Q01484
EV
Gene name |
ANK2 (ANKB) |
Protein name |
Ankyrin-2 |
Names |
ANK-2 , Ankyrin-B , Brain ankyrin , Non-erythroid ankyrin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:287 |
EC number |
|
Protein Class |
ANKYRIN REPEAT-CONTAINING (PTHR24123) |
Descriptions
Ankyrins are a widely expressed scaffold protein family, which mainly function to link great varieties of functionally related but structurally diverse integral membrane proteins. Autoinhibition in Ankyrin-2 and Ankyrin-3 is facilitated by the combinatorial and quasi-independent bindings of multiple disordered segments located in the linker and tail regions. These segments interact with the membrane binding domain's ANK repeats, adopting a head-to-tail conformation that inhibits the binding to membrane proteins.
Autoinhibitory domains (AIDs)
Target domain |
28-828 (Membrane binding domain) |
Relief mechanism |
Partner binding |
Assay |
Mutagenesis experiment, Deletion assay, Structural analysis |
Target domain |
28-828 (Membrane binding domain) |
Relief mechanism |
Partner binding |
Assay |
Mutagenesis experiment, Deletion assay, Structural analysis |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
10 structures for Q01484
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4D8O | X-ray | 220 A | PDB | ||
| 4RLV | X-ray | 349 A | A | 28-873 | PDB |
| 4RLY | X-ray | 250 A | A | 28-318 | PDB |
| 5Y4D | X-ray | 330 A | A | 28-693 | PDB |
| 5Y4E | X-ray | 234 A | PDB | ||
| 5Y4F | X-ray | 195 A | A/B | 430-873 | PDB |
| 5YIR | X-ray | 275 A | C/G/H | 1588-1614 | PDB |
| 5YIS | X-ray | 220 A | C/D | 1588-1614 | PDB |
| 6KZJ | X-ray | 150 A | A | 1499-1570 | PDB |
| 6M3Q | X-ray | 344 A | E | 951-1458 | PDB |
6322 variants for Q01484
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001342296 CA3049843 rs369260005 RCV001584061 RCV000315698 RCV002348100 |
19 | S>N | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000228758 CA301003 RCV002498851 rs769843073 RCV000170724 RCV002415720 |
27 | K>T | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001824994 RCV001545260 rs369877280 |
37 | R>C | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1463855073 RCV000816171 |
39 | A>S | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1085307623 CA357992917 RCV003409672 RCV000490229 |
41 | A>T | ANK2-related condition [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2153225129 RCV002037500 |
43 | N>D | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs145272651 RCV000865942 CA3049938 RCV000250584 RCV001433540 |
44 | L>V | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001070866 rs555003393 |
47 | V>A | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA357992958 rs1388701783 RCV000536280 |
47 | V>F | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000814136 RCV002501113 rs769893243 |
53 | G>A | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1328490060 RCV001060762 |
53 | G>R | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1328490060 RCV001196940 RCV003117839 |
53 | G>W | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002049560 rs2153225176 |
58 | N>D | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000170667 RCV000198561 CA300750 rs786205718 RCV002408735 |
59 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002493617 RCV002447318 RCV001308456 rs776254819 |
77 | V>M | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2153389915 RCV001971898 |
84 | L>M | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2098748989 RCV001934880 |
85 | G>E | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs2153390107 RCV002013258 |
93 | A>T | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000701794 RCV001839021 rs1562826841 |
114 | K>E | Long QT syndrome ANK2-associated Neurodevelopmental Disorder [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1554262276 CA357993713 RCV000631601 |
114 | K>R | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs869025359 RCV000208127 CA353914 |
115 | V>I | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs748761434 RCV000547302 RCV002456058 CA3050008 |
122 | N>S | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001296650 rs2098792890 |
126 | Q>H | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000559574 CA357993791 rs770384149 |
126 | Q>P | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001934801 rs778452771 |
127 | S>T | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP |
|
rs1275075425 RCV001916965 |
133 | P>A | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002030968 COSM3916991 COSM3916992 rs1275075425 |
133 | P>S | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP gnomAD |
|
rs2153534680 RCV001889944 |
141 | N>S | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs776735614 RCV001345825 |
147 | K>N | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001882451 RCV001146861 rs377660236 |
155 | N>T | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP |
|
CA353975 RCV000208307 rs764808318 |
160 | T>S | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001196542 COSM3696392 RCV002348644 RCV001314637 rs901601971 COSM3696391 |
178 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs758739035 RCV001902092 |
181 | I>V | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
CA103795822 RCV003278957 RCV000631707 rs780370907 |
185 | N>K | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1323749557 RCV001343808 |
204 | D>N | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
CA16611378 rs1060501163 RCV000467889 RCV003224286 COSM1742759 |
205 | T>N | biliary_tract Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1060501154 RCV000476864 RCV000619304 CA16611403 |
209 | A>S | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003344006 RCV000697972 rs764633047 |
220 | V>I | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001910528 rs2099389632 |
223 | K>E | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1261818090 RCV002010867 |
224 | M>L | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000656156 CA3050104 rs752395758 RCV001859997 |
248 | V>M | Long QT syndrome Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764008198 RCV003170423 COSM1131297 RCV001977095 |
255 | R>Q | Variant assessed as Somatic; MODERATE impact. Long QT syndrome prostate [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000766106 rs1276798019 |
256 | G>A | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000695092 rs1563105054 |
261 | F>L | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001860359 RCV000620489 rs1260008727 RCV002254936 RCV002476375 CA357919404 |
269 | P>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA300755 rs786205719 RCV000170668 RCV003162728 RCV001850431 RCV002485056 |
276 | R>K | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000291464 rs886059009 CA10617786 |
282 | V>L | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM4661561 rs761620495 RCV000472361 CA3050125 COSM4661560 |
290 | G>S | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000631700 CA3050127 RCV001756043 rs752213208 RCV002377357 RCV002492958 |
293 | D>N | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002224081 rs2153601483 RCV001372887 |
306 | A>P | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000382392 CA235655 RCV000170670 RCV000618444 RCV001094854 rs150226540 RCV000185493 |
321 | R>Q | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000170669 CA300760 RCV002381541 RCV000807130 rs753032598 |
321 | R>W | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001313143 rs2048981037 |
331 | N>K | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002398102 rs758931317 RCV002018124 |
348 | V>A | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001249372 RCV001751513 rs2049005904 |
357 | P>S | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2049012279 RCV001238153 |
365 | Y>N | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs759437203 RCV001545288 RCV000620071 RCV000631617 CA3050187 RCV002477354 |
371 | V>I | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001147767 RCV000170671 RCV000797519 CA300765 RCV002433731 RCV000766394 rs772102642 |
373 | A>V | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2153626751 RCV001930729 |
374 | H>R | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001458133 RCV002444681 rs143043717 RCV001151106 RCV000589070 RCV000170672 CA300770 |
379 | R>C | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs186264035 RCV002487815 RCV000818448 RCV002442741 |
379 | R>H | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000766395 RCV000170726 RCV000621881 RCV000793279 RCV002485061 CA301011 RCV000623600 rs186264035 |
379 | R>L | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1478665074 RCV001221054 |
380 | V>A | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs200799668 RCV001237126 |
388 | R>K | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000471770 rs752016285 COSM4654885 COSM4654884 CA3050195 |
391 | P>L | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001246914 rs147458476 |
393 | A>S | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA236921 RCV001050790 RCV000621489 RCV000171736 rs147458476 |
393 | A>T | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001230715 rs2050499312 |
403 | H>Y | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2050505540 RCV001321376 |
409 | N>S | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000170674 RCV003165343 RCV002516546 CA300780 rs760073103 |
418 | V>M | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3050233 RCV000727200 RCV001151107 rs750168379 RCV002518082 |
427 | I>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3599232 COSM3599233 rs144113099 RCV001507641 RCV002564209 RCV002384857 |
432 | L>F | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002045356 rs2050662885 |
436 | H>R | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001060505 rs2050679496 |
449 | L>F | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000808132 RCV001759548 RCV002495106 RCV003307492 rs1305931806 |
455 | A>D | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001942782 rs2153635253 |
458 | D>G | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs368129159 RCV000692861 RCV003279005 |
460 | T>A | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs368129159 RCV002015385 |
460 | T>P | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001908126 rs1420771855 |
463 | R>H | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
CA300790 rs786205722 COSM5356073 RCV001309714 RCV002390403 COSM1131296 RCV000625117 RCV000170676 |
466 | T>M | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome prostate breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000459367 CA16611566 rs1060501161 |
467 | A>S | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001151110 RCV003162452 rs36210415 RCV000058353 CA145045 |
475 | G>R | Cardiac arrhythmia, ankyrin-B-related Torsade de pointes [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003139879 rs1203193073 RCV000701747 CA357930982 RCV000656196 |
476 | Q>R | Long QT syndrome Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003170492 rs2055114546 RCV001992306 |
481 | R>Q | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001335720 rs1470709043 |
487 | G>C | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2153658293 RCV002507660 RCV001981545 |
492 | A>T | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs868445887 RCV001906466 |
495 | R>S | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001316349 COSM1182763 RCV003166814 rs760370075 |
506 | R>H | large_intestine Long QT syndrome [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA3050313 RCV000548031 rs765190989 |
522 | H>Y | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3428060 rs1198719430 COSM3428059 RCV000694408 RCV002285400 |
525 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs374707634 RCV002516547 RCV000170678 CA300800 |
527 | T>A | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002502576 RCV000440396 RCV002402202 rs753139159 CA3050319 |
538 | A>V | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001567463 COSM167990 rs927869437 RCV001866007 |
539 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001300584 RCV000170679 CA300805 rs756495481 RCV000617944 |
539 | R>W | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000631557 RCV003224353 RCV002404739 CA3050321 rs749734339 |
543 | V>M | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3050331 RCV001753877 RCV002402245 RCV002506111 RCV000477137 rs766431760 |
555 | A>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs749342854 RCV002402518 RCV001151111 |
556 | H>R | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs139199018 RCV000477764 RCV002402157 RCV000421952 RCV000766417 RCV001065919 CA3050334 |
558 | L>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002413848 RCV001359935 rs2060790981 |
566 | P>S | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1400057725 RCV001228759 |
571 | A>S | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1278355638 RCV001339890 |
576 | L>V | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002491670 RCV001216744 rs777474558 |
586 | R>C | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1288246947 RCV001220643 RCV002402665 |
589 | A>T | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2061066852 RCV001050435 |
605 | H>R | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs898855441 RCV001981981 |
605 | H>Y | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP |
|
rs370070322 RCV001238031 |
610 | K>M | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000706692 rs780091077 |
613 | L>M | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000525540 rs1554403792 CA357912404 |
622 | P>A | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001145000 rs1349862041 |
625 | T>A | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs929567243 RCV002544171 RCV001766139 RCV002414332 |
632 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV002408736 RCV000461769 RCV000170681 rs150488571 CA300815 RCV000852969 |
637 | A>V | Variant assessed as Somatic; MODERATE impact. Long QT syndrome Primary dilated cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002025630 RCV003170557 rs2153713584 |
640 | N>K | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001913218 rs759958342 |
640 | N>S | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000170682 RCV003398876 CA300820 rs786205724 |
646 | S>F | ANK2-related condition [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16611571 rs191468663 RCV000465652 |
650 | N>T | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001755386 RCV002488609 RCV001868667 rs779699159 |
665 | P>Q | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001324803 RCV002418974 rs758281393 RCV002493695 |
665 | P>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA357914146 rs1346440015 RCV000542682 |
671 | Q>K | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs947398548 RCV002416398 RCV001054012 |
673 | G>V | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs748195396 RCV001209600 |
676 | D>E | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001346871 rs749503484 RCV001586035 RCV001192817 |
682 | L>V | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1200160910 RCV001944444 RCV002423093 |
685 | G>A | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002422893 RCV002039420 rs1200160910 RCV002223317 |
685 | G>V | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000171786 RCV000700217 CA199873 VAR_055504 RCV002415721 RCV000477910 RCV001711458 rs29372 |
687 | N>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000550464 rs746436835 RCV000244958 RCV000786101 CA3050427 |
688 | I>N | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs761413864 CA301021 RCV002492697 RCV000170729 RCV002247577 |
692 | T>A | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002422567 RCV000701134 rs756016862 |
703 | A>V | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
CA236521 RCV001217739 rs139197937 RCV000247687 RCV000171591 RCV002478545 |
704 | Q>E | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs36210416 RCV000058354 CA145050 |
708 | V>M | Torsade de pointes [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002557150 rs779008591 RCV001146954 |
710 | V>I | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA300692 RCV000631636 rs199681788 RCV001721096 RCV002426806 |
715 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000170651 rs748835902 CA300697 RCV002415719 RCV001060008 |
720 | D>E | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554422359 CA357915804 RCV000538436 |
720 | D>N | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002424677 rs868661838 RCV000698532 |
735 | A>V | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1450953871 RCV001302781 |
739 | G>A | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs147053743 RCV002012986 |
743 | M>T | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000621543 CA3050488 rs371787039 RCV000756993 RCV002253404 RCV001079965 |
750 | Q>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001366207 RCV002444682 RCV000852551 RCV000170683 rs368809372 CA300825 |
756 | A>T | Long QT syndrome Ventricular tachycardia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16611572 RCV000466188 rs1060501162 RCV000786096 |
760 | N>K | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3050513 RCV001753818 RCV000364664 rs774769455 |
761 | G>S | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1279672563 RCV002019417 |
763 | T>R | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001928872 RCV003339828 rs947769072 |
776 | I>V | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV002568286 rs757964072 RCV001546992 |
777 | I>V | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs754601230 RCV002447132 RCV001225849 |
782 | Q>R | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001247540 rs1474018346 |
789 | A>D | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs141829855 RCV003434349 RCV001915649 |
790 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000617784 rs769106499 RCV003403427 RCV001836850 RCV002531776 CA3050562 |
795 | N>T | Complex neurodevelopmental disorder Long QT syndrome ANK2-related condition [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001315263 rs374355225 CA3050575 RCV000619061 |
822 | T>N | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001885082 RCV002458594 rs772263458 RCV001755367 |
823 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000171593 rs786205420 CA204248 RCV000190218 |
825 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002482390 RCV002449444 RCV001844544 rs770530257 RCV002543307 |
826 | T>missing | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001084886 RCV000766396 RCV000170723 CA300998 RCV000621989 rs770530257 |
826 | T>missing | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000229026 rs750428090 RCV000619672 CA300707 RCV000170653 |
827 | I>V | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2153794168 RCV002037998 |
843 | L>I | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002504238 RCV002429875 rs1178600130 RCV001204998 |
853 | T>P | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2079826770 RCV001873846 RCV002425111 |
860 | E>A | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs1400444798 RCV001296176 |
863 | R>T | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs878854258 RCV000231867 CA10582208 |
866 | D>E | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2079844190 RCV001324006 |
878 | S>N | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001051684 rs1431478981 |
879 | Q>H | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs769599000 RCV001346952 |
884 | M>V | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000170684 CA300830 COSM159057 RCV002485057 RCV002516548 RCV001852035 rs751513548 |
895 | R>Q | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related urinary_tract Long QT syndrome breast Inborn genetic diseases [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs759275920 RCV000170730 RCV000766397 CA301026 RCV000688545 |
905 | D>N | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs139259028 RCV001256939 |
912 | H>R | Conduction disorder of the heart [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001322899 rs757479095 |
912 | H>Y | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001940477 rs1215559209 |
919 | S>G | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs928589458 RCV001986232 |
919 | S>I | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs777302517 RCV002482555 RCV001865158 |
921 | V>M | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2083706279 RCV002489978 RCV001878385 |
923 | D>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001998399 RCV002441141 rs756666052 |
935 | T>P | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2153837127 RCV001877364 |
935 | T>S | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA300835 rs786205725 RCV000170685 RCV002515224 RCV002247576 |
936 | L>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2153837134 TCGA novel RCV001894964 |
937 | A>V | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA Ensembl dbSNP |
|
rs778597568 RCV002433735 RCV002478531 CA301036 RCV000170732 |
938 | K>M | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000434636 RCV000865641 CA3050681 rs537484483 RCV000620560 RCV001148158 |
940 | A>G | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000821359 RCV000170687 CA300845 rs771898745 |
942 | R>S | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002489021 RCV000472336 RCV002436404 COSM3428064 RCV003221987 COSM1426442 rs200524407 CA3050683 |
946 | R>C | large_intestine Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002433730 RCV001364557 CA300712 RCV003313048 rs768671380 |
946 | R>H | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000823418 rs1437372961 COSM1050219 RCV002434023 |
950 | G>D | Variant assessed as Somatic; MODERATE impact. endometrium Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs773635091 RCV000470863 CA3050687 RCV003237850 |
951 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1290824364 RCV001296090 |
955 | D>G | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs756861229 RCV003307562 RCV000823471 RCV002487855 |
957 | V>M | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002434026 RCV000823745 rs750129234 RCV001776042 |
964 | I>V | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001998736 RCV002441153 rs200658794 |
966 | S>L | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001057242 rs367583875 |
967 | G>R | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs977347770 RCV002038298 |
976 | A>T | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs747390978 RCV000695912 RCV002440479 |
977 | R>Q | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000228553 CA3050749 RCV002503897 rs769214999 |
982 | R>Q | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554508985 COSM4661571 RCV002286746 COSM4661570 CA357935038 RCV000522780 |
990 | R>* | Variant assessed as Somatic; HIGH impact. Cardiac arrhythmia, ankyrin-B-related [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
CA300858 RCV000170690 rs373261456 RCV000824532 RCV000621551 RCV002485058 |
990 | R>Q | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002436796 RCV001206830 rs928622061 |
994 | P>T | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001048491 rs200124480 CA3050752 RCV002485445 RCV000245375 RCV000223799 |
996 | R>Q | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2092053203 RCV001339934 |
998 | C>G | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002290673 rs2092061253 RCV001266831 |
1007 | R>* | Cardiac arrhythmia, ankyrin-B-related Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000698765 RCV002442486 rs1563809304 |
1023 | G>E | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001358725 CA300863 RCV002444683 rs151127289 RCV000321541 RCV000170691 RCV001094870 |
1023 | G>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA300868 RCV001094871 RCV000376133 rs773532854 RCV001001077 RCV000170692 RCV000621420 |
1025 | G>A | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000430332 rs773532854 RCV001861567 RCV002319494 CA3050762 |
1025 | G>V | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000170693 CA300873 RCV001308362 RCV002319449 rs786205726 |
1028 | S>G | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA300878 RCV002498850 RCV000533349 rs773701459 RCV000170694 |
1029 | R>C | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM4661573 RCV001760013 rs758980553 COSM4661574 RCV001059122 |
1029 | R>H | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001232031 rs2092088890 |
1033 | V>I | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000170734 CA301046 rs786205735 RCV001206051 RCV002321681 |
1048 | T>M | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM3945897 rs768427721 RCV001368300 COSM3945896 |
1052 | P>Q | lung Long QT syndrome [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs768427721 RCV001948083 |
1052 | P>R | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1486672262 RCV001996318 |
1053 | L>H | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA3050791 RCV000631604 rs45541631 |
1059 | L>S | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774214850 RCV000472961 CA16611578 |
1079 | V>M | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM4121451 rs1232729014 RCV001967202 COSM1050221 |
1088 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001266503 rs754235325 |
1098 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002022468 rs764760708 |
1098 | R>H | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001372857 RCV002476704 rs779625857 |
1099 | S>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs150841275 RCV001149717 RCV002320377 RCV001236872 |
1113 | T>A | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2092851085 RCV001210051 |
1124 | M>K | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000756992 RCV002458357 RCV001227426 rs1043468981 |
1125 | D>H | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
COSM1739012 RCV001928165 rs1163043823 |
1128 | L>V | Long QT syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
COSM3599248 COSM3599249 rs1353812954 RCV001054450 |
1138 | R>Q | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002451656 RCV001296344 RCV002511072 rs2093465785 TCGA novel RCV002493556 |
1145 | R>Q | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV002000809 rs1226848625 |
1149 | Q>R | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs376536631 RCV003167374 RCV001946214 |
1152 | A>V | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001149720 rs2093471540 |
1166 | P>S | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001907561 rs2153958712 |
1169 | G>D | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002035806 rs755716405 |
1172 | S>N | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001852036 RCV001196272 CA300883 rs777113752 RCV000170695 |
1176 | V>L | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002492695 RCV000780830 rs780110299 COSM3825003 CA300893 COSM3825002 RCV000558223 RCV002453574 RCV000170697 |
1191 | R>Q | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000698162 COSM216654 CA300888 rs771751897 COSM4328937 RCV000170696 RCV002485059 |
1191 | R>W | Variant assessed as Somatic; MODERATE impact. pancreas Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA301051 RCV000706533 RCV000170735 rs148287474 |
1193 | R>C | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs761941047 CA3050866 RCV000462470 |
1193 | R>H | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA301056 RCV000766400 RCV002492698 rs375594801 RCV000170736 RCV003298198 |
1208 | K>T | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001299476 rs758014143 |
1211 | G>D | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001373972 rs1488446208 |
1212 | N>K | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001145404 rs766019055 |
1214 | A>P | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001059573 rs766019055 RCV002451250 |
1214 | A>T | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001933602 rs754740031 |
1218 | P>A | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001321061 CA3050896 RCV000498575 rs754740031 RCV002455954 |
1218 | P>S | Long QT syndrome Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001868741 rs777976430 RCV001768314 |
1234 | T>S | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2093587081 RCV001947432 |
1236 | T>S | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs764537997 RCV001215624 RCV003328658 |
1256 | P>Q | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001226386 rs1412760053 |
1257 | T>N | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001851385 rs1385787370 CA357906513 RCV000497508 RCV000621597 |
1277 | T>S | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2093970685 RCV001206876 |
1283 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000704925 rs1563885033 |
1286 | N>K | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs750510790 CA3050961 RCV002481516 RCV000481823 |
1305 | R>Q | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA300898 RCV001175061 RCV000467208 RCV000170698 rs34065266 RCV000619169 |
1311 | V>I | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs146261470 RCV002369893 RCV000695981 |
1317 | V>I | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1261943601 RCV002370310 COSM3696395 RCV001885100 COSM271823 RCV001768393 |
1324 | V>I | Variant assessed as Somatic; MODERATE impact. large_intestine Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs778074732 RCV001852037 CA300903 RCV000170699 |
1327 | M>V | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs868750741 RCV001912767 |
1328 | A>S | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1386325913 RCV002024197 |
1337 | H>Q | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs371357815 RCV001260348 RCV002354415 RCV000200456 CA300908 RCV000170700 |
1339 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001374094 rs2094332851 |
1340 | I>V | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000588669 rs765236990 RCV001323055 CA3050973 |
1349 | M>V | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001322025 rs2094335593 |
1355 | D>G | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs764532145 RCV001888957 |
1383 | V>I | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002331397 rs764532145 RCV001897324 |
1383 | V>L | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1588650941 RCV000822709 |
1394 | K>T | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA236536 RCV000171595 RCV001374226 rs200648573 |
1407 | K>R | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000535755 rs201966564 RCV001755801 RCV002490960 CA3051028 |
1417 | V>I | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001836896 rs749093363 COSM268107 RCV002332656 RCV000808524 |
1418 | R>C | kidney Variant assessed as Somatic; MODERATE impact. large_intestine Long QT syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1050226 RCV000852552 rs745771608 |
1419 | D>N | endometrium Hypertrophic cardiomyopathy [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002331509 RCV001992374 RCV002492069 rs779367457 |
1420 | T>M | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2094800597 RCV001301544 |
1432 | K>R | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001996018 RCV002331567 rs755562417 |
1433 | E>D | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000250831 RCV000698260 CA300913 RCV000852553 RCV002478528 rs142534126 RCV000170701 |
1437 | T>M | Cardiomyopathy Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000363942 CA218791 RCV000058355 RCV000852554 RCV000247414 rs34591340 RCV000987467 |
1439 | G>C | Cardiomyopathy Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001203474 rs758274171 |
1439 | G>V | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2094803447 RCV001147338 |
1440 | L>R | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001335721 rs2094804945 |
