P54707
PR
Gene name |
ATP12A |
Protein name |
Potassium-transporting ATPase alpha chain 2 |
Names |
HK alpha 2, Non-gastric H(+)/K(+) ATPase subunit alpha, Non-gastric Na(+)/K(+) ATPase subunit alpha, Proton pump, Sodium pump |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:479 |
EC number |
7.2.2.13: Linked to the hydrolysis of a nucleoside triphosphate |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P54707
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P54707-F1 | Predicted | AlphaFoldDB |
864 variants for P54707
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA387569075 rs1294456416 |
2 | H>L | No |
ClinGen TOPMed |
|
|
rs1334856604 CA387569076 |
2 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs907338756 CA246782034 |
2 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs756959120 CA6916700 |
4 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6916702 rs745376255 |
6 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs771424580 CA6916705 |
8 | I>M | No |
ClinGen ExAC TOPMed |
|
|
CA6916703 rs769242307 |
8 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387569162 rs1306528095 |
9 | Y>C | No |
ClinGen TOPMed |
|
|
CA246782344 rs1035926192 |
9 | Y>N | No |
ClinGen TOPMed |
|
|
CA387569197 rs1331350960 |
12 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA387569230 rs1349329141 |
13 | L>P | No |
ClinGen gnomAD |
|
|
rs547347839 CA6916709 |
13 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 15 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434705896 CA387569280 |
15 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1221504274 CA387569328 |
18 | D>G | No |
ClinGen gnomAD |
|
|
rs1352000801 CA387569313 |
18 | D>N | No |
ClinGen TOPMed |
|
|
rs772341439 CA6916713 |
19 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA387569416 rs1362201487 |
22 | T>I | No |
ClinGen gnomAD |
|
|
CA387569441 rs1400414342 |
23 | D>E | No |
ClinGen TOPMed |
|
|
rs143794717 CA387569465 |
24 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 24 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159266544 CA387569480 |
25 | G>E | No |
ClinGen gnomAD |
|
|
rs1423237008 CA387569481 |
26 | D>N | No |
ClinGen gnomAD |
|
|
COSM946159 rs1380799958 CA387569530 |
28 | K>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA387569523 rs1361336969 |
28 | K>R | No |
ClinGen gnomAD |
|
|
CA246782361 rs779333875 |
29 | E>K | No |
ClinGen Ensembl |
|
|
rs752654475 COSM3671254 CA6916717 |
30 | K>N | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6916718 rs763019731 |
31 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387569579 rs763019731 |
31 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA6916719 rs148193980 |
32 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746378041 CA246782370 |
32 | R>S | No |
ClinGen Ensembl |
|
|
rs751386358 CA6916720 |
33 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1326434608 CA387569626 |
33 | G>R | No |
ClinGen gnomAD |
|
|
CA6916723 CA6916722 rs374884366 |
36 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1245121152 CA387569734 |
38 | C>S | No |
ClinGen gnomAD |
|
|
CA6916724 rs755586984 |
42 | K>T | No |
ClinGen ExAC gnomAD |
|
| rs1211915800 | 45 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6916727 rs755487496 |
46 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs749746814 CA6916726 |
46 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA387569945 rs1301120221 |
48 | E>G | No |
ClinGen TOPMed |
|
|
CA6916728 rs779180633 |
49 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387570068 rs1443371271 |
54 | L>F | No |
ClinGen gnomAD |
|
|
rs941863428 CA246783352 |
57 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 60 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387570407 rs1381280827 |
70 | Y>D | No |
ClinGen gnomAD |
|
| TCGA novel | 73 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747209811 CA6916757 |
76 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA6916782 rs376619798 |
77 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6916785 rs181476360 |
80 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs181476360 CA6916784 |
80 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1380878619 CA387564583 |
81 | T>I | No |
ClinGen gnomAD |
|
|
rs1593132346 CA387564578 |
81 | T>P | No |
ClinGen Ensembl |
|
|
rs773266476 CA6916786 |
83 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6916789 rs776237164 |
85 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387564609 rs1294323206 |
86 | L>I | No |
ClinGen gnomAD |
|
|
rs759218703 CA6916792 |
88 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA387564625 rs371217996 |
89 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752166372 CA6916794 |
89 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs371217996 CA6916793 |
89 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387564629 rs1290130064 |
90 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1290130064 CA387564628 |
90 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6916796 rs764506788 |
92 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6916798 rs757662302 |
95 | L>F | No |
ClinGen ExAC |
|
|
CA6916800 rs141092295 |
96 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6916799 rs141092295 |
96 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387564666 rs1593132426 |
96 | T>P | No |
ClinGen Ensembl |
|
|
CA6916801 rs374788901 |
99 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6916802 rs369028693 |
100 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369028693 CA387564690 |
100 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387564699 rs146927457 |
101 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6916803 rs146927457 |
101 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs552826225 CA6916805 |
102 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6916807 rs201512800 |
103 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6916811 rs200199718 |
105 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6916810 rs200199718 |
105 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200199718 CA387564720 |
105 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387564729 rs980110456 |
106 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs199614432 CA6916813 |
106 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1356186253 CA387564741 |
108 | L>F | No |
ClinGen gnomAD |
|
|
CA6916815 rs763696689 |
111 | M>I | No |
ClinGen ExAC |
|
|
CA387564773 rs1566070198 |
112 | V>A | No |
ClinGen Ensembl |
|
|
CA387564771 rs1292410559 |
112 | V>L | No |
ClinGen gnomAD |
|
|
rs1237873889 CA387564777 |
113 | G>A | No |
ClinGen TOPMed |
|
|
rs962636909 CA387564776 CA246778950 |
113 | G>R | No |
ClinGen TOPMed |
|
|
CA387564780 rs960146252 |
114 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs767932766 CA6916818 |
114 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs960146252 CA246778953 |
114 | G>W | No |
ClinGen TOPMed gnomAD |
|
| rs35191129 | 115 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs35191129 | 115 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387564796 COSM946161 rs1236838340 |
116 | S>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA387564795 rs1236838340 |
116 | S>Y | No |
ClinGen gnomAD |
|
|
rs754982932 CA6916823 |
117 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs754137542 CA6916822 |
117 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6916824 rs778995980 |
120 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6916825 rs746901315 |
121 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 122 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150573901 CA6916826 |
122 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 123 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6916828 rs149324896 |
123 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1340424763 CA387564836 |
123 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769691473 CA6916829 |
125 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs144586793 CA6916831 |
131 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6916833 rs139532001 |
135 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387565293 rs139532001 |
135 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387565301 rs369759214 |
136 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387565312 rs1458771909 |
138 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 140 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240199563 CA387565334 |
141 | S>Y | No |
ClinGen gnomAD |
|
|
rs199568379 CA387565357 |
144 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 148 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 154 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174321376 CA387565569 |
154 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 155 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6916856 rs761277410 |
