | 574 | L>V | No | gnomAD | |
| rs199940048 | 575 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 575 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs199940048 | 575 | T>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1399914756 | 576 | S>R | No | TOPMed | |
| rs1354334037 | 576 | S>T | No |
TOPMed gnomAD |
|
| rs776520592 | 577 | T>I | No |
ExAC gnomAD |
|
| rs763834998 | 578 | V>G | No |
ExAC gnomAD |
|
| rs760552633 | 579 | I>M | No |
ExAC gnomAD |
|
| rs1589025396 | 579 | I>T | No | TOPMed | |
| rs375734372 | 579 | I>V | No | Ensembl | |
| TCGA novel | 581 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1456698607 | 582 | F>Y | No | gnomAD | |
| rs753066401 | 583 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs1408373646 | 583 | V>I | No |
TOPMed gnomAD |
|
| rs2091476114 | 584 | T>K | No | TOPMed | |
| rs1400795607 | 586 | V>A | No | TOPMed | |
| rs1400795607 | 586 | V>E | No | TOPMed | |
| rs1400795607 | 586 | V>G | No | TOPMed | |
| rs946350265 | 586 | V>M | No | Ensembl | |
| rs759355486 | 587 | N>S | No |
ExAC gnomAD |
|
| rs1589025342 | 588 | V>I | No | Ensembl | |
| rs774317415 | 589 | A>T | No |
ExAC gnomAD |
|
| rs548045837 | 591 | E>V | No |
1000Genomes ExAC gnomAD |
|
|
COSM684688 rs768797369 |
592 | A>D | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs768797369 | 592 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2091475359 | 595 | K>E | No | Ensembl | |
| rs4548513 | 596 | S>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs780346090 | 597 | S>* | No |
ExAC TOPMed gnomAD |
|
| rs2132159061 | 597 | S>T | No | Ensembl | |
| rs1589025238 | 598 | L>S | No | Ensembl | |
|
COSM3967110 rs1372528134 COSM3967109 |
599 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
| rs758975970 | 599 | N>S | No |
ExAC gnomAD |
|
| rs1294789171 | 600 | V>E | No |
TOPMed gnomAD |
|
| rs2091474586 | 600 | V>M | No | TOPMed | |
| rs1412521938 | 602 | D>E | No | gnomAD | |
| rs532225159 | 602 | D>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM684689 COSM684690 |
603 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 604 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753334586 | 604 | N>K | No |
ExAC gnomAD |
|
|
COSM108013 rs139661235 |
605 | Q>* | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs139661235 | 605 | Q>K | No | Ensembl | |
| rs763853559 | 605 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs1455757271 | 606 | F>L | No | gnomAD | |
| rs752574565 | 610 | S>A | No |
ExAC gnomAD |
|
| rs1475997671 | 610 | S>L | No | gnomAD | |
| rs752574565 | 610 | S>P | No |
ExAC gnomAD |
|
| rs767260854 | 611 | K>E | No |
ExAC gnomAD |
|
| rs1564836394 | 612 | K>R | No | Ensembl | |
| rs1442199213 | 613 | I>F | No | gnomAD | |
| rs2091473303 | 613 | I>T | No | TOPMed | |
| rs2091473256 | 614 | Y>N | No | Ensembl | |
| TCGA novel | 616 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs184992188 | 618 | H>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs780217926 | 619 | D>E | No |
ExAC gnomAD |
|
| rs747190761 | 619 | D>G | No |
ExAC gnomAD |
|
| rs746240423 | 620 | I>N | No |
ExAC TOPMed gnomAD |
|
| rs746240423 | 620 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs772371271 | 620 | I>V | No |
ExAC gnomAD |
|
| rs866894854 | 621 | R>I | No |
TOPMed gnomAD |
|
| rs866894854 | 621 | R>K | No |
TOPMed gnomAD |
|
| rs1589025034 | 622 | C>R | No | Ensembl | |
| rs757726745 | 624 | V>I | No |
ExAC gnomAD |
|
| rs757726745 | 624 | V>L | No |
ExAC gnomAD |
|
| rs1353864754 | 625 | M>V | No | Ensembl | |
| rs755658279 | 627 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs149081490 | 628 | R>G | No |
ESP ExAC gnomAD |
|
| rs754792055 | 628 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs754792055 | 628 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs149081490 | 628 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA gnomAD |