1447 | N>* | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554536556 CA357913432 RCV000509089 |
1451 | T>A | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002326934 rs369038140 RCV000766404 RCV001037127 RCV002485062 CA301071 RCV000170739 |
1457 | K>E | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000019672 VAR_022934 CA127763 RCV000244762 rs72544141 RCV000170702 RCV000019673 RCV000058356 RCV000845369 RCV001002092 RCV000171737 |
1458 | E>G | Conduction disorder of the heart Long QT syndrome 4 Cardiac arrhythmia, ankyrin-B-related Congenital long QT syndrome Long QT syndrome LQT4; uncertain significance; abnormal calcium ion homeostasis, when tested in a heterologous system [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000619903 RCV001204369 RCV003117426 RCV002477348 rs761254386 CA3051078 |
1465 | Q>K | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1588822287 RCV000814340 |
1471 | M>K | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001068231 rs1183478602 |
1478 | E>K | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001346082 rs1441559995 |
1479 | T>A | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002499566 rs762685310 RCV001303818 |
1479 | T>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16611581 rs1060501157 RCV000468782 |
1482 | T>P | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001928251 rs1174581645 |
1485 | S>P | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000764525 RCV000437323 RCV000253621 rs149678604 CA3051107 RCV000477573 |
1486 | V>L | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201071074 CA3051113 RCV000578058 RCV000535901 RCV002330829 |
1501 | P>L | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1588889129 RCV000809776 |
1513 | D>G | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001903112 rs1197349405 |
1514 | L>W | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002336407 RCV000171738 rs200920714 CA236926 RCV001050671 |
1519 | A>S | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1463969796 RCV001065543 |
1530 | G>R | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs767390750 RCV001246224 RCV002339683 |
1540 | A>P | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000269352 RCV002338945 CA3051126 rs767390750 RCV001094873 |
1540 | A>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002334820 rs144447291 RCV001891289 |
1540 | A>V | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP dbSNP gnomAD |
|
RCV002329389 rs760684730 RCV001369983 |
1545 | P>T | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2154016099 RCV001364614 |
1550 | E>Q | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003330849 CA357915316 RCV000631618 rs1554550305 |
1558 | D>G | Long QT syndrome 4 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001759491 RCV000792296 RCV002334468 rs1476737595 |
1563 | N>H | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2154016319 RCV002017948 |
1570 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000631626 CA357916379 rs1554550403 |
1577 | S>G | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001344628 CA357916405 RCV000619610 rs1554550420 |
1578 | V>M | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA236929 RCV000613422 RCV000171739 rs138842207 RCV000360584 RCV000606830 RCV000242956 |
1582 | R>Q | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000621628 CA199878 RCV003430716 COSM259420 RCV000171787 RCV001094874 rs35249198 RCV000157108 |
1582 | R>W | large_intestine Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs774190348 RCV001364684 |
1583 | S>F | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001977263 rs771802296 RCV002334993 RCV003434375 |
1593 | V>F | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3051142 RCV000489329 rs775386505 RCV000617304 RCV001043339 |
1594 | I>M | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001148271 RCV001045573 rs776426910 RCV002339228 |
1604 | R>K | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002006567 rs761919137 |
1607 | A>V | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP |
|
RCV000203177 RCV001041212 rs765274871 RCV000764526 RCV000766405 CA249388 |
1612 | T>I | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001937312 rs1380399876 |
1614 | Y>N | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA204253 rs755287627 RCV000190219 |
1626 | K>E | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1588896415 RCV000823636 |
1630 | E>D | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002343637 RCV000806508 RCV000779703 rs748573794 |
1638 | N>D | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1481921543 RCV001892608 |
1643 | D>Y | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs373344024 RCV002499767 RCV001373436 RCV002341807 |
1644 | L>M | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1268423479 CA357917562 RCV000631572 |
1653 | E>D | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs199473343 RCV000058357 CA329745 |
1655 | L>M | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs776676676 RCV002350584 RCV001318995 |
1661 | K>E | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs908995394 RCV001242170 |
1661 | K>N | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002348252 CA3051161 RCV001148272 rs761759361 RCV001297694 RCV000423841 |
1661 | K>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA357917692 RCV000631588 rs1230654392 |
1662 | A>T | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000476360 CA16611387 rs1060501158 |
1663 | G>E | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA10587584 RCV000253316 RCV002518686 rs886038862 |
1673 | R>G | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001886565 rs2095555189 |
1674 | S>G | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs767751731 RCV000321139 CA3051168 |
1680 | K>R | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001038923 rs756720499 |
1683 | P>T | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002488185 rs900402464 RCV001374062 |
1687 | T>K | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000695970 RCV002334318 RCV002477578 rs369680021 RCV003319408 |
1688 | Q>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000792042 rs1588902519 |
1698 | L>M | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001864833 rs2154018839 |
1699 | G>R | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs773125026 RCV002344044 RCV001931081 |
1712 | Q>H | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1012849066 RCV001209096 COSM3765106 |
1714 | Q>R | Long QT syndrome central_nervous_system [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV000631701 rs141790688 RCV002483782 CA3051185 |
1718 | G>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003413827 RCV001040011 rs2095565316 |
1734 | E>G | Long QT syndrome ANK2-related condition [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1458341997 RCV001931753 |
1737 | L>S | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2095566161 RCV001040444 |
1738 | G>missing | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001194188 RCV000498222 rs147706514 CA3051190 RCV001252394 RCV000243394 RCV001239833 |
1744 | A>D | Intellectual disability Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA103812098 RCV000806453 rs924439034 RCV000624335 |
1744 | A>T | Long QT syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000619336 CA3051192 rs751038588 RCV003227806 RCV000820008 COSM1050230 |
1745 | P>R | endometrium Long QT syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP |
|
CA3051194 rs200628845 RCV000374008 RCV000604136 RCV000250203 RCV001094875 RCV001722369 |
1747 | P>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001935685 rs1468122749 RCV002484509 |
1750 | T>I | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001974486 rs1352494306 |
1769 | K>E | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs199609429 RCV002561871 RCV001215612 |
1772 | A>T | Long QT syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001149829 rs2095572224 |
1776 | R>G | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs150207892 RCV002568436 RCV001565735 RCV002343743 |
1776 | R>Q | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10619947 rs886059014 RCV001753819 RCV000279511 RCV002348101 RCV001094915 |
1777 | V>L | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs777085522 RCV001344375 RCV002493765 |
1784 | R>P | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777085522 RCV002346255 RCV002012501 |
1784 | R>Q | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs527462024 RCV001203393 |
1789 | I>L | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002345582 RCV000171740 rs148921195 CA236932 RCV001088809 |
1791 | V>I | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2095576901 RCV001304099 |
1797 | V>A | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000780840 RCV000823674 rs531261130 RCV002343638 COSM731896 |
1809 | A>V | lung Variant assessed as Somatic; MODERATE impact. large_intestine Long QT syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002486464 RCV001352286 rs200645469 RCV002350664 |
1811 | P>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001316507 rs200645469 RCV002350577 |
1811 | P>T | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1554552296 CA357919505 RCV001764532 RCV000554429 |
1813 | L>P | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001941205 rs2154019711 |
1818 | H>Q | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002348581 rs753589550 COSM254521 RCV001149830 |
1819 | A>V | Cardiac arrhythmia, ankyrin-B-related urinary_tract [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001220900 rs2095583147 |
1821 | G>R | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000631678 CA3051243 rs144773694 |
1832 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001325877 rs1194139877 RCV002350604 |
1833 | L>F | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000807586 rs1194139877 |
1833 | L>V | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2095587012 RCV002503479 RCV001895800 |
1836 | S>C | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000422285 RCV000689369 COSM731895 CA068274 RCV000208071 RCV002345747 rs199527708 RCV001149831 |
1837 | A>T | lung Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002345754 RCV002477812 rs763795429 RCV000796008 RCV002249506 |
1839 | T>P | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2095590693 RCV001213871 |
1848 | S>A | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000472581 CA3051255 rs141212932 RCV001149832 RCV002348298 RCV003418164 |
1857 | V>E | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome ANK2-related condition [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs781312863 RCV001349852 RCV002350655 RCV001776215 |
1859 | P>T | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001319024 rs2095591008 RCV002350586 RCV003223722 |
1861 | A>missing | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2095594880 RCV001901317 |
1861 | A>T | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1588916046 RCV000815490 |
1861 | A>V | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs536962908 COSM201683 RCV001041999 |
1863 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001307469 rs2095596617 |
1866 | H>L | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA3051261 rs771441107 RCV000554967 RCV002483366 |
1867 | S>A | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001853293 RCV002470815 RCV000208332 CA353985 rs869025360 |
1870 | S>L | Long QT syndrome 2 Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222338 RCV002480730 rs1227210695 |
1873 | S>N | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2154020296 RCV001889495 |
1874 | K>E | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1554553071 COSM1309637 RCV000631650 CA357920572 |
1876 | E>K | Variant assessed as Somatic; MODERATE impact. urinary_tract Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1262224136 RCV002028056 |
1880 | P>S | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs762824375 RCV001868097 CA3051268 RCV000619045 |
1881 | V>L | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1182264095 RCV001309968 |
1883 | P>H | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002487056 RCV000233477 RCV000434082 CA3051269 rs150737736 RCV002347876 |
1884 | S>L | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001989814 rs2095603402 |
1893 | V>L | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs777799981 RCV002243589 |
1904 | V>I | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs147547363 RCV002479308 RCV001050180 RCV002348392 |
1913 | R>C | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002001529 rs1480689138 |
1913 | R>H | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
COSM309106 RCV001247699 rs1483719390 |
1914 | P>L | lung Long QT syndrome [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV000617415 RCV001264521 rs140189724 CA3051285 RCV003233762 RCV001149833 RCV001055077 |
1920 | G>R | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000543446 CA357921255 rs1554553719 |
1925 | H>Y | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002019945 rs764446660 |
1926 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001964509 COSM201684 rs779278730 |
1929 | S>L | Variant assessed as Somatic; MODERATE impact. large_intestine Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001071296 RCV002480443 rs759195568 |
1939 | V>L | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000914759 rs527552716 |
1945 | T>S | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003138028 rs200333546 RCV002013051 |
1946 | D>N | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs780648194 RCV001145496 RCV002261291 |
1948 | H>Q | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001369116 rs2154020988 |
1953 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA3051322 RCV000294520 RCV002356477 rs371556220 RCV001299770 |
1954 | A>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001349428 RCV001762597 rs2095620859 |
1965 | P>S | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001231162 rs1320080856 |
1974 | P>T | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000349415 RCV001483696 RCV002356478 CA3051332 RCV001557867 rs531574502 |
1979 | S>L | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1455187261 RCV001317567 RCV001776194 |
1986 | E>G | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2154021231 RCV003163979 RCV001837212 |
1988 | M>T | Neurodevelopmental disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs755548985 RCV000812368 |
1991 | R>L | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001316003 rs755548985 |
1991 | R>P | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002352630 rs755548985 RCV001982581 |
1991 | R>Q | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000815211 COSM1050234 rs1442984107 |
1991 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1217769701 RCV001924669 |
1994 | M>R | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs769840245 RCV001325652 |
2016 | A>V | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP |
|
rs774595471 RCV001145497 |
2025 | G>S | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000498918 RCV002496887 rs759970012 CA3051357 |
2026 | K>N | Cardiac arrhythmia, ankyrin-B-related Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002352716 RCV001989485 rs1403186964 |
2029 | V>L | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
TCGA novel rs1226590997 RCV002009063 RCV003339872 |
2030 | E>K | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002356479 RCV001861224 RCV000385410 CA3051361 rs764677814 |
2034 | G>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001939001 rs151268188 |
2035 | P>L | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002359404 RCV001918197 rs140462708 |
2040 | R>T | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001325266 rs1014242925 |
2045 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001702696 CA3051371 RCV001145498 rs201628725 RCV002358765 RCV000631653 |
2048 | Q>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs796052197 RCV000190220 CA204256 |
2050 | I>T | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001878709 rs2154021788 |
2053 | G>A | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002356938 RCV002497750 rs146531225 RCV001219994 |
2057 | P>L | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001729424 RCV000171741 RCV000195655 CA236935 RCV000625123 rs200765866 RCV000618281 COSM1426451 |
2059 | T>M | large_intestine Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1194235291 RCV001753195 RCV001868721 |
2062 | A>G | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000227317 RCV000625124 RCV000251053 RCV000157109 RCV001699212 CA346171 rs149645600 |
2069 | R>H | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001225850 RCV002356958 rs749398563 |
2073 | I>V | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs144848998 RCV002362876 RCV002307431 RCV001085787 RCV001147448 RCV003447513 CA236938 RCV000171742 |
2076 | K>N | Cardiac arrhythmia, ankyrin-B-related Congenital long QT syndrome Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001296922 COSM340683 rs2095651333 |
2089 | S>R | lung Variant assessed as Somatic; MODERATE impact. Long QT syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
RCV001911701 rs781709192 RCV002361202 |
2096 | V>I | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001370969 RCV002357263 rs1004588860 |
2106 | R>G | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs2095653777 RCV001346324 |
2107 | E>G | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA3051397 rs751026615 RCV000428992 RCV001316082 |
2109 | E>K | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001297273 rs745883307 |
2122 | M>V | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2154022300 RCV001889247 |
2124 | L>P | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001069217 rs780418271 |
2125 | Q>P | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs879253759 RCV000234908 CA10584019 |
2133 | S>F | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002544220 RCV001776799 rs2154022426 |
2144 | L>S | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002486529 RCV002008339 rs1301230685 |
2148 | D>Y | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes dbSNP gnomAD |
|
RCV000208513 rs752318984 CA354042 |
2154 | R>H | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs763973483 RCV001224276 |
2157 | E>K | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
CA3051421 RCV000998275 RCV003168768 RCV001147450 RCV000462452 rs149292242 |
2169 | V>I | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000810017 rs1588946738 |
2172 | S>R | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs749429192 RCV000703591 RCV002485746 RCV002360813 |
2177 | T>missing | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1421417952 RCV000621474 RCV001062401 CA357924265 |
2182 | Y>C | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000406758 RCV003298405 RCV001567317 RCV001850841 rs773708100 CA3051431 |
2183 | M>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2154022736 RCV001911674 |
2185 | D>N | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000157110 CA346174 RCV001753551 rs730880047 |
2195 | S>N | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3051436 rs776545207 RCV002483783 RCV000631719 RCV003302990 |
2196 | G>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001057915 rs1564011730 RCV001759810 |
2209 | G>E | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1564011730 RCV001939942 |
2209 | G>V | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000705157 rs567825537 RCV002485761 RCV002360823 |
2211 | A>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000619778 RCV001147452 rs61734478 RCV000171788 RCV000470032 CA199881 |
2212 | G>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3051448 RCV002367991 RCV001347434 RCV000587602 rs143469039 |
2214 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3051453 RCV002367591 rs185384934 RCV000475432 |
2221 | G>E | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001148374 rs2095680592 |
2225 | I>M | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001880591 rs1345711282 |
2226 | S>R | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2154023155 RCV002015871 |
2237 | A>P | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2095683457 RCV001346332 |
2240 | P>R | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003167403 rs752841046 RCV001962847 |
2240 | P>T | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA337994 RCV000198549 rs376408404 |
2242 | T>M | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003284217 RCV001338800 TCGA novel rs2095685965 |
2249 | F>L | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000695574 rs747833774 |
2257 | Q>K | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000805462 rs768786898 |
2266 | K>R | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001959251 RCV002507719 rs140258681 COSM3007108 RCV002361316 |
2274 | R>C | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000801794 RCV001148376 rs757584252 RCV002360953 |
2281 | T>M | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000688226 RCV000852971 RCV000171743 RCV002362877 CA236941 rs150684838 |
2285 | I>T | Cardiomyopathy Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000998278 RCV002360706 rs1350377647 RCV002532183 RCV000678945 |
2292 | R>Q | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000699005 RCV002360786 rs1276641904 |
2295 | T>A | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs537233629 RCV001988647 RCV002266081 |
2299 | D>H | Long QT syndrome ANK2-associated Complex Neurodevelopmental Disorder [ClinVar] | Yes |
ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs537233629 RCV001903820 |
2299 | D>N | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001313673 rs769627306 |
2299 | D>V | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000698597 rs758842014 |
2324 | Q>E | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP |
|
rs1298469624 CA357928930 RCV000619857 RCV000806581 RCV000779698 |
2325 | D>H | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002476879 RCV002368597 RCV001574596 RCV001882685 rs777618921 |
2326 | D>G | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001920567 rs2154023748 |
2330 | S>G | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1060501159 RCV000456179 CA16611492 |
2330 | S>N | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002050088 rs2154023756 |
2332 | S>R | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001724719 rs2095706081 |
2334 | A>T | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000621003 RCV001148378 CA199884 RCV000171789 RCV000469800 rs61734477 |
2336 | A>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs747137923 RCV001911085 |
2342 | G>A | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002370511 rs1466354397 RCV001943162 |
2348 | A>T | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA3051519 RCV002487254 rs774514148 RCV000587816 RCV002374476 RCV001045075 RCV001252390 |
2352 | G>missing | Intellectual disability Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs752092273 RCV001323329 |
2354 | R>C | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
COSM3767658 RCV000797159 rs139616911 |
2354 | R>H | liver Long QT syndrome [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs745718831 RCV001935831 RCV002361236 RCV002507038 |
2361 | H>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2154024009 RCV002019384 |
2368 | E>G | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001237841 rs2095714626 |
2368 | E>K | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs28377576 RCV001841517 VAR_055505 RCV000603477 CA199887 RCV000171790 RCV001705602 RCV000342708 RCV000252060 |
2369 | V>A | Cardiac arrhythmia Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs758054052 RCV000230793 RCV001785525 RCV000853461 RCV002478848 RCV002365186 CA3051532 |
2369 | V>F | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs28377576 RCV002501122 RCV002363133 RCV000816310 RCV001759587 |
2369 | V>G | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1033059668 RCV001304990 |
2371 | E>K | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001705252 CA3051534 RCV000247727 RCV002253309 rs184514058 RCV000234216 |
2373 | T>A | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002497353 RCV001035207 rs763277342 RCV002372741 |
2374 | A>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000426638 RCV000852972 rs141191319 CA236944 RCV000621823 RCV001082214 RCV000171744 RCV000625125 |
2378 | E>K | Brugada syndrome Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs753351853 RCV003437392 RCV002477514 RCV001049919 RCV000678779 RCV002360704 |
2379 | T>K | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000459302 RCV000621967 rs764841248 CA3051541 RCV000521579 RCV002481403 |
2381 | A>D | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002225731 rs35960628 RCV002360923 RCV002477809 RCV000795810 |
2383 | P>L | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs35960628 RCV002365687 RCV001047744 |
2383 | P>R | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000698978 rs372362152 RCV002360784 RCV000779697 |
2385 | P>S | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001349046 rs781642042 |
2387 | A>S | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001226742 rs1401163801 |
2389 | V>I | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA3051549 RCV002498995 rs769894397 RCV000619005 RCV001860365 |
2390 | K>M | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000618782 RCV001796142 rs151218210 CA3051548 RCV001236673 |
2390 | K>Q | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1564019461 RCV000706486 |
2394 | G>V | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001965205 rs774869878 |
2395 | T>N | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000786103 RCV001264520 RCV002377012 RCV000537225 CA3051552 RCV001256865 rs201693280 |
2395 | T>P | Conduction disorder of the heart Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001893731 rs1430842551 |
2406 | P>S | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1430842551 RCV000545075 CA357929867 |
2406 | P>T | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001369286 rs776036456 |
2407 | Q>H | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3051559 RCV001149935 rs749832637 RCV003159611 RCV000498784 |
2415 | S>N | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1309568447 RCV000631683 RCV001756042 CA357929928 |
2416 | R>G | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA353922 rs766001488 RCV000208158 RCV003430769 RCV001853294 |
2416 | R>Q | Arrhythmogenic right ventricular cardiomyopathy Variant assessed as Somatic; MODERATE impact. Long QT syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002376905 RCV002524032 CA3051561 rs372545180 RCV000493998 |
2417 | D>H | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA236220 rs752704424 RCV000171379 RCV001852068 |
2419 | E>K | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001548602 RCV002386447 rs140341680 RCV002476852 RCV002032577 |
2422 | S>N | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000620093 RCV000474448 CA3051567 RCV001149937 RCV001721514 rs3733616 |
2423 | A>T | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs772544901 RCV002379482 RCV001036337 RCV002290563 |
2428 | S>L | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2095735927 RCV001309454 |
2435 | D>N | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000701460 RCV003344016 RCV002485726 rs761246790 |
2436 | S>F | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs766060431 RCV000791978 |
2445 | D>G | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2095739184 RCV001149938 |
2449 | H>R | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM4403865 RCV001898732 RCV002482796 rs2095742714 |
2463 | S>F | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
CA3051582 rs562115547 RCV001196023 RCV000443537 RCV001203990 RCV002379398 |
2466 | R>C | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001088430 RCV000171745 CA236947 rs142078935 RCV001149939 RCV000157111 RCV000621618 |
2466 | R>H | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375139170 RCV001056431 RCV002379569 RCV001811634 RCV002482013 |
2471 | S>N | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000171602 RCV000602182 RCV002381549 rs201619005 RCV002516559 CA236561 |
2479 | K>R | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000208277 RCV000631622 CA070420 RCV002381714 rs776972443 |
2486 | H>Q | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000706781 rs200377748 COSM4392555 RCV003224381 RCV002388347 |
2500 | T>M | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs780131495 RCV000459987 CA3051603 RCV000786098 |
2506 | R>Q | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs781486011 RCV001998341 |
2508 | R>Q | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002395296 rs1293101023 CA357930641 RCV002490961 RCV000551231 |
2510 | L>F | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001751629 rs557294831 RCV001324556 |
2510 | L>R | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002544186 RCV001753244 rs2154024936 |
2511 | R>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002390409 RCV000171603 RCV002515243 rs142684331 CA236564 |
2511 | R>Q | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs771826064 RCV001775966 RCV000696096 RCV002388264 |
2516 | S>G | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000263259 rs771826064 CA10616947 |
2516 | S>R | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs926379811 RCV000618049 RCV002491325 CA103815270 |
2518 | E>G | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs768362982 RCV001303515 |
2520 | D>V | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP |
|
rs762909298 RCV000208500 CA070617 COSM1050240 RCV002515538 RCV002515539 |
2526 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium Long QT syndrome Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV003298406 RCV000299833 rs886059015 CA10619944 |
2527 | L>F | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001236211 rs2095761353 |
2535 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs766400799 RCV001364037 |
2560 | P>R | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001048700 rs1198252206 |
2572 | D>N | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV003166480 RCV001328621 RCV001238150 rs768485016 |
2577 | G>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002404742 RCV000631669 CA3051647 rs369041815 RCV002499041 |
2581 | R>K | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001370019 RCV002404880 rs544735923 |
2581 | R>S | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
CA357932190 RCV000535159 rs1554561571 |
2603 | Q>H | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2095781039 RCV002015885 |
2608 | K>R | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs767768290 RCV001360984 |
2610 | D>H | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767768290 RCV001338218 |
2610 | D>N | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001989754 RCV002407168 rs767768290 |
2610 | D>Y | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs35338364 RCV000230926 RCV002253310 RCV000441698 CA3051657 RCV000617957 RCV000852973 |
2611 | Y>H | Cardiomyopathy Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000807675 RCV002413410 CA3051664 RCV002481711 RCV000520940 rs116253689 |
2623 | S>C | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002497751 RCV001220724 rs772341643 |
2624 | S>missing | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002282204 RCV002413451 CA3051665 RCV000551455 rs754511955 |
2626 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002419018 rs529384341 RCV001344642 |
2639 | H>D | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201645638 RCV002422701 RCV000795283 |
2644 | E>D | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs563254150 RCV001696938 RCV001145605 RCV002420359 RCV000527619 CA3051683 |