156 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6916857 COSM696933 rs201403471 |
158 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA387565630 rs1310053849 |
159 | G>R | No |
ClinGen gnomAD |
|
|
CA246779402 rs993962202 |
160 | I>S | No |
ClinGen Ensembl |
|
| TCGA novel | 166 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6916860 rs765444284 |
167 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA387565718 rs1254271598 |
168 | K>E | No |
ClinGen TOPMed |
|
|
CA6916862 rs763002314 |
172 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387565792 rs764186276 |
173 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764186276 CA6916863 |
173 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387565842 rs1287984168 |
176 | F>L | No |
ClinGen gnomAD |
|
|
CA6916865 rs756088127 |
177 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6916864 rs750275565 |
177 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322711989 CA387565857 |
177 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA387565876 rs1382382053 |
178 | K>E | No |
ClinGen TOPMed |
|
|
rs1198336660 CA387565891 |
179 | M>V | No |
ClinGen gnomAD |
|
|
CA387565916 rs1266943768 |
180 | I>N | No |
ClinGen gnomAD |
|
|
rs1266943768 CA387565917 |
180 | I>T | No |
ClinGen gnomAD |
|
|
rs1256752501 CA387565931 |
181 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387566091 rs1415422456 |
183 | Q>* | No |
ClinGen gnomAD |
|
|
CA387566090 rs1415422456 |
183 | Q>E | No |
ClinGen gnomAD |
|
|
CA387566106 rs1459186112 |
184 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387566109 rs1459186112 |
184 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 185 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387566122 rs1465689780 |
185 | L>P | No |
ClinGen gnomAD |
|
|
rs764017849 CA6916885 |
185 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387566132 rs1453922514 |
186 | V>D | No |
ClinGen TOPMed |
|
|
rs114057646 COSM159261 CA6916887 |
186 | V>I | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6916888 rs766326144 |
187 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246779982 rs766326144 |
187 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368648921 CA6916889 COSM2266848 |
188 | R>* | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs754788576 CA6916890 |
188 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs146053308 CA6916894 |
191 | E>K | No |
ClinGen ESP ExAC TOPMed |
|
|
rs146053308 CA246780000 |
191 | E>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
CA387566201 rs1235431554 |
192 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 193 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1366006 CA387566215 rs1566071023 |
194 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs141275215 CA6916896 |
196 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1317479324 CA387566229 |
196 | P>S | No |
ClinGen gnomAD |
|
|
CA6916897 rs746526469 |
199 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200383991 CA6916898 |
200 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 201 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387566272 rs1257375281 |
203 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1257375281 CA387566274 |
203 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs142334583 CA6916902 |
205 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387566285 rs1422505719 |
205 | I>T | No |
ClinGen gnomAD |
|
|
rs142334583 CA6916901 |
205 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770108143 CA6916903 |
207 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 207 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA246780038 rs975119978 |
209 | K>T | No |
ClinGen Ensembl |
|
|
CA6916904 rs775841641 |
211 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387566323 rs1465540543 |
211 | G>E | No |
ClinGen gnomAD |
|
|
CA387566321 rs775841641 |
211 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246780050 rs921012017 |
212 | D>N | No |
ClinGen Ensembl |
|
|
rs370415591 CA6916906 |
214 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370993438 CA6916907 |
216 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6916908 rs761927861 |
217 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA387566367 rs1340187261 |
218 | I>V | No |
ClinGen gnomAD |
|
|
rs374324240 CA6916909 |
219 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387566380 rs1455030930 |
220 | V>L | No |
ClinGen TOPMed |
|
|
CA6916911 rs200687022 |
222 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387566405 rs1460838644 |
224 | Q>R | No |
ClinGen TOPMed |
|
|
CA387566412 rs1257099300 |
225 | G>E | No |
ClinGen gnomAD |
|
|
CA387566411 rs1232554396 |
225 | G>W | No |
ClinGen gnomAD |
|
|
CA6916913 rs200826692 |
226 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6916916 rs12866274 |
227 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6916915 rs12866274 |
227 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752546299 CA6916914 |
227 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6916938 rs267603785 |
231 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA6916937 rs267603785 |
231 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA387566473 rs1373279371 |
233 | L>P | No |
ClinGen gnomAD |
|
|
rs140525021 COSM3700392 CA6916941 |
234 | T>M | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP TOPMed gnomAD |
| TCGA novel | 236 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6916944 rs779166927 |
237 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6916945 rs748345503 |
238 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs772189463 CA6916946 |
239 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1274571750 CA387566522 |
241 | P>L | No |
ClinGen gnomAD |
|
|
CA6916948 rs200747942 |
241 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771186944 CA6916949 |
242 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387566527 rs1384284866 COSM292126 |
242 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1384284866 CA387566525 |
242 | R>L | No |
ClinGen TOPMed |
|
|
CA6916950 rs775540619 |
243 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs150066864 CA6916954 |
245 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1343425717 CA387566540 |
245 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6916955 rs761731384 |
247 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs767140734 CA6916956 |
248 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767140734 CA246780232 |
248 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387566563 rs1165904795 |
248 | H>Q | No |
ClinGen gnomAD |
|
|
CA387566579 rs1266510280 |
250 | N>K | No |
ClinGen TOPMed |
|
|
CA246780238 rs917164796 |
251 | P>R | No |
ClinGen gnomAD |
|
|
rs979893893 CA246780249 |
254 | T>K | No |
ClinGen Ensembl |
|
|
CA6916958 rs760144732 |
255 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA6916961 rs755453355 |
260 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6916962 rs779271764 |
261 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6916964 rs146944052 |
263 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6916965 rs772248715 |
263 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258121555 CA387566674 |
265 | L>R | No |
ClinGen gnomAD |
|
|
rs1197488661 CA387566673 |
265 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 266 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6916984 rs757570495 |
269 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1448712716 CA387566754 |
271 | G>S | No |
ClinGen TOPMed |
|
|
rs1023956360 CA246780431 |
272 | M>T | No |
ClinGen gnomAD |
|
|
rs756263275 CA6916988 |
275 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6916989 rs778681934 |
276 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246780455 rs375014093 |
277 | G>S | No |
ClinGen Ensembl |
|
|
rs771804619 CA6916991 |
278 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6916992 COSM432237 rs200347989 |
279 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs565225438 CA6916993 |
279 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs565225438 CA6916994 |
279 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6916996 rs758948077 |
282 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6916999 rs143054643 |
284 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764499452 CA6917000 |
287 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387566866 rs1196041037 |
289 | A>P | No |
ClinGen gnomAD |
|
|
rs1220548988 CA387566885 |
292 | V>F | No |
ClinGen TOPMed |
|
|
rs1220548988 CA387566883 |
292 | V>I | No |
ClinGen TOPMed |
|
|
CA6917003 rs767608534 |
295 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs900523833 CA246780507 |
296 | K>R | No |
ClinGen Ensembl |
|
|
rs561103824 CA6917004 |