| rs760749756 | 629 | T>S | No | ExAC | |
| TCGA novel | 630 | P>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275763660 COSM3978708 |
631 | E>Q | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1060502222 | 632 | E>* | No |
TOPMed gnomAD |
|
| rs2081724159 | 632 | E>A | No | gnomAD | |
| rs775582644 | 633 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs1180223980 | 635 | D>N | No | TOPMed | |
| TCGA novel | 635 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs910127831 | 636 | V>I | No | gnomAD | |
| rs2081723295 | 637 | S>F | No |
TOPMed gnomAD |
|
| rs954219089 | 638 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs2081723156 | 638 | D>G | No | Ensembl | |
| TCGA novel | 642 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1181936939 | 644 | E>K | No |
TOPMed gnomAD |
|
| rs370600208 | 645 | V>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs376927818 | 647 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs747672598 | 647 | S>T | No |
ExAC gnomAD |
|
| rs2081721278 | 648 | H>Y | No | gnomAD | |
| rs1564645876 | 649 | T>S | No | Ensembl | |
| rs780701411 | 649 | T>S | No |
ExAC gnomAD |
|
| rs2081720596 | 652 | Q>* | No | TOPMed | |
|
COSM1474705 COSM1474706 |
652 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2081720596 | 652 | Q>K | No | TOPMed | |
| rs758246563 | 654 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs758246563 | 654 | E>K | No |
ExAC TOPMed gnomAD |
|
|
COSM1702550 COSM1702549 |
655 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200764970 | 656 | K>N | No | 1000Genomes | |
| TCGA novel | 658 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1215420249 | 658 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2081719081 | 659 | R>K | No | TOPMed | |
| rs1340338960 | 659 | R>W | No | gnomAD | |
| TCGA novel | 660 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM684695 COSM684696 |
660 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs745685715 | 660 | A>T | No |
ExAC gnomAD |
|
| rs1469349753 | 661 | K>N | No |
TOPMed gnomAD |
|
|
COSM2158747 COSM2158746 |
661 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1240027512 | 662 | M>I | No | Ensembl | |
| rs757017704 | 663 | T>I | No |
ExAC gnomAD |
|
| rs761656740 | 665 | L>V | No | Ensembl | |
| rs1175182538 | 666 | P>T | No | gnomAD | |
| rs774256578 | 667 | E>D | No |
ExAC TOPMed gnomAD |
|
|
COSM1297357 rs1460001539 COSM1297356 |
667 | E>K | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1430252976 | 668 | A>E | No |
TOPMed gnomAD |
|
| rs777560851 | 668 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1430252976 | 668 | A>V | No |
TOPMed gnomAD |
|
| rs2080384416 | 671 | E>K | No | TOPMed | |
|
COSM919551 COSM919550 |
672 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2080384226 | 673 | I>T | No | TOPMed | |
| rs751523508 | 675 | E>G | No |
ExAC gnomAD |
|
| rs766719017 | 676 | Q>* | No |
ExAC gnomAD |
|
| rs766719017 | 676 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2080383618 | 677 | V>F | No | gnomAD | |
| rs750846964 | 678 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs777251738 | 679 | D>V | No |
ExAC gnomAD |
|
| TCGA novel | 681 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2080383012 | 681 | K>R | No |
TOPMed gnomAD |
|
|
rs2080382814 COSM919548 COSM919549 |
683 | V>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs2133600667 | 684 | K>N | No | Ensembl | |
| rs771743672 | 685 | S>R | No |
ExAC gnomAD |
|
| rs574605528 | 688 | D>Y | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 690 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1271816832 | 690 | E>G | No |
TOPMed gnomAD |
|