2648 | G>D | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs199828363 RCV000844946 RCV000171604 CA236567 COSM447260 RCV002415729 |
2648 | G>R | Cardiac arrhythmia, ankyrin-B-related breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002420262 CA3051685 RCV000585778 RCV002298625 rs777477439 |
2651 | V>L | Oligosynaptic infertility [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001958213 rs2154025865 |
2654 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000998281 RCV000539884 CA3051688 rs373153154 COSM1050243 RCV002420360 |
2655 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002407315 rs144318707 RCV002023985 |
2657 | S>G | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002479613 RCV001969181 rs146085234 |
2657 | S>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs140042254 RCV000552516 CA3051692 |
2660 | V>L | Long QT syndrome [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001335722 RCV001776201 rs1564029811 RCV002418989 |
2662 | S>F | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002481946 rs773643165 RCV001049139 |
2669 | E>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002266680 rs1235099082 |
2672 | Q>H | ANK2-associated Complex Neurodevelopmental Disorder [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002422939 RCV002266046 rs752323136 RCV001900460 |
2676 | G>D | Long QT syndrome ANK2-associated Complex Neurodevelopmental Disorder [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001908598 rs753552817 |
2680 | G>D | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001853634 CA357932913 RCV000522406 RCV002413409 rs1489919946 |
2681 | L>V | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs56095304 RCV002527094 CA3051704 RCV000492796 RCV002413357 |
2686 | V>A | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002544217 RCV001776740 RCV002506814 rs56095304 |
2686 | V>E | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002481402 rs142107156 RCV001584144 CA16611593 RCV000463507 COSM1050247 |
2688 | R>Q | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related endometrium Long QT syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001145630 rs145676284 |
2691 | P>L | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1455581919 RCV001357454 RCV002548521 |
2693 | S>F | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000631782 CA3051708 RCV002420685 rs371879286 |
2696 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs768800173 RCV000820645 |
2698 | S>R | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
CA3051711 RCV002496753 rs148904454 RCV002418365 RCV000469441 |
2699 | M>I | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1275616940 RCV001071672 |
2700 | D>N | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP gnomAD |
|
rs748404965 RCV001298923 |
2702 | N>I | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001145631 rs748404965 RCV002557116 RCV003163323 |
2702 | N>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002415854 rs142652341 RCV002478709 CA339295 RCV000428957 RCV000200403 |
2706 | E>Q | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000190221 rs796052198 CA204259 |
2708 | V>A | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs774978146 RCV001220793 RCV001145632 |
2713 | V>F | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001542444 RCV002506071 rs753223319 RCV001370715 RCV002418322 CA3051720 RCV000432217 |
2714 | V>I | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001145633 CA336737 RCV002415855 RCV000196821 rs147619875 RCV000486245 |
2715 | S>F | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs193922637 RCV000691559 RCV001841518 RCV001775543 CA213530 RCV002415429 |
2722 | M>I | Cardiac arrhythmia Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001583399 RCV002424998 rs781344591 RCV003224573 |
2726 | T>A | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs756424757 CA3051728 RCV002431540 COSM3736332 RCV001591195 RCV000528936 RCV002476102 |
2728 | E>K | Cardiac arrhythmia, ankyrin-B-related skin Long QT syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1389133986 RCV001901758 RCV002425217 |
2739 | S>C | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000541542 rs376628082 RCV000619771 RCV001584245 CA3051735 |
2747 | R>C | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3051736 RCV000621809 RCV001720017 RCV001145634 RCV000863035 RCV000852974 rs142137451 |
2747 | R>H | Cardiomyopathy Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001321205 rs558793790 |
2752 | T>A | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs751253688 RCV001208043 |
2752 | T>S | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs878854261 CA10582210 RCV000231599 |
2754 | A>V | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002430017 RCV001238243 rs2095817122 |
2755 | E>K | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs534934297 RCV001194187 CA236226 RCV002426815 RCV001087082 RCV000171381 |
2775 | H>R | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3051753 RCV002413452 RCV000530030 rs769322588 |
2777 | C>F | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001085869 rs145895389 CA236950 RCV000438767 RCV000171746 RCV000250647 RCV000625126 |
2785 | S>L | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA357933898 RCV000546342 rs1195125634 |
2788 | P>S | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2095826054 RCV001371938 |
2789 | V>I | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs957787977 RCV001233361 |
2792 | G>D | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001364775 rs774268252 |
2793 | L>I | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001325101 rs1019663457 |
2793 | L>P | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002433742 CA236570 RCV001087258 rs528909081 RCV001148488 RCV000171605 |
2794 | Q>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000619782 rs182956726 RCV000631659 CA3051758 RCV001591384 |
2796 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001782856 rs374145576 CA3051762 RCV001550995 RCV000273717 RCV001094890 |
2799 | D>N | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3051766 rs780423161 RCV002448937 RCV000631578 |
2802 | D>H | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000331132 CA3051768 RCV001248112 RCV002411241 rs769091762 RCV003226286 RCV002227472 |
2806 | V>A | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome ANK2-related Autism [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003346441 RCV001302056 rs545512501 |
2808 | Y>C | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001932316 rs2095832685 |
2810 | E>D | Long QT syndrome [ClinVar] | Yes |
Ensembl ClinVar dbSNP |
|
rs199538455 CA236573 RCV001206581 RCV000171606 RCV002444688 |
2816 | G>D | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000422931 RCV000554370 rs780668435 RCV002446737 CA3051777 |
2821 | D>E | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000251905 CA199890 RCV001094891 RCV000171791 RCV000383296 RCV001706112 rs3733617 |
2835 | P>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2095839218 RCV002000952 |
2840 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2095839037 COSM1495671 RCV002008875 |
2840 | P>T | kidney Variant assessed as Somatic; MODERATE impact. Long QT syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP |
|
RCV000458178 rs1060501155 CA16611510 |
2848 | S>F | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3051787 RCV000612463 RCV002411439 rs368569512 RCV000461075 |
2851 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001887009 RCV002449536 rs137856530 |
2851 | P>S | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2095842493 RCV001070333 |
2854 | L>F | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
TCGA novel rs2095842682 RCV002038438 |
2855 | V>A | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002030828 rs1199276950 |
2871 | I>V | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs2095846712 RCV001213636 |
2872 | Q>K | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA16611596 rs369274672 RCV000460330 |
2876 | V>I | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001063653 rs763136492 |
2877 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001368752 rs2154027405 |
2881 | E>K | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs56222626 RCV002374910 RCV001267469 RCV001052179 |
2882 | T>I | Long QT syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003333753 RCV001868116 rs778307564 RCV000621705 CA3051804 |
2883 | F>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002446794 CA16611410 RCV000477171 rs1060501164 |
2884 | E>G | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000819996 rs1050108506 RCV002442746 RCV002487828 |
2887 | P>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000808923 RCV002370166 RCV002478878 rs372710129 |
2890 | C>Y | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1589012300 RCV000808324 |
2894 | D>V | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001304746 rs769751525 |
2900 | Q>E | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001369284 rs533349333 RCV002377547 |
2906 | M>V | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000631594 COSM336751 CA3051823 rs748400535 |
2910 | V>L | lung Long QT syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748400535 RCV002377494 RCV001351450 COSM201688 |
2910 | V>M | Variant assessed as Somatic; MODERATE impact. large_intestine Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1564041926 RCV000691774 |
2913 | L>P | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001547855 rs772241625 RCV002568294 |
2914 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs781185140 CA3051828 RCV000343849 RCV001094893 RCV002374590 |
2920 | Y>C | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001868802 rs2154027682 RCV001776356 |
2921 | D>E | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA3051829 RCV002377358 RCV001148490 RCV000631775 RCV003437339 rs551454026 |
2923 | Q>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001037128 rs2095861720 |
2926 | S>I | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002369898 rs745764335 RCV000697298 |
2938 | S>P | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1554565808 CA357935615 RCV000530275 |
2942 | S>N | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000423348 RCV000764527 RCV000463576 rs138438183 RCV000620461 CA3051837 |
2948 | A>G | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1215585753 RCV001150057 RCV000658344 |
2950 | H>Y | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA3051840 RCV002476062 RCV000797493 rs754378659 RCV000520429 |
2956 | S>C | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001044622 rs1188089924 |
2959 | V>M | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA3051842 RCV000764528 rs62313245 RCV000487226 RCV000285338 RCV000242675 |
2964 | I>M | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs752493662 RCV001070818 RCV002374997 |
2971 | V>I | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000817792 rs142302291 |
2973 | V>A | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002374762 CA3051849 RCV000498983 RCV000471954 rs142302291 RCV002481404 |
2973 | V>G | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002038911 rs2154027979 |
2974 | A>S | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002483724 RCV001051685 RCV001252391 CA3051850 RCV000618854 RCV001571397 rs371343942 |
2976 | S>C | Intellectual disability Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA103817084 RCV000560257 rs972912523 |
2978 | S>R | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2095873512 RCV001150059 RCV001337602 |
2981 | V>A | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs745914652 RCV000460403 CA3051853 |
2987 | N>D | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs772344557 RCV001961183 |
2989 | E>Q | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001587275 RCV001244902 RCV002447210 rs112252825 |
2993 | I>M | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs879249653 RCV001202206 |
2995 | M>V | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1213001504 RCV001306127 RCV002375374 |
2997 | S>P | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs930979563 RCV001878402 |
3003 | L>F | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001081980 RCV001150060 RCV000620867 rs149963885 COSM1309639 RCV000171747 RCV000852975 CA236953 RCV000440096 |
3016 | E>K | Cardiomyopathy Cardiac arrhythmia, ankyrin-B-related urinary_tract Long QT syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002506110 rs370499072 CA3051864 RCV000472799 RCV002374761 |
3019 | M>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000617952 RCV000586248 RCV001094927 RCV000171792 rs74348333 CA199893 RCV000226675 |
3021 | A>T | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001877768 rs2154028339 |
3031 | S>G | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA3051872 RCV000461575 rs768741443 |
3037 | K>E | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002372334 RCV000852555 rs140539843 RCV001784450 RCV000819773 |
3039 | D>G | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1345598685 RCV001976790 |
3045 | W>G | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000631587 RCV002377356 rs1554567603 CA357936670 |
3046 | S>C | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001216854 RCV002375190 COSM1539181 rs748521267 COSM6166230 |
3046 | S>N | lung Variant assessed as Somatic; MODERATE impact. Long QT syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
cosmic curated NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001226387 rs1273694931 |
3047 | E>D | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002375360 RCV001300238 rs1717042447 |
3049 | R>Q | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002375154 RCV001209866 rs139007578 |
3054 | A>G | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003284057 RCV001213241 rs139007578 |
3054 | A>V | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002487025 RCV002224595 rs1158664416 |
3055 | F>V | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA3051879 rs188282049 RCV002377013 RCV000531915 RCV003226939 |
3058 | R>C | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001143936 RCV000157112 rs730880048 CA346177 RCV001850177 |
3058 | R>H | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome Sudden cardiac death [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002377521 RCV002488120 RCV001587376 rs761458371 RCV001364000 |
3059 | V>L | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002275184 rs1029760186 RCV001040087 |
3062 | E>G | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001320493 rs750360259 |
3070 | M>I | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001349625 rs2095893623 RCV003169723 |
3070 | M>V | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001346948 rs962522673 RCV002377472 RCV002493787 |
3081 | D>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002372385 RCV000845350 rs770289485 |
3082 | T>I | Conduction disorder of the heart [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2095900155 RCV001980792 |
3095 | T>missing | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000473728 RCV000620219 CA3051899 RCV000426293 rs144158934 RCV001143937 |
3096 | S>G | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001338609 rs2095905515 |
3124 | Y>S | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000233501 RCV001143938 rs146504109 CA3051906 |
3128 | S>N | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001143939 rs2095907660 |
3129 | F>C | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs140683986 RCV002375377 RCV001306444 |
3135 | G>V | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs779273162 RCV001230040 |
3137 | E>Q | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001539072 RCV002374760 rs374350634 RCV002480371 CA3051914 RCV000466984 |
3142 | T>P | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000223888 RCV002494607 rs776074680 RCV000250136 CA3051917 |
3143 | L>V | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001094764 RCV000224811 RCV000852976 CA199896 RCV000226208 RCV000619796 rs61741040 RCV000171793 |
3152 | T>A | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001327256 rs1054381464 |
3154 | A>V | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002370480 rs760298528 RCV001896798 |
3158 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001143940 rs2095917800 |
3158 | P>S | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001227047 rs2095919119 |
3160 | E>* | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001340054 rs2095919636 |
3163 | A>T | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001360325 rs868306842 |
3167 | A>T | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA357937830 RCV000537725 rs1197969705 |
3170 | E>D | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA357937838 RCV000631612 rs1554569481 RCV000786102 |
3171 | S>A | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001038366 rs560480810 |
3174 | T>A | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000230181 RCV000767141 CA3051931 RCV000625127 rs138928206 RCV000223719 RCV000246497 |
3176 | D>Y | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002384421 rs759441164 RCV001322310 |
3186 | V>M | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764211092 RCV000698197 |
3190 | V>A | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001812485 rs144719173 RCV001871678 COSM1050253 |
3196 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000616763 RCV000233047 RCV000243977 RCV000852977 RCV000588027 RCV002503898 rs750774547 CA3051948 |
3200 | L>F | Cardiac arrhythmia, ankyrin-B-related Hypertrophic cardiomyopathy Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2154029356 RCV001935480 |
3200 | L>H | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001327114 rs371919804 RCV002499646 |
3219 | S>I | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000852556 rs953435984 |
3219 | S>R | Cardiomyopathy [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV002227516 RCV001307737 rs2095939172 |
3222 | T>N | Long QT syndrome ANK2-related Autism [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002374592 RCV001094813 RCV000370012 CA3051962 rs140604600 |
3227 | T>P | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs141013157 RCV001145741 RCV000658341 RCV000702095 RCV002369780 COSM1426463 |
3228 | V>M | Variant assessed as Somatic; MODERATE impact. large_intestine Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000468734 RCV000764529 rs200594514 CA3051967 COSM1426464 |
3230 | T>A | Variant assessed as Somatic; MODERATE impact. large_intestine Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001233301 rs752093696 RCV002375241 |
3230 | T>M | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001304148 rs748801701 CA3051971 RCV000242982 |
3235 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002375119 RCV001205686 rs202098889 RCV001192820 |
3235 | P>S | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001367755 rs2154029621 |
3242 | I>L | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2095947595 RCV001301543 |
3243 | S>T | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001774955 RCV001868690 rs371808294 |
3246 | D>N | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002036924 rs2154029715 |
3254 | V>I | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2154029721 RCV001884238 |
3255 | Q>R | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2095954523 RCV001217795 |
3262 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA16611523 RCV000466588 rs1060501156 |
3267 | S>L | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000247736 rs149043752 CA3051987 RCV000804212 RCV000998282 |
3275 | D>E | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001700722 RCV001220674 RCV001252387 rs1334864660 COSM1671224 |
3275 | D>N | Intellectual disability Long QT syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs753345794 RCV002224114 RCV002370512 RCV001943305 |
3277 | S>P | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1374406921 RCV001950482 |
3278 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
CA3051990 RCV000492803 rs372534074 RCV002496895 RCV001317182 RCV002383945 |
3281 | Q>E | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1306812632 RCV001766768 RCV000852557 RCV002381906 RCV001338530 |
3281 | Q>R | Long QT syndrome Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001540397 CA353919 rs144603824 RCV000208148 RCV000617966 RCV001145743 |
3285 | I>L | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000250415 RCV000206487 CA199899 rs36210417 RCV000852978 RCV000625128 RCV000171794 RCV000589694 |
3285 | I>T | Atrial fibrillation Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs768536932 RCV001372507 RCV002384538 |
3286 | E>K | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs781204799 CA3051994 RCV000622087 RCV001860366 |
3287 | I>F | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA351951 rs869025361 RCV000208336 |
3291 | P>S | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001306866 rs1439525696 |
3292 | M>T | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000619323 RCV000551708 rs763211298 CA3051998 RCV000786099 |
3294 | N>H | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001349791 rs2095967063 |
3295 | V>L | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001890180 rs774765910 |
3296 | P>R | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000458832 rs771113677 CA3051999 |
3296 | P>S | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001706113 rs34270799 RCV000171795 RCV000243731 RCV000625129 RCV000311991 CA199902 |
3300 | S>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2095969252 RCV001256117 |
3302 | S>C | Autism [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs749246876 RCV001986688 |
3305 | P>A | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000171607 RCV002515244 RCV002381550 CA236576 rs200922244 RCV002505236 |
3306 | V>I | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001079182 RCV000839048 RCV000617887 rs145145511 RCV002506500 CA3052003 RCV003323638 |
3308 | T>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000705478 rs1430897546 |
3309 | M>T | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2154030076 RCV001875107 |
3310 | P>S | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002023280 rs754809421 |
3319 | A>T | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002482734 rs148357205 RCV002386675 RCV001884630 |
3323 | S>G | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3052014 RCV002481281 RCV000414342 RCV001850998 rs150437645 RCV002402104 |
3339 | A>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1210742834 RCV001294652 |
3340 | D>E | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs772518443 RCV001148597 |
3340 | D>G | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002224119 RCV001955098 rs376912244 |
3345 | K>M | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001930307 rs1564061618 RCV002407058 |
3354 | L>V | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001373052 rs1268005912 |
3357 | V>A | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1214575789 RCV001869838 RCV001825315 |
3360 | Q>H | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000533993 CA3052023 rs751293026 |
3362 | S>L | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002506188 rs923915013 RCV000489902 CA103817758 |
3362 | S>T | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs560594488 RCV001965000 |
3366 | T>N | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV003343716 rs878854255 CA10582211 RCV000232511 |
3367 | S>T | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs767395287 RCV002024957 |
3368 | V>I | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000762106 rs371358639 RCV000619754 CA3052026 RCV001247601 RCV001148598 |
3373 | A>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002032676 RCV001723397 RCV002503175 rs1171741008 |
3376 | G>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002533181 RCV002483781 RCV000631671 CA3052029 rs374257100 RCV000786097 |
3383 | A>T | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001934603 rs1564063003 |
3386 | N>S | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001911809 rs777285562 |
3394 | A>S | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs942441867 RCV003166862 RCV001321351 |
3400 | K>N | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001370607 rs1442066284 |
3402 | K>N | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs762372282 RCV001214247 |
3402 | K>T | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs773715451 RCV002430009 RCV001236165 |
3408 | R>G | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001786415 rs759274800 RCV002499276 COSM220244 RCV000706424 |
3408 | R>Q | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome haematopoietic_and_lymphoid_tissue [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1192955452 RCV002493792 RCV001348534 |
3411 | T>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs864321653 RCV000203514 CA339711 |
3415 | T>A | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200605861 RCV001094899 RCV002379237 CA3052046 TCGA novel RCV000329492 |
3418 | R>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD NCI-TCGA |
|
RCV002490147 rs758710640 COSM4661591 RCV001911167 |
3422 | E>K | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001425107 RCV002383951 rs149574241 CA3052053 RCV001696897 RCV002489214 |
3430 | E>A | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554571927 RCV000631684 CA357940092 |
3430 | E>Q | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002379896 rs147245875 RCV001235127 |
3432 | A>D | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP dbSNP gnomAD |
|
RCV002386177 RCV000688421 rs1564065329 |
3432 | A>S | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001593080 RCV001194186 RCV000865871 COSM585674 rs772954896 |
3441 | R>Q | lung Variant assessed as Somatic; MODERATE impact. Long QT syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002388429 RCV000794283 rs1389060330 |
3444 | V>A | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs377186833 RCV001248462 |
3444 | V>I | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000823579 rs1589057836 |
3446 | S>G | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001368763 rs1385620748 RCV002395835 |
3448 | S>C | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001208878 rs2096014347 |
3450 | T>A | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001912778 RCV002554284 rs1219397825 |
3451 | S>C | Long QT syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000551022 rs1554572092 CA357940237 |
3453 | C>S | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001265984 rs2096016231 |
3454 | R>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000839301 CA3052060 RCV002393097 COSM732902 RCV000690898 RCV000519386 rs55726422 RCV001704661 CA3052059 RCV001081178 RCV002395248 RCV002489022 |
3454 | R>S | Cardiac arrhythmia, ankyrin-B-related lung Long QT syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs766996807 RCV001899740 |
3455 | G>R | Long QT syndrome [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs533201814 RCV001066404 |
3455 | G>V | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1477856046 RCV001999225 |
3456 | G>R | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001909478 rs900955620 RCV002503568 |
3457 | T>M | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001328620 RCV002395731 rs761631834 |
3459 | P>A | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002504586 rs761631834 RCV001358920 RCV002395790 |
3459 | P>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000806534 rs1589060809 |
3466 | H>P | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001868680 RCV001766060 RCV002503240 rs751755180 |
3475 | I>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002224186 rs2154031171 COSM3428070 RCV002496152 |
3477 | F>L | Variant assessed as Somatic; MODERATE impact. large_intestine Cardiac arrhythmia, ankyrin-B-related [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
RCV001346208 rs1323284534 RCV001256938 |
3483 | D>N | Long QT syndrome 1 Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000823619 RCV002390708 rs754354916 RCV001545545 RCV002487856 |
3485 | A>T | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2154031241 RCV001891720 |
3490 | D>E | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2154031263 RCV002003149 |
3494 | Q>missing | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000691516 rs1564067737 |
3495 | S>missing | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3052077 RCV002477381 RCV003227812 RCV002404740 rs370472530 RCV000631625 |
3501 | I>M | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002562239 RCV001950595 rs760127428 |
3507 | S>N | Long QT syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001930823 rs1260089933 |
3508 | S>N | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001222989 rs776473130 |
3509 | S>G | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1303634187 RCV002388583 RCV001547660 RCV001882622 |
3510 | A>S | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001320574 rs765022083 |
3516 | I>T | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002550717 rs766421377 RCV002505521 RCV002236005 |
3521 | P>L | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3052089 rs781552524 RCV002481405 RCV000464069 RCV003401462 RCV002411437 |
3525 | E>K | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome ANK2-related condition [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2096040389 RCV001252392 |
3531 | D>Y | Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001982423 rs2154031469 |
3532 | I>N | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
TCGA novel rs2154031500 RCV002031368 |
3538 | I>V | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV001570471 RCV000538991 RCV002506295 RCV002413450 CA3052094 rs753102215 |
3543 | I>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003396399 RCV000802126 RCV002251519 rs1056477885 |
3549 | R>C | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000813554 RCV002406840 rs768351547 |
3549 | R>H | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002557231 rs758868149 RCV001150174 RCV001858982 |
3554 | N>Y | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1280167255 RCV001038158 |
3558 | H>Y | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002413850 rs779374859 RCV001576773 RCV001360557 |
3562 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1589099894 RCV000794409 |
3563 | Q>H | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000170657 CA300722 RCV000620201 rs142612379 RCV000631720 RCV001150175 |
3568 | R>Q | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA300923 RCV002478529 RCV000620429 RCV000551336 RCV001704237 rs72556376 COSM278816 |
3568 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs180843436 RCV000058340 RCV002514292 RCV002483106 RCV000818116 CA329720 RCV000143869 RCV000375362 |
3570 | E>K | Catecholaminergic polymorphic ventricular tachycardia 1 Congenital long QT syndrome Cardiac arrhythmia, ankyrin-B-related Long QT syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2154037371 RCV001371235 |
3582 | F>V | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1589100801 RCV000817335 |
3583 | S>R | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002493803 rs955760988 RCV001350659 |
3585 | T>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001303289 rs777495627 |
3592 | D>Y | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2096343477 RCV001252388 |
3599 | H>P | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs374991526 RCV000243213 RCV002487152 RCV000631583 CA3052138 RCV003326393 |
3602 | R>Q | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001369295 CA16604680 RCV000441824 rs1057521529 |
3603 | I>V | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000170706 CA300928 RCV002426807 RCV002517635 rs367788127 |