297 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1386713322 CA387566921 |
297 | T>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 298 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748013157 CA6917008 |
299 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA387566929 rs1277552505 |
299 | I>V | No |
ClinGen TOPMed |
|
|
CA6917010 rs777746003 |
301 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs758346377 CA6917009 |
301 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA246780524 rs1008337619 |
302 | E>Q | No |
ClinGen TOPMed |
|
|
rs1242433607 CA387566960 |
304 | E>K | No |
ClinGen Ensembl |
|
|
rs1262245169 CA387566972 |
305 | H>Q | No |
ClinGen gnomAD |
|
|
rs776122923 CA6917013 |
305 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366837501 CA387566977 |
306 | F>C | No |
ClinGen TOPMed |
|
|
CA246780537 rs1000101357 |
306 | F>L | No |
ClinGen Ensembl |
|
|
CA6917014 rs372552334 |
307 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1208286477 CA387566991 |
308 | H>R | No |
ClinGen gnomAD |
|
|
CA246780545 rs78811993 |
309 | I>F | No |
ClinGen Ensembl |
|
|
rs1468977518 CA387567007 |
309 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 311 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6917016 rs769143820 |
312 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917018 rs763491910 |
313 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA387567055 rs1183047356 |
313 | V>M | No |
ClinGen gnomAD |
|
|
CA387567071 rs1471639151 |
314 | A>G | No |
ClinGen gnomAD |
|
|
CA387567102 rs1162296026 |
317 | I>V | No |
ClinGen gnomAD |
|
|
CA387567121 rs1462588931 |
318 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1328624863 CA387567146 |
320 | L>I | No |
ClinGen gnomAD |
|
|
rs1399517913 CA387567193 |
322 | F>L | No |
ClinGen gnomAD |
|
|
rs1268668344 CA387567204 |
323 | I>N | No |
ClinGen TOPMed |
|
|
CA6917020 rs775041574 |
324 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA6917022 rs376103804 |
325 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1243726683 CA387567258 |
327 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1243726683 CA387567255 |
327 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs191173942 CA246780591 |
327 | S>Y | No |
ClinGen 1000Genomes |
|
|
rs1013984673 CA246780595 |
328 | L>V | No |
ClinGen gnomAD |
|
|
rs1215660783 CA387567288 |
329 | K>R | No |
ClinGen gnomAD |
|
|
CA6917024 rs369267823 |
330 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 334 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156872671 CA387567376 |
335 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6917026 rs372819883 |
340 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA387567461 rs1253214234 |
341 | G>D | No |
ClinGen gnomAD |
|
|
rs138150719 CA6917027 |
342 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6917029 rs777656059 |
346 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA6917028 rs777656059 |
346 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA387567537 rs745443085 |
349 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM299067 CA6917032 rs745443085 |
349 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 351 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593134438 CA387567566 |
353 | A>V | No |
ClinGen Ensembl |
|
|
CA387567574 rs1593134447 |
355 | V>L | No |
ClinGen Ensembl |
|
|
rs1462489423 CA387567580 |
356 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs772620660 CA6917056 |
358 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs771332778 CA6917059 |
359 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs202155951 CA6917060 |
360 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1194199427 CA387567920 |
361 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387567943 rs1215287379 |
363 | A>E | No |
ClinGen gnomAD |
|
|
rs769933522 CA387567976 |
365 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769933522 CA6917066 |
365 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752833147 CA6917064 COSM946166 |
365 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1290773956 CA387567984 |
366 | M>V | No |
ClinGen gnomAD |
|
|
CA6917068 rs755893211 |
367 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387568007 rs1440195573 |
367 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 368 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387568018 rs1304822979 |
368 | K>R | No |
ClinGen gnomAD |
|
|
rs1566072126 CA387568047 |
370 | N>S | No |
ClinGen Ensembl |
|
|
rs375256989 CA6917071 |
372 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778766710 CA6917073 |
377 | E>* | No |
ClinGen ExAC |
|
|
rs757885776 CA6917075 |
377 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs142661524 CA6917074 |
377 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1418273292 CA387568129 |
378 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 378 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387568156 rs1263229704 |
379 | V>G | No |
ClinGen gnomAD |
|
|
CA246781438 rs146073882 |
379 | V>M | No |
ClinGen ESP gnomAD |
|
|
CA387568160 rs1467643730 |
380 | E>Q | No |
ClinGen gnomAD |
|
|
rs1033107295 CA246781444 |
383 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs747492140 CA6917077 |
384 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA387568222 rs1593135382 |
385 | T>P | No |
ClinGen Ensembl |
|
|
rs1566072181 CA387568238 |
386 | S>C | No |
ClinGen Ensembl |
|
|
rs1366871616 CA387568245 |
387 | I>V | No |
ClinGen gnomAD |
|
|
CA6917080 rs771242833 |
390 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6917082 rs746028094 |
391 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs867536379 CA246781455 |
391 | D>N | No |
ClinGen Ensembl |
|
|
CA246781480 rs200648050 |
392 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs1161575188 CA387568338 |
392 | K>R | No |
ClinGen gnomAD |
|
|
rs562286871 CA246781488 |
393 | T>I | No |
ClinGen 1000Genomes TOPMed |
|
|
CA246781497 rs112162533 |
394 | G>E | No |
ClinGen TOPMed |
|
|
CA6917085 rs769987029 |
395 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6917087 rs372274390 |
396 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387568431 rs1374495757 |
399 | N>I | No |
ClinGen gnomAD |
|
|
CA6917088 rs764107424 |
399 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387568440 rs1310178253 |
400 | R>W | No |
ClinGen gnomAD |
|
|
CA6917090 rs760695882 |
401 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA6917089 rs774093370 |
401 | M>K | No |
ClinGen ExAC TOPMed |
|
|
rs1233417536 CA387568453 |
401 | M>L | No |
ClinGen gnomAD |
|
|
CA6917091 rs766221397 |
402 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs867224558 CA246781540 |
405 | H>Y | No |
ClinGen TOPMed |
|
|
rs377117336 CA246781549 |
407 | W>* | No |
ClinGen ESP TOPMed |
|
|
rs1481497593 CA387568537 |
407 | W>L | No |
ClinGen gnomAD |
|
|
rs202120970 CA6917095 |
409 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387568610 rs1474992444 |
412 | I>L | No |
ClinGen gnomAD |
|
|
CA387568634 rs1338281616 |
413 | F>S | No |
ClinGen gnomAD |
|
|
rs1390598171 CA387568695 |
418 | S>G | No |
ClinGen TOPMed |
|
|
CA6917096 rs372254303 |
418 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387568712 rs1293646592 |
419 | E>K | No |
ClinGen gnomAD |
|
|
CA246781558 rs1050971138 |
420 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 421 | H>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 422 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6917119 rs202206800 |
423 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917121 rs142939089 |
428 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1348342769 CA387568840 |
428 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 429 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446941678 CA387568857 |
431 | R>G | No |
ClinGen TOPMed |
|
|
rs1212672733 CA387568859 |
431 | R>K | No |
ClinGen gnomAD |
|
|
CA387568876 rs1338490325 |
433 | W>* | No |
ClinGen TOPMed |
|
|
CA387568874 rs1282764246 |
433 | W>S | No |
ClinGen gnomAD |
|
|
CA246781686 rs938118126 |
434 | A>S | No |
ClinGen gnomAD |
|
|
CA387568883 rs1192612762 |
434 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA387568888 rs1242772038 |
435 | S>C | No |
ClinGen gnomAD |
|
|
CA6917122 rs749471714 |
436 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA6917123 CA387568894 rs768749384 |
436 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917124 rs779263873 |
437 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6917125 rs764833751 |
438 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917126 rs772327642 |
438 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432158534 CA387568917 |
440 | I>T | No |
ClinGen TOPMed |
|
|
rs1420780266 CA387568923 |
441 | T>I | No |
ClinGen TOPMed |
|
|
rs776660323 CA6917127 |
444 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1346442488 CA387568944 |