| rs374172412 | 691 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3439630 COSM3439631 |
692 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1199945183 | 693 | I>T | No | TOPMed | |
| rs1564616316 | 694 | W>* | No | Ensembl | |
|
COSM2158743 COSM2158742 |
695 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs886611989 | 697 | T>I | No | Ensembl | |
| rs1419829048 | 697 | T>S | No | gnomAD | |
| rs1258103103 | 698 | S>R | No |
TOPMed gnomAD |
|
| rs142942346 | 699 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 700 | D>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1029223949 | 700 | D>G | No |
TOPMed gnomAD |
|
| rs780238387 | 701 | I>N | No |
ExAC gnomAD |
|
| rs747131917 | 701 | I>V | No |
ExAC gnomAD |
|
|
RCV001698860 rs1197911296 |
702 | I>V | No |
ClinVar dbSNP gnomAD |
|
| rs1027791056 | 703 | V>F | No | TOPMed | |
|
COSM1321268 COSM1321267 |
705 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 706 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764029257 | 709 | C>G | No |
ExAC TOPMed gnomAD |
|
| rs764029257 | 709 | C>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 710 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001699766 rs2133600301 |
710 | M>T | No |
ClinVar Ensembl dbSNP |
|
| rs2080379706 | 713 | M>V | No | TOPMed | |
| rs1408280440 | 714 | E>G | No | TOPMed | |
| rs1334836827 | 714 | E>K | No | gnomAD | |
| rs761047309 | 715 | M>L | No |
ExAC gnomAD |
|
| rs761047309 | 715 | M>V | No |
ExAC gnomAD |
|
| rs2080379360 | 716 | T>R | No | TOPMed | |
| rs2080379224 | 717 | D>E | No | TOPMed | |
|
COSM1202589 rs767065242 |
718 | F>S | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs2080379096 | 719 | T>A | No | Ensembl | |
| rs2078479913 | 720 | R>S | No | Ensembl | |
| rs1179591600 | 721 | G>D | No |
TOPMed gnomAD |
|
| rs2078479816 | 722 | K>R | No | TOPMed | |
|
COSM919546 COSM919547 |
723 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs543012210 | 725 | L>V | No |
1000Genomes ExAC gnomAD |
|
| rs1345330716 | 727 | H>P | No |
TOPMed gnomAD |
|
| rs1345330716 | 727 | H>R | No |
TOPMed gnomAD |
|
| rs1164244191 | 728 | T>A | No |
TOPMed gnomAD |
|
| rs1278925850 | 728 | T>I | No | gnomAD | |
| rs1164244191 | 728 | T>S | No |
TOPMed gnomAD |
|
| rs1589220797 | 729 | T>P | No | Ensembl | |
| rs1234352433 | 730 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs776774449 | 732 | I>F | No |
ExAC gnomAD |
|
| rs574010644 | 732 | I>T | No |
1000Genomes ExAC gnomAD |
|
| rs1416026323 | 733 | Y>H | No |
TOPMed gnomAD |
|
| rs1326751181 | 734 | A>G | No | gnomAD | |
| rs2078478696 | 735 | A>T | No | Ensembl | |
| rs1299153203 | 735 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1413120739 | 736 | K>N | No | gnomAD | |
| rs778818586 | 737 | M>K | No |
ExAC gnomAD |
|
| rs749520849 | 739 | S>P | No |
ExAC gnomAD |
|
|
COSM4900599 COSM4900600 |
741 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2133325858 | 743 | S>A | No | Ensembl | |
| rs1244151036 | 744 | R>M | No |
TOPMed gnomAD |
|
| rs1244151036 | 744 | R>T | No |
TOPMed gnomAD |
|
| rs781670995 | 745 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs2078477950 | 745 | M>R | No |
TOPMed gnomAD |
|
| rs2078477950 | 745 | M>T | No |
TOPMed gnomAD |
|
| rs2078478019 | 745 | M>V | No | Ensembl | |
| rs755424227 | 747 | V>A | No |
ExAC gnomAD |
|
| rs755424227 | 747 | V>D | No |
ExAC gnomAD |
|
| rs1011996986 | 748 | L>V | No | gnomAD | |
| rs1211245436 | 749 | A>D | No |
TOPMed gnomAD |
|
|
rs1211245436 COSM1348616 COSM1348617 |
749 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs149211186 | 750 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs367848292 | 750 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs367848292 | 750 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs367848292 | 750 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3439626 rs1485947386 COSM3439627 |