3607 | N>S | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV001322953 RCV001751624 rs369777545 |
3611 | D>N | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199473346 RCV000058341 CA300933 RCV000794010 RCV000779424 |
3620 | W>R | Congenital long QT syndrome Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000618704 RCV000058342 RCV000170658 RCV001150176 rs45570339 RCV001705712 RCV000171796 CA199905 |
3621 | L>V | Cardiac arrhythmia, ankyrin-B-related Congenital long QT syndrome Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001985527 rs2154047653 |
3624 | D>N | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001252393 CA074011 RCV000208430 RCV001078702 RCV000412995 RCV000764530 RCV000619380 rs148405740 |
3627 | H>Q | Intellectual disability Brugada syndrome Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000756991 RCV001855886 rs765610365 |
3628 | A>S | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
COSM1426469 RCV001150177 rs2096350969 |
3630 | D>N | large_intestine Cardiac arrhythmia, ankyrin-B-related [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar Ensembl dbSNP |
|
RCV000620213 RCV001841765 RCV001256867 RCV001085479 rs66785829 RCV000852980 RCV000589585 RCV001150178 CA145025 |
3634 | V>D | Cardiac arrhythmia Conduction disorder of the heart Cardiac arrhythmia, ankyrin-B-related Long QT syndrome Familial dilated cardiomyopathy and peripheral neuropathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000467680 CA329725 COSM1050255 rs143228029 RCV000058343 |
3634 | V>I | Variant assessed as Somatic; MODERATE impact. Congenital long QT syndrome endometrium Long QT syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001267442 RCV002245910 rs757033443 |
3642 | R>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1057522614 RCV000418166 CA16605040 RCV001861573 |
3649 | M>I | Long QT syndrome [ClinVar] | Yes |
TOPMed ClinGen ClinVar dbSNP |
|
rs145856327 CA3052169 RCV002525972 RCV000480858 RCV003338611 |
3649 | M>V | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000170708 CA300938 rs746987182 RCV002478530 RCV001295828 RCV002444684 |
3650 | E>Q | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3428071 RCV002492954 CA3052172 COSM3428072 rs370699621 RCV000631655 |
3659 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs556640912 RCV000552995 RCV001550111 COSM1050256 CA3052174 RCV000621641 |
3659 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001290572 CA3052173 rs556640912 RCV000443671 RCV002450961 RCV001078512 RCV003418111 |
3659 | R>L | Long QT syndrome ANK2-related condition [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003169642 rs1476966675 RCV001342768 |
3667 | I>V | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs45608232 RCV002430059 RCV001256868 |
3670 | T>I | Long QT syndrome 1 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000620042 rs45608232 RCV002497064 RCV000533401 CA3052178 RCV001420962 |
3670 | T>N | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002520199 rs886059017 CA10616954 RCV002429312 RCV000283731 RCV001531410 |
3676 | S>T | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001961530 rs761223564 RCV002425345 |
3680 | S>L | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV003225158 RCV001209166 rs2096584172 |
3687 | C>R | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002482146 RCV001071753 rs143803967 RCV002429745 |
3687 | C>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001325525 rs2096584434 |
3688 | T>S | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000058345 rs199473347 CA329730 RCV003407443 |
3696 | E>K | Congenital long QT syndrome ANK2-related condition [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001327485 RCV001252389 rs1438803009 |
3700 | S>A | Intellectual disability Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000170709 RCV000185494 RCV001144037 rs199549660 RCV002426808 RCV001082474 CA235660 RCV000852558 |
3707 | D>N | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000170710 CA300943 RCV000553190 COSM4998796 RCV000764531 rs146476345 COSM265476 RCV002433732 RCV000766409 |
3712 | V>I | Variant assessed as Somatic; MODERATE impact. large_intestine Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000232607 RCV002433962 CA3052237 RCV002478847 rs747566497 |
3717 | I>N | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA357942133 RCV002438653 rs762384095 RCV000631658 |
3726 | D>V | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2154060505 RCV002023636 |
3729 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000157113 CA346180 rs730880049 |
3733 | G>missing | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002049775 rs767353282 |
3734 | D>Y | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000227575 RCV001841249 VAR_022935 RCV000019675 RCV001580447 RCV000242138 RCV000852981 rs35530544 RCV000058346 CA199910 |
3740 | L>I | Cardiac arrhythmia Cardiomyopathy Cardiac arrhythmia, ankyrin-B-related Long QT syndrome LQT4; loss of function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002438868 rs753748906 RCV001371643 COSM3599293 RCV002476697 COSM3599294 |
3742 | P>L | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002441869 RCV003102914 rs786205738 |
3743 | Q>H | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000618056 VAR_022936 RCV001841248 RCV000723633 CA145030 rs121912705 RCV000019674 RCV000223796 RCV000204635 |
3744 | T>N | Cardiac arrhythmia Cardiac arrhythmia, ankyrin-B-related Long QT syndrome LQT4; loss of function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001224090 rs372212045 CA300948 RCV002433733 RCV000170711 RCV002485060 |
3744 | T>P | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs773893598 RCV000852982 RCV000282505 RCV001372879 CA3052256 RCV003168526 |
3767 | E>V | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome Ventricular tachycardia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001350827 RCV002486447 rs771710685 RCV002322301 |
3768 | Y>H | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002325210 rs1261133929 CA357942437 RCV000631576 |
3771 | E>D | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001058632 rs771510196 RCV002320310 |
3774 | V>M | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3052277 RCV003168769 RCV000471061 RCV001561024 RCV002481406 rs746620876 |
3776 | T>A | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001144040 rs150808807 RCV000786100 CA300953 RCV000243482 RCV003422063 RCV000529321 RCV001804900 |
3785 | Q>R | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome ANK2-related condition [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001368578 RCV000426503 CA16605046 rs1057521510 |
3794 | P>S | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001362582 RCV002322328 rs773222006 |
3800 | E>A | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16604572 RCV002480308 rs1057522136 RCV000432369 RCV002323622 RCV001042464 |
3800 | E>K | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1554589909 RCV000617905 CA357942717 RCV001855265 |
3812 | L>R | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002032200 rs1209317369 |
3816 | T>A | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000170714 RCV001852038 rs754056434 CA300958 |
3818 | S>N | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001306815 rs1203748896 |
3819 | E>Q | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002450962 RCV002480282 RCV000860599 rs138085317 RCV003155178 CA3052292 RCV001712179 |
3820 | R>Q | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001711456 rs79577190 RCV000617496 RCV001145849 CA300729 RCV000466690 RCV000170661 |
3822 | G>A | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs776355038 RCV001318800 |
3823 | S>C | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs747961230 RCV002453575 RCV000170715 RCV000703371 RCV001145850 CA300963 |
3824 | P>A | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM4121487 CA357942803 RCV000546217 COSM4121488 rs1554590231 |
3827 | Q>R | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV003236869 RCV001145851 rs2096659859 |
3829 | P>L | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1406909211 RCV000808466 |
3830 | E>K | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA300734 RCV000620354 rs144046572 RCV000229295 RCV001711457 RCV002498849 |
3831 | E>D | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs762934492 RCV001038368 |
3835 | H>P | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000845540 rs766615247 RCV001347318 |
3837 | E>K | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001854214 RCV000058348 RCV001572006 rs148654834 RCV002504967 CA329735 RCV003343628 |
3839 | S>T | Cardiac arrhythmia, ankyrin-B-related Congenital long QT syndrome Long QT syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002348845 RCV001247696 COSM4584741 RCV002272429 COSM4584740 rs767769233 |
3841 | P>L | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000704658 CA3052301 RCV002485444 COSM420236 RCV002347850 RCV000216018 rs770954138 COSM4661594 |
3842 | R>Q | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related urinary_tract Long QT syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs139797180 RCV000618527 COSM3696397 RCV000233276 COSM238777 RCV001704236 CA300739 |
3842 | R>W | large_intestine Long QT syndrome prostate [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199473643 CA329740 RCV000058349 |
3844 | T>N | Congenital long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA357942932 COSM4636738 RCV000558756 COSM4636737 rs1448123780 |
3847 | V>I | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs143985655 RCV001852040 CA301086 RCV000170742 |
3850 | E>K | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001852041 rs786205739 RCV000170743 CA301091 |
3852 | A>G | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002354416 rs754642933 RCV000170718 RCV002492696 RCV000804516 CA300978 |
3853 | D>N | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1290892227 RCV002352594 RCV001926730 |
3856 | P>H | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002366167 rs151338825 RCV001315265 |
3858 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001348200 rs886039041 |
3863 | D>Y | Long QT syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA235665 rs140606121 RCV000530694 RCV000170744 RCV000618820 |
3865 | D>G | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000170719 rs786205729 RCV000208166 RCV001852039 CA300983 |
3871 | G>R | Catecholaminergic polymorphic ventricular tachycardia 1 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs777035563 RCV001900402 RCV002359330 |
3873 | D>N | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001371860 RCV002322355 rs369756604 |
3878 | P>A | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001344607 rs369756604 |
3878 | P>T | Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001572499 RCV002501051 RCV000795965 rs373688313 RCV002325516 |
3881 | T>A | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1198488694 RCV002481949 RCV001049418 |
3885 | E>D | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001048682 rs776600674 |
3886 | E>missing | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs994135691 RCV001981414 |
3889 | D>H | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001975553 rs1311323688 |
3892 | G>A | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1318639708 RCV001959974 |
3894 | T>S | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001842514 rs72556370 CA199816 |
3895 | V>L | Cardiac arrhythmia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001841766 RCV002326780 RCV000987468 CA145035 RCV001703968 RCV000862015 rs72556370 |
3895 | V>M | Cardiac arrhythmia Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3052348 RCV000351944 rs768664692 RCV003168527 |
3896 | V>L | Cardiac arrhythmia, ankyrin-B-related [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1554597130 CA357943494 RCV000656149 |
3898 | K>E | Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003338476 RCV000227110 rs878854256 CA10582212 |
3899 | V>F | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000631670 RCV000170722 CA300993 COSM69638 RCV002326933 rs770001324 COSM3599297 |
3906 | R>Q | ovary Variant assessed as Somatic; MODERATE impact. large_intestine Long QT syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000620379 RCV001145853 CA127768 RCV000474063 RCV000852983 RCV001082560 VAR_022937 RCV000211890 rs121912706 RCV000019676 RCV000234999 RCV001841250 |
3906 | R>W | Cardiac arrhythmia Cardiomyopathy Long QT syndrome 4 Cardiac arrhythmia, ankyrin-B-related Long QT syndrome LQT4; loss of function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs141124755 RCV001094900 RCV000391335 RCV002328871 CA3052368 RCV001705516 |
3909 | S>P | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1181940613 RCV001997245 RCV002331516 RCV002282666 |
3910 | S>P | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001314304 rs1421582181 |
3912 | G>D | Long QT syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001267091 rs2096809119 |
3912 | G>S | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001934132 rs774756538 |
3919 | M>I | Long QT syndrome [ClinVar] | Yes |
ExAC gnomAD ClinVar dbSNP |
|
rs768327292 RCV002327614 RCV001266729 |
3921 | Q>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000123649 CA145040 RCV000852984 RCV000019677 VAR_022938 rs45454496 RCV001084983 RCV000420423 RCV001841251 RCV000617748 |
3931 | E>K | Cardiac arrhythmia Cardiac arrhythmia, ankyrin-B-related Long QT syndrome Ventricular fibrillation LQT4; loss of function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001868744 RCV001768372 RCV002334686 RCV002509697 rs377555678 RCV002489820 |
3936 | Y>C | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001941127 rs568549084 RCV002334920 |
3938 | K>R | Long QT syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001040867 rs1344245343 |
3942 | R>C | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs542400709 COSM4121498 RCV001312488 COSM4121497 RCV003223718 RCV002476442 |
3942 | R>H | Variant assessed as Somatic; MODERATE impact. Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002042279 rs1180995288 |
3948 | D>G | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000171609 rs746413508 RCV001317974 CA236579 |
3950 | E>K | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001216787 rs1319198451 |
3954 | D>H | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000437988 CA3052444 RCV001705546 RCV001521004 rs201555985 RCV002253409 RCV002338984 |
3955 | N>S | Cardiac arrhythmia, ankyrin-B-related Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs756817921 RCV002035080 |
3957 | E>K | Long QT syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
| rs929854524 | 2 | M>V | No |
TOPMed gnomAD |
|
| rs535919946 | 4 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs1433952417 | 5 | D>G | No | Ensembl | |
| rs748654930 | 5 | D>N | No |
ExAC gnomAD |
|
|
CA357992657 RCV000498439 rs748654930 |
5 | D>Y | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| COSM731919 | 6 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1440598505 | 10 | S>G | No | gnomAD | |
| TCGA novel | 11 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778450160 | 12 | S>G | No |
ExAC gnomAD |
|
|
RCV001768310 rs1428896596 |
12 | S>I | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs771799732 | 13 | G>E | No |
ExAC gnomAD |
|
| rs745356870 | 13 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs983314290 | 14 | E>D | No |
TOPMed gnomAD |
|
| TCGA novel | 15 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1424055453 | 17 | N>D | No |
TOPMed gnomAD |
|
| rs746628566 | 18 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs768352926 | 19 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs369260005 | 19 | S>I | No |
ESP ExAC TOPMed gnomAD |
|
| COSM6166281 | 19 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2154322706 | 20 | S>C | No | Ensembl | |
| rs147439862 | 21 | Q>R | No |
ESP ExAC |
|
| COSM6166280 | 22 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1216511889 | 22 | R>K | No |
TOPMed gnomAD |
|
| rs1580054974 | 23 | R>K | No | Ensembl | |
| rs2066097153 | 24 | K>R | No | TOPMed | |
| COSM1426435 | 25 | R>D | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2066098531 | 26 | P>L | No | TOPMed | |
| rs969646633 | 29 | S>C | No | Ensembl | |
|
COSM6099138 COSM6099137 |
30 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs758379675 | 32 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs1250640997 | 32 | N>S | No | gnomAD | |
| rs1193481066 | 33 | A>T | No | gnomAD | |
| rs1373936514 | 36 | L>F | No | gnomAD | |
| rs2098115966 | 37 | R>H | No | gnomAD | |
|
RCV002454589 rs2098116035 RCV002223351 |
38 | A>V | No |
ClinVar TOPMed dbSNP |
|
| rs2098116234 | 41 | A>E | No | Ensembl | |
| rs1169068254 | 43 | N>S | No | gnomAD | |
| rs1047496087 | 45 | D>G | No |
TOPMed gnomAD |
|
| rs1388701783 | 47 | V>I | No |
TOPMed gnomAD |
|
| rs2098116783 | 48 | V>L | No | Ensembl | |
| rs1583854896 | 49 | E>V | No | Ensembl | |
| rs1257039963 | 50 | Y>N | No | gnomAD | |
| TCGA novel | 51 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748468378 | 51 | L>Q | No |
ExAC gnomAD |
|
|
rs2153225149 RCV001757324 |
52 | K>missing | No |
ClinVar dbSNP |
|
| rs769893243 | 53 | G>E | No |
ExAC TOPMed gnomAD |
|
|
COSM3006939 COSM4337586 |
54 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2098117345 | 54 | G>S | No | TOPMed | |
| TCGA novel | 55 | I>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1554224165 | 55 | I>T | No | Ensembl | |
| rs1215518040 | 57 | I>M | No | gnomAD | |
| rs771378991 | 58 | N>S | No |
ExAC gnomAD |
|
| rs1017008834 | 60 | C>F | No |
TOPMed gnomAD |
|
| TCGA novel | 61 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs2098117934 |
62 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| TCGA novel | 64 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 65 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146964054 COSM585408 |
66 | N>K | lung [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs1238407568 | 66 | N>S | No | TOPMed | |
| rs2098748461 | 67 | A>T | No | Ensembl | |
|
COSM2155017 COSM4475955 |
68 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2098748484 | 68 | L>I | No | TOPMed | |
| rs2098748484 | 68 | L>V | No | TOPMed | |
|
COSM3599225 COSM3599224 |
69 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1584573323 | 70 | L>R | No | Ensembl | |
| TCGA novel | 71 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2098748565 | 72 | A>T | No | TOPMed | |
| rs2153389726 | 73 | K>R | No | 1000Genomes | |
| rs772446369 | 74 | E>D | No |
ExAC gnomAD |
|
|
COSM4535625 COSM4535626 |
74 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs951119980 | 75 | G>A | No | TOPMed | |
| rs2098748676 | 76 | H>Y | No | Ensembl | |
| rs2098748778 | 77 | V>A | No | Ensembl | |
| rs776254819 | 77 | V>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 82 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 85 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs786205731 CA301006 RCV000170725 |
86 | R>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1440318377 | 87 | G>E | No |
TOPMed gnomAD |
|
|
COSM3599227 COSM3599226 |
88 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs766226596 | 89 | S>F | No |
ExAC gnomAD |
|
| rs372103163 | 91 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs767322225 | 91 | D>V | No |
ExAC gnomAD |
|
| rs372103163 | 91 | D>Y | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3916987 rs2098749277 COSM3916988 |
92 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2153404842 | 96 | K>M | No | Ensembl | |
| rs2153404842 | 96 | K>R | No | Ensembl | |
| COSM1050209 | 97 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2153404868 | 97 | G>R | No | Ensembl | |
| rs2153404886 | 97 | G>V | No | Ensembl | |
| rs2153404896 | 98 | N>K | No | Ensembl | |
|
rs2153404920 COSM1050210 COSM3356038 |
99 | T>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2153404905 | 99 | T>P | No | Ensembl | |
| rs2153404905 | 99 | T>S | No | Ensembl | |
| rs2153404920 | 99 | T>S | No | Ensembl | |
| rs1325750471 | 100 | A>P | No | TOPMed | |
| rs1325750471 | 100 | A>S | No | TOPMed | |
| rs1325750471 | 100 | A>T | No | TOPMed | |
| TCGA novel | 100 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1325949260 | 101 | L>F | No | gnomAD | |
| rs1325949260 | 101 | L>V | No | gnomAD | |
| rs2153405009 | 102 | H>D | No | Ensembl | |
| rs2153405028 | 102 | H>L | No | Ensembl | |
|
rs2098792264 COSM345583 |
102 | H>Q | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2153405009 | 102 | H>Y | No | Ensembl | |
| rs2153405062 | 103 | I>T | No | Ensembl | |
|
rs1396062330 RCV001580819 |
103 | I>V | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2153405085 | 104 | A>G | No | Ensembl | |
| rs2153405066 | 104 | A>P | No | Ensembl | |
| rs2153405066 | 104 | A>T | No | Ensembl | |
| rs2153405085 | 104 | A>V | No | Ensembl | |
| rs2098792360 | 105 | S>C | No | gnomAD | |
| rs2098792360 | 105 | S>F | No | gnomAD | |
| TCGA novel | 105 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2153405128 | 106 | L>F | No | Ensembl | |
| rs2153405161 | 107 | A>G | No | Ensembl | |
| rs2153405147 | 107 | A>P | No | Ensembl | |
| rs2153405147 | 107 | A>S | No | Ensembl | |
| rs2153405147 | 107 | A>T | No | Ensembl | |
| rs2153405161 | 107 | A>V | No | Ensembl | |
| rs2153405172 | 108 | G>* | No | Ensembl | |
| rs2153405194 | 108 | G>E | No | Ensembl | |
| rs2153405172 | 108 | G>R | No | Ensembl | |
| rs2153405224 | 109 | Q>E | No | Ensembl | |
| rs2153405255 | 110 | A>G | No | Ensembl | |
| rs2153405241 | 110 | A>P | No | Ensembl | |
| rs2153405241 | 110 | A>S | No | Ensembl | |
| rs2153405241 | 110 | A>T | No | Ensembl | |
| rs2153405255 | 110 | A>V | No | Ensembl | |
| rs2153405270 | 111 | E>* | No | Ensembl | |
| rs758715591 | 111 | E>A | No |
ExAC gnomAD |
|
| rs2153405270 | 111 | E>K | No | Ensembl | |
| rs2153405270 | 111 | E>Q | No | Ensembl | |
| rs2153405306 | 112 | V>D | No | Ensembl | |
| rs2153405330 | 113 | V>A | No | Ensembl | |
|
rs2153405330 RCV002265424 |
113 | V>D | No |
ClinVar Ensembl dbSNP |
|
| rs2153405330 | 113 | V>G | No | Ensembl | |
|
CA16618025 RCV000486586 rs760895981 |
113 | V>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs760895981 | 113 | V>L | No |
TOPMed gnomAD |
|
| rs1562826841 | 114 | K>* | No |
TOPMed gnomAD |
|
| rs780411131 | 115 | V>D | No |
ExAC gnomAD |
|
| rs869025359 | 115 | V>L | No | Ensembl | |
| rs2153405432 | 116 | L>H | No | Ensembl | |
| rs2153405419 | 116 | L>I | No | Ensembl | |
| rs2153405419 | 116 | L>V | No | Ensembl | |
| rs892879418 | 117 | V>A | No | Ensembl | |
| rs892879418 | 117 | V>D | No | Ensembl | |
| rs755462825 | 117 | V>L | No |
ExAC gnomAD |
|
| rs1311169759 | 118 | K>E | No | gnomAD | |
| rs1584654018 | 118 | K>M | No | Ensembl | |
| rs1210706655 | 118 | K>N | No | gnomAD | |
| rs2153405560 | 119 | E>K | No | Ensembl | |
| rs2153405560 | 119 | E>Q | No | Ensembl | |
| rs2153405574 | 120 | G>* | No | Ensembl | |
| rs2153405587 | 120 | G>A | No | Ensembl | |
| rs2153405587 | 120 | G>E | No | Ensembl | |
| rs2153405574 | 120 | G>R | No | Ensembl | |
| rs2153405621 | 121 | A>D | No | Ensembl | |
| rs2153405621 | 121 | A>G | No | Ensembl | |
| rs2153405599 | 121 | A>P | No | Ensembl | |
|
TCGA novel rs2153405599 |
121 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2153405599 | 121 | A>T | No | Ensembl | |
| rs2153405621 | 121 | A>V | No | Ensembl | |
| rs1219556872 | 122 | N>K | No | gnomAD | |
| rs2153405647 | 122 | N>Y | No | Ensembl | |
| rs2153405691 | 123 | I>N | No | Ensembl | |
| rs1278827771 | 123 | I>V | No |
TOPMed gnomAD |
|
| rs2153405712 | 124 | N>D | No | Ensembl | |
| rs2153405728 | 124 | N>I | No | Ensembl | |
| rs2153405712 | 124 | N>Y | No | Ensembl | |
| rs1246337263 | 125 | A>G | No |
TOPMed gnomAD |
|
| rs1246337263 | 125 | A>V | No |
TOPMed gnomAD |
|
| rs2153405774 | 126 | Q>* | No | Ensembl | |
| rs2153405774 | 126 | Q>E | No | Ensembl | |
| rs770384149 | 126 | Q>R | No |
ExAC gnomAD |
|
| rs542795010 | 127 | S>Y | No |
1000Genomes ExAC gnomAD |
|
|
COSM3916989 COSM3916990 |
128 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1421250186 | 128 | Q>E | No | gnomAD | |
| rs1421250186 | 128 | Q>K | No | gnomAD | |
| rs2153405844 | 128 | Q>R | No | Ensembl | |
|
RCV001757422 rs2153534587 |
131 | F>missing | No |
ClinVar dbSNP |
|
| rs2099315820 | 132 | T>S | No | TOPMed | |
|
COSM6099133 COSM6099134 |
134 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2099315944 | 136 | M>V | No | TOPMed | |
| rs746771115 | 138 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs1470697863 | 138 | A>T | No | Ensembl | |
| rs746771115 | 138 | A>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2153534684 | 142 | H>Q | No | Ensembl | |
| rs2099316080 | 143 | I>T | No | Ensembl | |
| rs1332084547 | 145 | V>A | No | Ensembl | |
| rs1243575069 | 145 | V>I | No | Ensembl | |
| rs1313927549 | 150 | L>M | No | gnomAD | |
| rs1342754029 | 151 | E>A | No |
TOPMed gnomAD |
|
|
COSM5230593 COSM1485613 |
153 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761787736 | 154 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs911922672 | 155 | N>K | No | Ensembl | |
| TCGA novel | 155 | N>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769770623 | 159 | A>P | No |
ExAC gnomAD |
|
| rs764808318 | 160 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2099388837 | 162 | D>N | No | TOPMed | |
| rs372278263 | 166 | P>A | No | Ensembl | |
| COSM1050211 | 166 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1235335271 | 168 | A>D | No | gnomAD | |
| rs2099388856 | 168 | A>T | No | TOPMed | |
| rs267599985 | 169 | V>L | No | Ensembl | |
| TCGA novel | 172 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1453821513 | 177 | Q>H | No | gnomAD | |
| rs2099388932 | 177 | Q>L | No | gnomAD | |
| COSM287475 | 178 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs981901265 | 178 | A>S | No |
TOPMed gnomAD |
|
| rs981901265 | 178 | A>T | No |
TOPMed gnomAD |
|
| rs1196179302 | 179 | V>A | No | gnomAD | |
| rs1563082340 | 179 | V>M | No | Ensembl | |
| COSM731912 | 180 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2099389059 | 180 | A>T | No | TOPMed | |
| rs1361041187 | 184 | E>D | No |
TOPMed gnomAD |
|
|
COSM3775484 COSM3775485 |
184 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2099389159 | 187 | T>A | No | gnomAD | |
| TCGA novel | 194 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773203601 | 194 | P>T | No |
ExAC gnomAD |
|
| rs1341139969 | 195 | A>T | No |
TOPMed gnomAD |
|
|
COSM6166270 COSM6166269 |
196 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1131691850 RCV000493508 CA357916603 |
197 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs763603177 | 200 | A>S | No | TOPMed | |
| rs763603177 | 200 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1468313954 | 201 | R>S | No |
TOPMed gnomAD |
|
| rs2153556997 | 204 | D>G | No | Ensembl | |
| rs1465382581 | 206 | K>E | No | TOPMed | |
| TCGA novel | 208 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1060501154 | 209 | A>T | No |
TOPMed gnomAD |
|
| COSM420238 | 216 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1051245626 | 217 | N>I | No | Ensembl | |
| TCGA novel | 218 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754260420 | 221 | Q>R | No |
ExAC gnomAD |
|
| rs1216746817 | 222 | S>P | No |
TOPMed gnomAD |
|
|
COSM3006947 COSM4121431 |
223 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1199247547 | 223 | K>R | No | TOPMed | |
|
COSM3824990 COSM3824991 |
224 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1563087315 | 225 | M>L | No | Ensembl | |
| rs2153558610 | 225 | M>T | No | Ensembl | |
| rs1180920892 | 228 | R>G | No | gnomAD | |
| rs766057242 | 228 | R>M | No |
ExAC gnomAD |
|
| TCGA novel | 234 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770405996 | 235 | T>A | No |
ExAC gnomAD |
|
|
COSM4121433 COSM4121432 |
238 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 238 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1050212 | 238 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs759136608 | 244 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1401488247 | 246 | V>F | No | gnomAD | |
| rs2039212522 | 249 | A>E | No | Ensembl | |
|
COSM6166265 COSM6166266 |
249 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2153567623 | 249 | A>S | No | Ensembl | |
| rs1200161779 | 251 | L>V | No | TOPMed | |
| rs1239009155 | 255 | R>W | No |
TOPMed gnomAD |
|
| rs944870683 | 259 | V>M | No | Ensembl | |
| rs773215795 | 262 | T>A | No | Ensembl | |
| rs2040297137 | 265 | N>D | No | Ensembl | |
| rs2040298236 | 265 | N>I | No | gnomAD | |
| rs111585467 | 265 | N>K | No | Ensembl | |
| rs2040298236 | 265 | N>S | No | gnomAD | |
| rs1323398857 | 266 | G>A | No | gnomAD | |
| rs1563115083 | 266 | G>R | No |
TOPMed gnomAD |
|
|
RCV002265407 rs2153573358 |
267 | I>L | No |
ClinVar Ensembl dbSNP |
|
| rs2040303748 | 267 | I>M | No | Ensembl | |
| rs2153573366 | 267 | I>N | No | Ensembl | |
|
rs2153573388 COSM1729406 |
268 | T>S | liver [Cosmic] | No |
cosmic curated Ensembl |
|
rs2153573397 COSM1729406 |
268 | T>S | liver [Cosmic] | No |
cosmic curated Ensembl |
| rs1260008727 | 269 | P>A | No |
TOPMed gnomAD |
|
| rs2153573406 | 269 | P>H | No | Ensembl | |
| rs2153573406 | 269 | P>L | No | Ensembl | |
| rs2153573406 | 269 | P>R | No | Ensembl | |
| rs2153573428 | 270 | L>Q | No | Ensembl | |
| rs2153573422 | 270 | L>V | No | Ensembl | |
| rs2153573445 | 271 | H>D | No | Ensembl | |
| rs2153573459 | 271 | H>L | No | Ensembl | |
| rs774848857 | 271 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs2153573480 | 272 | V>L | No | 1000Genomes | |
| rs2153573480 | 272 | V>M | No | 1000Genomes | |
| rs2153573526 | 273 | A>D | No | Ensembl | |
| rs2153573526 | 273 | A>G | No | Ensembl | |
| rs2153573506 | 273 | A>P | No | Ensembl | |
| rs2153573506 | 273 | A>S | No | Ensembl | |
| rs2153573506 | 273 | A>T | No | Ensembl | |
| rs2153573526 | 273 | A>V | No | Ensembl | |
| rs2153573550 | 274 | S>C | No | Ensembl | |
| rs2153573550 | 274 | S>F | No | Ensembl | |
| rs2153573541 | 274 | S>T | No | Ensembl | |
| rs2153573550 | 274 | S>Y | No | Ensembl | |
| rs2153573560 | 275 | K>E | No | Ensembl | |
|
rs786205719 COSM460710 |
276 | R>T | cervix Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs2040310477 | 277 | G>A | No | TOPMed | |
| rs2040310477 | 277 | G>E | No | TOPMed | |
| rs2153573587 | 277 | G>R | No | Ensembl | |
| rs1057523315 | 278 | N>K | No | Ensembl | |
| rs2153573621 | 279 | T>I | No | Ensembl | |
| rs2153573616 | 279 | T>P | No | Ensembl | |
| rs2153573621 | 279 | T>R | No | Ensembl | |
| rs1430209718 | 280 | N>I | No | TOPMed | |
| rs1247494820 | 280 | N>K | No |
TOPMed gnomAD |
|
| rs1430209718 | 280 | N>S | No | TOPMed | |
| rs1430209718 | 280 | N>T | No | TOPMed | |
| rs2153573669 | 281 | M>I | No | Ensembl | |
| rs2153573650 | 281 | M>L | No | Ensembl | |
| rs1343676296 | 281 | M>T | No | TOPMed | |
| rs886059009 | 282 | V>M | No | Ensembl | |
| rs2153573710 | 283 | K>* | No | Ensembl | |
| rs2153573715 | 283 | K>M | No | Ensembl | |
| rs2153573725 | 283 | K>N | No | Ensembl | |
| rs760423045 | 284 | L>I | No |
ExAC gnomAD |
|
| rs760423045 | 284 | L>V | No |
ExAC gnomAD |
|
| rs2153573763 | 285 | L>* | No | Ensembl | |
| rs2153573772 | 285 | L>F | No | Ensembl | |
| rs2153573756 | 285 | L>I | No | Ensembl | |
| rs2153573783 | 286 | L>M | No | Ensembl | |
| rs2153573783 | 286 | L>V | No | Ensembl | |
|
rs2153573810 COSM1050213 |
287 | D>E | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2153573794 | 287 | D>H | No | Ensembl | |
| rs2153573794 | 287 | D>N | No | Ensembl | |
| rs2153573794 | 287 | D>Y | No | Ensembl | |
|
COSM4511275 COSM110491 rs146907003 |
288 | R>* | Variant assessed as Somatic; HIGH impact. endometrium skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs146907003 | 288 | R>G | No | TOPMed | |