444 | N>S | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6917128 rs759577074 |
445 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769564297 CA387568949 |
445 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769564297 CA6917129 |
445 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387568951 rs1188893630 |
446 | A>S | No |
ClinGen TOPMed |
|
|
CA6917130 rs775159643 |
447 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs267603786 CA246781711 |
453 | E>K | No |
ClinGen Ensembl |
|
|
CA6917131 rs56291145 |
454 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs867916190 CA246781740 |
456 | P>S | No |
ClinGen Ensembl |
|
|
CA6917132 rs74643383 |
457 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147563292 CA387569031 |
458 | M>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6917133 rs147563292 |
458 | M>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA387569044 rs767048918 |
459 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917134 rs761287267 |
459 | K>T | No |
ClinGen ExAC |
|
|
CA6917156 COSM1366009 rs754417500 |
461 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs541459748 CA6917157 |
465 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752899934 CA6917160 |
469 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs752899934 CA6917159 |
469 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs778198210 CA6917161 |
470 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462503866 CA387569376 |
470 | A>S | No |
ClinGen gnomAD |
|
|
CA6917162 rs747052810 |
471 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 474 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416792781 CA387569475 |
475 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 476 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253234228 CA387569537 |
478 | I>M | No |
ClinGen TOPMed |
|
|
rs757395223 CA6917163 |
478 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs150118663 CA6917165 |
481 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 482 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292814614 CA387569687 |
485 | I>T | No |
ClinGen gnomAD |
|
|
rs1173885714 CA387569673 |
485 | I>V | No |
ClinGen gnomAD |
|
|
rs1251571194 CA387569744 |
488 | R>I | No |
ClinGen TOPMed |
|
|
CA6917168 rs145531717 COSM1660681 |
490 | R>C | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6917169 COSM291858 rs771710901 |
490 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6917170 rs771710901 |
490 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917167 rs145531717 |
490 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 491 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253094457 CA387569774 |
492 | V>L | No |
ClinGen gnomAD |
|
|
CA387569897 rs1484519137 |
500 | T>A | No |
ClinGen gnomAD |
|
|
CA387569915 rs1318848142 |
501 | N>D | No |
ClinGen TOPMed |
|
|
rs1186798336 CA387569922 |
501 | N>S | No |
ClinGen gnomAD |
|
|
CA6917204 rs201441790 |
505 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs570731367 CA246784404 |
505 | L>P | No |
ClinGen 1000Genomes gnomAD |
|
|
CA387570471 rs1173664256 |
507 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs777630475 CA6917206 |
508 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1210015590 CA387570495 |
509 | E>D | No |
ClinGen gnomAD |
|
|
CA6917208 rs770603993 COSM1686196 |
509 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1467960464 CA387570511 |
511 | D>E | No |
ClinGen gnomAD |
|
|
CA6917209 rs182186243 |
511 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368025802 CA6917210 |
513 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 514 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370686149 CA6917213 |
515 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs61740542 CA6917212 |
515 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138014271 CA6917215 |
517 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs41288280 CA6917216 |
517 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387570548 rs41288280 |
517 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767752774 CA6917217 |
518 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA6917218 COSM3936269 rs750660820 |
522 | M>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1373026811 CA387570588 |
523 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 525 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs967156411 CA387570599 |
525 | A>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA246784455 rs967156411 |
525 | A>T | No |
ClinGen gnomAD |
|
|
rs1222361327 CA387570603 |
525 | A>V | No |
ClinGen gnomAD |
|
|
CA387570614 rs1317089656 |
527 | E>G | No |
ClinGen gnomAD |
|
|
CA6917220 COSM3376517 rs760696856 |
528 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1031193609 COSM172349 CA246784464 |
528 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1031193609 CA387570621 |
528 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387570618 rs760696856 |
528 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 531 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163014677 CA387570662 |
534 | S>T | No |
ClinGen TOPMed |
|
|
rs1248320483 CA387570676 |
536 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6917222 rs752565974 |
537 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1414538955 CA387570690 |
538 | I>N | No |
ClinGen TOPMed |
|
|
CA387570695 rs1593139153 |
539 | N>D | No |
ClinGen Ensembl |
|
|
rs758344417 CA6917224 |
539 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758344417 CA6917223 |
539 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917226 rs757041873 COSM266059 |
540 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs568449072 CA6917227 |
541 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745533727 CA6917228 |
542 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6917229 rs745533727 |
542 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs779712371 CA6917230 |
543 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs748868376 CA387570726 |
544 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748868376 CA6917231 |
544 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769204609 CA6917232 |
545 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6917233 rs774764907 |
546 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218840976 CA387570742 |
547 | K>E | No |
ClinGen TOPMed |
|
|
rs1323161612 CA387570746 |
547 | K>T | No |
ClinGen TOPMed |
|
|
rs1373659570 CA387570762 |
549 | T>I | No |
ClinGen gnomAD |
|
|
CA6917235 rs772346788 |
550 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs773383248 CA387570776 |
552 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs773383248 CA6917236 |
552 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs199687441 CA6917237 |
555 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs970005793 CA246784519 |
555 | T>I | No |
ClinGen TOPMed |
|
|
rs1291960526 CA387570801 |
556 | A>T | No |
ClinGen gnomAD |
|
|
rs759676833 CA6917240 |
558 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs990840570 CA246784530 |
559 | E>K | No |
ClinGen Ensembl |
|
|
rs1251665531 CA387570838 |
561 | G>D | No |
ClinGen gnomAD |
|
|
rs757024432 CA6917243 |
562 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535988383 CA6917244 |
562 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 562 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292149759 CA387570849 |
563 | L>S | No |
ClinGen TOPMed |
|
|
rs531975843 CA6917246 |
565 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6917248 rs374602919 |
566 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754499582 CA6917249 |
566 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310724006 CA387570880 |
569 | G>S | No |
ClinGen gnomAD |
|
|
CA387570902 rs1249238367 |
570 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6917269 rs758819737 |
571 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA246785350 rs895746544 |
572 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6917270 rs778317532 |
573 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs547730341 CA6917271 |
574 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs969154026 CA246785357 |
574 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA387570926 rs547730341 |
574 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781338964 CA6917273 |
576 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917275 COSM946168 rs769843394 |
579 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387570954 rs769843394 |
579 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775442166 CA6917276 |
581 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387570987 rs1256655819 |
583 | T>I | No |
ClinGen gnomAD |
|
|
rs982727145 CA246785375 |
584 | Y>C | No |
ClinGen Ensembl |
|
|
CA6917277 rs763161938 |