755 | Q>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs373175781 | 757 | P>T | No | gnomAD | |
|
COSM684697 COSM684698 |
761 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1371478884 | 761 | C>S | No | gnomAD | |
| rs1238213207 | 765 | L>V | No | gnomAD | |
| rs972917241 | 767 | A>T | No | Ensembl | |
| rs767419759 | 768 | Y>C | No |
ExAC gnomAD |
|
| rs368637046 | 768 | Y>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs2077974726 | 771 | Q>H | No | Ensembl | |
| rs1461394154 | 772 | I>V | No | gnomAD | |
| rs762952337 | 773 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs374450104 | 774 | F>L | No |
ESP TOPMed gnomAD |
|
| rs559343990 | 774 | F>Y | No | 1000Genomes | |
| rs1589189233 | 776 | S>F | No | Ensembl | |
|
COSM6066674 COSM6066673 |
777 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1405320176 | 779 | L>V | No | gnomAD | |
| rs545860983 | 781 | I>T | No |
1000Genomes ExAC gnomAD |
|
| rs2077973637 | 782 | C>R | No | gnomAD | |
|
COSM3985691 COSM3985690 |
782 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776814237 | 783 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs747397851 | 784 | Q>E | No |
ExAC gnomAD |
|
| rs1292318570 | 786 | K>R | No |
TOPMed gnomAD |
|
| rs1467999363 | 788 | E>K | No | gnomAD | |
| rs866450073 | 789 | I>M | No | gnomAD | |
| rs780431081 | 789 | I>T | No |
ExAC gnomAD |
|
| rs2077973186 | 789 | I>V | No | TOPMed | |
| rs758882774 | 790 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs2077972782 | 791 | N>H | No | TOPMed | |
|
COSM427763 COSM427764 |
792 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2133256978 | 794 | G>A | No | Ensembl | |
|
COSM3867609 rs145119798 COSM3867608 |
794 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM388928 rs1442075505 |
795 | E>K | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1372395946 | 796 | L>F | No | gnomAD | |
|
rs1372395946 COSM301027 COSM301028 |
796 | L>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
| rs2077971995 | 797 | I>L | No | TOPMed | |
| rs2077971867 | 798 | M>T | No |
TOPMed gnomAD |
|
| rs1452042848 | 798 | M>V | No |
TOPMed gnomAD |
|
| rs2077971764 | 799 | S>P | No |
TOPMed gnomAD |
|
|
COSM1348615 COSM1348614 |
800 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs991064328 | 800 | A>T | No | gnomAD | |
|
rs1258670993 COSM229159 |
800 | A>V | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs2077069285 | 803 | S>G | No | gnomAD | |
| rs772544958 | 803 | S>I | No |
ExAC gnomAD |
|
| TCGA novel | 803 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs370688983 | 804 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA gnomAD |
| rs200392000 | 805 | T>I | No |
1000Genomes ExAC gnomAD |
|
| rs200392000 | 805 | T>R | No |
1000Genomes ExAC gnomAD |
|
| rs1307444147 | 807 | L>V | No | gnomAD | |
| rs771503939 | 810 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs914110946 | 811 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs914110946 | 811 | A>T | No |
TOPMed gnomAD |
|
| rs1356954445 | 812 | K>E | No | TOPMed | |
| rs777374255 | 813 | N>K | No |
ExAC gnomAD |
|
| rs2077068714 | 813 | N>S | No | TOPMed | |
| rs2077068714 | 813 | N>T | No | TOPMed | |
| rs1230389938 | 814 | L>F | No |
TOPMed gnomAD |
|
| rs769151933 | 815 | M>R | No |
ExAC TOPMed gnomAD |
|
| rs769151933 | 815 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs1275596663 | 815 | M>V | No |
TOPMed gnomAD |
|
| rs899736345 | 816 | N>T | No | TOPMed | |
| rs1589129698 | 817 | A>P | No | Ensembl | |
| rs747887589 | 818 | V>L | No |
ExAC gnomAD |
|
|
COSM4848701 COSM4848702 |
819 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1402214488 | 819 | V>G | No |