| rs1585820290 | 288 | R>P | No | Ensembl | |
|
COSM5589642 COSM5589641 rs1585820290 |
288 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2153573850 | 289 | G>A | No | Ensembl | |
| rs2153573843 | 289 | G>R | No | Ensembl | |
| rs2153573879 | 290 | G>A | No | Ensembl | |
| rs2153573879 | 290 | G>D | No | Ensembl | |
| rs761620495 | 290 | G>R | No |
ExAC gnomAD |
|
|
rs2153573902 RCV001569135 |
291 | Q>* | No |
ClinVar Ensembl dbSNP |
|
| rs2153573902 | 291 | Q>E | No | Ensembl | |
| rs2153573926 | 291 | Q>H | No | Ensembl | |
| rs2153573914 | 291 | Q>L | No | Ensembl | |
| rs746556934 | 292 | I>M | No |
ExAC gnomAD |
|
| rs2153573943 | 292 | I>N | No | Ensembl | |
| rs2153573935 | 292 | I>V | No | Ensembl | |
| rs2153573969 | 293 | D>E | No | Ensembl | |
| rs752213208 | 293 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs2153573990 | 294 | A>D | No | Ensembl | |
| rs2153573990 | 294 | A>G | No | Ensembl | |
| rs1421476490 | 294 | A>P | No | gnomAD | |
| rs1421476490 | 294 | A>T | No | gnomAD | |
| rs2153573990 | 294 | A>V | No | Ensembl | |
| rs2153574008 | 295 | K>* | No | Ensembl | |
| rs2153574011 | 295 | K>I | No | Ensembl | |
| rs2153574018 | 296 | T>P | No | Ensembl | |
| rs2153574029 | 296 | T>S | No | Ensembl | |
| rs2153574045 | 297 | R>K | No | Ensembl | |
| rs867399017 | 297 | R>S | No | Ensembl | |
| rs2153574045 | 297 | R>T | No | Ensembl | |
| rs2153601330 | 298 | D>H | No | Ensembl | |
| rs1003776131 | 299 | G>A | No | Ensembl | |
| rs1003776131 | 299 | G>E | No | Ensembl | |
|
COSM3775487 COSM3775486 |
299 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1003776131 | 299 | G>V | No | Ensembl | |
| rs2153601371 | 300 | L>F | No | Ensembl | |
| rs2153601362 | 300 | L>M | No | Ensembl | |
| rs2153601362 | 300 | L>V | No | Ensembl | |
|
rs2153601383 COSM1050214 |
301 | T>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2153601383 | 301 | T>R | No | Ensembl | |
| rs2153601378 | 301 | T>S | No | Ensembl | |
| rs2153601394 | 302 | P>A | No | Ensembl | |
| rs2153601406 | 302 | P>L | No | Ensembl | |
| rs2153601394 | 302 | P>S | No | Ensembl | |
| rs2153601430 | 303 | L>H | No | Ensembl | |
| rs2153601424 | 303 | L>V | No | Ensembl | |
| rs2153601441 | 304 | H>D | No | Ensembl | |
| rs2153601447 | 304 | H>L | No | Ensembl | |
| rs2153601457 | 304 | H>Q | No | Ensembl | |
| rs2153601441 | 304 | H>Y | No | Ensembl | |
| rs2153601473 | 305 | C>* | No | Ensembl | |
| rs2153601468 | 305 | C>Y | No | Ensembl | |
| rs2153601483 | 306 | A>T | No | Ensembl | |
| rs2153601488 | 306 | A>V | No | 1000Genomes | |
| rs2153601525 | 307 | A>E | No | Ensembl | |
| rs2153601525 | 307 | A>G | No | Ensembl | |
| rs565267150 | 307 | A>P | No |
1000Genomes ExAC gnomAD |
|
| rs565267150 | 307 | A>T | No |
1000Genomes ExAC gnomAD |
|
| rs2153601525 | 307 | A>V | No | Ensembl | |
| rs2045149636 | 308 | R>* | No | TOPMed | |
| rs2045149636 | 308 | R>G | No | TOPMed | |
| rs1474105619 | 308 | R>P | No | gnomAD | |
|
COSM3599231 COSM3599230 rs1474105619 |
308 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs2045150932 | 308 | R>Q* | No | Ensembl | |
| rs2153601551 | 309 | S>G | No | Ensembl | |
| rs2153601555 | 309 | S>T | No | Ensembl | |
| rs2153601572 | 310 | G>A | No | Ensembl | |
| rs2153601572 | 310 | G>E | No | Ensembl | |
| rs2153601572 | 310 | G>V | No | Ensembl | |
| rs2153601565 | 310 | G>W | No | Ensembl | |
| rs755022159 | 311 | H>D | No |
ExAC gnomAD |
|
| rs2153601601 | 311 | H>Q | No | Ensembl | |
| rs755022159 | 311 | H>Y | No |
ExAC gnomAD |
|
| rs767562838 | 312 | D>E | No |
ExAC gnomAD |
|
|
rs2153601606 COSM1426437 COSM3365466 |
312 | D>G | kidney large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2153601624 | 313 | Q>* | No | Ensembl | |
| rs2153601624 | 313 | Q>E | No | Ensembl | |
| rs2153601631 | 313 | Q>H | No | Ensembl | |
| rs2153601624 | 313 | Q>K | No | Ensembl | |
| rs1563166056 | 314 | V>A | No | Ensembl | |
| rs2045157208 | 314 | V>L | No | Ensembl | |
| rs2045157208 | 314 | V>M | No | Ensembl | |
| rs2153601671 | 315 | V>L | No | Ensembl | |
| rs2153601671 | 315 | V>M | No | Ensembl | |
| rs1035286944 | 316 | E>D | No | Ensembl | |
| rs2153601675 | 316 | E>K | No | Ensembl | |
| rs2153601675 | 316 | E>Q | No | Ensembl | |
| rs2153601681 | 316 | E>V | No | Ensembl | |
| rs1339047079 | 317 | L>F | No | gnomAD | |
| rs2153601706 | 317 | L>H | No | Ensembl | |
| rs1339047079 | 317 | L>V | No | gnomAD | |
| rs2153601712 | 318 | L>V | No | Ensembl | |
|
COSM6099130 COSM6099129 |
319 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2153601732 | 319 | L>M | No | Ensembl | |
| rs2153601749 | 319 | L>S | No | Ensembl | |
| rs2153601759 | 320 | E>* | No | Ensembl | |
| rs2153601772 | 320 | E>D | No | Ensembl | |
| rs2153601766 | 320 | E>G | No | Ensembl | |
| rs2153601759 | 320 | E>Q | No | Ensembl | |
| rs150226540 | 321 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs1586091492 | 322 | G>A | No | Ensembl | |
| rs2153601800 | 322 | G>S | No | Ensembl | |
| rs1586091492 | 322 | G>V | No | Ensembl | |
| rs2153601826 | 323 | A>D | No | Ensembl | |
| rs2153601826 | 323 | A>G | No | Ensembl | |
|
rs2153601826 RCV001768323 |
323 | A>V | No |
ClinVar Ensembl dbSNP |
|
| rs2153601841 | 324 | P>A | No | Ensembl | |
| rs1354755858 | 324 | P>L | No | gnomAD | |
| rs1354755858 | 324 | P>R | No | gnomAD | |
| rs2153601841 | 324 | P>S | No | Ensembl | |
| rs2045174589 | 325 | L>F | No | gnomAD | |
| rs779311752 | 325 | L>V | No |
ExAC gnomAD |
|
| rs2153601895 | 327 | A>G | No | Ensembl | |
| rs2153601884 | 327 | A>P | No | Ensembl | |
| rs2153601884 | 327 | A>T | No | Ensembl | |
| rs2153601895 | 327 | A>V | No | Ensembl | |
| rs2153601905 | 328 | R>K | No | Ensembl | |
| rs2153601905 | 328 | R>M | No | Ensembl | |
| rs2153601912 | 328 | R>S | No | Ensembl | |
| rs2153601932 | 329 | T>I | No | Ensembl | |
| rs2153601924 | 329 | T>S | No | Ensembl | |
| rs2153601932 | 329 | T>S | No | Ensembl | |
| rs2045178375 | 330 | K>E | No | TOPMed | |
|
rs972895261 TCGA novel |
330 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2153601950 | 330 | K>R | No | Ensembl | |
| rs1176403486 | 335 | P>S | No |
TOPMed gnomAD |
|
|
COSM4121434 COSM4121435 |
340 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM6099128 COSM6099127 |
341 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1586293108 | 341 | Q>P | No | Ensembl | |
| rs544855570 | 343 | D>E | No |
1000Genomes ExAC gnomAD |
|
| rs750961324 | 344 | H>Q | No |
ExAC gnomAD |
|
|
RCV000998263 rs1280880991 |
345 | V>M | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs758931317 | 348 | V>E | No |
ExAC TOPMed gnomAD |
|
| rs560233021 | 349 | K>E | No |
1000Genomes ExAC gnomAD |
|
| rs769257583 | 350 | H>Y | No |
ExAC gnomAD |
|
| rs2049000396 | 354 | H>R | No | Ensembl | |
| rs375189482 | 354 | H>Y | No |
ESP TOPMed gnomAD |
|
| rs2153626620 | 356 | A>E | No | Ensembl | |
| rs1276438357 | 356 | A>T | No | gnomAD | |
| rs2049005904 | 357 | P>T | No | gnomAD | |
| rs527324992 | 358 | V>L | No | Ensembl | |
| rs2049009368 | 360 | D>N | No | Ensembl | |
| rs1586294567 | 362 | T>P | No | Ensembl | |
| rs1586294763 | 365 | Y>S | No | Ensembl | |
|
rs2153626697 RCV001768269 |
367 | T>R | No |
ClinVar Ensembl dbSNP |
|
| rs2049017406 | 371 | V>A | No | gnomAD | |
| rs1458712708 | 372 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2049019447 | 373 | A>T | No | gnomAD | |
| rs182536026 | 377 | H>Y | No | 1000Genomes | |
| TCGA novel | 378 | Y>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs143043717 | 379 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000170727 rs786205732 CA301016 |
381 | T>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs786205732 | 381 | T>N | No | gnomAD | |
| rs2049030194 | 383 | L>H | No |
TOPMed gnomAD |
|
| rs765580535 | 386 | D>V | No | ExAC | |
| rs531276886 | 388 | R>G | No |
1000Genomes ExAC gnomAD |
|
| rs200799668 | 388 | R>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs766907662 | 390 | N>S | No |
ExAC gnomAD |
|
|
COSM6099125 COSM6099126 |
391 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756908197 | 394 | R>T | No |
ExAC gnomAD |
|
| rs1449044036 | 395 | A>T | No | TOPMed | |
| rs2153633489 | 397 | N>Y | No | Ensembl | |
| rs747002438 | 398 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs2153633512 | 399 | F>V | No | Ensembl | |
| rs768694556 | 400 | T>I | No |
ExAC gnomAD |
|
| rs768694556 | 400 | T>N | No |
ExAC gnomAD |
|
| rs2153633522 | 400 | T>P | No | Ensembl | |
| rs768694556 | 400 | T>S | No |
ExAC gnomAD |
|
| rs2153633522 | 400 | T>S | No | Ensembl | |
| rs2153633535 | 401 | P>A | No | Ensembl | |
| rs2153633558 | 401 | P>L | No | Ensembl | |
|
rs2153633558 COSM387478 |
401 | P>Q | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2153633558 | 401 | P>R | No | Ensembl | |
| rs2153633535 | 401 | P>S | No | Ensembl | |
| rs2153633589 | 402 | L>Q | No | Ensembl | |
| rs2153633575 | 402 | L>V | No | Ensembl | |
| rs2050499312 | 403 | H>D | No | Ensembl | |
| rs2153633620 | 403 | H>L | No | Ensembl | |
| rs748292788 | 403 | H>Q | No |
ExAC gnomAD |
|
| rs2153633620 | 403 | H>R | No | Ensembl | |
| rs2153633642 | 404 | I>F | No | Ensembl | |
| rs2050501491 | 404 | I>N | No | Ensembl | |
| rs2050501491 | 404 | I>T | No | Ensembl | |
| rs769717194 | 405 | A>G | No |
ExAC gnomAD |
|
| rs2153633655 | 405 | A>P | No | Ensembl | |
| rs2153633655 | 405 | A>T | No | Ensembl | |
| rs769717194 | 405 | A>V | No |
ExAC gnomAD |
|
| rs978386949 | 406 | C>* | No | TOPMed | |
|
rs2153633679 COSM3365426 COSM3365425 |
406 | C>R | kidney [Cosmic] | No |
cosmic curated Ensembl |
| rs2153633679 | 406 | C>S | No | Ensembl | |
| rs2153633687 | 406 | C>S | No | Ensembl | |
| rs978386949 | 406 | C>W | No | TOPMed | |
| rs2153633687 | 406 | C>Y | No | Ensembl | |
| rs2153633704 | 408 | K>I | No | Ensembl | |
| rs773501036 | 409 | N>K | No |
ExAC gnomAD |
|
| rs2050505540 | 409 | N>T | No | gnomAD | |
| rs2153633716 | 409 | N>Y | No | Ensembl | |
| rs41279311 | 410 | R>C | No |
1000Genomes TOPMed gnomAD |
|
| rs41279311 | 410 | R>G | No |
1000Genomes TOPMed gnomAD |
|
| rs786205720 | 410 | R>H | No |
TOPMed gnomAD |
|
|
RCV000170673 rs786205720 CA300775 |
410 | R>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs786205720 | 410 | R>P | No |
TOPMed gnomAD |
|
| rs1383586240 | 411 | I>F | No | gnomAD | |
| rs2153633773 | 411 | I>M | No | Ensembl | |
| rs2153633768 | 411 | I>N | No | Ensembl | |
| rs2050513171 | 412 | K>* | No | Ensembl | |
| rs2050513171 | 412 | K>E | No | Ensembl | |
| rs2153633788 | 412 | K>I | No | Ensembl | |
|
rs2153633817 RCV002224361 |
413 | V>D | No |
ClinVar Ensembl dbSNP |
|
| rs1469551110 | 413 | V>I | No | Ensembl | |
| rs1469551110 | 413 | V>L | No | Ensembl | |
| rs2153633844 | 414 | M>I | No | Ensembl | |
| rs2050516626 | 414 | M>L | No | Ensembl | |
| rs766783259 | 414 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs34145832 | 415 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2153633855 | 415 | E>K | No | Ensembl | |
| rs2153633855 | 415 | E>Q | No | Ensembl | |
| rs2153633889 | 416 | L>Q | No | Ensembl | |
| rs2153633879 | 416 | L>V | No | Ensembl | |
| rs2153633902 | 417 | L>V | No | Ensembl | |
| rs2050521350 | 418 | V>A | No | TOPMed | |
| rs2050521350 | 418 | V>E | No | TOPMed | |
| rs760073103 | 418 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs768099021 | 420 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs570730154 | 421 | G>A | No | 1000Genomes | |
| rs570730154 | 421 | G>E | No | 1000Genomes | |
| rs2153633963 | 421 | G>R | No | Ensembl | |
| rs570730154 | 421 | G>V | No | 1000Genomes | |
| rs2153633963 | 421 | G>W | No | Ensembl | |
| rs2153634016 | 422 | A>D | No | Ensembl | |
| rs2153634016 | 422 | A>G | No | Ensembl | |
| rs2050527162 | 422 | A>P | No | TOPMed | |
| rs2050527162 | 422 | A>S | No | TOPMed | |
| rs2050527162 | 422 | A>T | No | TOPMed | |
| rs2153634031 | 423 | S>P | No | Ensembl | |
| rs2153634031 | 423 | S>T | No | Ensembl | |
| rs2153634054 | 424 | I>F | No | Ensembl | |
| rs2050530774 | 424 | I>M | No | TOPMed | |
| rs2153634077 | 425 | Q>* | No | Ensembl | |
| rs2153634077 | 425 | Q>E | No | Ensembl | |
| rs2153634077 | 425 | Q>K | No | Ensembl | |
| rs2153634102 | 426 | A>G | No | Ensembl | |
| rs2153634094 | 426 | A>P | No | Ensembl | |
| rs2153634094 | 426 | A>T | No | Ensembl | |
| rs2153634119 | 427 | I>K | No | Ensembl | |
| rs750168379 | 427 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs2153634119 | 427 | I>T | No | Ensembl | |
| rs780045702 | 428 | T>K | No |
ExAC gnomAD |
|
| rs780045702 | 428 | T>R | No |
ExAC gnomAD |
|
| rs2153634139 | 428 | T>S | No | Ensembl | |
| rs2153634165 | 429 | E>D | No | Ensembl | |
|
rs2153634157 COSM4524651 COSM4524652 |
429 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2153634157 | 429 | E>Q | No | Ensembl | |
| TCGA novel | 430 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 431 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755979192 | 435 | I>V | No |
ExAC gnomAD |
|
| COSM1309634 | 437 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs749399292 | 437 | V>M | No |
ExAC gnomAD |
|
| rs770948093 | 438 | A>S | No |
ExAC gnomAD |
|
| rs1352364554 | 439 | A>V | No | gnomAD | |
| rs779120500 | 443 | H>P | No |
ExAC gnomAD |
|
| rs1343952200 | 445 | N>S | No |
TOPMed gnomAD |
|
| rs2050673585 | 446 | I>T | No | Ensembl | |
| rs2153635096 | 446 | I>V | No | Ensembl | |
| rs1433218441 | 447 | V>A | No | gnomAD | |
| rs2153635147 | 449 | L>R | No | Ensembl | |
| rs1281919881 | 451 | L>V | No | gnomAD | |
| rs148672278 | 453 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1375276488 COSM116701 COSM3365467 |
453 | N>S | kidney ovary [Cosmic] | No |
cosmic curated Ensembl |
| rs775705520 | 454 | G>R | No |
ExAC gnomAD |
|
| rs1305931806 | 455 | A>G | No |
TOPMed gnomAD |
|
| rs2050687498 | 455 | A>S | No | TOPMed | |
| rs1305931806 | 455 | A>V | No |
TOPMed gnomAD |
|
| rs2153635230 | 456 | S>F | No | Ensembl | |
| rs1265740019 | 457 | P>T | No | gnomAD | |
|
rs786205721 RCV000170675 CA300785 |
458 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs375167175 | 459 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs370499460 | 460 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs956938799 | 462 | I>M | No | gnomAD | |
| rs1427251703 | 463 | R>C | No |
TOPMed gnomAD |
|
| rs865869963 | 464 | G>C | No | Ensembl | |
| rs2055079748 | 464 | G>V | No |
TOPMed gnomAD |
|
| rs1320842926 | 465 | E>D | No | gnomAD | |
| rs1060501161 | 467 | A>T | No | gnomAD | |
| rs2055087735 | 469 | H>Q | No | Ensembl | |
|
RCV000483275 rs1064796386 CA16618026 |
470 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs759269047 | 471 | A>T | No |
ExAC gnomAD |
|
| rs1314025647 | 471 | A>V | No | gnomAD | |
| rs1225313063 | 473 | R>Q | No | gnomAD | |
| rs2055097765 | 474 | A>G | No | Ensembl | |
| rs867827007 | 474 | A>S | No | Ensembl | |
| rs36210415 | 475 | G>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1586584147 | 477 | V>G | No | Ensembl | |
| rs1210154983 | 477 | V>M | No | gnomAD | |
| rs2055107331 | 478 | E>* | No | TOPMed | |
| rs2055108556 | 479 | V>M | No | TOPMed | |
| rs2055112064 | 480 | V>A | No | TOPMed | |
| rs2055110857 | 480 | V>I | No | Ensembl | |
| rs576018476 | 482 | C>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs576018476 | 482 | C>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM1050215 | 488 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2153658266 | 489 | L>F | No | Ensembl | |
| rs2153658270 | 489 | L>R | No | Ensembl | |
| rs2055126437 | 490 | V>F | No | Ensembl | |
| rs2055126437 | 490 | V>I | No | Ensembl | |
| rs112178659 | 491 | D>N | No | Ensembl | |
| rs1441931470 | 492 | A>G | No | Ensembl | |
| TCGA novel | 492 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757173182 | 493 | R>T | No |
ExAC gnomAD |
|
| rs1320297876 | 494 | A>G | No |
TOPMed gnomAD |
|
| rs1244646473 | 494 | A>P | No | TOPMed | |
| rs2055133958 | 495 | R>T | No |
TOPMed gnomAD |
|
| rs2153687852 | 496 | E>* | No | Ensembl | |
| rs1326538631 | 496 | E>D | No |
TOPMed gnomAD |
|
| rs2153687852 | 496 | E>K | No | Ensembl | |
| rs2153687852 | 496 | E>Q | No | Ensembl | |
| rs2153687861 | 496 | E>V | No | Ensembl | |
| rs2153687880 | 497 | E>D | No | Ensembl | |
| rs2153687870 | 497 | E>K | No | Ensembl | |
| rs2153687870 | 497 | E>Q | No | Ensembl | |
| rs2153687896 | 498 | Q>E | No | Ensembl | |
| rs2153687908 | 498 | Q>H | No | Ensembl | |
| rs2153687903 | 498 | Q>L | No | Ensembl | |
| rs2153687916 | 499 | T>P | No | Ensembl | |
| rs2153687921 | 499 | T>R | No | Ensembl | |
| rs2153687935 | 500 | P>A | No | Ensembl | |
| rs2153687952 | 501 | L>* | No | Ensembl | |
| rs2153687960 | 501 | L>F | No | Ensembl | |
| rs2153687944 | 501 | L>I | No | Ensembl | |
| rs2059555252 | 502 | H>D | No | Ensembl | |
| rs1334949783 | 502 | H>L | No |
TOPMed gnomAD |
|
| rs771550268 | 502 | H>Q | No |
ExAC gnomAD |
|
| rs1334949783 | 502 | H>R | No |
TOPMed gnomAD |
|
| rs2059555252 | 502 | H>Y | No | Ensembl | |
| rs2153687990 | 503 | I>F | No | Ensembl | |
| rs2153687996 | 503 | I>N | No | Ensembl | |
| rs2153687990 | 503 | I>V | No | Ensembl | |
| rs1303233267 | 504 | A>D | No |
TOPMed gnomAD |
|
| rs1303233267 | 504 | A>G | No |
TOPMed gnomAD |
|
| rs2059557903 | 504 | A>P | No | TOPMed | |
| rs2059557903 | 504 | A>S | No | TOPMed | |
| rs2059557903 | 504 | A>T | No | TOPMed | |
|
RCV002223218 rs1303233267 RCV000508213 CA357906576 |
504 | A>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs2153688035 | 505 | S>A | No | Ensembl | |
| rs2153688035 | 505 | S>P | No | Ensembl | |
| rs2153688035 | 505 | S>T | No | Ensembl | |
| rs1343616746 | 506 | R>C | No |
TOPMed gnomAD |
|
| rs1343616746 | 506 | R>G | No |
TOPMed gnomAD |
|
|
rs760370075 COSM6099123 COSM585400 COSM6099124 |
506 | R>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ExAC gnomAD |
| rs760370075 | 506 | R>P | No |
ExAC gnomAD |
|
| rs2153688077 | 507 | L>M | No | Ensembl | |
| rs2153688077 | 507 | L>V | No | Ensembl | |
| rs2153688110 | 508 | G>A | No | Ensembl | |
| rs2153688101 | 508 | G>C | No | Ensembl | |
| rs2153688110 | 508 | G>D | No | Ensembl | |
| rs2153688101 | 508 | G>R | No | Ensembl | |
| rs2153688101 | 508 | G>S | No | Ensembl | |
| rs2153688130 | 509 | K>* | No | Ensembl | |
| rs2153688130 | 509 | K>E | No | Ensembl | |
| rs2153688141 | 509 | K>M | No | Ensembl | |
| rs1258169809 | 509 | K>N | No | gnomAD | |
| rs2059561963 | 510 | T>A | No | Ensembl | |
| rs1340970001 | 510 | T>I | No | gnomAD | |
| rs1340970001 | 510 | T>R | No | gnomAD | |
| rs2059561963 | 510 | T>S | No | Ensembl | |
| rs2153688171 | 511 | E>G | No | Ensembl | |
| rs2153688167 | 511 | E>K | No | Ensembl | |
| rs2153688167 | 511 | E>Q | No | Ensembl | |
| rs2153688196 | 512 | I>M | No | Ensembl | |
| rs2153688185 | 512 | I>N | No | Ensembl | |
| rs2153688185 | 512 | I>S | No | Ensembl | |
| rs2059563938 | 513 | V>I | No | gnomAD | |
| rs2059563938 | 513 | V>L | No | gnomAD | |
| rs2153688220 | 514 | Q>* | No | Ensembl | |
| rs2153688227 | 514 | Q>H | No | Ensembl | |
| rs2153688224 | 514 | Q>L | No | Ensembl | |
| rs2153688239 | 515 | L>Q | No | Ensembl | |
| rs2153688237 | 515 | L>V | No | Ensembl | |
| rs2153688254 | 516 | L>F | No | Ensembl | |
| rs2153688265 | 516 | L>H | No | Ensembl | |
| rs2153688254 | 516 | L>I | No | Ensembl | |
| rs2153688265 | 516 | L>P | No | Ensembl | |
| rs2153688254 | 516 | L>V | No | Ensembl | |
| rs768496678 | 517 | L>V | No |
ExAC gnomAD |
|
| rs2153688300 | 518 | Q>* | No | Ensembl | |
| rs2153688300 | 518 | Q>E | No | Ensembl | |
|
RCV000170677 rs761779843 RCV002399601 CA300795 |
518 | Q>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2153688308 | 518 | Q>L | No | Ensembl | |
| rs2153688320 | 519 | H>D | No | Ensembl | |
| rs2153688327 | 519 | H>L | No | Ensembl | |
| rs2153688327 | 519 | H>P | No | Ensembl | |
| rs2153688320 | 519 | H>Y | No | Ensembl | |
| COSM731911 | 520 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1539207 COSM6166259 rs2153688341 COSM6166260 |
520 | M>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
| rs2153688341 | 520 | M>V | No | Ensembl | |
| rs2153688359 | 521 | A>D | No | Ensembl | |
| rs2153688359 | 521 | A>G | No | Ensembl | |
| rs2153688347 | 521 | A>P | No | Ensembl | |
| rs2153688347 | 521 | A>S | No | Ensembl | |
| rs2153688347 | 521 | A>T | No | Ensembl | |
| rs2153688359 | 521 | A>V | No | Ensembl | |
| rs765190989 | 522 | H>D | No |
ExAC TOPMed gnomAD |
|
| rs2153688380 | 522 | H>L | No | Ensembl | |
| rs2153688390 | 523 | P>A | No | Ensembl | |
| rs1479762951 | 523 | P>L | No | gnomAD | |
| rs1479762951 | 523 | P>R | No | gnomAD | |
| rs2153688390 | 523 | P>S | No | Ensembl | |
| rs2153688390 | 523 | P>T | No | Ensembl | |
| rs2153688430 | 524 | D>E | No | Ensembl | |
| rs2153688412 | 524 | D>H | No | Ensembl | |
| rs2153688412 | 524 | D>N | No | Ensembl | |
| rs2153688423 | 524 | D>V | No | Ensembl | |
| rs2153688412 | 524 | D>Y | No | Ensembl | |
| rs1198719430 | 525 | A>G | No | gnomAD | |
| rs2153688459 | 526 | A>D | No | Ensembl | |
| rs2153688459 | 526 | A>G | No | Ensembl | |
| rs1191027569 | 526 | A>P | No | TOPMed | |
| rs1191027569 | 526 | A>S | No | TOPMed | |
| rs1191027569 | 526 | A>T | No | TOPMed | |
| rs2153688459 | 526 | A>V | No | Ensembl | |
| rs2153688481 | 527 | T>S | No | Ensembl | |
| rs374707634 | 527 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2153688509 | 528 | T>I | No | Ensembl | |
| rs2153688509 | 528 | T>K | No | Ensembl | |
| rs2153688501 | 528 | T>P | No | Ensembl | |
| rs2153688509 | 528 | T>R | No | Ensembl | |
| rs2153688501 | 528 | T>S | No | Ensembl | |
| rs1396114703 | 529 | N>D | No | gnomAD | |
| rs751799861 | 529 | N>I | No |
ExAC gnomAD |
|
| rs751799861 | 529 | N>S | No |
ExAC gnomAD |
|
| rs751799861 | 529 | N>T | No |
ExAC gnomAD |
|
| rs1396114703 | 529 | N>Y | No | gnomAD | |
| rs2153688564 | 530 | G>A | No | Ensembl | |
| rs2153688564 | 530 | G>E | No | Ensembl | |
| rs1181773712 | 530 | G>R | No |
TOPMed gnomAD |
|
| rs2153688564 | 530 | G>V | No | Ensembl | |
| rs2153688584 | 531 | Y>* | No | Ensembl | |
| rs1482506474 | 531 | Y>C | No | TOPMed | |
| rs2153688576 | 531 | Y>D | No | Ensembl | |
| rs1482506474 | 531 | Y>F | No | TOPMed | |
| rs2153688576 | 531 | Y>N | No | Ensembl | |
| rs1482506474 | 531 | Y>S | No | TOPMed | |
| rs368759924 | 532 | T>I | No | ESP | |
| rs2153688593 | 532 | T>P | No | Ensembl | |
| rs368759924 | 532 | T>R | No | ESP | |
| rs2153688593 | 532 | T>S | No | Ensembl | |
| rs2153688612 | 533 | P>A | No | Ensembl | |
| rs2153688612 | 533 | P>S | No | Ensembl | |
| rs2153688612 | 533 | P>T | No | Ensembl | |
| rs2153688632 | 534 | L>M | No | Ensembl | |
| rs2153688640 | 534 | L>P | No | Ensembl | |
| rs2153688640 | 534 | L>Q | No | Ensembl | |
| rs2153688632 | 534 | L>V | No | Ensembl | |
| rs2153688656 | 535 | H>D | No | Ensembl | |
| rs2153688665 | 535 | H>L | No | Ensembl | |
| rs2153688656 | 535 | H>N | No | Ensembl | |
| rs2153688665 | 535 | H>P | No | Ensembl | |
| rs2153688673 | 535 | H>Q | No | Ensembl | |
| rs2153688656 | 535 | H>Y | No | Ensembl | |
| rs2153688679 | 536 | I>F | No | Ensembl | |
| rs2153688679 | 536 | I>L | No | Ensembl | |
| rs2153688699 | 536 | I>M | No | Ensembl | |
| rs2153688689 | 536 | I>N | No | Ensembl | |
| rs2153688689 | 536 | I>T | No | Ensembl | |
| rs2153688679 | 536 | I>V | No | Ensembl | |
| rs2153688717 | 537 | S>C | No | Ensembl | |
| rs2153688717 | 537 | S>F | No | Ensembl | |
| rs2153688707 | 537 | S>P | No | Ensembl | |
| rs2153688707 | 537 | S>T | No | Ensembl | |
| rs2153688717 | 537 | S>Y | No | Ensembl | |
| rs753139159 | 538 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs753139159 | 538 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs781717043 | 538 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs781717043 | 538 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs781717043 | 538 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs756495481 | 539 | R>G | No |
ExAC TOPMed gnomAD |
|
|
TCGA novel rs927869437 |
539 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs927869437 | 539 | R>P | No |
TOPMed gnomAD |
|
| rs536567990 | 540 | E>D | No |
1000Genomes ExAC gnomAD |
|
| rs2153688799 | 540 | E>G | No | Ensembl | |
| rs2153688788 | 540 | E>K | No | Ensembl | |
| rs2153688788 | 540 | E>Q | No | Ensembl | |
| rs2153688799 | 540 | E>V | No | Ensembl | |
| rs2153688819 | 541 | G>R | No | Ensembl | |
| rs2153688819 | 541 | G>S | No | Ensembl | |
| rs2153688840 | 542 | Q>* | No | Ensembl | |
| rs2153688840 | 542 | Q>E | No | Ensembl | |
| rs2059580187 | 542 | Q>H | No | TOPMed | |
| rs2153688846 | 542 | Q>L | No | Ensembl | |
| rs2153688846 | 542 | Q>R | No | Ensembl | |
|
rs2153688875 COSM731910 |
543 | V>A | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2153688875 | 543 | V>E | No | Ensembl | |
| rs2153688875 | 543 | V>G | No | Ensembl | |
| rs749734339 | 543 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2153688899 | 544 | D>G | No | Ensembl | |
| rs2153688890 | 544 | D>H | No | Ensembl | |
| rs2153688890 | 544 | D>N | No | Ensembl | |
| rs2153688899 | 544 | D>V | No | Ensembl | |
| rs2153688911 | 545 | V>L | No | Ensembl | |
| rs2153688911 | 545 | V>M | No | Ensembl | |
| rs746713054 | 546 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs746713054 | 546 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2153688924 | 546 | A>T | No | Ensembl | |
| rs746713054 | 546 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2153688958 | 547 | S>* | No | Ensembl | |
| rs2153688958 | 547 | S>L | No | Ensembl | |
| rs2153688950 | 547 | S>T | No | Ensembl | |
| rs761620408 | 548 | V>D | No |
ExAC gnomAD |
|
| rs776226965 | 548 | V>F | No |
ExAC gnomAD |
|
| rs761620408 | 548 | V>G | No |
ExAC gnomAD |
|
| rs776226965 | 548 | V>I | No |
ExAC gnomAD |
|
| rs776226965 | 548 | V>L | No |
ExAC gnomAD |
|
| rs576163042 | 549 | L>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs537148509 | 549 | L>P | No |
1000Genomes ExAC gnomAD |
|
| rs537148509 | 549 | L>Q | No |
1000Genomes ExAC gnomAD |
|
| rs576163042 | 549 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2153689023 | 550 | L>* | No | Ensembl | |
| rs2153689027 | 550 | L>F | No | Ensembl | |
| rs2059587477 | 550 | L>M | No | Ensembl | |
| rs1445502811 | 551 | E>* | No | gnomAD | |
| rs2153689044 | 551 | E>D | No | Ensembl | |
| rs2153689039 | 551 | E>V | No | Ensembl | |
| rs2153689055 | 552 | A>E | No | Ensembl | |
| rs2153689055 | 552 | A>G | No | Ensembl | |
| rs2153689047 | 552 | A>P | No | Ensembl | |
| rs2153689047 | 552 | A>T | No | Ensembl | |
| rs2153689055 | 552 | A>V | No | Ensembl | |
| rs2153689067 | 553 | G>A | No | Ensembl | |
| rs2153689067 | 553 | G>E | No | Ensembl | |
| rs2153689061 | 553 | G>R | No | Ensembl | |
| rs2153689085 | 554 | A>E | No | Ensembl | |
| rs2153689085 | 554 | A>G | No | Ensembl | |
| rs2059588557 | 554 | A>P | No | Ensembl | |
| rs2059588557 | 554 | A>T | No | Ensembl | |
| rs2153689085 | 554 | A>V | No | Ensembl | |
| rs766431760 | 555 | A>D | No |
ExAC gnomAD |
|
| rs766431760 | 555 | A>G | No |
ExAC gnomAD |
|
| TCGA novel | 555 | A>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1383161014 | 556 | H>D | No | gnomAD | |
|
TCGA novel rs749342854 |
556 | H>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC TOPMed gnomAD |
| rs1383161014 | 556 | H>N | No | gnomAD | |
| rs749342854 | 556 | H>P | No |
ExAC TOPMed gnomAD |
|
| rs1289363566 | 556 | H>Q | No | gnomAD | |
| rs1383161014 | 556 | H>Y | No | gnomAD | |
|
COSM3599236 COSM3599237 rs759644404 |
557 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs2153689148 | 557 | S>T | No | Ensembl | |
| rs759644404 | 557 | S>Y | No |
ExAC gnomAD |
|
| rs139199018 | 558 | L>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs2153689174 | 558 | L>F | No | Ensembl | |
| rs2153689190 | 559 | A>D | No | Ensembl | |
| rs2153689190 | 559 | A>G | No | Ensembl | |
| rs2153689185 | 559 | A>P | No | Ensembl | |
| rs2153689185 | 559 | A>S | No | Ensembl | |
| rs2153689185 | 559 | A>T | No | Ensembl | |
| rs2153689190 | 559 | A>V | No | Ensembl | |
| rs1317064859 | 560 | T>A | No | gnomAD | |
|
TCGA novel rs2153689211 |
560 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2153689211 | 560 | T>N | No | Ensembl | |
| rs2153689211 | 560 | T>S | No | Ensembl | |
| rs2153689226 | 561 | K>* | No | Ensembl | |
| rs1247730042 | 561 | K>M | No |
TOPMed gnomAD |
|
| rs1247730042 | 561 | K>R | No |
TOPMed gnomAD |
|
| rs2153698297 | 562 | K>M | No | Ensembl | |
| rs2153698302 | 562 | K>N | No | Ensembl | |
| rs2060787972 | 562 | K>Q | No | TOPMed | |
| rs2153698297 | 562 | K>R | No | Ensembl | |
| rs2153698313 | 563 | G>A | No | Ensembl | |
|
TCGA novel rs2153698313 |
563 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2060788609 | 563 | G>R | No | gnomAD | |
| rs2060788609 | 563 | G>S | No | gnomAD | |
| rs1335243990 | 564 | F>L | No | gnomAD | |
| rs2153698323 | 564 | F>L | No | Ensembl | |
| rs2153698323 | 564 | F>V | No | Ensembl | |
| rs2153698326 | 564 | F>Y | No | Ensembl | |
| rs2153698344 | 565 | T>S | No | Ensembl | |
| TCGA novel | 565 | T>Y | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2060790981 | 566 | P>A | No | gnomAD | |
| rs2153698360 | 566 | P>H | No | Ensembl | |
| rs2153698360 | 566 | P>L | No | Ensembl | |
| rs2153698360 | 566 | P>R | No | Ensembl | |
| rs2153698375 | 567 | L>P | No | Ensembl | |
| rs1000271158 | 567 | L>V | No | gnomAD | |
| rs2153698379 | 568 | H>D | No | Ensembl | |
| rs1377067213 | 568 | H>L | No |
TOPMed gnomAD |
|
| rs1377067213 | 568 | H>P | No |
TOPMed gnomAD |
|
| rs2153698379 | 568 | H>Y | No | Ensembl | |
| rs2153698397 | 569 | V>E | No | Ensembl | |
| rs2153698397 | 569 | V>G | No | Ensembl | |
| rs1300426284 | 569 | V>I | No | TOPMed | |
| rs1300426284 | 569 | V>L | No | TOPMed | |
| rs2153698415 | 570 | A>G | No | Ensembl | |
| rs2060794992 | 570 | A>P | No | TOPMed | |
| rs2060794992 | 570 | A>T | No | TOPMed | |
| rs190657605 | 571 | A>D | No | 1000Genomes | |
| rs190657605 | 571 | A>G | No | 1000Genomes | |
| rs1400057725 | 571 | A>P | No | TOPMed | |
| rs1400057725 | 571 | A>T | No | TOPMed | |
| rs190657605 | 571 | A>V | No | 1000Genomes | |
| rs2153698459 | 572 | K>M | No | Ensembl | |
| rs1252426929 | 572 | K>N | No | gnomAD | |
| rs2153698454 | 572 | K>Q | No | Ensembl | |
| rs2060800889 | 573 | Y>* | No | gnomAD | |
| rs750861845 | 573 | Y>D | No |
ExAC TOPMed |
|
| rs2153698478 | 573 | Y>F | No | Ensembl | |
| rs750861845 | 573 | Y>H | No |
ExAC TOPMed |
|
| rs750861845 | 573 | Y>N | No |
ExAC TOPMed |
|
| rs2060802423 | 574 | G>A | No | Ensembl | |
| rs2060802423 | 574 | G>E | No | Ensembl | |
| rs2153698485 | 574 | G>R | No | Ensembl | |
| rs2060802423 | 574 | G>V | No | Ensembl | |
| rs2060803823 | 575 | S>R | No | Ensembl | |
| rs2153698530 | 575 | S>R | No | Ensembl | |
| rs2060804474 | 575 | S>T | No | Ensembl | |
| rs2153698553 | 576 | L>P | No | Ensembl | |
| rs2153698553 | 576 | L>Q | No | Ensembl | |
| rs2153698574 | 577 | D>E | No | Ensembl | |
|
TCGA novel rs1319361708 |
577 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
RCV000519861 CA357910918 rs1319361708 |
577 | D>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs2153698568 | 577 | D>V | No | Ensembl | |
| rs1319361708 | 577 | D>Y | No | gnomAD | |
| rs1180989901 | 578 | V>E | No | gnomAD | |
| rs2153698579 | 578 | V>M | No | Ensembl | |
| rs780664859 | 579 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs780664859 | 579 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs913233502 | 580 | K>* | No | TOPMed | |
| rs913233502 | 580 | K>E | No | TOPMed | |
| rs2153698623 | 580 | K>N | No | Ensembl | |
| rs2153698616 | 580 | K>R | No | Ensembl | |
| rs2153698634 | 581 | L>H | No | Ensembl | |
|
COSM5166748 COSM5166749 |
581 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1173683059 | 581 | L>V | No | gnomAD | |
|
COSM1173014 rs2153698637 |
582 | L>F | oesophagus [Cosmic] | No |
cosmic curated Ensembl |
| rs2153698637 | 582 | L>V | No | Ensembl | |
| rs2060810136 | 583 | L>F | No | TOPMed | |