585 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs912513629 CA246785382 |
586 | F>S | No |
ClinGen gnomAD |
|
|
rs772106654 COSM1366013 CA6917278 |
587 | D>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs773336483 CA6917279 |
588 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917281 rs139332250 |
589 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6917280 rs150819395 |
589 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759125879 COSM183651 CA6917283 |
590 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1005294493 CA246785405 |
591 | M>I | No |
ClinGen TOPMed |
|
|
rs947513435 CA246785411 |
592 | N>S | No |
ClinGen Ensembl |
|
|
rs752142201 COSM1300087 CA6917285 |
594 | P>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6917286 rs752142201 |
594 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301297307 CA387571056 |
594 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs750526769 CA6917287 |
597 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA387571096 rs1169876107 |
600 | F>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 604 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387571134 rs1343168243 |
606 | M>T | No |
ClinGen TOPMed |
|
|
CA6917295 rs757573990 |
607 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6917296 rs535116028 |
608 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6917297 rs746041798 |
609 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA387571165 rs1388344681 |
611 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1409424618 CA387571184 |
614 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1409424618 CA387571183 |
614 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6917299 rs772485430 |
614 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387571190 rs1352413016 |
615 | P>R | No |
ClinGen gnomAD |
|
|
rs147302305 CA6917301 |
617 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387571204 rs1485189328 |
617 | A>V | No |
ClinGen TOPMed |
|
|
rs201131344 CA6917302 |
620 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1357644932 CA387571230 |
621 | C>* | No |
ClinGen gnomAD |
|
|
rs770792516 CA6917304 COSM946170 |
622 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6917303 rs760693820 |
622 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 624 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387571252 rs1436927705 |
625 | G>E | No |
ClinGen gnomAD |
|
|
CA387571255 rs759444596 |
626 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917307 rs764763644 |
626 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917306 rs759444596 |
626 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917308 rs752441122 |
627 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA246785897 rs980532292 |
630 | M>I | No |
ClinGen Ensembl |
|
|
rs1397794036 CA387571303 |
631 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA387571315 rs1397433644 |
633 | G>A | No |
ClinGen TOPMed |
|
|
CA6917333 rs140873439 |
633 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387571328 rs1229651053 |
635 | H>R | No |
ClinGen gnomAD |
|
|
rs1300259448 CA387571335 |
636 | P>H | No |
ClinGen gnomAD |
|
|
rs1300259448 CA387571337 |
636 | P>L | No |
ClinGen gnomAD |
|
|
rs1232093451 CA387571342 |
637 | I>T | No |
ClinGen gnomAD |
|
|
CA387571339 rs1345368778 |
637 | I>V | No |
ClinGen gnomAD |
|
|
CA6917335 rs756396773 |
639 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 640 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6917336 rs376193788 |
643 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144947069 CA6917337 |
645 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755239014 CA6917338 |
645 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA387571398 rs1190351279 |
646 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA387571396 rs1190351279 |
646 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6917339 rs779346879 |
648 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754254203 CA6917340 |
651 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs754254203 CA246785911 |
651 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1388627853 CA387571469 |
657 | E>K | No |
ClinGen gnomAD |
|
|
CA387571476 rs1436441089 |
658 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 658 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387571484 rs769407817 |
659 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs769407817 CA6917344 |
659 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA387571499 rs1386521585 |
661 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1369245830 CA387571495 |
661 | H>Y | No |
ClinGen gnomAD |
|
|
CA6917345 rs773901247 |
662 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM301343 CA6917346 rs370861260 |
662 | R>H | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA387571505 rs370861260 |
662 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773901247 CA387571503 |
662 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917347 rs148582032 |
663 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs531248710 CA246785923 |
665 | I>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
rs531248710 CA387571521 |
665 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA6917348 rs774042709 |
666 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1329840148 CA387571538 |
668 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 668 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387571564 rs1175601657 |
671 | N>I | No |
ClinGen TOPMed |
|
| TCGA novel | 671 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387571568 rs1456373952 |
672 | K>E | No |
ClinGen TOPMed |
|
|
rs767088904 CA6917350 |
673 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374530679 CA6917349 |
673 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387571597 rs1423741937 |
675 | A>S | No |
ClinGen gnomAD |
|
|
rs1423741937 CA387571599 |
675 | A>T | No |
ClinGen gnomAD |
|
|
rs142075579 CA6917374 |
676 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1460730023 CA387571607 |
676 | K>N | No |
ClinGen gnomAD |
|
|
rs141696352 CA6917375 |
676 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6917377 rs151141940 |
678 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387571620 rs1411181584 |
679 | V>M | No |
ClinGen gnomAD |
|
|
rs1007626615 CA246790724 |
680 | V>M | No |
ClinGen TOPMed |
|
|
rs753806985 CA6917380 |
683 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6917379 rs779920361 |
683 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 686 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375375813 CA246790733 |
687 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA6917381 rs140236944 |
688 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6917382 rs778697497 |
689 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1274250274 CA387571686 |
689 | S>R | No |
ClinGen gnomAD |
|
|
rs1430270091 CA387571697 |
690 | S>* | No |
ClinGen TOPMed |
|
|
rs1170443938 CA387571693 |
690 | S>T | No |
ClinGen TOPMed |
|
|
rs747952077 CA6917383 |
692 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1281881080 CA387571717 |
693 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA246790748 rs960685413 |
694 | D>N | No |
ClinGen Ensembl |
|
|
CA387571726 rs1566077240 |
695 | E>K | No |
ClinGen Ensembl |
|
|
CA6917385 rs777332198 |
697 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6917388 rs770585820 |
698 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6917386 rs746508142 |
698 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770585820 CA6917387 |
698 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1448071822 CA387571783 |
703 | I>V | No |
ClinGen gnomAD |
|
|
rs992085860 CA246790760 |
707 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs760123447 COSM1245699 CA6917389 |
707 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6917390 rs770226039 |
708 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917391 rs775980059 |
709 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61998252 CA6917393 |
711 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs529264503 CA6917394 |
711 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1566077263 | 711 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359755904 COSM41047 CA387571835 |
712 | Q>E | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA246790773 rs919989981 |
714 | L>M | No |
ClinGen gnomAD |
|
|
CA6917396 rs146486002 |
715 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387571877 rs1276685283 |
718 | E>G | No |
ClinGen gnomAD |
|
|
rs982714913 CA246790788 |
720 | C>F | No |
ClinGen gnomAD |
|
|
rs912557762 CA246790791 |
720 | C>W | No |
ClinGen gnomAD |
|
|
rs373330777 CA387571931 |
724 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373330777 CA6917415 |
724 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1159861134 CA387571940 |