TOPMed gnomAD |
|
| rs2077068254 | 820 | Q>E | No |
TOPMed gnomAD |
|
| rs1483630244 | 820 | Q>R | No | Ensembl | |
| rs2077068047 | 822 | V>E | No | Ensembl | |
|
COSM194596 rs2077068079 |
822 | V>L | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2077068079 | 822 | V>M | No | Ensembl | |
| rs989677887 | 823 | K>E | No | Ensembl | |
| rs1589129641 | 823 | K>N | No | Ensembl | |
| rs754872577 | 823 | K>T | No |
ExAC gnomAD |
|
|
rs751291562 COSM3978704 |
824 | M>I | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs2077067828 | 824 | M>R | No |
TOPMed gnomAD |
|
| rs2077067828 | 824 | M>T | No |
TOPMed gnomAD |
|
| rs1414254414 | 825 | S>Y | No | gnomAD | |
| rs2133106367 | 826 | Y>N | No | Ensembl | |
| rs758285039 | 827 | I>L | No |
ExAC gnomAD |
|
| rs1415475932 | 827 | I>T | No | gnomAD | |
| TCGA novel | 829 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1471913196 | 830 | T>A | No |
TOPMed gnomAD |
|
| rs1471913196 | 830 | T>S | No |
TOPMed gnomAD |
|
| rs542014877 | 831 | K>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1443242896 | 831 | K>R | No | gnomAD | |
| rs376310020 | 832 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2077067261 | 833 | I>M | No | Ensembl | |
| rs753029606 | 833 | I>S | No |
ExAC TOPMed gnomAD |
|
| rs753029606 | 833 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs202196166 | 834 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs763591205 | 836 | Q>R | No |
ExAC gnomAD |
|
| rs773566253 | 840 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs2133106149 | 841 | P>L | No | Ensembl | |
| rs1293070164 | 841 | P>S | No |
TOPMed gnomAD |
|
| rs1293070164 | 841 | P>T | No |
TOPMed gnomAD |
|
| rs1298153245 | 843 | H>N | No |
TOPMed gnomAD |
|
| rs540211204 | 843 | H>P | No |
1000Genomes TOPMed gnomAD |
|
|
COSM684703 COSM684704 |
844 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2077066633 | 844 | P>T | No | Ensembl | |
| rs1331943977 | 845 | V>A | No | gnomAD | |
| rs2077066600 | 845 | V>F | No | Ensembl | |
| rs1467135109 | 846 | V>M | No | gnomAD | |
| rs1391961462 | 847 | M>R | No | gnomAD | |
|
rs2077066345 COSM3709931 |
849 | R>T | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated Ensembl |
| TCGA novel | 851 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778712224 | 852 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs778712224 | 852 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs557828885 | 853 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs557828885 | 853 | P>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2077065965 | 854 | A>T | No | Ensembl | |
|
COSM919543 COSM919542 |
855 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1467550342 | 855 | K>R | No |
TOPMed gnomAD |
|
|
COSM1348612 COSM1348613 |
856 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767799982 | 856 | K>N | No |
ExAC gnomAD |
|
| rs1272893094 | 856 | K>Q | No | gnomAD | |
|
COSM3439623 COSM3439622 |
857 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3935129 rs755208593 |
857 | P>T | oesophagus [Cosmic] | No |
cosmic curated ExAC TOPMed |
| rs759618368 | 857 | P>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM684706 COSM684705 |
858 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1403811319 | 859 | I>M | No | TOPMed | |
| rs766896063 | 859 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs544334804 | 861 | R>G | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 862 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1956858363 | 862 | E>K | No | Ensembl | |
| rs1448835079 | 863 | K>R | No |
TOPMed gnomAD |
|
| rs2077065031 | 864 | P>L | No | TOPMed | |
| TCGA novel | 864 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3439621 COSM3439620 |