| rs2153698647 | 583 | L>M | No | Ensembl | |
| rs2153698659 | 584 | Q>* | No | Ensembl | |
| rs2153698659 | 584 | Q>E | No | Ensembl | |
| rs2060810867 | 584 | Q>H | No | Ensembl | |
| rs2153698665 | 584 | Q>L | No | Ensembl | |
| rs2153698665 | 584 | Q>P | No | Ensembl | |
| rs747860838 | 585 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs747860838 | 585 | R>G | No |
ExAC gnomAD |
|
| rs755757246 | 585 | R>H | No |
ExAC gnomAD |
|
| rs755757246 | 585 | R>L | No |
ExAC gnomAD |
|
| rs755757246 | 585 | R>P | No |
ExAC gnomAD |
|
| rs747860838 | 585 | R>S | No |
ExAC gnomAD |
|
| rs777474558 | 586 | R>G | No |
ExAC gnomAD |
|
| rs1375977442 | 586 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1375977442 | 586 | R>L | No | gnomAD | |
| rs1375977442 | 586 | R>P | No | gnomAD | |
| rs777474558 | 586 | R>S | No |
ExAC gnomAD |
|
| rs2153698741 | 587 | A>P | No | Ensembl | |
| rs2153698741 | 587 | A>T | No | Ensembl | |
| rs2153698747 | 587 | A>V | No | Ensembl | |
| rs2153698764 | 588 | A>D | No | Ensembl | |
| rs2153698764 | 588 | A>G | No | Ensembl | |
| rs749143768 | 588 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs749143768 | 588 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs749143768 | 588 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2153698764 | 588 | A>V | No | Ensembl | |
| rs567848811 | 589 | A>E | No |
1000Genomes ExAC gnomAD |
|
| rs567848811 | 589 | A>G | No |
1000Genomes ExAC gnomAD |
|
| rs1288246947 | 589 | A>P | No | gnomAD | |
| rs1288246947 | 589 | A>S | No | gnomAD | |
| rs2153698812 | 590 | D>E | No | Ensembl | |
| rs2153698805 | 590 | D>G | No | Ensembl | |
| rs1261368477 | 590 | D>H | No | gnomAD | |
| rs1261368477 | 590 | D>N | No | gnomAD | |
| rs2153698820 | 591 | S>T | No | Ensembl | |
| rs772347693 | 592 | A>E | No |
ExAC gnomAD |
|
| rs772347693 | 592 | A>G | No |
ExAC gnomAD |
|
| rs2153698830 | 592 | A>P | No | Ensembl | |
| rs2153698830 | 592 | A>T | No | Ensembl | |
| rs772347693 | 592 | A>V | No |
ExAC gnomAD |
|
| rs2153698853 | 593 | G>A | No | Ensembl | |
| rs2153698853 | 593 | G>E | No | Ensembl | |
| rs2153698851 | 593 | G>R | No | Ensembl | |
| rs369089532 | 594 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs2060822385 | 594 | K>M | No | gnomAD | |
| rs2060822385 | 594 | K>R | No | gnomAD | |
| rs1229610513 | 595 | N>K | No | Ensembl | |
| rs2153700659 | 595 | N>T | No | Ensembl | |
| rs2153700683 | 596 | G>A | No | Ensembl | |
| rs377076801 | 596 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs2153700683 | 596 | G>D | No | Ensembl | |
| rs377076801 | 596 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs377076801 | 596 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2153700694 | 597 | L>F | No | Ensembl | |
| rs1187475211 | 597 | L>R | No |
TOPMed gnomAD |
|
| rs940308664 | 598 | T>I | No |
TOPMed gnomAD |
|
| rs762096333 | 598 | T>P | No | Ensembl | |
| rs762096333 | 598 | T>S | No | Ensembl | |
| rs940308664 | 598 | T>S | No |
TOPMed gnomAD |
|
| rs1227348149 | 599 | P>L | No |
TOPMed gnomAD |
|
| rs1227348149 | 599 | P>Q | No |
TOPMed gnomAD |
|
| rs1227348149 | 599 | P>R | No |
TOPMed gnomAD |
|
| rs1379071521 | 599 | P>S | No |
TOPMed gnomAD |
|
| rs2153700739 | 600 | L>F | No | Ensembl | |
| TCGA novel | 600 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2153700739 | 600 | L>V | No | Ensembl | |
| rs2061063570 | 601 | H>L | No | TOPMed | |
| rs2061063570 | 601 | H>R | No | TOPMed | |
| rs2153700749 | 601 | H>Y | No | Ensembl | |
| rs2153700762 | 602 | V>D | No | Ensembl | |
| rs2153700781 | 603 | A>D | No | Ensembl | |
| rs2153700767 | 603 | A>P | No | Ensembl | |
| rs2153700767 | 603 | A>T | No | Ensembl | |
|
COSM3696393 rs2153700781 COSM3696394 |
603 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2153700807 | 604 | A>G | No | Ensembl | |
| rs2153700793 | 604 | A>P | No | Ensembl | |
| rs2153700793 | 604 | A>T | No | Ensembl | |
| rs2153700807 | 604 | A>V | No | Ensembl | |
| rs898855441 | 605 | H>D | No | TOPMed | |
| rs2061066852 | 605 | H>L | No | Ensembl | |
| rs1416016915 | 606 | Y>* | No |
TOPMed gnomAD |
|
| rs2061068350 | 606 | Y>C | No | Ensembl | |
| rs2153700846 | 606 | Y>N | No | Ensembl | |
|
COSM731909 rs2153700883 |
607 | D>G | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2061069828 | 607 | D>H | No | Ensembl | |
| rs2061069828 | 607 | D>N | No | Ensembl | |
| rs2153700883 | 607 | D>V | No | Ensembl | |
| rs778848510 | 608 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs2061072648 | 609 | Q>* | No | Ensembl | |
| rs2061072648 | 609 | Q>E | No | Ensembl | |
| rs2153700922 | 609 | Q>L | No | Ensembl | |
| rs2153700932 | 610 | K>* | No | Ensembl | |
| rs2153700932 | 610 | K>E | No | Ensembl | |
| rs1485895597 | 610 | K>N | No |
TOPMed gnomAD |
|
| COSM1244960 | 610 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1187803134 | 611 | V>L | No | gnomAD | |
| rs1187803134 | 611 | V>M | No | gnomAD | |
| rs2153700978 | 612 | A>G | No | Ensembl | |
| rs1563367580 | 612 | A>P | No | Ensembl | |
| rs1563367580 | 612 | A>S | No | Ensembl | |
| rs1563367580 | 612 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
|
rs2153700978 COSM4121439 COSM4121438 |
612 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2153701006 | 613 | L>P | No | Ensembl | |
| rs2153701006 | 613 | L>Q | No | Ensembl | |
| rs2153701006 | 613 | L>R | No | Ensembl | |
| rs780091077 | 613 | L>V | No |
ExAC gnomAD |
|
| rs2153701028 | 614 | L>M | No | Ensembl | |
| rs2153701043 | 614 | L>P | No | Ensembl | |
| rs2153701043 | 614 | L>Q | No | Ensembl | |
| rs2153701028 | 614 | L>V | No | Ensembl | |
| rs2153701060 | 615 | L>* | No | Ensembl | |
| rs2153701067 | 615 | L>F | No | Ensembl | |
| rs2153701051 | 615 | L>I | No | Ensembl | |
| rs2153701051 | 615 | L>V | No | Ensembl | |
| rs2153701070 | 616 | L>V | No | Ensembl | |
|
TCGA novel rs2153701086 |
617 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| TCGA novel | 617 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2153701099 | 618 | K>N | No | Ensembl | |
| rs2153701103 | 619 | G>R | No | Ensembl | |
| rs2153701103 | 619 | G>S | No | Ensembl | |
| rs747142576 | 619 | G>V | No |
ExAC gnomAD |
|
| rs2153701114 | 620 | A>G | No | Ensembl | |
| rs2153701114 | 620 | A>V | No | Ensembl | |
| rs866185479 | 621 | S>C | No | Ensembl | |
| rs866185479 | 621 | S>F | No | Ensembl | |
| rs866185479 | 621 | S>Y | No | Ensembl | |
| rs1427014957 | 622 | P>H | No | gnomAD | |
| rs2153701154 | 623 | H>D | No | Ensembl | |
| rs2153701160 | 623 | H>L | No | Ensembl | |
| rs761925962 | 623 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs2061084360 | 624 | A>G | No | TOPMed | |
| rs2153701174 | 624 | A>P | No | Ensembl | |
| rs2061084360 | 624 | A>V | No | TOPMed | |
| rs979939287 | 625 | T>N | No |
TOPMed gnomAD |
|
|
COSM370876 rs1349862041 |
625 | T>S | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
|
COSM370876 rs979939287 |
625 | T>S | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs2153701215 | 626 | A>D | No | Ensembl | |
| rs2153701215 | 626 | A>G | No | Ensembl | |
| rs2153701202 | 626 | A>P | No | Ensembl | |
| TCGA novel | 626 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2153701202 | 626 | A>T | No | Ensembl | |
| rs2153701215 | 626 | A>V | No | Ensembl | |
| rs2153701222 | 627 | K>* | No | Ensembl | |
| rs1225395730 | 628 | N>H | No | gnomAD | |
| rs896518686 | 631 | T>I | No |
TOPMed gnomAD |
|
|
COSM3599239 rs1327848108 COSM3599238 |
632 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs2062873406 | 634 | H>R | No | TOPMed | |
|
rs786205723 CA300810 RCV000170680 |
634 | H>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2062874061 | 635 | I>L | No | Ensembl | |
| TCGA novel | 636 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774983230 | 640 | N>H | No |
ExAC gnomAD |
|
| rs2062878431 | 641 | Q>R | No | TOPMed | |
| COSM1327979 | 644 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2062879167 | 644 | I>V | No | TOPMed | |
| rs763702606 | 646 | S>P | No |
ExAC gnomAD |
|
| rs191468663 | 650 | N>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs769850500 | 650 | N>K | No | TOPMed | |
| rs1177283214 | 652 | G>A | No | gnomAD | |
| rs1177283214 | 652 | G>E | No | gnomAD | |
| rs1378731496 | 653 | A>T | No | TOPMed | |
| rs761358506 | 655 | T>A | No |
ExAC gnomAD |
|
| rs761358506 | 655 | T>P | No |
ExAC gnomAD |
|
| rs982990660 | 657 | I>F | No | TOPMed | |
| rs2062890482 | 657 | I>T | No | Ensembl | |
| rs982990660 | 657 | I>V | No | TOPMed | |
| rs1468441295 | 658 | V>M | No | gnomAD | |
| rs1333180918 | 659 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1333180918 | 659 | T>R | No | gnomAD | |
| rs750029439 | 664 | T>I | No |
ExAC gnomAD |
|
|
COSM1485615 rs2153713718 COSM5230435 |
664 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs758281393 | 665 | P>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 666 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1284675498 | 668 | L>M | No |
TOPMed gnomAD |
|
| rs754837027 | 668 | L>P | No |
ExAC gnomAD |
|
| rs2062903941 | 675 | T>I | No | Ensembl | |
| TCGA novel | 677 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1043594262 | 677 | M>V | No |
TOPMed gnomAD |
|
| rs777987911 | 679 | T>N | No |
ExAC gnomAD |
|
| TCGA novel | 682 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4121440 COSM4121441 |
684 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| VAR_035606 | 685 | G>E | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
| rs1299613801 | 686 | A>T | No | TOPMed | |
| rs774552133 | 688 | I>V | No |
ExAC gnomAD |
|
| rs772480764 | 689 | H>Q | No |
ExAC gnomAD |
|
| rs1397539289 | 689 | H>Y | No | gnomAD | |
| rs143336535 | 690 | M>V | No |
ESP gnomAD |
|
| rs752702820 | 698 | S>Y | No |
ExAC gnomAD |
|
| rs2065347477 | 699 | L>F | No | TOPMed | |
|
COSM6099121 COSM6099122 |
700 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM117231 | 702 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs998176656 | 704 | Q>H | No | gnomAD | |
| rs1457357554 | 705 | E>D | No | gnomAD | |
|
COSM3599240 COSM3599241 |
705 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM271005 rs753937708 |
706 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed |
| rs1007445049 | 709 | N>T | No | Ensembl | |
| rs750601418 | 712 | D>G | No |
ExAC gnomAD |
|
| rs2065362793 | 713 | I>N | No | Ensembl | |
|
COSM364635 rs2065364828 |
714 | L>I | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs199681788 | 715 | T>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs781744618 | 717 | H>P | No |
ExAC gnomAD |
|
| rs769262938 | 717 | H>Y | No |
ExAC gnomAD |
|
| rs1244709617 | 719 | A>D | No | gnomAD | |
| rs2065374536 | 721 | Q>H | No | TOPMed | |
| rs770403560 | 722 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1281859197 | 722 | D>N | No | TOPMed | |
| rs1281859197 | 722 | D>Y | No | TOPMed | |
| rs1206959151 | 723 | A>T | No | gnomAD | |
| TCGA novel | 726 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM6099120 COSM6099119 |
728 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1429390466 | 730 | T>A | No | gnomAD | |
| rs1280416597 | 730 | T>I | No | TOPMed | |
| rs942680150 | 731 | P>A | No |
TOPMed gnomAD |
|
|
rs942680150 RCV000845497 |
731 | P>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1409882484 | 732 | L>S | No | gnomAD | |
| rs2065836201 | 738 | Y>C | No | Ensembl | |
| rs2065840969 | 744 | V>A | No |
TOPMed gnomAD |
|
|
rs786205263 CA236526 RCV000171592 |
745 | N>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs760469731 | 746 | F>C | No |
ExAC gnomAD |
|
| rs2065843825 | 746 | F>L | No | Ensembl | |
| COSM1050218 | 752 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776609482 | 753 | N>S | No |
ExAC gnomAD |
|
| rs1221060009 | 755 | N>I | No | gnomAD | |
|
COSM731908 COSM4391429 |
758 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1587402715 | 760 | N>D | No | TOPMed | |
| rs774769455 | 761 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs200990814 | 762 | Y>* | No |
ExAC gnomAD |
|
| rs759804725 | 762 | Y>F | No |
ExAC gnomAD |
|
| rs1279672563 | 763 | T>M | No | TOPMed | |
| rs2068225809 | 764 | P>S | No | gnomAD | |
| rs1407585494 | 769 | A>S | No |
TOPMed gnomAD |
|
| rs1407585494 | 769 | A>T | No |
TOPMed gnomAD |
|
| rs756398380 | 770 | Q>H | No |
ExAC gnomAD |
|
| TCGA novel | 772 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2068235636 | 773 | H>Q | No | Ensembl | |
| rs1468144409 | 773 | H>R | No |
TOPMed gnomAD |
|
| rs1454428739 | 774 | T>M | No |
TOPMed gnomAD |
|
| rs1363338483 | 775 | H>D | No |
TOPMed gnomAD |
|
| rs1315499422 | 777 | I>M | No | gnomAD | |
|
COSM3781907 COSM3781908 rs2153744101 |
779 | V>I | pancreas [Cosmic] | No |
cosmic curated Ensembl |
| rs1210098315 | 783 | H>Y | No | gnomAD | |
| rs375016313 | 784 | G>E | No |
ESP TOPMed |
|
| TCGA novel | 785 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780659727 | 785 | A>T | No |
ExAC gnomAD |
|
| rs1238418730 | 789 | A>P | No |
TOPMed gnomAD |
|
| rs1238418730 | 789 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs749222485 | 792 | A>E | No |
ExAC gnomAD |
|
|
COSM4168558 COSM4168559 |
792 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2069006898 | 793 | N>D | No | gnomAD | |
|
CA3050563 rs776957456 RCV000589925 |
799 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM1732898 COSM3767652 rs2069018340 |
803 | R>H | liver pancreas [Cosmic] | No |
cosmic curated Ensembl |
| rs1435314961 | 803 | R>S | No | gnomAD | |
| rs1241426945 | 805 | G>V | No | Ensembl | |
| rs2153746955 | 806 | Y>F | No | Ensembl | |
| rs750861987 | 809 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs752459247 | 811 | D>H | No |
ExAC gnomAD |
|
| rs752459247 | 811 | D>N | No |
ExAC gnomAD |
|
| rs954514363 | 812 | T>I | No |
TOPMed gnomAD |
|
| rs777436992 | 813 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1396611769 | 815 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
RCV000170652 rs753719949 CA300702 |
815 | V>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| rs2069042443 | 816 | V>M | No | TOPMed | |
| rs2153747059 | 818 | E>D | No | 1000Genomes | |
| rs1410953130 | 819 | E>K | No |
TOPMed gnomAD |
|
| rs1275848513 | 819 | E>V | No |
TOPMed gnomAD |
|
| rs1286149273 | 820 | V>D | No | Ensembl | |
| rs1248936595 | 821 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs910792898 | 822 | T>A | No | Ensembl | |
| rs1164421295 | 824 | T>S | No | gnomAD | |
| rs2069065022 | 825 | T>A | No | TOPMed | |
| rs780181849 | 828 | T>K | No |
ExAC gnomAD |
|
| rs2075600582 | 830 | K>N | No | TOPMed | |
|
RCV002223450 rs1231705889 |
831 | H>R | No |
ClinVar dbSNP gnomAD |
|
| rs1397024326 | 834 | N>K | No | gnomAD | |
| rs1253089112 | 834 | N>S | No | gnomAD | |
| TCGA novel | 834 | N>Y | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3824994 rs779991081 COSM1633418 |
838 | T>M | liver Variant assessed as Somatic; MODERATE impact. breast [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM3916994 COSM3916993 |
841 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs755018814 | 842 | V>A | No |
ExAC gnomAD |
|
| rs1195147290 | 847 | D>E | No | gnomAD | |
| rs2075612039 | 848 | E>D | No |
TOPMed gnomAD |
|
|
COSM4121444 COSM324704 |
849 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs561997809 | 851 | D>Y | No |
1000Genomes ExAC gnomAD |
|
| rs781241738 | 852 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1385688410 | 852 | D>V | No |
TOPMed gnomAD |
|
| rs1178600130 | 853 | T>A | No |
TOPMed gnomAD |
|
| rs748407394 | 853 | T>K | No |
ExAC gnomAD |
|
| rs2079818813 | 855 | T>A | No | TOPMed | |
| rs1290528750 | 856 | G>S | No |
TOPMed gnomAD |
|
| rs2079821759 | 857 | D>V | No | TOPMed | |
|
rs2079824761 RCV002224703 |
859 | G>* | No |
ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 859 | G>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2079825759 | 859 | G>E | No |
TOPMed gnomAD |
|
|
rs2079824761 TCGA novel |
859 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1400444798 | 863 | R>K | No | TOPMed | |
| rs1359675325 | 864 | P>L | No |
TOPMed gnomAD |
|
| rs1408022265 | 864 | P>S | No | gnomAD | |
| rs779350791 | 865 | E>D | No |
ExAC gnomAD |
|
| rs746381681 | 866 | D>Y | No |
ExAC gnomAD |
|
| rs1436846251 | 868 | K>R | No |
TOPMed gnomAD |
|
| TCGA novel | 871 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 873 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs370885779 | 879 | Q>R | No |
ESP ExAC gnomAD |
|
| rs966479952 | 880 | F>L | No | gnomAD | |
| rs267599986 | 882 | D>N | No | Ensembl | |
| rs991020359 | 883 | G>S | No | TOPMed | |
| rs2153819561 | 883 | G>V | No | Ensembl | |
|
COSM3993401 COSM3993400 |
885 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001813860 rs867072234 COSM480770 |
888 | R>* | Variant assessed as Somatic; HIGH impact. kidney [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs772853667 | 888 | R>L | No |
ExAC TOPMed gnomAD |
|
|
rs772853667 COSM256300 |
888 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs2079857474 | 890 | S>N | No | TOPMed | |
|
COSM3824995 COSM3824996 |
892 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs550681475 | 893 | G>A | No |
1000Genomes ExAC gnomAD |
|
| rs1392505362 | 894 | G>E | No | gnomAD | |
| rs2079862618 | 895 | R>* | No | Ensembl | |
| rs751513548 | 895 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1563653033 | 896 | S>Y | No | Ensembl | |
| rs2083658921 | 898 | S>R | No | TOPMed | |
|
COSM256301 COSM3428063 rs1162799877 |
900 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1162799877 | 900 | R>G | No | gnomAD | |
| rs762658824 | 900 | R>L | No |
ExAC gnomAD |
|
| rs762658824 | 900 | R>P | No |
ExAC gnomAD |
|
| rs762658824 | 900 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
RCV000444715 rs1057522778 CA16605023 |
901 | S>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs2153836333 | 901 | S>C | No | Ensembl | |
| rs2153836333 | 901 | S>F | No | Ensembl | |
|
RCV000489875 rs1057522778 CA357930386 |
901 | S>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs2153836339 | 902 | F>L | No | Ensembl | |
| rs2153836336 | 902 | F>L | No | Ensembl | |
| rs2153836343 | 903 | S>C | No | Ensembl | |
| rs2153836346 | 903 | S>N | No | Ensembl | |
| rs2153836346 | 903 | S>T | No | Ensembl | |
| rs2153836356 | 905 | D>A | No | Ensembl | |
| rs2153836362 | 905 | D>E | No | Ensembl | |
| rs2153836356 | 905 | D>G | No | Ensembl | |
| rs759275920 | 905 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs2153836356 | 905 | D>V | No | Ensembl | |
| rs759275920 | 905 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2153836364 | 906 | R>G | No | Ensembl | |
| rs2153836367 | 906 | R>M | No | Ensembl | |
| rs2083669389 | 906 | R>S | No | Ensembl | |
| rs2083670523 | 907 | S>A | No | TOPMed | |
| rs2153836374 | 907 | S>C | No | Ensembl | |
| rs2153836374 | 907 | S>F | No | Ensembl | |
| rs2083670523 | 907 | S>T | No | TOPMed | |
| rs2153836374 | 907 | S>Y | No | Ensembl | |
| rs2083672191 | 908 | H>D | No | Ensembl | |
| rs1386171372 | 908 | H>L | No | gnomAD | |
| rs576844483 | 908 | H>Q | No |
1000Genomes ExAC gnomAD |
|
| rs2083672191 | 908 | H>Y | No | Ensembl | |
| rs2083676116 | 909 | T>A | No | gnomAD | |
| rs2153836389 | 910 | L>M | No | Ensembl | |
| rs2153836395 | 910 | L>P | No | Ensembl | |
|
COSM447257 COSM5193743 rs2153836389 |
910 | L>V | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2153836399 | 911 | S>C | No | Ensembl | |
| rs2153836399 | 911 | S>G | No | Ensembl | |
| rs528968659 | 911 | S>N | No | TOPMed | |
| rs2153836405 | 911 | S>R | No | Ensembl | |
| rs757479095 | 912 | H>D | No |
ExAC gnomAD |
|
| rs139259028 | 912 | H>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs139259028 | 912 | H>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs941957205 | 912 | H>Q | No | Ensembl | |
| rs2153836423 | 913 | A>G | No | Ensembl | |
| rs1329321003 | 913 | A>P | No | gnomAD | |
| rs1329321003 | 913 | A>S | No | gnomAD | |
| rs1329321003 | 913 | A>T | No | gnomAD | |
| rs2153836423 | 913 | A>V | No | Ensembl | |
| rs1265907937 | 914 | S>C | No | gnomAD | |
| rs1265907937 | 914 | S>F | No | gnomAD | |
| rs2083687234 | 914 | S>P | No | TOPMed | |
| rs2083687234 | 914 | S>T | No | TOPMed | |
| rs1265907937 | 914 | S>Y | No | gnomAD | |
| rs1193376737 | 915 | Y>* | No |
TOPMed gnomAD |
|
| rs2153836433 | 915 | Y>F | No | Ensembl | |
| rs2153836432 | 915 | Y>N | No | Ensembl | |
| rs2153836433 | 915 | Y>S | No | Ensembl | |
| rs2153836436 | 916 | L>M | No | Ensembl | |
| rs2153836438 | 916 | L>P | No | Ensembl | |
| rs2153836438 | 916 | L>Q | No | Ensembl | |
| rs2153836436 | 916 | L>V | No | Ensembl | |
| rs2153836443 | 917 | R>K | No | Ensembl | |
|
COSM6099118 COSM6099117 COSM585396 rs897732443 |
917 | R>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
| rs758767562 | 917 | R>W | No | ExAC | |
| rs1445606491 | 918 | D>E | No | gnomAD | |
| rs2153836449 | 918 | D>H | No | Ensembl | |
| rs2153836449 | 918 | D>Y | No | Ensembl | |
| rs928589458 | 919 | S>N | No | TOPMed | |
| rs780718700 | 919 | S>R | No |
ExAC gnomAD |
|
| rs2153836467 | 920 | A>D | No | Ensembl | |
| rs2153836467 | 920 | A>G | No | Ensembl | |
| rs747505016 | 920 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs747505016 | 920 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2153836467 | 920 | A>V | No | Ensembl | |
| rs2153836472 | 921 | V>E | No | Ensembl | |
| rs777302517 | 921 | V>L | No |
ExAC TOPMed gnomAD |
|
|
rs748939338 RCV000522471 CA357930748 RCV000618869 |
922 | M>I | No |
ExAC gnomAD ClinGen ClinVar dbSNP |
|
| rs2153836478 | 922 | M>L | No | Ensembl | |
| rs2153836479 | 922 | M>R | No | Ensembl | |
| rs2153836478 | 922 | M>V | No | Ensembl | |
| rs2153836492 | 923 | D>E | No | Ensembl | |
| rs2153836486 | 923 | D>H | No | Ensembl | |
| rs2153836486 | 923 | D>N | No | Ensembl | |
| rs2153836486 | 923 | D>Y | No | Ensembl | |
| rs773833730 | 924 | D>E | No |
ExAC gnomAD |
|
| rs770636500 | 924 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs770636500 | 924 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs2153836501 | 924 | D>V | No | Ensembl | |
| rs770636500 | 924 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1358076660 | 925 | S>* | No | Ensembl | |
| rs1358076660 | 925 | S>L | No | Ensembl | |
| rs2153836507 | 925 | S>P | No | Ensembl | |
| rs2153836507 | 925 | S>T | No | Ensembl | |
| rs2083711083 | 926 | V>A | No | Ensembl | |
| rs2083711083 | 926 | V>D | No | Ensembl | |
| rs2153836517 | 926 | V>F | No | Ensembl | |
| rs2153836517 | 926 | V>L | No | Ensembl | |
| TCGA novel | 927 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2153836529 | 927 | V>E | No | Ensembl | |
| rs2153836527 | 927 | V>M | No | Ensembl | |
| rs2153836532 | 928 | I>F | No | Ensembl | |
| rs2083713459 | 928 | I>T | No | Ensembl | |
| rs771843739 | 929 | P>A | No |
ExAC gnomAD |
|
| rs2153836542 | 929 | P>H | No | Ensembl | |
| rs2153836542 | 929 | P>L | No | Ensembl | |
| rs2153836542 | 929 | P>R | No | Ensembl | |
| rs771843739 | 929 | P>S | No |
ExAC gnomAD |
|
| rs1033764497 | 930 | S>I | No | Ensembl | |
| rs2153836550 | 930 | S>R | No | Ensembl | |
| rs1033764497 | 930 | S>T | No | Ensembl | |
| rs2153836552 | 931 | H>N | No | Ensembl | |
| rs2153836554 | 931 | H>Q | No | Ensembl | |
| rs2153836557 | 932 | Q>E | No | Ensembl | |
| rs2153836557 | 932 | Q>K | No | Ensembl | |
| rs1442962015 | 932 | Q>L | No |
TOPMed gnomAD |
|
| rs1442962015 | 932 | Q>R | No |
TOPMed gnomAD |
|
| rs753401345 | 933 | V>E | No | Ensembl | |
|
RCV002433734 RCV000170731 rs786205733 CA301031 |
936 | L>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs2084170115 | 937 | A>T | No | Ensembl | |
| rs1334740126 | 939 | E>G | No | gnomAD | |
|
rs772661712 CA300840 RCV000170686 |
942 | R>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs775244130 | 944 | S>A | No |
ExAC gnomAD |
|
|
COSM5089078 COSM1426441 |
944 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2084182350 | 945 | Y>D | No | Ensembl | |
| rs768671380 | 946 | R>L | No |
ExAC TOPMed gnomAD |
|
|
RCV000170733 CA301041 rs786205734 |
947 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs971456056 | 948 | S>I | No |
TOPMed gnomAD |
|
| rs971456056 | 948 | S>N | No |
TOPMed gnomAD |
|
| rs1248713248 | 951 | T>A | No | gnomAD | |
| TCGA novel | 951 | T>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751992005 | 952 | E>D | No |
ExAC gnomAD |
|
| rs766895872 | 952 | E>G | No |
ExAC gnomAD |
|
| rs777929078 | 952 | E>K | No | Ensembl | |
| rs1166158535 | 953 | N>D | No | gnomAD | |
|
CA300850 rs755255053 RCV000170688 |
953 | N>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1166158535 | 953 | N>Y | No | gnomAD | |
| rs768070511 | 955 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs2084210504 | 956 | N>D | No | Ensembl | |
| rs573354722 | 957 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2084218610 | 958 | A>G | No | Ensembl | |
| rs2084217234 | 958 | A>T | No | TOPMed | |
| rs2084219908 | 959 | L>H | No | Ensembl | |
| rs1303151149 | 960 | S>F | No | gnomAD | |
| rs1475854507 | 960 | S>P | No |
TOPMed gnomAD |
|
| rs1231237616 | 962 | S>T | No | gnomAD | |
| rs1281697227 | 967 | G>A | No | TOPMed | |
| COSM731907 | 967 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2092022601 | 968 | F>L | No | Ensembl | |
|
RCV000171594 CA236531 rs786205421 |
968 | F>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2153922186 | 969 | L>V | No | Ensembl | |
| rs2153922319 | 970 | V>F | No | Ensembl | |
| rs2153922319 | 970 | V>I | No | Ensembl | |
| rs2153922319 | 970 | V>L | No | Ensembl | |
| rs1236255807 | 971 | S>C | No | gnomAD | |
| rs1018570528 | 971 | S>N | No | TOPMed | |
| rs2153922443 | 972 | F>L | No | Ensembl | |
| rs2153922418 | 972 | F>S | No | Ensembl | |
| rs2153922510 | 973 | M>I | No | Ensembl | |
| rs965893148 | 973 | M>L | No |
TOPMed gnomAD |
|
| rs965893148 | 973 | M>V | No |
TOPMed gnomAD |
|
| rs775719326 | 974 | V>L | No |
ExAC gnomAD |
|
| rs775719326 | 974 | V>M | No |
ExAC gnomAD |
|
| rs2153922683 | 975 | D>E | No | Ensembl | |
| rs2153922653 | 975 | D>G | No | Ensembl | |
| rs2153922602 | 975 | D>H | No | Ensembl | |
| rs2153922602 | 975 | D>N | No | Ensembl | |
| rs2153922653 | 975 | D>V | No | Ensembl | |
| rs2153922602 | 975 | D>Y | No | Ensembl | |
| rs1588354237 | 976 | A>D | No | Ensembl | |
| rs1588354237 | 976 | A>G | No | Ensembl | |
| rs977347770 | 976 | A>S | No |
TOPMed gnomAD |
|
| rs1588354237 | 976 | A>V | No | Ensembl | |
|
rs2153922801 COSM1426443 COSM5167401 |
977 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2153922801 | 977 | R>G | No | Ensembl | |
| rs747390978 | 977 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs2153922908 | 978 | G>A | No | Ensembl | |
| rs2153922876 | 978 | G>R | No | Ensembl | |
|
COSM731906 rs2153922876 |
978 | G>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2153922980 | 979 | G>A | No | Ensembl | |
| rs2153922939 | 979 | G>R | No | Ensembl | |
| rs2153922939 | 979 | G>S | No | Ensembl | |
| rs2153922980 | 979 | G>V | No | Ensembl | |
| rs2153923053 | 980 | A>G | No | Ensembl | |
| rs775277756 | 980 | A>P | No | TOPMed | |
| rs775277756 | 980 | A>T | No | TOPMed | |
| rs777186623 | 981 | M>I | No |
ExAC gnomAD |
|
| rs2153923095 | 981 | M>K | No | Ensembl | |
| rs2153923080 | 981 | M>L | No | Ensembl | |
| rs2153923095 | 981 | M>R | No | Ensembl | |
|
RCV003160150 rs1588354762 RCV000998267 COSM149726 |
982 | R>* | stomach [Cosmic] | No |
cosmic curated ClinVar Ensembl dbSNP |
| rs1588354762 | 982 | R>G | No | Ensembl | |
| rs769214999 | 982 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs867219492 | 983 | G>A | No | Ensembl | |
| rs867219492 | 983 | G>E | No | Ensembl | |
| rs957255788 | 983 | G>R | No |
TOPMed gnomAD |
|
| rs2153923286 | 984 | C>G | No | Ensembl | |
| rs1267665348 | 984 | C>S | No | gnomAD | |
| rs2092037558 | 984 | C>W | No | Ensembl | |
| rs1267665348 | 984 | C>Y | No | gnomAD | |
| rs2153923358 | 985 | R>* | No | Ensembl | |
| rs2153923358 | 985 | R>G | No | Ensembl | |
| rs1434084734 | 985 | R>K | No | gnomAD | |
| rs2153923412 | 985 | R>S | No | Ensembl | |
| rs1434084734 | 985 | R>T | No | gnomAD | |
| rs2153923427 | 986 | H>D | No | Ensembl | |
| rs2153923451 | 986 | H>L | No | Ensembl | |
| rs2153923451 | 986 | H>P | No | Ensembl | |
| rs2153923485 | 986 | H>Q | No | Ensembl | |
| rs2153923427 | 986 | H>Y | No | Ensembl | |
| rs760211451 | 987 | N>I | No | Ensembl | |
| rs376328020 | 987 | N>K | No |
ESP TOPMed gnomAD |
|
| rs760211451 | 987 | N>S | No | Ensembl | |
| rs760211451 | 987 | N>T | No | Ensembl | |
| rs2153923513 | 987 | N>Y | No | Ensembl | |
| rs2092041125 | 988 | G>A | No | gnomAD | |
| rs2092041125 | 988 | G>E | No | gnomAD | |
| rs2153923599 | 988 | G>R | No | Ensembl | |
| rs2092041125 | 988 | G>V | No | gnomAD | |
| rs2153923599 | 988 | G>W | No | Ensembl | |
| rs1393750553 | 989 | L>F | No |
TOPMed gnomAD |
|
| rs1454229259 | 989 | L>H | No | gnomAD | |
| rs1393750553 | 989 | L>I | No |
TOPMed gnomAD |
|
| rs1454229259 | 989 | L>P | No | gnomAD | |
| rs1393750553 | 989 | L>V | No |
TOPMed gnomAD |
|
|
COSM3409006 COSM3409005 rs1554508985 |
990 | R>G | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs373261456 | 990 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs2153923899 | 991 | I>F | No | Ensembl | |
| rs2153923944 | 991 | I>M | No | Ensembl | |
| rs2153923919 | 991 | I>N | No | Ensembl | |
| rs2153923919 | 991 | I>S | No | Ensembl | |
| rs767080889 | 992 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs2153923993 | 993 | I>F | No | Ensembl | |
| rs2153923993 | 993 | I>L | No | Ensembl | |
| rs2153924010 | 993 | I>N | No | Ensembl | |
| rs2153924010 | 993 | I>T | No | Ensembl | |
| rs928622061 | 994 | P>A | No |
TOPMed gnomAD |
|
| rs2153924087 | 994 | P>L | No | Ensembl | |
| rs2153924087 | 994 | P>Q | No | Ensembl | |
| rs2153924087 | 994 | P>R | No | Ensembl | |
| rs928622061 | 994 | P>S | No |
TOPMed gnomAD |
|
| rs2153924155 | 995 | P>A | No | Ensembl | |
| rs2153924182 | 995 | P>H | No | Ensembl | |
| rs2153924182 | 995 | P>R | No | Ensembl | |
| rs2153924155 | 995 | P>S | No | Ensembl | |
| rs2153924155 | 995 | P>T | No | Ensembl | |
| rs1393086626 | 996 | R>G | No |
TOPMed gnomAD |
|
|
RCV001774840 COSM4661572 COSM1131295 rs1393086626 |
996 | R>W | Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs2153924268 | 997 | K>I | No | Ensembl | |
| rs77582626 | 997 | K>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs2153924268 TCGA novel |
997 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2153924328 | 998 | C>* | No | Ensembl | |
| rs2092053203 | 998 | C>S | No | Ensembl | |
| rs2153924314 | 998 | C>S | No | Ensembl | |
| rs2153924328 | 998 | C>W | No | Ensembl | |
| rs1300987037 | 999 | T>I | No |
TOPMed gnomAD |
|
| rs2153924345 | 999 | T>P | No | Ensembl | |
| rs1300987037 | 999 | T>S | No |
TOPMed gnomAD |
|
| rs2153924345 | 999 | T>S | No | Ensembl | |
| rs2153924411 | 1000 | A>D | No | Ensembl | |
| rs2153924411 | 1000 | A>G | No | Ensembl | |
| rs2153924391 | 1000 | A>P | No | Ensembl | |
| rs2153924391 | 1000 | A>T | No | Ensembl | |
| rs2153924411 | 1000 | A>V | No | Ensembl | |
| rs2153924446 | 1001 | P>A | No | Ensembl | |
| rs2153924465 | 1001 | P>L | No | Ensembl | |
|
TCGA novel rs2153924465 |
1001 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2153924446 | 1001 | P>S | No | Ensembl | |
| rs575960435 | 1002 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs575960435 | 1002 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2153924480 | 1002 | T>S | No | Ensembl | |
| rs2092056882 | 1003 | R>* | No | Ensembl | |
| rs2092056882 | 1003 | R>G | No | Ensembl | |
| rs1297699007 | 1003 | R>P | No | gnomAD | |
| rs1297699007 | 1003 | R>Q | No | gnomAD | |
| rs2153924609 | 1004 | V>A | No | Ensembl | |
| rs2153924609 | 1004 | V>D | No | Ensembl | |
| rs2153924609 | 1004 | V>G | No | Ensembl | |
| rs2153924592 | 1004 | V>L | No | Ensembl | |
| rs1588356431 | 1005 | T>A | No | Ensembl | |
| rs2153924669 | 1005 | T>N | No | Ensembl | |
| rs1588356431 | 1005 | T>P | No | Ensembl | |