726 | V>I | No |
ClinGen gnomAD |
|
|
CA387571952 rs1403449330 |
728 | A>T | No |
ClinGen gnomAD |
|
|
CA387571958 rs1237862542 |
729 | V>M | No |
ClinGen gnomAD |
|
|
rs1330811745 CA387571968 |
730 | T>S | No |
ClinGen gnomAD |
|
|
CA246791015 rs534380930 |
731 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1227805837 CA387571987 |
733 | G>A | No |
ClinGen gnomAD |
|
|
rs1566077545 CA387571983 |
733 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA387571995 rs1289092348 |
735 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6917420 rs376103487 |
738 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387572017 rs1331799647 |
738 | P>T | No |
ClinGen gnomAD |
|
|
CA387572027 rs1338586796 |
739 | A>V | No |
ClinGen Ensembl |
|
|
CA387572037 rs1215703057 |
741 | K>R | No |
ClinGen gnomAD |
|
|
rs781058012 CA6917424 |
743 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387572053 rs1566077586 |
743 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 746 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387572087 rs1593143556 |
748 | A>V | No |
ClinGen Ensembl |
|
|
rs1043365980 CA246791030 |
749 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387572097 rs1182244887 COSM469266 |
750 | G>R | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1048287466 CA246791035 |
751 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs751490484 CA246791047 |
758 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA387572175 rs1392971128 |
762 | D>G | No |
ClinGen gnomAD |
|
|
rs376366256 CA6917432 |
762 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376366256 CA6917433 |
762 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387572185 rs1327399668 CA387572183 |
763 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs754912467 CA6917435 |
763 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917434 rs371438244 |
763 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387572187 rs775429149 |
764 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1370440501 CA387572190 |
764 | V>G | No |
ClinGen TOPMed |
|
|
CA6917436 rs775429149 |
764 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1357536407 CA387572200 |
766 | L>Q | No |
ClinGen gnomAD |
|
|
rs762808986 CA387572206 |
767 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA6917437 rs762808986 |
767 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA387572205 rs1275946020 |
767 | D>N | No |
ClinGen TOPMed |
|
|
rs576503452 CA6917439 |
768 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576503452 CA6917440 |
768 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387572220 rs752493600 |
769 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA246791069 rs752493600 |
769 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1358661888 CA387572225 |
770 | F>L | No |
ClinGen TOPMed |
|
|
CA387572232 rs750121465 |
771 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM279046 CA6917443 rs750121465 |
771 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6917444 rs755643840 |
771 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6917445 rs779445159 |
772 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6917446 rs753446608 |
773 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779518377 CA6917448 |
774 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs992979300 CA246791129 |
781 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs143679413 CA6917460 |
781 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750039915 CA6917461 |
783 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6917462 rs369210106 |
785 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387572338 rs201231734 |
786 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs367667835 CA6917463 |
786 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200578986 CA6917465 |
788 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200578986 CA387572349 |
788 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779242576 CA6917466 |
790 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779242576 CA387572361 |
790 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917468 rs758697687 |
791 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917467 COSM357506 rs753236720 |
791 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 792 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387572400 rs1257540326 |
796 | T>S | No |
ClinGen TOPMed |
|
|
rs1566077737 CA387572403 |
797 | K>E | No |
ClinGen Ensembl |
|
|
rs913105662 CA246791153 |
798 | N>K | No |
ClinGen TOPMed |
|
|
CA387572419 rs1482401433 |
799 | I>F | No |
ClinGen TOPMed |
|
|
CA387572429 rs1355855396 |
800 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 801 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6917471 rs7328155 |
801 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6917474 rs199813337 |
806 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1423489224 CA387572471 |
807 | I>T | No |
ClinGen gnomAD |
|
|
rs769939401 CA6917476 |
807 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 808 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs948955972 CA246791162 |
809 | I>N | No |
ClinGen Ensembl |
|
|
CA6917478 rs774389452 |
810 | I>V | No |
ClinGen ExAC |
|
|
rs1431656812 CA387572496 |
811 | V>I | No |
ClinGen gnomAD |
|
|
rs772196577 CA6917480 CA6917481 |
812 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6917482 rs760558264 |
814 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 815 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA246791171 rs926405407 |
817 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6917483 rs537958485 |
819 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1365119693 CA387572547 |
820 | I>T | No |
ClinGen gnomAD |
|
|
rs1290993737 CA387572544 |
820 | I>V | No |
ClinGen gnomAD |
|
|
rs1301453739 CA387572557 |
822 | I>V | No |
ClinGen gnomAD |
|
|
CA387572594 rs1263447308 |
827 | L>F | No |
ClinGen gnomAD |
|
|
CA6917488 rs758885779 |
827 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1048068565 CA246791185 |
827 | L>V | No |
ClinGen gnomAD |
|
|
rs764648254 CA6917489 |
828 | G>R | No |
ClinGen ExAC |
|
|
CA6917490 rs751886753 |
828 | G>V | No |
ClinGen ExAC |
|
|
rs752128280 CA6917507 |
833 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6917508 rs139259925 |
834 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750551445 CA6917510 |
835 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1593145084 CA387572710 |
838 | A>S | No |
ClinGen Ensembl |
|
|
rs143249461 COSM946176 CA6917511 |
838 | A>V | pancreas endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368123804 CA6917515 CA6917516 |
839 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749358018 CA387572721 |
839 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749358018 CA6917513 |
839 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387572745 TCGA novel rs1222975491 |
840 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs770576902 CA6917517 COSM1706548 |
840 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387572769 rs1374252409 |
842 | A>G | No |
ClinGen TOPMed |
|
|
CA387572770 rs1374252409 |
842 | A>V | No |
ClinGen TOPMed |
|
|
rs1310949802 CA387572784 |
843 | E>D | No |
ClinGen TOPMed |
|
|
CA6917518 rs781024371 |
843 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387572804 rs1293852089 |
844 | S>R | No |
ClinGen gnomAD |
|
|
rs745714575 CA6917519 |
846 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369538817 CA387572849 |
847 | M>I | No |
ClinGen TOPMed |
|
|
rs769400717 CA6917520 |
847 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs898544106 CA246791880 |
847 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6917522 COSM1300089 rs762399901 |
852 | R>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM183653 CA6917523 rs768185894 |
852 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387572948 rs774652565 |
853 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6917524 rs774652565 |
853 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1184664311 CA387572971 |
854 | K>N | No |
ClinGen gnomAD |
|
|
CA387572981 rs1459949493 |
855 | N>I | No |
ClinGen TOPMed |
|
|
CA387572995 rs1245357240 |
856 | K>E | No |
ClinGen gnomAD |
|
|
rs1447978599 CA387573027 |
858 | R>G | No |
ClinGen gnomAD |
|
|
rs1419757610 CA387573038 |
858 | R>S | No |
ClinGen gnomAD |
|
|
rs576600296 CA246791896 |
858 | R>T | No |
ClinGen gnomAD |
|
|
rs372265674 CA6917525 |
859 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6917526 rs202010782 |
860 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs761170502 CA6917528 |
861 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs766660124 CA6917529 |
861 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA387573085 rs1338561545 |
862 | Q>E | No |
ClinGen gnomAD |
|
|
rs2289909 VAR_020186 CA6917531 |