866 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM919540 COSM919541 |
867 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761402440 | 867 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs761402440 | 867 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1368665548 | 867 | T>S | No | gnomAD | |
| rs768330893 | 868 | C>F | No |
ExAC TOPMed gnomAD |
|
| rs768330893 | 868 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs746704810 | 872 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs761449098 | 873 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs778921417 | 873 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs2077064423 | 874 | G>V | No | TOPMed | |
| rs2077064377 | 875 | S>P | No |
TOPMed gnomAD |
|
| rs1350289763 | 876 | A>T | No | gnomAD | |
| rs374368635 | 877 | K>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs781167292 | 877 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs2077064001 | 878 | K>E | No | Ensembl | |
| rs2077063878 | 879 | K>I | No |
TOPMed gnomAD |
|
| rs1445606312 | 879 | K>Q | No |
TOPMed gnomAD |
|
| rs2077063878 | 879 | K>R | No |
TOPMed gnomAD |
|
| rs1564515595 | 880 | I>N | No | Ensembl | |
| TCGA novel | 880 | I>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1564515595 | 880 | I>T | No | Ensembl | |
| rs2077063720 | 880 | I>V | No | gnomAD | |
| rs755081926 | 882 | P>L | No |
ExAC TOPMed gnomAD |
|
|
TCGA novel rs766707232 |
883 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC gnomAD NCI-TCGA |
| rs2077063354 | 883 | L>W | No | TOPMed | |
| rs1286343345 | 884 | Q>K | No | gnomAD | |
| rs758842998 | 885 | V>A | No |
ExAC TOPMed gnomAD |
|
|
COSM1135041 COSM1135042 |
885 | V>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM684709 COSM684710 rs1241638519 |
885 | V>F | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
rs1198244482 COSM3709929 |
886 | M>I | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated TOPMed |
| rs376134614 | 886 | M>V | No | Ensembl | |
| rs867483256 | 888 | E>* | No | gnomAD | |
| rs867483256 | 888 | E>K | No | gnomAD | |
| rs1478882160 | 888 | E>V | No | gnomAD | |
| rs2077062696 | 889 | F>L | No |
TOPMed gnomAD |
|
| rs1002623045 | 889 | F>L | No | Ensembl | |
| TCGA novel | 890 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3867607 COSM3867606 |
891 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2077062531 | 891 | G>R | No | TOPMed | |
| rs1589129179 | 892 | R>K | No | Ensembl | |
| rs750697572 | 893 | Q>K | No |
ExAC gnomAD |
|
| rs765799315 | 894 | I>F | No |
ExAC gnomAD |
|
| rs2077062272 | 894 | I>M | No | TOPMed | |
| rs906568114 | 896 | Y>S | No | Ensembl |
No associated diseases with Q9UI47
7 regional properties for Q9UI47
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | ATP-dependent RNA helicase DEAD-box, conserved site | 246 - 254 | IPR000629 |
| domain | Helicase, C-terminal | 327 - 475 | IPR001650 |
| domain | DEAD/DEAH box helicase domain | 118 - 288 | IPR011545 |
| repeat | RNA helicase p68 repeat | 498 - 532 | IPR012587-1 |
| repeat | RNA helicase p68 repeat | 551 - 583 | IPR012587-2 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 113 - 316 | IPR014001 |
| domain | RNA helicase, DEAD-box type, Q motif | 94 - 122 | IPR014014 |
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| desmosome | A cell-cell junction in which |
| fascia adherens | A cell-cell junction that contains the transmembrane protein N-cadherin, which interacts with identical molecules from neighbouring cells to form a tight mechanical intercellular link; forms a large portion of the intercalated disc, the structure at which myofibrils terminate in cardiomyocytes. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| beta-catenin binding | Binding to a catenin beta subunit. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| bundle of His cell-Purkinje myocyte adhesion involved in cell communication | The attachment of a bundle of His cell to a Purkinje myocyte via adhesion molecules that results in the cells being juxtaposed so that they can communicate. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. |