| rs2153924669 | 1005 | T>S | No | Ensembl | |
| rs1588356431 | 1005 | T>S | No | Ensembl | |
| rs2153924740 | 1006 | C>* | No | Ensembl | |
| rs2153924716 | 1006 | C>S | No | Ensembl | |
| rs2153924726 | 1006 | C>Y | No | Ensembl | |
| rs2092061253 | 1007 | R>G | No | Ensembl | |
| rs1554509161 | 1007 | R>L | No | Ensembl | |
| rs1554509161 | 1007 | R>P | No | Ensembl | |
|
rs1554509161 RCV000618107 CA357935142 |
1007 | R>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs745943720 | 1008 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs745943720 | 1008 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs2153924879 | 1009 | V>A | No | Ensembl | |
| rs2153924879 | 1009 | V>D | No | Ensembl | |
| rs2153924879 | 1009 | V>G | No | Ensembl | |
| rs2153924864 | 1009 | V>I | No | Ensembl | |
| rs2153924864 | 1009 | V>L | No | Ensembl | |
|
TCGA novel rs2153924946 |
1010 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2153924968 | 1010 | K>N | No | Ensembl | |
| rs2153924946 | 1010 | K>R | No | Ensembl | |
| rs2153924946 | 1010 | K>T | No | Ensembl | |
| rs1226180418 | 1011 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1226180418 | 1011 | R>G | No |
TOPMed gnomAD |
|
|
COSM4121445 rs1563808779 COSM1485616 |
1011 | R>H | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs1563808779 | 1011 | R>P | No | TOPMed | |
|
RCV001755272 rs1226180418 |
1011 | R>S | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2153925029 | 1012 | H>D | No | Ensembl | |
| rs113488555 | 1012 | H>L | No | Ensembl | |
| rs113488555 | 1012 | H>P | No | Ensembl | |
| rs1037322656 | 1012 | H>Q | No |
TOPMed gnomAD |
|
| rs113488555 | 1012 | H>R | No | Ensembl | |
| rs2153925029 | 1012 | H>Y | No | Ensembl | |
| COSM731905 | 1013 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1215875862 | 1013 | R>G | No |
TOPMed gnomAD |
|
|
rs2153925123 COSM1050220 |
1013 | R>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2153925143 | 1013 | R>S | No | Ensembl | |
| rs2153925123 | 1013 | R>T | No | Ensembl | |
| rs2153925157 | 1014 | L>V | No | Ensembl | |
| rs2153925222 | 1015 | A>G | No | Ensembl | |
| rs2153925199 | 1015 | A>P | No | Ensembl | |
| rs2153925199 | 1015 | A>T | No | Ensembl | |
| rs2153925222 | 1015 | A>V | No | Ensembl | |
| rs2153925265 | 1016 | T>A | No | Ensembl | |
| rs2153925288 | 1016 | T>I | No | Ensembl | |
| rs2153925265 | 1016 | T>P | No | Ensembl | |
| rs2153925288 | 1016 | T>R | No | Ensembl | |
| rs2153925265 | 1016 | T>S | No | Ensembl | |
| rs2153925358 | 1017 | M>I | No | Ensembl | |
| rs2153925346 | 1017 | M>K | No | Ensembl | |
| rs2153925334 | 1017 | M>L | No | Ensembl | |
| rs2153925374 | 1018 | P>A | No | Ensembl | |
| rs2153925396 | 1018 | P>L | No | Ensembl | |
| rs2153925374 | 1018 | P>S | No | Ensembl | |
| rs2153925374 | 1018 | P>T | No | Ensembl | |
| rs2153925429 | 1019 | P>A | No | Ensembl | |
| rs2153925449 | 1019 | P>L | No | Ensembl | |
| rs2153925449 | 1019 | P>Q | No | Ensembl | |
| rs2153925449 | 1019 | P>R | No | Ensembl | |
| rs2153925429 | 1019 | P>S | No | Ensembl | |
| rs2153925429 | 1019 | P>T | No | Ensembl | |
| rs2092076177 | 1020 | M>I | No | TOPMed | |
| rs2092075307 | 1020 | M>K | No |
TOPMed gnomAD |
|
| rs2092075307 | 1020 | M>T | No |
TOPMed gnomAD |
|
| rs747229863 | 1020 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs2153925547 | 1021 | V>L | No | Ensembl | |
| rs2153925547 | 1021 | V>M | No | Ensembl | |
| rs2153925564 | 1022 | E>* | No | Ensembl | |
| rs2153925599 | 1022 | E>D | No | Ensembl | |
| rs2153925587 | 1022 | E>G | No | Ensembl | |
|
COSM3775488 rs2153925564 COSM3775489 |
1022 | E>K | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2153925564 | 1022 | E>Q | No | Ensembl | |
| rs1563809304 | 1023 | G>A | No | Ensembl | |
| TCGA novel | 1023 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2153925665 | 1024 | E>D | No | Ensembl | |
| rs2092078851 | 1024 | E>G | No | TOPMed | |
| rs2092078851 | 1024 | E>V | No | TOPMed | |
| rs773532854 | 1025 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs2153925682 | 1025 | G>R | No | Ensembl | |
|
COSM3660844 COSM3660845 rs2153925682 |
1025 | G>S | liver [Cosmic] | No |
cosmic curated Ensembl |
| rs2153925728 | 1026 | L>V | No | Ensembl | |
| rs2153925759 | 1027 | A>G | No | Ensembl | |
| rs2092081823 | 1027 | A>S | No | TOPMed | |
| rs2153925759 | 1027 | A>V | No | Ensembl | |
| rs786205726 | 1028 | S>C | No |
TOPMed gnomAD |
|
| rs2153925814 | 1028 | S>N | No | Ensembl | |
| rs2153925814 | 1028 | S>T | No | Ensembl | |
| rs758980553 | 1029 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs758980553 | 1029 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs2153925875 | 1030 | L>M | No | Ensembl | |
| rs2153925885 | 1030 | L>P | No | Ensembl | |
| rs2153925885 | 1030 | L>Q | No | Ensembl | |
| rs914461851 | 1032 | E>D | No |
TOPMed gnomAD |
|
|
COSM3409007 rs775323997 COSM2157363 |
1032 | E>K | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs141095954 | 1033 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs141095954 | 1033 | V>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs141095954 | 1033 | V>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs2092088890 | 1033 | V>L | No | TOPMed | |
| rs2153925994 | 1034 | G>* | No | Ensembl | |
| rs2153926010 | 1034 | G>A | No | Ensembl | |
| rs2153926010 | 1034 | G>E | No | Ensembl | |
| rs2153925994 | 1034 | G>R | No | Ensembl | |
| rs2153926010 | 1034 | G>V | No | Ensembl | |
| rs945904424 | 1035 | P>A | No | Ensembl | |
| rs945904424 | 1035 | P>S | No | Ensembl | |
| rs2153926090 | 1036 | S>C | No | Ensembl | |
| rs2153926090 | 1036 | S>F | No | Ensembl | |
| rs2153926131 | 1037 | G>A | No | Ensembl | |
| rs531878918 | 1037 | G>R | No | Ensembl | |
| rs531878918 | 1037 | G>S | No | Ensembl | |
|
COSM6047276 COSM6047275 rs2153926167 |
1038 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2153926167 | 1038 | A>G | No | Ensembl | |
| rs2153926153 | 1038 | A>P | No | Ensembl | |
| rs2153926153 | 1038 | A>T | No | Ensembl | |
| rs2153926167 | 1038 | A>V | No | Ensembl | |
| rs2153926200 | 1039 | Q>E | No | Ensembl | |
| rs2092094030 | 1039 | Q>H | No |
TOPMed gnomAD |
|
| rs2153926200 | 1039 | Q>K | No | Ensembl | |
| rs2153926216 | 1039 | Q>L | No | Ensembl | |
| rs1359811400 | 1040 | F>I | No | gnomAD | |
| rs1359811400 | 1040 | F>L | No | gnomAD | |
| rs2153926266 | 1041 | L>I | No | Ensembl | |
| rs2153926266 | 1041 | L>V | No | Ensembl | |
| rs2153926304 | 1042 | G>A | No | Ensembl | |
| rs2153926304 | 1042 | G>D | No | Ensembl | |
| COSM731904 | 1042 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2153926292 | 1042 | G>S | No | Ensembl | |
| rs2153926304 | 1042 | G>V | No | Ensembl | |
| rs1588398967 | 1043 | K>N | No | Ensembl | |
|
COSM1327978 rs1185161404 |
1044 | L>F | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs749795590 | 1045 | H>P | No |
ExAC gnomAD |
|
| rs1303420613 | 1045 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1286774925 | 1049 | A>T | No | gnomAD | |
| TCGA novel | 1050 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768427721 | 1052 | P>L | No |
ExAC gnomAD |
|
| rs1563822593 | 1052 | P>S | No |
TOPMed gnomAD |
|
| rs1486672262 | 1053 | L>P | No |
TOPMed gnomAD |
|
| rs765079324 | 1054 | N>D | No |
ExAC gnomAD |
|
| rs765079324 | 1054 | N>Y | No |
ExAC gnomAD |
|
| rs2092572802 | 1055 | E>K | No | TOPMed | |
| TCGA novel | 1057 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1588400650 | 1058 | S>R | No | Ensembl | |
|
rs147934418 COSM1327977 |
1062 | R>C | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs760265335 | 1062 | R>H | No | Ensembl | |
| rs760265335 | 1062 | R>L | No | Ensembl | |
| rs147934418 | 1062 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3824999 COSM3825000 |
1065 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs575678501 | 1065 | Q>K | No | 1000Genomes | |
| rs1274688733 | 1071 | T>S | No | TOPMed | |
| rs267599987 | 1073 | F>I | No | Ensembl | |
| rs2092582776 | 1074 | L>P | No | Ensembl | |
| rs2153942046 | 1076 | P>A | No | Ensembl | |
|
COSM4121448 rs2153942057 COSM4121449 |
1076 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2153942057 | 1076 | P>L | No | Ensembl | |
| rs2153942057 | 1076 | P>R | No | Ensembl | |
| rs2153942046 | 1076 | P>S | No | Ensembl | |
| rs2153942046 | 1076 | P>T | No | Ensembl | |
| rs2153942099 | 1077 | V>A | No | Ensembl | |
| rs2153942099 | 1077 | V>E | No | Ensembl | |
| rs2153942099 | 1077 | V>G | No | Ensembl | |
| rs2153942083 | 1077 | V>L | No | Ensembl | |
| rs2153942083 | 1077 | V>M | No | Ensembl | |
| rs1269748001 | 1078 | I>F | No | Ensembl | |
| rs2153942141 | 1078 | I>N | No | Ensembl | |
| rs2153942141 | 1078 | I>S | No | Ensembl | |
| rs2153942141 | 1078 | I>T | No | Ensembl | |
| rs1269748001 | 1078 | I>V | No | Ensembl | |
| rs774214850 | 1079 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2153942197 | 1080 | E>* | No | Ensembl | |
| rs1441862012 | 1080 | E>D | No | gnomAD | |
| rs2153942206 | 1080 | E>G | No | Ensembl | |
| rs2153942197 | 1080 | E>K | No | Ensembl | |
| rs2153942197 | 1080 | E>Q | No | Ensembl | |
| rs2153942206 | 1080 | E>V | No | Ensembl | |
| rs2153942222 | 1081 | I>F | No | Ensembl | |
| rs2153942222 | 1081 | I>L | No | Ensembl | |
| rs2092831255 | 1081 | I>M | No | gnomAD | |
| rs2153942232 | 1081 | I>N | No | Ensembl | |
| rs2153942232 | 1081 | I>S | No | Ensembl | |
| rs2153942222 | 1081 | I>V | No | Ensembl | |
| rs2153942250 | 1082 | P>A | No | Ensembl | |
|
COSM1539205 COSM6166256 rs1563830876 COSM6166255 |
1082 | P>H | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs1563830876 | 1082 | P>L | No | Ensembl | |
| rs1563830876 | 1082 | P>R | No | Ensembl | |
| rs2153942250 | 1082 | P>S | No | Ensembl | |
| rs2153942250 | 1082 | P>T | No | Ensembl | |
| rs2153942291 | 1083 | H>D | No | Ensembl | |
| rs2153942306 | 1083 | H>L | No | Ensembl | |
| rs2153942291 | 1083 | H>N | No | Ensembl | |
| rs2153942306 | 1083 | H>R | No | Ensembl | |
| rs2153942291 | 1083 | H>Y | No | Ensembl | |
| rs2153942311 | 1084 | F>I | No | Ensembl | |
| rs2153942325 | 1084 | F>L | No | Ensembl | |
| rs2153942319 | 1084 | F>Y | No | Ensembl | |
| rs759670378 | 1085 | A>E | No |
ExAC gnomAD |
|
| rs759670378 | 1085 | A>G | No |
ExAC gnomAD |
|
| rs2153942332 | 1085 | A>P | No | Ensembl | |
| rs2153942332 | 1085 | A>T | No | Ensembl | |
|
rs759670378 COSM4121450 COSM3007008 |
1085 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs2153942379 | 1086 | A>D | No | Ensembl | |
| rs2153942379 | 1086 | A>G | No | Ensembl | |
| rs2153942366 | 1086 | A>P | No | Ensembl | |
| rs2153942366 | 1086 | A>S | No | Ensembl | |
| rs2153942366 | 1086 | A>T | No | Ensembl | |
| rs2153942379 | 1086 | A>V | No | Ensembl | |
|
rs1331169046 RCV001757417 |
1087 | L>F | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2153942421 | 1087 | L>H | No | Ensembl | |
| rs1331169046 | 1087 | L>I | No |
TOPMed gnomAD |
|
| rs2153942421 | 1087 | L>P | No | Ensembl | |
| rs1331169046 | 1087 | L>V | No |
TOPMed gnomAD |
|
| rs2153942439 | 1088 | R>* | No | Ensembl | |
| rs2153942439 | 1088 | R>G | No | Ensembl | |
| rs2092834614 | 1089 | G>R | No | TOPMed | |
| rs1384689202 | 1090 | K>* | No | TOPMed | |
|
RCV000619233 CA357935992 rs1384689202 |
1090 | K>E | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs2092835478 | 1090 | K>M | No | TOPMed | |
| rs886059011 | 1090 | K>N | No | Ensembl | |
| rs2092835478 | 1090 | K>R | No | TOPMed | |
| rs1366976932 | 1091 | E>D | No | TOPMed | |
| rs2153942526 | 1091 | E>G | No | Ensembl | |
| rs2153942512 | 1091 | E>K | No | Ensembl | |
| rs2153942526 | 1091 | E>V | No | Ensembl | |
| rs2092836971 | 1092 | R>G | No | Ensembl | |
| rs2153942555 | 1092 | R>M | No | Ensembl | |
| rs2153942555 | 1092 | R>T | No | Ensembl | |
| rs2092836971 | 1092 | R>W | No | Ensembl | |
| rs866316591 | 1093 | E>* | No |
TOPMed gnomAD |
|
| rs2153942581 | 1093 | E>D | No | Ensembl | |
| rs866316591 | 1093 | E>K | No |
TOPMed gnomAD |
|
| rs866316591 | 1093 | E>Q | No |
TOPMed gnomAD |
|
| rs764183866 | 1094 | L>M | No |
ExAC gnomAD |
|
| rs764183866 | 1094 | L>V | No |
ExAC gnomAD |
|
| rs2153942612 | 1095 | V>L | No | Ensembl | |
| rs2153942612 | 1095 | V>M | No | Ensembl | |
| rs2153942631 | 1096 | V>A | No | Ensembl | |
| rs2153942631 | 1096 | V>D | No | Ensembl | |
| rs2153942625 | 1096 | V>F | No | Ensembl | |
| rs2153942631 | 1096 | V>G | No | Ensembl | |
| rs2153942625 | 1096 | V>I | No | Ensembl | |
| rs2153942625 | 1096 | V>L | No | Ensembl | |
| rs2153942653 | 1097 | L>M | No | Ensembl | |
| rs2153942668 | 1097 | L>P | No | Ensembl | |
| rs2153942668 | 1097 | L>Q | No | Ensembl | |
| rs2153942653 | 1097 | L>V | No | Ensembl | |
| rs754235325 | 1098 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs764760708 | 1098 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs754235325 | 1098 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs2153942740 | 1099 | S>N | No | Ensembl | |
| rs2092841101 | 1099 | S>R | No | Ensembl | |
| rs2153942740 | 1099 | S>T | No | Ensembl | |
| rs2153942775 | 1100 | E>D | No | Ensembl | |
| rs2153942764 | 1100 | E>G | No | Ensembl | |
|
RCV001777034 rs2153942754 |
1100 | E>K | No |
ClinVar Ensembl dbSNP |
|
| rs2153942754 | 1100 | E>Q | No | Ensembl | |
| rs2153942764 | 1100 | E>V | No | Ensembl | |
| rs2092841560 | 1101 | N>D | No | gnomAD | |
|
RCV002324193 RCV001768332 rs1588425694 |
1101 | N>K | No |
ClinVar Ensembl dbSNP |
|
| rs2092841560 | 1101 | N>Y | No | gnomAD | |
| rs2153942818 | 1102 | G>A | No | Ensembl | |
| rs2153942818 | 1102 | G>E | No | Ensembl | |
| rs2153942806 | 1102 | G>R | No | Ensembl | |
| rs2153942818 | 1102 | G>V | No | Ensembl | |
|
COSM1426444 COSM5146063 rs2153942859 |
1103 | D>E | large_intestine Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
| rs2153942849 | 1103 | D>G | No | Ensembl | |
| rs2153942835 | 1103 | D>H | No | Ensembl | |
| rs2153942835 | 1103 | D>N | No | Ensembl | |
| rs2153942849 | 1103 | D>V | No | Ensembl | |
| rs2153942835 | 1103 | D>Y | No | Ensembl | |
| rs2153942870 | 1104 | S>C | No | Ensembl | |
| rs2153942870 | 1104 | S>G | No | Ensembl | |
| rs2153942879 | 1104 | S>R | No | Ensembl | |
| rs2153942889 | 1105 | W>* | No | Ensembl | |
| rs2153942900 | 1105 | W>* | No | Ensembl | |
| rs2153942900 | 1105 | W>C | No | Ensembl | |
| rs2153942889 | 1105 | W>S | No | Ensembl | |
| rs2153942912 | 1106 | K>R | No | Ensembl | |
| rs2153942918 | 1107 | E>* | No | Ensembl | |
|
COSM384450 rs1563831864 |
1107 | E>D | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2153942918 | 1107 | E>K | No | Ensembl | |
| rs2153942918 | 1107 | E>Q | No | Ensembl | |
| rs2153942927 | 1107 | E>V | No | Ensembl | |
| rs2153942942 | 1108 | H>D | No | Ensembl | |
| rs2153942952 | 1108 | H>L | No | Ensembl | |
| rs2153942942 | 1108 | H>N | No | Ensembl | |
| rs2153942952 | 1108 | H>P | No | Ensembl | |
| rs2153942959 | 1108 | H>Q | No | Ensembl | |
| rs2153942942 | 1108 | H>Y | No | Ensembl | |
| rs2153942966 | 1109 | F>I | No | Ensembl | |
|
COSM3599246 rs1437464551 COSM3599247 |
1109 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs2153943005 | 1110 | C>* | No | Ensembl | |
| rs1014408669 | 1110 | C>R | No |
TOPMed gnomAD |
|
| rs2153942995 | 1110 | C>S | No | Ensembl | |
| rs1014408669 | 1110 | C>S | No |
TOPMed gnomAD |
|
| rs2153942995 | 1110 | C>Y | No | Ensembl | |
| rs2153943025 | 1111 | D>E | No | Ensembl | |
| rs202159697 | 1111 | D>G | No | 1000Genomes | |
| rs2153943013 | 1111 | D>H | No | Ensembl | |
| rs2153943013 | 1111 | D>N | No | Ensembl | |
| rs202159697 | 1111 | D>V | No | 1000Genomes | |
| rs2153943013 | 1111 | D>Y | No | Ensembl | |
| rs2153943048 | 1112 | Y>F | No | Ensembl | |
| rs746376921 | 1112 | Y>H | No |
ExAC gnomAD |
|
| rs746376921 | 1112 | Y>N | No |
ExAC gnomAD |
|
| rs2153943068 | 1113 | T>I | No | Ensembl | |
|
COSM6099115 COSM6099116 |
1113 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2153943068 | 1113 | T>S | No | Ensembl | |
| rs1563832253 | 1114 | E>D | No | TOPMed | |
| rs2153943105 | 1114 | E>G | No | Ensembl | |
| rs2153943094 | 1114 | E>K | No | Ensembl | |
| rs2153943094 | 1114 | E>Q | No | Ensembl | |
| rs2153943105 | 1114 | E>V | No | Ensembl | |
| rs1056381438 | 1115 | D>E | No | Ensembl | |
| rs1467007859 | 1115 | D>H | No | gnomAD | |
| rs1467007859 | 1115 | D>N | No | gnomAD | |
| rs780830817 | 1115 | D>V | No |
ExAC gnomAD |
|
| rs2153943156 | 1116 | E>G | No | Ensembl | |
| rs2153943147 | 1116 | E>K | No | Ensembl | |
| rs2153943147 | 1116 | E>Q | No | Ensembl | |
| rs2153943156 | 1116 | E>V | No | Ensembl | |
| rs2153943177 | 1117 | L>* | No | Ensembl | |
| rs2092848128 | 1117 | L>F | No | TOPMed | |
| rs2153943170 | 1117 | L>M | No | Ensembl | |
| rs2153943195 | 1118 | N>I | No | Ensembl | |
| rs2153943214 | 1118 | N>K | No | Ensembl | |
| rs2153943231 | 1119 | E>K | No | Ensembl | |
| rs2153943231 | 1119 | E>Q | No | Ensembl | |
| rs2153943261 | 1120 | I>N | No | Ensembl | |
| rs2092848592 | 1120 | I>V | No | TOPMed | |
| rs2153943274 | 1121 | L>H | No | Ensembl | |
| COSM1327976 | 1121 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2153943302 | 1122 | N>D | No | Ensembl | |
| rs2153943302 | 1122 | N>H | No | Ensembl | |
| rs2153943328 | 1122 | N>I | No | Ensembl | |
| rs114896457 | 1122 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2153943328 | 1122 | N>S | No | Ensembl | |
| rs2153943328 | 1122 | N>T | No | Ensembl | |
| rs2153943302 | 1122 | N>Y | No | Ensembl | |
| rs2092850123 | 1123 | G>A | No | gnomAD | |
| rs138381417 | 1123 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs2092850123 | 1123 | G>D | No | gnomAD | |
| rs138381417 | 1123 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs138381417 | 1123 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2092850123 | 1123 | G>V | No | gnomAD | |
|
TCGA novel rs749121374 |
1124 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC gnomAD NCI-TCGA |
| rs772670683 | 1124 | M>V | No |
ExAC gnomAD |
|
| rs1259470793 | 1125 | D>E | No |
TOPMed gnomAD |
|
| rs2153943504 | 1125 | D>G | No | Ensembl | |
| rs1043468981 | 1125 | D>N | No |
TOPMed gnomAD |
|
|
COSM5129733 rs1043468981 COSM1426445 |
1125 | D>Y | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs1397117454 | 1126 | E>D | No | gnomAD | |
| rs1166721962 | 1126 | E>G | No | gnomAD | |
| rs2092853044 | 1126 | E>K | No | TOPMed | |
| rs1166721962 | 1126 | E>V | No | gnomAD | |
| rs1414247083 | 1127 | V>A | No | TOPMed | |
| rs1414247083 | 1127 | V>E | No | TOPMed | |
| rs2153943568 | 1127 | V>I | No | Ensembl | |
| rs2153943568 | 1127 | V>L | No | Ensembl | |
| rs2093460133 | 1128 | L>P | No | gnomAD | |
| rs2153957614 | 1129 | D>E | No | Ensembl | |
| rs2153957598 | 1129 | D>H | No | Ensembl | |
| rs2153957598 | 1129 | D>N | No | Ensembl | |
| rs2153957604 | 1129 | D>V | No | Ensembl | |
| rs2153957598 | 1129 | D>Y | No | Ensembl | |
| rs2153957626 | 1130 | S>C | No | Ensembl | |
|
COSM6099113 COSM6099114 |
1130 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777538823 | 1130 | S>N | No |
ExAC gnomAD |
|
| rs976177554 | 1131 | P>A | No |
TOPMed gnomAD |
|
| rs2153957647 | 1131 | P>L | No | Ensembl | |
|
rs2153957647 COSM380187 |
1131 | P>R | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs976177554 | 1131 | P>S | No |
TOPMed gnomAD |
|
| rs976177554 | 1131 | P>T | No |
TOPMed gnomAD |
|
| rs2153957668 | 1132 | E>D | No | Ensembl | |
| rs2153957661 | 1132 | E>K | No | Ensembl | |
| rs2153957661 | 1132 | E>Q | No | Ensembl | |
|
rs748934954 CA3050843 RCV000485972 RCV003302720 |
1133 | D>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1476053477 | 1133 | D>H | No |
TOPMed gnomAD |
|
| rs2093461688 | 1133 | D>V | No | Ensembl | |
| rs1476053477 | 1133 | D>Y | No |
TOPMed gnomAD |
|
| rs188812120 | 1134 | L>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs188812120 | 1134 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2153957702 | 1135 | E>* | No | Ensembl | |
| rs2093462891 | 1135 | E>D | No | TOPMed | |
| rs2153957702 | 1135 | E>K | No | Ensembl | |
| rs2153957702 | 1135 | E>Q | No | Ensembl | |
| rs2153957709 | 1135 | E>V | No | Ensembl | |
| rs2153957727 | 1136 | K>* | No | Ensembl | |
| rs2153957736 | 1136 | K>M | No | Ensembl | |
| rs2153957743 | 1136 | K>N | No | Ensembl | |
| rs2153957751 | 1137 | K>* | No | Ensembl | |
| rs2153957759 | 1137 | K>I | No | Ensembl | |
| rs2153957766 | 1137 | K>N | No | Ensembl | |
| rs2153957759 | 1137 | K>R | No | Ensembl | |
| rs2153957759 | 1137 | K>T | No | Ensembl | |
| rs745624171 | 1138 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs745624171 | 1138 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1353812954 | 1138 | R>P | No |
TOPMed gnomAD |
|
| rs1232383514 | 1139 | I>F | No | gnomAD | |
|
rs1232383514 RCV001776756 |
1139 | I>L | No |
ClinVar dbSNP gnomAD |
|
| rs1261091945 | 1139 | I>M | No | gnomAD | |
| rs2153957814 | 1139 | I>N | No | Ensembl | |
| rs2153957814 | 1139 | I>S | No | Ensembl | |
| rs2153957814 | 1139 | I>T | No | Ensembl | |
| rs1232383514 | 1139 | I>V | No | gnomAD | |
| rs2153957863 | 1140 | C>* | No | Ensembl | |
| TCGA novel | 1140 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2153957839 | 1140 | C>S | No | Ensembl | |
| rs2153957851 | 1140 | C>S | No | Ensembl | |
| rs2153957863 | 1140 | C>W | No | Ensembl | |
| rs2153957851 | 1140 | C>Y | No | Ensembl | |
| rs772003205 | 1141 | R>C | No |
ExAC gnomAD |
|
| rs1203293302 | 1141 | R>H | No |
TOPMed gnomAD |
|
| rs1203293302 | 1141 | R>L | No |
TOPMed gnomAD |
|
| rs1203293302 | 1141 | R>P | No |
TOPMed gnomAD |
|
| rs775233245 | 1142 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs775233245 | 1142 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs2153957925 | 1142 | I>M | No | Ensembl | |
| rs2153957915 | 1142 | I>N | No | Ensembl | |
| rs2153957915 | 1142 | I>T | No | Ensembl | |
| rs775233245 | 1142 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs2153957939 | 1143 | I>F | No | Ensembl | |
| rs2153957952 | 1143 | I>M | No | Ensembl | |
| rs2153957948 | 1143 | I>N | No | Ensembl | |
| rs2093465256 | 1144 | T>I | No | TOPMed | |
| rs2153957961 | 1144 | T>P | No | Ensembl | |
| rs2093465256 | 1144 | T>S | No | TOPMed | |
| rs2153957961 | 1144 | T>S | No | Ensembl | |
|
TCGA novel rs1485692149 |
1145 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1485692149 | 1145 | R>G | No | gnomAD | |
| rs2093465785 | 1145 | R>L | No | Ensembl | |
| rs2093465785 | 1145 | R>P | No | Ensembl | |
| rs2153958036 | 1146 | D>A | No | Ensembl | |
| rs760867782 | 1146 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs2153958022 | 1146 | D>H | No | Ensembl | |
| rs2153958022 | 1146 | D>N | No | Ensembl | |
| rs2153958036 | 1146 | D>V | No | Ensembl | |
| rs2153958022 | 1146 | D>Y | No | Ensembl | |
| rs2153958048 | 1147 | F>I | No | Ensembl | |
| rs2153958048 | 1147 | F>L | No | Ensembl | |
| rs2153958055 | 1147 | F>L | No | Ensembl | |
| rs2153958062 | 1148 | P>L | No | Ensembl | |
| rs2153958062 | 1148 | P>R | No | Ensembl | |
| rs2153958085 | 1149 | Q>* | No | Ensembl | |
| rs2153958085 | 1149 | Q>E | No | Ensembl | |
| rs2153958102 | 1149 | Q>H | No | Ensembl | |
| rs1226848625 | 1149 | Q>L | No | gnomAD | |
| rs2153958137 | 1150 | Y>* | No | Ensembl | |
| rs2153958128 | 1150 | Y>C | No | Ensembl | |
| rs768618436 | 1150 | Y>D | No |
ExAC gnomAD |
|
| rs2153958128 | 1150 | Y>F | No | Ensembl | |
| rs768618436 | 1150 | Y>H | No |
ExAC gnomAD |
|
| rs768618436 | 1150 | Y>N | No |
ExAC gnomAD |
|
| rs1276293465 | 1151 | F>C | No |
TOPMed gnomAD |
|
| rs2153958150 | 1151 | F>I | No | Ensembl | |
| rs2153958150 | 1151 | F>L | No | Ensembl | |
| rs1216235769 | 1151 | F>L | No | TOPMed | |
| rs1276293465 | 1151 | F>Y | No |
TOPMed gnomAD |
|
| rs376536631 | 1152 | A>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs376536631 | 1152 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs2153958172 | 1152 | A>P | No | Ensembl | |
| rs2153958172 | 1152 | A>S | No | Ensembl | |
| rs2153958205 | 1153 | V>L | No | Ensembl | |
| rs2153958205 | 1153 | V>M | No | Ensembl | |
| rs2153958228 | 1154 | V>A | No | Ensembl | |
| rs2153958228 | 1154 | V>E | No | Ensembl | |
| rs1563854784 | 1154 | V>L | No | Ensembl | |
| rs1563854784 | 1154 | V>M | No | Ensembl | |
| rs2153958255 | 1155 | S>A | No | Ensembl | |
| rs1364713392 | 1155 | S>C | No | gnomAD | |
| rs1364713392 | 1155 | S>F | No | gnomAD | |
| rs2153958255 | 1155 | S>P | No | Ensembl | |
| rs2153958255 | 1155 | S>T | No | Ensembl | |
| rs1364713392 | 1155 | S>Y | No | gnomAD | |
|
COSM307994 rs2153958291 COSM3825001 |
1156 | R>C | biliary_tract Variant assessed as Somatic; MODERATE impact. breast [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2153958291 | 1156 | R>G | No | Ensembl | |
|
COSM4424788 COSM4424789 rs765509936 |
1156 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs765509936 | 1156 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs2153958291 | 1156 | R>S | No | Ensembl | |
| rs2093469305 | 1157 | I>F | No | Ensembl | |
| rs2093469305 | 1157 | I>L | No | Ensembl | |
| rs1157298737 | 1157 | I>M | No |
TOPMed gnomAD |
|
| rs2153958333 | 1157 | I>N | No | Ensembl | |
| rs2093469305 | 1157 | I>V | No | Ensembl | |
| rs2093469908 | 1158 | K>* | No |
TOPMed gnomAD |
|
| rs2153958361 | 1158 | K>I | No | Ensembl | |
| rs2153958368 | 1158 | K>N | No | Ensembl | |
| rs2093469908 | 1158 | K>Q | No |
TOPMed gnomAD |
|
| rs2153958361 | 1158 | K>T | No | Ensembl | |
| rs2153958383 | 1159 | Q>E | No | Ensembl | |
| rs2153958404 | 1159 | Q>H | No | Ensembl | |
| rs2153958383 | 1159 | Q>K | No | Ensembl | |
| rs2153958400 | 1159 | Q>R | No | Ensembl | |
| rs2153958439 | 1160 | D>E | No | Ensembl | |
| rs2153958418 | 1160 | D>H | No | Ensembl | |
|
TCGA novel rs2153958418 |
1160 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2153958433 | 1160 | D>V | No | Ensembl | |
| rs2093470198 | 1161 | S>C | No | TOPMed | |
| rs2153958460 | 1161 | S>N | No | Ensembl | |
| rs2093470198 | 1161 | S>R | No | TOPMed | |
| rs1057520881 | 1161 | S>R | No | Ensembl | |
| rs2153958460 | 1161 | S>T | No | Ensembl | |
| rs1360473870 | 1162 | N>I | No | gnomAD | |
| rs2153958499 | 1162 | N>K | No | Ensembl | |
| rs1360473870 | 1162 | N>S | No | gnomAD | |
|
COSM3781910 rs2153958505 COSM3781909 |
1163 | L>M | pancreas [Cosmic] | No |
cosmic curated Ensembl |
| rs2153958519 | 1163 | L>P | No | Ensembl | |
| rs2153958519 | 1163 | L>Q | No | Ensembl | |
| rs2153958505 | 1163 | L>V | No | Ensembl | |
|
RCV001009321 rs1588487990 |
1164 | I>missing | No |
ClinVar dbSNP |
|
| rs2153958542 | 1164 | I>N | No | Ensembl | |
| rs2153958542 | 1164 | I>S | No | Ensembl | |
| rs2153958567 | 1165 | G>C | No | Ensembl | |
| rs2153958567 | 1165 | G>R | No | Ensembl | |
| rs2153958567 | 1165 | G>S | No | Ensembl | |
| rs2153958581 | 1165 | G>V | No | Ensembl | |
| rs2093471540 | 1166 | P>A | No | Ensembl | |
| rs2153958614 | 1166 | P>L | No | Ensembl | |
| rs2153958614 | 1166 | P>Q | No | Ensembl | |
| rs2153958614 | 1166 | P>R | No | Ensembl | |
| rs2093471540 | 1166 | P>T | No | Ensembl | |
| rs2153958645 | 1167 | E>D | No | Ensembl | |
| rs2153958638 | 1167 | E>K | No | Ensembl | |
| rs2153958638 | 1167 | E>Q | No | Ensembl | |
| rs2153958653 | 1168 | G>* | No | Ensembl | |
| rs2153958663 | 1168 | G>A | No | Ensembl | |
| rs2153958663 | 1168 | G>E | No | Ensembl | |
| rs2153958653 | 1168 | G>R | No | Ensembl | |
| rs2153958663 | 1168 | G>V | No | Ensembl | |
| rs2153958712 | 1169 | G>A | No | Ensembl | |
| rs763340139 | 1169 | G>C | No |
ExAC gnomAD |
|
| rs763340139 | 1169 | G>S | No |
ExAC gnomAD |
|
|
CA16618027 rs1064794900 RCV000483205 |
1170 | V>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2153958749 | 1170 | V>A | No | Ensembl | |
| rs2153958749 | 1170 | V>E | No | Ensembl | |
| rs2153958749 | 1170 | V>G | No | Ensembl | |
| rs1486240382 | 1170 | V>I | No |
TOPMed gnomAD |
|
| rs1486240382 | 1170 | V>L | No |
TOPMed gnomAD |
|
| rs1287818728 | 1171 | L>M | No | Ensembl | |
| rs2153958782 | 1171 | L>Q | No | Ensembl | |
| rs1287818728 | 1171 | L>V | No | Ensembl | |
| rs2153958805 | 1172 | S>C | No | Ensembl | |
| rs1357760067 | 1172 | S>R | No |
TOPMed gnomAD |
|
| rs755716405 | 1172 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs2153958842 | 1173 | S>C | No | Ensembl | |
| rs2153958852 | 1173 | S>I | No | Ensembl | |
| rs2153958852 | 1173 | S>N | No | Ensembl | |
| rs2153958863 | 1173 | S>R | No | Ensembl | |
| rs2153958852 | 1173 | S>T | No | Ensembl | |
| rs2153958892 | 1174 | T>I | No | Ensembl | |
| rs2153958892 | 1174 | T>K | No | Ensembl | |
| rs2153958875 | 1174 | T>P | No | Ensembl | |
| rs2153958892 | 1174 | T>R | No | Ensembl | |
| rs2153958875 | 1174 | T>S | No | Ensembl | |
| rs2153958909 | 1175 | V>L | No | Ensembl | |
| rs2153958909 | 1175 | V>M | No | Ensembl | |
| rs2153958930 | 1176 | V>E | No | Ensembl | |
| rs2153958930 | 1176 | V>G | No | Ensembl | |
| rs2153958944 | 1177 | P>A | No | Ensembl | |
| rs1563856063 | 1177 | P>H | No | Ensembl | |
| rs1563856063 | 1177 | P>L | No | Ensembl | |
| rs1563856063 | 1177 | P>R | No | Ensembl | |
| rs2153958944 | 1177 | P>S | No | Ensembl | |
| rs2153958944 | 1177 | P>T | No | Ensembl | |
| rs2153958971 | 1178 | Q>* | No | Ensembl | |
| rs2153958971 | 1178 | Q>E | No | Ensembl | |
| rs2153958992 | 1178 | Q>H | No | Ensembl | |
| rs2153958971 | 1178 | Q>K | No | Ensembl | |
| rs2153958980 | 1178 | Q>L | No | Ensembl | |
| rs2153958980 | 1178 | Q>P | No | Ensembl | |
| rs2153958980 | 1178 | Q>R | No | Ensembl | |
| rs2153959011 | 1179 | V>E | No | Ensembl | |
| rs2153959011 | 1179 | V>G | No | Ensembl | |
| rs1331314687 | 1179 | V>L | No |
TOPMed gnomAD |
|
|
RCV001776734 rs1331314687 |
1179 | V>M | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2153959029 | 1180 | Q>* | No | Ensembl | |
| rs2153959029 | 1180 | Q>E | No | Ensembl | |
| rs2153959029 | 1180 | Q>K | No | Ensembl | |
| rs762718905 | 1180 | Q>L | No | gnomAD | |
| COSM731901 | 1180 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs762718905 | 1180 | Q>R | No | gnomAD | |
| rs2153959078 | 1181 | A>D | No | Ensembl | |
| rs2153959078 | 1181 | A>G | No | Ensembl | |
| rs1410975038 | 1181 | A>P | No |
TOPMed gnomAD |
|
| rs1410975038 | 1181 | A>S | No |
TOPMed gnomAD |
|
| rs1410975038 | 1181 | A>T | No |
TOPMed gnomAD |
|
| rs2153959078 | 1181 | A>V | No | Ensembl | |
| rs2153959127 | 1182 | V>A | No | Ensembl | |
| rs2153959127 | 1182 | V>D | No | Ensembl | |
| rs2153959127 | 1182 | V>G | No | Ensembl | |
| rs756936036 | 1182 | V>I | No |
ExAC gnomAD |
|
| rs756936036 | 1182 | V>L | No |
ExAC gnomAD |
|
| rs2153959150 | 1183 | F>I | No | Ensembl | |
| rs2153959160 | 1183 | F>L | No | Ensembl | |
| rs2093477363 | 1184 | P>A | No |
TOPMed gnomAD |
|
| rs2153959191 | 1184 | P>Q | No | Ensembl | |
| rs2093477363 | 1184 | P>S | No |
TOPMed gnomAD |
|
| rs2093477363 | 1184 | P>T | No |
TOPMed gnomAD |
|
| rs368553743 | 1185 | E>D | No |
ESP ExAC gnomAD |
|
| rs2153959221 | 1185 | E>G | No | Ensembl | |
| rs2153959212 | 1185 | E>K | No | Ensembl | |
| rs2153959212 | 1185 | E>Q | No | Ensembl | |
| rs2153959255 | 1186 | G>A | No | Ensembl | |
|
COSM268036 rs1168556832 |
1186 | G>R | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated TOPMed NCI-TCGA Cosmic |
| rs2153959255 | 1186 | G>V | No | Ensembl | |
| rs1168556832 | 1186 | G>W | No | TOPMed | |
| rs2153959312 | 1187 | A>E | No | Ensembl | |
| rs2153959312 | 1187 | A>G | No | Ensembl | |
| TCGA novel | 1187 | A>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745677085 | 1187 | A>P | No |
ExAC gnomAD |
|
| rs745677085 | 1187 | A>T | No |
ExAC gnomAD |
|
| rs2153959312 | 1187 | A>V | No | Ensembl | |
| rs2153959339 | 1188 | L>H | No | Ensembl | |
| rs2153959339 | 1188 | L>P | No | Ensembl | |
| rs1012036010 | 1189 | T>I | No | TOPMed | |
| rs1012036010 | 1189 | T>N | No | TOPMed | |
| rs1012036010 | 1189 | T>S | No | TOPMed | |
| rs2153959374 | 1189 | T>S | No | Ensembl | |
| rs2153959420 | 1190 | K>* | No | Ensembl | |
| rs2153959435 | 1190 | K>M | No | Ensembl | |
| rs2153959444 | 1190 | K>N | No | Ensembl | |