863 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP |
|
|
CA6917533 rs2289909 |
863 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs778586831 CA6917532 |
863 | P>RCVLIPAHW* | No |
ClinGen ExAC |
|
|
rs1216461533 CA387573123 |
865 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs757211146 CA6917536 |
865 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387573131 rs1276581762 |
867 | Y>N | No |
ClinGen gnomAD |
|
|
rs1311607602 CA387573147 |
869 | Y>H | No |
ClinGen gnomAD |
|
|
rs781029638 CA6917537 |
870 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs962444073 CA246791921 |
871 | H>Y | No |
ClinGen Ensembl |
|
|
CA6917539 rs769595687 |
872 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA6917540 rs139434348 |
872 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387573165 rs769595687 |
872 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 873 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771514808 CA6917564 |
873 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA387573187 rs1321860194 |
874 | L>V | No |
ClinGen gnomAD |
|
|
rs1055610254 CA246792039 |
875 | M>R | No |
ClinGen gnomAD |
|
|
CA387573193 rs1339016461 |
875 | M>V | No |
ClinGen TOPMed |
|
|
rs1315118787 CA387573206 |
876 | Q>H | No |
ClinGen TOPMed |
|
|
rs747535938 CA6917566 |
878 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1566078769 CA387573225 |
879 | G>R | No |
ClinGen Ensembl |
|
|
rs1399807000 CA387573265 |
882 | L>P | No |
ClinGen TOPMed |
|
|
CA246792052 rs894416828 |
882 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 884 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387573297 rs1329438180 |
885 | F>L | No |
ClinGen TOPMed |
|
|
CA246792055 rs1005973407 |
886 | T>A | No |
ClinGen Ensembl |
|
|
rs368160174 CA387573323 |
887 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368160174 CA6917567 |
887 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368160174 CA6917568 |
887 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6917569 rs199531242 |
890 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6917570 rs201109498 |
892 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6917571 rs201805687 |
894 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6917572 rs763045603 |
895 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs376963957 CA6917574 |
896 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387573434 rs376963957 |
896 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM183654 CA6917575 rs756031037 |
896 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387573439 rs756031037 |
896 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766369708 CA6917576 |
899 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1593145386 CA387573487 |
900 | N>T | No |
ClinGen Ensembl |
|
|
rs1566078794 CA387573483 |
900 | N>Y | No |
ClinGen Ensembl |
|
|
CA6917580 rs367898749 |
902 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs778588362 CA6917579 |
902 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777410937 CA6917582 |
905 | W>G | No |
ClinGen ExAC TOPMed |
|
|
COSM1513905 CA387573601 rs1390853161 |
908 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA387573617 rs746587343 COSM1513904 |
909 | Y>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs954861387 CA246792099 |
910 | V>A | No |
ClinGen TOPMed |
|
|
CA6917584 rs370559446 |
910 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6917585 rs375389166 |
915 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387573706 rs1404749411 |
918 | G>R | No |
ClinGen TOPMed |
|
|
CA6917587 rs572114890 |
919 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1247733224 CA387573727 |
921 | W>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 924 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6917610 rs151327434 |
925 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387573770 rs1440328346 |
925 | Q>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 927 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772145977 CA6917611 |
927 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6917613 rs144052287 |
928 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387573813 rs1471186821 |
931 | W>L | No |
ClinGen gnomAD |
|
|
rs1269412666 CA387573811 |
931 | W>R | No |
ClinGen TOPMed |
|
|
CA6917616 rs570944775 |
932 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs763787448 CA6917618 |
933 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 933 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756757409 CA6917620 |
934 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6917619 rs751285245 |
934 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533596060 CA6917621 |
935 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6917622 rs761472175 |
935 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA246792352 rs1011286913 |
938 | F>L | No |
ClinGen Ensembl |
|
|
CA387573868 rs1298551505 |
940 | G>D | No |
ClinGen TOPMed |
|
|
rs1042401573 CA246792353 |
941 | I>F | No |
ClinGen Ensembl |
|
|
rs1259931597 CA387573876 |
941 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA246792357 rs902548316 |
945 | Q>K | No |
ClinGen gnomAD |
|
|
CA387573907 rs1566079086 |
946 | I>T | No |
ClinGen Ensembl |
|
|
rs780650215 COSM238889 CA6917624 |
950 | I>V | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs749567988 CA6917625 |
951 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA387573949 rs1278003817 |
953 | K>E | No |
ClinGen TOPMed |
|
|
rs143407024 CA6917629 |
955 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1366022 CA6917628 rs140886846 |
955 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA387573967 rs1157518218 |
956 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs151193546 CA387573978 |
957 | N>K | No |
ClinGen ESP |
|
|
rs773163219 CA6917630 |
959 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387573987 rs1465613742 |
959 | I>V | No |
ClinGen TOPMed |
|
|
CA246792375 rs895306346 |
961 | Q>E | No |
ClinGen Ensembl |
|
|
rs760853409 CA6917631 |
963 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA387574016 rs1261875411 |
963 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1261875411 CA387574017 |
963 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1290308348 CA387574022 |
964 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 968 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387574080 rs1358395936 |
970 | I>T | No |
ClinGen gnomAD |
|
|
rs371154921 CA387574085 |
971 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750018931 CA246792458 |
971 | W>C | No |
ClinGen Ensembl |
|
|
CA6917655 rs371154921 |
971 | W>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6917656 rs767054341 |
973 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA387574106 rs1389343925 |
974 | I>M | No |
ClinGen gnomAD |
|
|
CA246792462 rs999894974 |
975 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs772949018 CA6917657 |
975 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA246792467 rs974575006 |
976 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 977 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251301748 CA387574125 |
978 | I>V | No |
ClinGen gnomAD |
|
|
rs760037711 CA6917658 |
979 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs765928693 CA6917659 |
980 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs762703916 CA246792472 |
982 | L>V | No |
ClinGen Ensembl |
|
|
rs1396788431 CA387574160 |
984 | L>F | No |
ClinGen gnomAD |
|
|
rs374565037 CA6917660 |
985 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs556670310 CA6917661 |
986 | Y>C | No |
ClinGen 1000Genomes ExAC |
|
|
CA6917662 rs765775933 |
987 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA246792483 rs946816115 |
989 | G>E | No |
ClinGen Ensembl |
|
|
rs576506269 CA6917664 |
989 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6917665 rs777814305 |
990 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6917668 rs781315944 |
993 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387574212 rs1300964089 |
993 | A>T | No |
ClinGen gnomAD |
|
|
CA387574215 rs781315944 |
993 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 995 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377377645 CA387574247 |
998 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377377645 CA6917669 |
998 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150364553 CA6917670 |
1000 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1018616395 CA246792613 |
1003 | Y>S | No |
ClinGen Ensembl |
|
|
CA6917690 rs186599537 |
1004 | W>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387574311 rs1428595250 |
1005 | F>C | No |
ClinGen gnomAD |
|
|
CA387574318 rs1480725659 |
1006 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1007 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777622390 CA6917691 |