| cell-cell adhesion | The attachment of one cell to another cell via adhesion molecules. |
| regulation of heart rate by cardiac conduction | A cardiac conduction process that modulates the frequency or rate of heart contraction. |
| regulation of ventricular cardiac muscle cell action potential | Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in a ventricular cardiac muscle cell contributing to the regulation of its contraction. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3MHM6 | CTNNA1 | Catenin alpha-1 | Bos taurus (Bovine) | SS |
| P12003 | VCL | Vinculin | Gallus gallus (Chicken) | EV |
| P30997 | CTNNA2 | Catenin alpha-2 | Gallus gallus (Chicken) | SS |
| P35220 | alpha-Cat | Catenin alpha | Drosophila melanogaster (Fruit fly) | SS |
| P18206 | VCL | Vinculin | Homo sapiens (Human) | SS |
| P35221 | CTNNA1 | Catenin alpha-1 | Homo sapiens (Human) | EV |
| P26232 | CTNNA2 | Catenin alpha-2 | Homo sapiens (Human) | SS |
| P26231 | Ctnna1 | Catenin alpha-1 | Mus musculus (Mouse) | EV |
| Q61301 | Ctnna2 | Catenin alpha-2 | Mus musculus (Mouse) | EV |
| Q64727 | Vcl | Vinculin | Mus musculus (Mouse) | SS |
| Q65CL1 | Ctnna3 | Catenin alpha-3 | Mus musculus (Mouse) | EV |
| P26234 | VCL | Vinculin | Sus scrofa (Pig) | SS |
| P85972 | Vcl | Vinculin | Rattus norvegicus (Rat) | SS |
| P90947 | hmp-1 | Alpha-catenin-like protein hmp-1 | Caenorhabditis elegans | SS |
| A4IGI7 | ctnna2 | Catenin alpha-2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| B7ZC77 | Ctnna2 | Catenin alpha-2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAETPITLN | IDPQDLQVQT | FTVEKLLEPL | IIQVTTLVNC | PQNPSSRKKG | RSKRASVLLA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SVEEATWNLL | DKGEKIAQEA | TVLKDELTAS | LEEVRKESEA | LKVSAERFTD | DPCFLPKREA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VVQAARALLA | AVTRLLILAD | MIDVMCLLQH | VSAFQRTFES | LKNVANKSDL | QKTYQKLGKE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LENLDYLAFK | RQQDLKSPNQ | RDEIAGARAS | LKENSPLLHS | ICSACLEHSD | VASLKASKDT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VCEEIQNALN | VISNASQGIQ | NMTTPPEPQA | ATLGSALDEL | ENLIVLNPLT | VTEEEIRPSL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EKRLEAIISG | AALLADSSCT | RDLHRERIIA | ECNAIRQALQ | DLLSEYMNNA | GKKERSNTLN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IALDNMCKKT | RDLRRQLRKA | IIDHVSDSFL | DTTVPLLVLI | EAAKNGREKE | IKEYAAIFHE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HTSRLVEVAN | LACSMSTNED | GIKIVKIAAN | HLETLCPQII | NAALALAARP | KSQAVKNTME |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MYKRTWENHI | HVLTEAVDDI | TSIDDFLAVS | ESHILEDVNK | CIIALRDQDA | DNLDRAAGAI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RGRAARVAHI | VTGEMDSYEP | GAYTEGVMRN | VNFLTSTVIP | EFVTQVNVAL | EALSKSSLNV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LDDNQFVDIS | KKIYDTIHDI | RCSVMMIRTP | EELEDVSDLE | EEHEVRSHTS | IQTEGKTDRA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KMTQLPEAEK | EKIAEQVADF | KKVKSKLDAE | IEIWDDTSND | IIVLAKNMCM | IMMEMTDFTR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GKGPLKHTTD | VIYAAKMISE | SGSRMDVLAR | QIANQCPDPS | CKQDLLAYLE | QIKFYSHQLK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ICSQVKAEIQ | NLGGELIMSA | LDSVTSLIQA | AKNLMNAVVQ | TVKMSYIAST | KIIRIQSPAG |
| 850 | 860 | 870 | 880 | 890 | |
| PRHPVVMWRM | KAPAKKPLIK | REKPEETCAA | VRRGSAKKKI | HPLQVMSEFR | GRQIY |