1007 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6917692 rs200233082 |
1008 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1405550429 CA387574327 |
1008 | V>L | No |
ClinGen gnomAD |
|
|
rs770597940 CA6917693 |
1009 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6917694 rs112835811 |
1009 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA387574331 rs770597940 |
1009 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769294165 CA6917696 |
1010 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387574343 rs1285705900 |
1011 | A>D | No |
ClinGen gnomAD |
|
|
CA6917698 rs763500436 |
1011 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162738612 CA387574349 |
1012 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6917699 rs764573892 |
1013 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs113428775 CA246792632 |
1013 | L>P | No |
ClinGen Ensembl |
|
|
CA6917700 rs751919950 |
1015 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs142324692 CA387574372 |
1016 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142324692 CA6917701 |
1016 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1406071671 CA387574380 |
1017 | Y>C | No |
ClinGen gnomAD |
|
|
CA387574391 rs1318349310 |
1018 | D>E | No |
ClinGen gnomAD |
|
|
CA387574392 rs1449840052 |
1019 | E>K | No |
ClinGen TOPMed |
|
|
CA387574402 rs1219714829 |
1020 | V>M | No |
ClinGen gnomAD |
|
|
rs143767595 CA387574406 |
1021 | R>G | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA6917703 rs750705892 |
1021 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6917702 rs143767595 |
1021 | R>W | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs756205311 CA6917704 |
1023 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA387574425 rs1231071134 |
1024 | F>S | No |
ClinGen gnomAD |
|
|
CA246792639 rs546376300 |
1024 | F>V | No |
ClinGen TOPMed |
|
|
rs1593146339 CA387574454 |
1028 | Y>S | No |
ClinGen Ensembl |
|
|
rs1353238672 CA387574458 |
1029 | P>A | No |
ClinGen TOPMed |
|
|
rs758327502 CA6917707 |
1030 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs139171595 CA6917722 |
1032 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139171595 CA387574494 |
1032 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760975839 CA6917723 |
1033 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA387574496 rs760975839 |
1033 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6917725 rs753934232 |
1034 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6917724 rs766749977 |
1034 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313987441 CA387574509 |
1035 | K>Q | No |
ClinGen gnomAD |
|
|
CA6917727 rs764055667 |
1037 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs755038409 CA6917726 |
1037 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA387574541 rs1300359253 |
1039 | Y>H | No |
ClinGen TOPMed |
No associated diseases with P54707
4 regional properties for P54707
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain | 163 - 384 | IPR000194 |
| domain | AAA+ ATPase domain | 175 - 361 | IPR003593 |
| domain | ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain | 40 - 106 | IPR004100 |
| active_site | ATPase, alpha/beta subunit, nucleotide-binding domain, active site | 375 - 384 | IPR020003 |
Functions
| Description | ||
|---|---|---|
| EC Number | 7.2.2.13 | Linked to the hydrolysis of a nucleoside triphosphate |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| potassium:proton exchanging ATPase complex | A protein complex that possesses hydrogen:potassium-exchanging ATPase activity; characterized in animal cells, where it maintains ionic gradients of K+ at the expense of ATP hydrolysis; The complex contains two obligatory subunits, the catalytic alpha subunit and a glycosylated beta subunit; two additional subunits, gamma and channel-inducing factor (CHIF), may also be present. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| ATPase-coupled cation transmembrane transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + cation(out) = ADP + phosphate + cation(in). |
| metal ion binding | Binding to a metal ion. |
| P-type potassium:proton transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + H+(in) + K+(out) = ADP + phosphate + H+(out) + K+(in). |
| P-type sodium:potassium-exchanging transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in). |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular potassium ion homeostasis | Any process involved in the maintenance of an internal steady state of potassium ions at the level of a cell. |
| cellular sodium ion homeostasis | Any process involved in the maintenance of an internal steady state of sodium ions at the level of a cell. |
| potassium ion import across plasma membrane | The directed movement of potassium ions from outside of a cell, across the plasma membrane and into the cytosol. |
| proton transmembrane transport | The directed movement of a proton across a membrane. |
| regulation of pH | Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. |
| sodium ion export across plasma membrane | The directed movement of sodium ions from inside of a cell, across the plasma membrane and into the extracellular region. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P13607 | Atpalpha | Sodium/potassium-transporting ATPase subunit alpha | Drosophila melanogaster (Fruit fly) | PR |
| P20648 | ATP4A | Potassium-transporting ATPase alpha chain 1 | Homo sapiens (Human) | PR |
| P05023 | ATP1A1 | Sodium/potassium-transporting ATPase subunit alpha-1 | Homo sapiens (Human) | PR |
| Q64436 | Atp4a | Potassium-transporting ATPase alpha chain 1 | Mus musculus (Mouse) | PR |
| Q8VDN2 | Atp1a1 | Sodium/potassium-transporting ATPase subunit alpha-1 | Mus musculus (Mouse) | PR |
| Q6PIE5 | Atp1a2 | Sodium/potassium-transporting ATPase subunit alpha-2 | Mus musculus (Mouse) | PR |
| Q6PIC6 | Atp1a3 | Sodium/potassium-transporting ATPase subunit alpha-3 | Mus musculus (Mouse) | PR |
| Q9WV27 | Atp1a4 | Sodium/potassium-transporting ATPase subunit alpha-4 | Mus musculus (Mouse) | PR |
| Q9Z1W8 | Atp12a | Potassium-transporting ATPase alpha chain 2 | Mus musculus (Mouse) | PR |
| P19156 | ATP4A | Potassium-transporting ATPase alpha chain 1 | Sus scrofa (Pig) | PR |
| P09626 | Atp4a | Potassium-transporting ATPase alpha chain 1 | Rattus norvegicus (Rat) | PR |
| P06685 | Atp1a1 | Sodium/potassium-transporting ATPase subunit alpha-1 | Rattus norvegicus (Rat) | PR |
| Q64541 | Atp1a4 | Sodium/potassium-transporting ATPase subunit alpha-4 | Rattus norvegicus (Rat) | PR |
| P54708 | Atp12a | Potassium-transporting ATPase alpha chain 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHQKTPEIYS | VELSGTKDIV | KTDKGDGKEK | YRGLKNNCLE | LKKKNHKEEF | QKELHLDDHK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LSNRELEEKY | GTDIIMGLSS | TRAAELLARD | GPNSLTPPKQ | TPEIVKFLKQ | MVGGFSILLW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VGAFLCWIAY | GIQYSSDKSA | SLNNVYLGCV | LGLVVILTGI | FAYYQEAKST | NIMSSFNKMI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PQQALVIRDS | EKKTIPSEQL | VVGDIVEVKG | GDQIPADIRV | LSSQGCRVDN | SSLTGESEPQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PRSSEFTHEN | PLETKNICFY | STTCLEGTVT | GMVINTGDRT | IIGHIASLAS | GVGNEKTPIA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IEIEHFVHIV | AGVAVSIGIL | FFIIAVSLKY | QVLDSIIFLI | GIIVANVPEG | LLATVTVTLS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LTAKRMAKKN | CLVKNLEAVE | TLGSTSIICS | DKTGTLTQNR | MTVAHLWFDN | QIFVADTSED |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HSNQVFDQSS | RTWASLSKII | TLCNRAEFKP | GQENVPIMKK | AVIGDASETA | LLKFSEVILG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DVMEIRKRNR | KVAEIPFNST | NKFQLSIHEM | DDPHGKRFLM | VMKGAPERIL | EKCSTIMING |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EEHPLDKSTA | KTFHTAYMEL | GGLGERVLGF | CHLYLPADEF | PETYSFDIDA | MNFPTSNLCF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VGLLSMIDPP | RSTVPDAVTK | CRSAGIKVIM | VTGDHPITAK | AIAKSVGIIS | ANSETVEDIA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| HRLNIAVEQV | NKRDAKAAVV | TGMELKDMSS | EQLDEILANY | QEIVFARTSP | QQKLIIVEGC |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QRQDAVVAVT | GDGVNDSPAL | KKADIGIAMG | IAGSDAAKNA | ADMVLLDDNF | ASIVTGVEEG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| RLIFDNLKKT | IAYSLTKNIA | ELCPFLIYII | VGLPLPIGTI | TILFIDLGTD | IIPSIALAYE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KAESDIMNRK | PRHKNKDRLV | NQPLAVYSYL | HIGLMQALGA | FLVYFTVYAQ | EGFLPRTLIN |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LRVEWEKDYV | NDLKDSYGQE | WTRYQREYLE | WTGYTAFFVG | ILVQQIADLI | IRKTRRNSIF |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| QQGLFRNKVI | WVGITSQIII | GLILSYGLGS | VTALSFTMLR | AQYWFVAVPH | AILIWVYDEV |
| 1030 | |||||
| RKLFIRLYPG | SWWDKNMYY |