| rs771751897 | 1191 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs780110299 | 1191 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs2153959516 | 1192 | I>F | No | Ensembl | |
| rs768832616 | 1192 | I>M | No | ExAC | |
| rs2153959524 | 1192 | I>N | No | Ensembl | |
| rs2153959524 | 1192 | I>S | No | Ensembl | |
| rs761941047 | 1193 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs761941047 | 1193 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs2153959603 | 1194 | V>E | No | Ensembl | |
| rs2153959603 | 1194 | V>G | No | Ensembl | |
| rs1176144832 | 1194 | V>I | No | gnomAD | |
| rs1176144832 | 1194 | V>L | No | gnomAD | |
| rs2153959631 | 1195 | G>A | No | Ensembl | |
|
COSM318679 rs2153959616 |
1195 | G>C | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2153959631 | 1195 | G>D | No | Ensembl | |
| rs2153959616 | 1195 | G>R | No | Ensembl | |
| rs2153959616 | 1195 | G>S | No | Ensembl | |
| rs2153959682 | 1196 | L>M | No | Ensembl | |
| rs2153959719 | 1196 | L>P | No | Ensembl | |
| rs2153959719 | 1196 | L>Q | No | Ensembl | |
| rs2153959719 | 1196 | L>R | No | Ensembl | |
| rs2153959682 | 1196 | L>V | No | Ensembl | |
| rs2153959747 | 1197 | Q>* | No | Ensembl | |
| rs2153959747 | 1197 | Q>E | No | Ensembl | |
| rs2153959747 | 1197 | Q>K | No | Ensembl | |
| rs201424485 | 1198 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201424485 | 1198 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs767923687 | 1199 | Q>P | No |
ExAC gnomAD |
|
| rs1297081607 | 1200 | P>H | No |
TOPMed gnomAD |
|
| rs1297081607 | 1200 | P>R | No |
TOPMed gnomAD |
|
| rs775966082 | 1202 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs1217598734 | 1203 | S>R | No |
TOPMed gnomAD |
|
| rs1690934705 | 1204 | E>D | No | Ensembl | |
| rs977443439 | 1204 | E>K | No | TOPMed | |
| rs1302073543 | 1205 | L>M | No |
TOPMed gnomAD |
|
| rs375594801 | 1208 | K>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1374728779 | 1209 | I>L | No |
TOPMed gnomAD |
|
| rs2093577052 | 1209 | I>N | No | Ensembl | |
| rs750127231 | 1211 | G>C | No |
ExAC gnomAD |
|
| rs2093578630 | 1212 | N>S | No |
TOPMed gnomAD |
|
| rs751313124 | 1215 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs1420889213 | 1217 | S>G | No |
TOPMed gnomAD |
|
| rs1193160347 | 1217 | S>N | No | gnomAD | |
| TCGA novel | 1217 | S>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1162544118 | 1219 | I>V | No |
TOPMed gnomAD |
|
| rs2093582281 | 1220 | V>I | No | Ensembl | |
|
RCV000445085 CA16604664 rs1057522525 |
1221 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs781333985 | 1230 | H>Y | No |
ExAC gnomAD |
|
| rs2093583788 | 1231 | K>E | No | Ensembl | |
| rs748091597 | 1232 | P>R | No |
ExAC gnomAD |
|
| rs760920030 | 1232 | P>T | No | Ensembl | |
| rs2093585031 | 1233 | I>T | No | Ensembl | |
|
RCV000490140 CA357938591 rs777976430 |
1234 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1235459101 | 1235 | M>V | No |
TOPMed gnomAD |
|
| rs1288146739 | 1236 | T>A | No | gnomAD | |
| rs2093587081 | 1236 | T>N | No | Ensembl | |
| rs1217108451 | 1239 | V>I | No | gnomAD | |
|
rs1057523529 CA16605027 RCV000434859 |
1240 | P>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs746276204 | 1241 | K>E | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1242 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772423528 | 1244 | S>G | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1245 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs776017622 | 1246 | V>A | No | ExAC | |
| rs373084223 | 1247 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1249 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs73841964 | 1252 | G>R | No | 1000Genomes | |
| rs2093590819 | 1253 | G>R | No | TOPMed | |
| rs1258421684 | 1253 | G>V | No |
TOPMed gnomAD |
|
| rs1216782321 | 1255 | A>G | No |
TOPMed gnomAD |
|
| rs1216782321 | 1255 | A>V | No |
TOPMed gnomAD |
|
| TCGA novel | 1255 | A>Y | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3767655 rs764537997 COSM3767656 |
1256 | P>L | liver [Cosmic] | No |
cosmic curated ExAC gnomAD |
| TCGA novel | 1256 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762462450 | 1257 | T>A | No |
ExAC gnomAD |
|
| rs1412760053 | 1257 | T>I | No |
TOPMed gnomAD |
|
| rs765956986 | 1259 | R>T | No |
ExAC gnomAD |
|
| rs1245737444 | 1262 | C>W | No |
TOPMed gnomAD |
|
| rs972051732 | 1262 | C>Y | No |
TOPMed gnomAD |
|
| rs1563865131 | 1264 | I>V | No | Ensembl | |
|
VAR_035607 COSM33532 |
1267 | G>R | Variant assessed as Somatic; MODERATE impact. a colorectal cancer sample; somatic mutation [NCI-TCGA, UniProt] | No |
NCI-TCGA Cosmic UniProt |
| rs2093966790 | 1269 | T>N | No | TOPMed | |
| rs773911742 | 1269 | T>S | No |
ExAC gnomAD |
|
| rs2093967497 | 1270 | P>L | No | Ensembl | |
| rs767227373 | 1270 | P>S | No |
ExAC gnomAD |
|
| TCGA novel | 1271 | A>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1278096936 | 1273 | W>L | No | gnomAD | |
| rs760479007 | 1274 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs752570845 | 1274 | E>K | No |
ExAC gnomAD |
|
| rs538459406 | 1280 | T>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs538459406 | 1280 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1254852335 | 1284 | F>L | No | gnomAD | |
| rs779029836 | 1285 | V>A | No |
ExAC gnomAD |
|
| rs2093971827 | 1286 | N>S | No | Ensembl | |
| rs1416658155 | 1287 | E>A | No | Ensembl | |
| rs750424889 | 1287 | E>K | No | ExAC | |
| rs1171500202 | 1288 | C>F | No |
TOPMed gnomAD |
|
| rs1171500202 | 1288 | C>Y | No |
TOPMed gnomAD |
|
| rs758652829 | 1289 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs758652829 | 1289 | V>L | No |
ExAC TOPMed gnomAD |
|
|
COSM3599251 COSM3599250 |
1290 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1296 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1001628545 | 1297 | A>T | No | TOPMed | |
| TCGA novel | 1298 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1299 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel RCV002263355 rs2153978939 |
1300 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA Ensembl dbSNP |
|
rs2094323878 TCGA novel |
1302 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2094324379 | 1304 | C>F | No | Ensembl | |
| TCGA novel | 1305 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs965077506 | 1307 | I>V | No | Ensembl | |
|
RCV000170737 rs767758503 CA301061 |
1308 | Q>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs2094326229 | 1313 | F>L | No |
TOPMed gnomAD |
|
| rs2094327049 | 1315 | S>T | No | TOPMed | |
| rs755373114 | 1316 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs146261470 | 1317 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3599253 COSM3599252 |
1319 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1050224 | 1320 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1475321238 | 1325 | P>S | No | gnomAD | |
| rs2094329133 | 1326 | Y>F | No | Ensembl | |
| rs936738109 | 1327 | M>I | No |
TOPMed gnomAD |
|
| rs745383192 | 1327 | M>T | No |
ExAC gnomAD |
|
|
rs868750741 COSM3409009 COSM3409008 |
1328 | A>T | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs2094330426 | 1328 | A>V | No |
TOPMed gnomAD |
|
| rs1163149906 | 1331 | V>I | No | gnomAD | |
| rs2094332075 | 1338 | D>V | No | TOPMed | |
| rs768146550 | 1340 | I>N | No |
ExAC gnomAD |
|
| rs768146550 | 1340 | I>T | No |
ExAC gnomAD |
|
|
COSM4900842 COSM4900843 |
1341 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1360054037 | 1343 | R>G | No | gnomAD | |
| rs776522934 | 1345 | R>S | No |
ExAC gnomAD |
|
| TCGA novel | 1347 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761451782 | 1348 | C>S | No |
ExAC gnomAD |
|
| rs773124964 | 1350 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1343465675 | 1352 | D>E | No |
TOPMed gnomAD |
|
|
RCV002324157 rs2153979257 RCV001582392 |
1352 | D>G | No |
ClinVar Ensembl dbSNP |
|
| rs1284679777 | 1360 | Q>H | No | gnomAD | |
| rs866036502 | 1361 | Q>K | No | Ensembl | |
| rs766410850 | 1362 | E>Q | No |
ExAC gnomAD |
|
|
COSM3373367 COSM3373368 |
1366 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1563907281 | 1368 | A>T | No | Ensembl | |
| rs2094338470 | 1368 | A>V | No | Ensembl | |
| TCGA novel | 1369 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1440988148 | 1370 | S>T | No | gnomAD | |
| rs755247866 | 1371 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs755247866 | 1371 | R>M | No |
ExAC TOPMed gnomAD |
|
| rs1442083102 | 1373 | V>M | No | gnomAD | |
| rs940167528 | 1374 | E>Q | No | Ensembl | |
| rs2153983171 | 1375 | V>E | No | Ensembl | |
| rs2153983171 | 1375 | V>G | No | Ensembl | |
| rs2153983163 | 1375 | V>L | No | Ensembl | |
| rs2153983163 | 1375 | V>M | No | Ensembl | |
| rs2153983188 | 1376 | L>* | No | Ensembl | |
| rs2153983193 | 1376 | L>F | No | Ensembl | |
|
TCGA novel rs2094463637 |
1376 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2094463812 | 1377 | E>D | No | Ensembl | |
| rs2153983200 | 1377 | E>K | No | Ensembl | |
| rs2153983200 | 1377 | E>Q | No | Ensembl | |
| rs2094463978 | 1378 | G>R | No | Ensembl | |
| rs2094464147 | 1379 | K>N | No | Ensembl | |
| rs1259616424 | 1380 | P>A | No |
TOPMed gnomAD |
|
| rs1259616424 | 1380 | P>S | No |
TOPMed gnomAD |
|
| rs2153983245 | 1381 | I>F | No | Ensembl | |
| rs1197148822 | 1381 | I>M | No |
TOPMed gnomAD |
|
| rs2153983248 | 1381 | I>N | No | Ensembl | |
| rs2153983248 | 1381 | I>T | No | Ensembl | |
| rs761142483 | 1382 | Y>* | No |
ExAC TOPMed gnomAD |
|
| rs2153983269 | 1382 | Y>F | No | Ensembl | |
| rs752849291 | 1382 | Y>H | No |
ExAC gnomAD |
|
| rs752849291 | 1382 | Y>N | No |
ExAC gnomAD |
|
| rs2153983284 | 1383 | V>D | No | Ensembl | |
|
COSM373163 rs764532145 |
1383 | V>F | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1411614012 | 1384 | D>H | No |
TOPMed gnomAD |
|
| rs1411614012 | 1384 | D>N | No |
TOPMed gnomAD |
|
| rs2153983296 | 1384 | D>V | No | Ensembl | |
| rs1411614012 | 1384 | D>Y | No |
TOPMed gnomAD |
|
| rs2153983310 | 1385 | C>* | No | Ensembl | |
| rs2153983306 | 1385 | C>S | No | Ensembl | |
| rs2153983306 | 1385 | C>Y | No | Ensembl | |
| rs1327570421 | 1386 | F>I | No |
TOPMed gnomAD |
|
| rs567608851 | 1386 | F>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1327570421 | 1386 | F>L | No |
TOPMed gnomAD |
|
| rs2153983321 | 1386 | F>Y | No | Ensembl | |
| rs2153983341 | 1387 | G>A | No | Ensembl | |
| rs751096182 | 1387 | G>C | No |
ExAC TOPMed gnomAD |
|
|
TCGA novel rs2153983341 |
1387 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs751096182 | 1387 | G>R | No |
ExAC TOPMed gnomAD |
|
|
COSM4121455 rs751096182 COSM4121454 |
1387 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2153983341 | 1387 | G>V | No | Ensembl | |
| rs2153983354 | 1388 | N>I | No | Ensembl | |
| rs1024535340 | 1388 | N>K | No | Ensembl | |
| rs2153983354 | 1388 | N>T | No | Ensembl | |
|
COSM1244955 rs2153983368 |
1389 | L>F | oesophagus [Cosmic] | No |
cosmic curated Ensembl |
| rs867849311 | 1389 | L>V | No | Ensembl | |
| rs2153983389 | 1390 | V>E | No | Ensembl | |
|
RCV001757450 rs754436435 |
1390 | V>I | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs754436435 | 1390 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2153983393 | 1391 | P>A | No | Ensembl | |
| rs2153983402 | 1391 | P>L | No | Ensembl | |
| rs2153983402 | 1391 | P>Q | No | Ensembl | |
| rs2153983393 | 1391 | P>S | No | Ensembl | |
|
COSM6099107 COSM6099108 COSM585702 rs2153983393 |
1391 | P>T | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
| rs2153983411 | 1392 | L>* | No | Ensembl | |
| rs2153983418 | 1393 | T>A | No | Ensembl | |
| rs2153983423 | 1393 | T>N | No | Ensembl | |
| rs2153983423 | 1393 | T>S | No | Ensembl | |
| rs2153983418 | 1393 | T>S | No | Ensembl | |
| rs780968977 | 1394 | K>E | No |
ExAC gnomAD |
|
| rs2153983440 | 1394 | K>N | No | Ensembl | |
| rs2153983442 | 1395 | S>C | No | Ensembl | |
| rs2153983442 | 1395 | S>G | No | Ensembl | |
| rs2094467650 | 1395 | S>N | No | gnomAD | |
| rs2094467650 | 1395 | S>T | No | gnomAD | |
| rs1475044543 | 1396 | G>A | No | TOPMed | |
| rs1395035426 | 1396 | G>S | No | gnomAD | |
| rs1475044543 | 1396 | G>V | No | TOPMed | |
| rs2153983477 | 1397 | Q>* | No | Ensembl | |
| rs1459354786 | 1397 | Q>H | No |
TOPMed gnomAD |
|
| rs2153983477 | 1397 | Q>K | No | Ensembl | |
| rs1416181851 | 1397 | Q>L | No | TOPMed | |
| rs1416181851 | 1397 | Q>R | No | TOPMed | |
| rs747720677 | 1398 | H>D | No |
ExAC TOPMed gnomAD |
|
| rs1389326153 | 1398 | H>L | No | gnomAD | |
| rs2153983507 | 1398 | H>Q | No | Ensembl | |
| rs1389326153 | 1398 | H>R | No | gnomAD | |
|
rs747720677 RCV001584596 |
1398 | H>Y | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2094469360 | 1399 | H>D | No | Ensembl | |
| rs2094469360 | 1399 | H>Y | No | Ensembl | |
| rs2153983519 | 1400 | I>K | No | Ensembl | |
| rs2153983517 | 1400 | I>L | No | Ensembl | |
| rs2153983525 | 1400 | I>M | No | Ensembl | |
| rs1293914341 | 1401 | F>I | No | gnomAD | |
| rs2153983539 | 1401 | F>L | No | Ensembl | |
| rs2153983537 | 1401 | F>Y | No | Ensembl | |
| rs2153983543 | 1402 | S>C | No | Ensembl | |
| rs2153983543 | 1402 | S>G | No | Ensembl | |
| rs2094469874 | 1402 | S>I | No |
TOPMed gnomAD |
|
| rs769675138 | 1402 | S>R | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1404 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1426446 COSM5156678 rs763282994 |
1405 | A>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs77782261 | 1405 | A>D | No | Ensembl | |
| rs77782261 | 1405 | A>G | No | Ensembl | |
| rs2153983566 | 1405 | A>P | No | Ensembl | |
| rs2153983566 | 1405 | A>T | No | Ensembl | |
| rs77782261 | 1405 | A>V | No | Ensembl | |
| rs2153983591 | 1406 | F>I | No | Ensembl | |
| rs2153983591 | 1406 | F>L | No | Ensembl | |
| rs777564125 | 1406 | F>L | No | ExAC | |
| rs2153983595 | 1406 | F>S | No | Ensembl | |
| rs2153983595 | 1406 | F>Y | No | Ensembl | |
| rs2153983613 | 1407 | K>* | No | Ensembl | |
|
COSM3373370 COSM3373369 |
1407 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3599254 COSM3599255 |
1408 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1277958943 | 1408 | E>V | No | gnomAD | |
| rs2153983629 | 1409 | N>I | No | Ensembl | |
| rs2153983634 | 1409 | N>K | No | Ensembl | |
| rs2153983623 | 1409 | N>Y | No | Ensembl | |
| rs2094471427 | 1410 | R>* | No |
TOPMed gnomAD |
|
|
rs2094471427 RCV001758953 |
1410 | R>G | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2094471601 | 1410 | R>I | No | TOPMed | |
|
RCV001569616 rs2094471601 |
1410 | R>K | No |
ClinVar TOPMed dbSNP |
|
| rs2153983651 | 1410 | R>S | No | Ensembl | |
| rs2094471601 | 1410 | R>T | No | TOPMed | |
| rs2094471783 | 1411 | L>F | No | TOPMed | |
| rs2153983667 | 1411 | L>H | No | Ensembl | |
| rs2094471783 | 1411 | L>I | No | TOPMed | |
| rs2094471783 | 1411 | L>V | No | TOPMed | |
| rs2094471953 | 1412 | P>A | No | Ensembl | |
| rs2153983683 | 1412 | P>L | No | Ensembl | |
| rs2094471953 | 1412 | P>S | No | Ensembl | |
| rs2094471953 | 1412 | P>T | No | Ensembl | |
| rs878854259 | 1413 | L>I | No | Ensembl | |
| rs878854259 | 1413 | L>V | No | Ensembl | |
| rs2153983706 | 1414 | F>I | No | Ensembl | |
| rs2153983713 | 1414 | F>L | No | Ensembl | |
| rs2153983725 | 1415 | V>D | No | Ensembl | |
| rs2153983725 | 1415 | V>G | No | Ensembl | |
| rs2153983719 | 1415 | V>I | No | Ensembl | |
| rs2153983719 | 1415 | V>L | No | Ensembl | |
| rs2153983743 | 1416 | K>* | No | Ensembl | |
| rs2153983743 | 1416 | K>E | No | Ensembl | |
| rs2153983752 | 1416 | K>M | No | Ensembl | |
| rs2153983752 | 1416 | K>R | No | Ensembl | |
| rs770698838 | 1418 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs745771608 | 1419 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs769015777 | 1424 | P>A | No |
ExAC TOPMed gnomAD |
|
|
COSM460709 rs769015777 |
1424 | P>S | cervix Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3380751 COSM3380750 rs2094798293 |
1426 | G>R | pancreas [Cosmic] | No |
cosmic curated TOPMed |
| rs762339281 | 1427 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
COSM3825004 rs754722115 COSM1050227 |
1427 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs538611008 | 1431 | M>T | No |
1000Genomes ExAC gnomAD |
|
| rs763388682 | 1431 | M>V | No |
ExAC gnomAD |
|
| rs752150265 | 1432 | K>E | No |
ExAC gnomAD |
|
| rs2094801196 | 1434 | P>S | No |
TOPMed gnomAD |
|
| rs72544151 | 1437 | T>I | No | Ensembl | |
| rs758274171 | 1439 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs1314149675 | 1442 | H>R | No | gnomAD | |
| rs2094804616 | 1444 | A>P | No | TOPMed | |
| rs2094804616 | 1444 | A>T | No | TOPMed | |
| rs1208363698 | 1449 | N>T | No | gnomAD | |
| rs2094805844 | 1451 | T>S | No | Ensembl | |
| rs1302380628 | 1452 | L>W | No | TOPMed | |
| rs779986706 | 1453 | P>L | No |
ExAC gnomAD |
|
|
COSM3945898 rs2094806309 COSM3945899 |
1453 | P>T | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs768856154 | 1454 | I>M | No |
ExAC gnomAD |
|
| rs900258950 | 1455 | Y>C | No |
TOPMed gnomAD |
|
| rs900258950 | 1455 | Y>F | No |
TOPMed gnomAD |
|
| rs786205736 | 1456 | T>I | No | TOPMed | |
|
rs786205736 RCV000170738 CA301066 |
1456 | T>K | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs2095103969 | 1459 | S>T | No | TOPMed | |
| rs2095104439 | 1460 | E>D | No | gnomAD | |
| rs569624547 | 1463 | Q>K | No |
1000Genomes ExAC gnomAD |
|
|
RCV001777055 rs2153999754 |
1463 | Q>R | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 1464 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095105438 | 1464 | E>G | No | TOPMed | |
| COSM731898 | 1466 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764853637 | 1466 | E>V | No |
ExAC gnomAD |
|
| TCGA novel | 1468 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095105943 | 1468 | E>G | No | gnomAD | |
|
rs1355288561 COSM3007042 COSM3696396 |
1469 | I>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1270618996 | 1470 | D>G | No | TOPMed | |
|
COSM139537 CA236541 RCV000171596 rs564648496 |
1470 | D>N | Variant assessed as Somatic; MODERATE impact. endometrium skin [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
| rs943824887 | 1471 | M>I | No | TOPMed | |
| rs2095316635 | 1471 | M>V | No | Ensembl | |
| TCGA novel | 1475 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1476 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1476 | N>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1441072682 | 1477 | D>G | No | gnomAD | |
| rs772785351 | 1478 | E>D | No |
ExAC gnomAD |
|
| rs762685310 | 1479 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs762685310 | 1479 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs771519001 | 1480 | E>D | No | gnomAD | |
| rs149678604 | 1486 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1469128990 | 1488 | K>N | No | gnomAD | |
| rs2095521133 | 1488 | K>R | No | Ensembl | |
| rs1305663766 | 1497 | V>I | No | gnomAD | |
| rs756189974 | 1498 | L>P | No |
ExAC gnomAD |
|
| rs555857460 | 1500 | S>N | No |
1000Genomes ExAC gnomAD |
|
| rs2095523175 | 1502 | D>Y | No | TOPMed | |
| rs2095523550 | 1503 | L>F | No | Ensembl | |
| rs746288014 | 1507 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs746288014 | 1507 | V>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1508 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1509 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780575235 | 1512 | Q>K | No |
ExAC gnomAD |
|
| rs1192497056 | 1513 | D>E | No | TOPMed | |
| rs1249885700 | 1514 | L>F | No |
TOPMed gnomAD |
|
| rs1197349405 | 1514 | L>S | No | gnomAD | |
| COSM6099106 | 1515 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs200920714 COSM201680 |
1519 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2095525668 | 1520 | I>V | No | gnomAD | |
| rs748683803 | 1522 | T>I | No |
ExAC gnomAD |
|
| rs748683803 | 1522 | T>N | No |
ExAC gnomAD |
|
| rs2095526100 | 1523 | T>A | No | TOPMed | |
| COSM6166252 | 1523 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1171103781 | 1523 | T>R | No | gnomAD | |
| rs770724779 | 1524 | D>N | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1527 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1297587544 | 1530 | G>A | No |
TOPMed gnomAD |
|
| rs1237070524 | 1532 | I>S | No |
TOPMed gnomAD |
|
| rs774135595 | 1532 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1388017192 | 1533 | K>Q | No | gnomAD | |
| COSM6166251 | 1534 | V>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs759472794 | 1534 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs759472794 | 1534 | V>M | No |
ExAC TOPMed gnomAD |
|
|
RCV001755565 rs2154015857 |
1535 | K>* | No |
ClinVar Ensembl dbSNP |
|
| rs1218938524 | 1536 | E>A | No | gnomAD | |
| rs1344461358 | 1536 | E>K | No | gnomAD | |
| rs1218938524 | 1536 | E>V | No | gnomAD | |
| rs1320510983 | 1541 | A>T | No | gnomAD | |
| rs1225810825 | 1544 | E>D | No | gnomAD | |
| rs1289663490 | 1544 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs760684730 | 1545 | P>A | No |
ExAC gnomAD |
|
| rs1488808229 | 1545 | P>L | No |
TOPMed gnomAD |
|
| rs760684730 | 1545 | P>S | No |
ExAC gnomAD |
|
| TCGA novel | 1546 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095530258 | 1546 | G>V | No | gnomAD | |
| rs2095530807 | 1548 | P>R | No | Ensembl | |
| rs1211724449 | 1548 | P>T | No |
TOPMed gnomAD |
|
| TCGA novel | 1549 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs763870522 | 1550 | E>A | No |
ExAC gnomAD |
|
| rs753965028 | 1551 | I>V | No |
ExAC gnomAD |
|
|
RCV001757763 rs765508222 |
1552 | V>I | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1588891897 | 1553 | E>A | No | TOPMed | |
| COSM3825005 | 1553 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750610924 | 1554 | R>K | No |
ExAC gnomAD |
|
| rs959954083 | 1554 | R>S | No | Ensembl | |
| VAR_081135 | 1555 | V>D | No | UniProt | |
| rs2095532191 | 1556 | K>E | No | Ensembl | |
| COSM1327975 | 1558 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4121459 | 1562 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1369001181 | 1566 | L>R | No | gnomAD | |
| COSM6166250 | 1567 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780415593 | 1568 | S>R | No |
ExAC gnomAD |
|
| rs755518481 | 1571 | C>S | No |
ExAC gnomAD |
|
| COSM6166249 | 1571 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs148393849 | 1572 | T>R | No | ESP | |
| rs2095534626 | 1575 | E>G | No | TOPMed | |
| rs781497049 | 1577 | S>R | No |
ExAC gnomAD |
|
| COSM6166248 | 1578 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1430934201 | 1579 | Q>R | No | TOPMed | |
| rs1380887769 | 1580 | S>R | No | gnomAD | |
| rs2095535824 | 1581 | S>P | No | TOPMed | |
| rs35249198 | 1582 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs138842207 | 1582 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs774190348 | 1583 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs1217554626 | 1585 | R>T | No | gnomAD | |
| rs1280229733 | 1586 | G>E | No | TOPMed | |
| rs1265618262 | 1586 | G>R | No | gnomAD | |
| rs1231792979 | 1587 | L>I | No | TOPMed | |
| rs745494927 | 1588 | V>A | No |
ExAC gnomAD |
|
| rs2095538080 | 1590 | E>A | No | gnomAD | |
| rs771802296 | 1593 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs2095538792 | 1595 | V>G | No | TOPMed | |
| rs2154016995 | 1596 | S>R | No | Ensembl | |
| rs1338759894 | 1598 | E>G | No | TOPMed | |
| rs1315052817 | 1599 | E>Q | No |
TOPMed gnomAD |
|
| rs764150279 | 1600 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs2095539459 | 1600 | I>V | No | gnomAD | |
| rs934409093 | 1606 | K>R | No | gnomAD | |
| COSM1426447 | 1607 | A>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1021668614 | 1607 | A>S | No | TOPMed | |
| rs2095540480 | 1608 | P>T | No | TOPMed | |
| COSM6166247 | 1610 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs969090666 | 1610 | E>D | No |
TOPMed gnomAD |
|
| rs2095540829 | 1611 | I>V | No | Ensembl | |
| rs765274871 | 1612 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs750450071 | 1613 | E>D | No |
ExAC gnomAD |
|
| COSM1426448 | 1614 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095542127 | 1616 | C>R | No | Ensembl | |
| rs2095542305 | 1617 | V>L | No |
TOPMed gnomAD |
|
| rs2095542453 | 1618 | E>K | No | TOPMed | |
| rs1313579642 | 1619 | V>I | No | gnomAD | |
| rs1313579642 | 1619 | V>L | No | gnomAD | |
| rs1240984926 | 1620 | R>I | No | gnomAD | |
| rs370097801 | 1621 | I>V | No |
ESP ExAC gnomAD |
|
|
TCGA novel rs2095543353 |
1622 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2095543517 | 1622 | D>V | No | TOPMed | |
|
rs201064116 TCGA novel |
1624 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA 1000Genomes ExAC gnomAD |
| rs751971111 | 1625 | I>M | No |
ExAC TOPMed gnomAD |
|
|
rs886038910 RCV000250766 CA10587581 |
1628 | K>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs2154017686 | 1630 | E>G | No | Ensembl | |
| rs2154017742 | 1632 | D>N | No | Ensembl | |
| COSM1050229 | 1632 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs943636060 | 1634 | T>A | No | Ensembl | |
| rs2095545081 | 1634 | T>I | No | TOPMed | |
| rs748573794 | 1638 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs1176397818 | 1639 | Y>F | No |
TOPMed gnomAD |
|
| rs1486201935 | 1640 | L>F | No | Ensembl | |
| rs756877855 | 1640 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs2095547035 | 1641 | T>I | No | gnomAD | |
| rs745331945 | 1643 | D>V | No |
ExAC gnomAD |
|
| TCGA novel | 1645 | N>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3428067 | 1646 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2095548237 RCV002260852 RCV002337418 |
1647 | C>Y | No |
ClinVar TOPMed dbSNP |
|
| rs2095548904 | 1649 | P>L | No |
TOPMed gnomAD |
|
| rs2095548741 | 1649 | P>S | No | TOPMed | |
| rs1316192195 | 1651 | P>A | No | Ensembl | |
| rs779559603 | 1651 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs1371345494 | 1652 | K>E | No | gnomAD | |
| rs1223387395 | 1653 | E>K | No | gnomAD | |
| rs2095549900 | 1653 | E>V | No | TOPMed | |
| rs2095550565 | 1656 | Q>R | No | Ensembl | |
| rs1313662243 | 1657 | T>I | No | gnomAD | |
| COSM3409010 | 1658 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4939205 | 1658 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095552472 | 1662 | A>G | No | TOPMed | |
| rs2095552638 | 1663 | G>R | No | Ensembl | |
| rs1206234510 | 1666 | C>R | No | gnomAD | |
| rs773280654 | 1666 | C>W | No |
ExAC gnomAD |
|
| rs1426846008 | 1666 | C>Y | No |
TOPMed gnomAD |
|
| rs267599988 | 1667 | E>K | No | Ensembl | |
| rs1274526896 | 1668 | A>V | No |
TOPMed gnomAD |
|
| rs2154018377 | 1669 | L>P | No | Ensembl | |
| rs1429075018 | 1671 | V>G | No | gnomAD | |
| rs2095555019 | 1673 | R>S | No | gnomAD | |
| rs2095555189 | 1674 | S>C | No | TOPMed | |
| COSM254519 | 1676 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1333983188 | 1677 | K>N | No | gnomAD | |
| rs1417534131 | 1677 | K>R | No | TOPMed | |
| rs543920984 | 1678 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs759988022 | 1679 | G>E | No | ExAC | |
| COSM3599257 | 1679 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1267096190 | 1680 | K>E | No | gnomAD | |
| rs770045430 | 1682 | I>V | No | Ensembl | |
| rs756720499 | 1683 | P>A | No |
ExAC gnomAD |
|
| rs778357984 | 1684 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs778357984 | 1684 | P>Q | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1685 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs377215948 | 1686 | E>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs377215948 | 1686 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1687 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4121460 | 1688 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM254518 | 1688 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095558970 | 1690 | T>A | No | Ensembl | |
| rs1436652991 | 1691 | Q>H | No |
TOPMed gnomAD |
|
| rs775642139 | 1691 | Q>R | No | TOPMed | |
| rs1221648486 | 1692 | K>E | No | gnomAD | |
| rs1588902250 | 1694 | H>N | No | gnomAD | |
| rs1588902250 | 1694 | H>Y | No | gnomAD | |
| rs1489702840 | 1697 | S>R | No | gnomAD | |
| rs565088023 | 1697 | S>T | No |
1000Genomes ExAC gnomAD |
|
| rs1588902595 | 1698 | L>W | No | Ensembl | |
| rs1588902685 | 1699 | G>E | No | Ensembl | |
| rs768303169 | 1700 | I>K | No |
ExAC gnomAD |
|
| rs1428974211 | 1701 | K>E | No | gnomAD | |
| rs1428974211 | 1701 | K>Q | No | gnomAD | |
| rs747867539 | 1703 | P>S | No |
ExAC gnomAD |
|
| TCGA novel | 1705 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095561876 | 1706 | R>T | No | TOPMed | |
| COSM3916996 | 1710 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs532551312 | 1710 | E>V | No | 1000Genomes | |
|
CA236546 rs201219746 RCV000171597 |
1712 | Q>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| COSM6166246 | 1713 | K>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1302802252 | 1714 | Q>K | No | gnomAD | |
| rs763090080 | 1716 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs763090080 | 1716 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs759700924 | 1718 | G>S | No |
ExAC gnomAD |
|
| TCGA novel | 1721 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1445963152 | 1722 | S>C | No |
TOPMed gnomAD |
|
| rs891594141 | 1722 | S>R | No |
TOPMed gnomAD |
|
| rs1396790291 | 1728 | L>F | No |
TOPMed gnomAD |
|
| rs1396790291 | 1728 | L>I | No |
TOPMed gnomAD |
|
| rs2095564801 | 1729 | K>* | No |
TOPMed gnomAD |
|
| COSM1426449 | 1731 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4614533 | 1731 | G>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753116668 | 1732 | S>G | No |
ExAC gnomAD |
|
| COSM3599258 | 1733 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs145546655 RCV001776330 |
1738 | G>A | No |
ClinVar ESP ExAC dbSNP gnomAD |
|
| TCGA novel | 1738 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs145546655 | 1738 | G>D | No |
ESP ExAC gnomAD |
|
| rs764765038 | 1739 | E>K | No |
ExAC gnomAD |
|
| rs979042043 | 1740 | D>E | No | TOPMed | |
| rs1455656174 | 1741 | P>L | No | TOPMed | |
| rs2095567085 | 1742 | G>N | No | Ensembl | |
| rs1588905412 | 1742 | G>S | No | Ensembl | |
| rs754363523 | 1742 | G>V | No |
ExAC gnomAD |
|
| rs147706514 | 1744 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| COSM268108 | 1745 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs79883587 | 1746 | E>* | No | Ensembl | |
| rs2154019264 | 1747 | P>S | No | Ensembl | |
| rs1194372734 | 1749 | P>S | No | TOPMed | |
| COSM3428068 | 1749 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1050231 | 1755 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1325692328 | 1761 | T>A | No | gnomAD | |
|
RCV001774889 rs1325692328 |
1761 | T>S | No |
ClinVar dbSNP gnomAD |
|
| COSM6166245 | 1763 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095570252 | 1763 | I>T | No | Ensembl | |
| rs1285919872 | 1763 | I>V | No | gnomAD | |
| rs2154019333 | 1766 | I>L | No | Ensembl | |
| TCGA novel | 1766 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1379861831 | 1767 | K>M | No | gnomAD | |
|
rs1379861831 RCV001714342 |
1767 | K>R | No |
ClinVar dbSNP gnomAD |
|
| COSM4121461 | 1769 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777729937 | 1770 | V>L | No |
ExAC gnomAD |
|
| rs749203822 | 1771 | K>E | No |
ExAC gnomAD |
|
| rs140992864 | 1771 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1282566002 | 1773 | L>F | No |
TOPMed gnomAD |
|
| rs2154019401 | 1775 | K>R | No | 1000Genomes | |
|
COSM5263141 rs2095572224 |
1776 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs775849469 | 1777 | V>E | No | ExAC | |
| rs886059014 | 1777 | V>M | No |
TOPMed gnomAD |
|
| rs2095573262 | 1781 | Q>E | No | Ensembl | |
| rs761162007 | 1783 | G>D | No |
ExAC gnomAD |
|
| COSM1050232 | 1784 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095574036 | 1785 | S>R | No | TOPMed | |
| rs2095574539 | 1788 | P>R | No | Ensembl | |
| rs2095574383 | 1788 | P>S | No | TOPMed | |
| rs2095574963 | 1789 | I>S | No |
TOPMed gnomAD |
|
| rs527462024 | 1789 | I>V | No |
1000Genomes ExAC gnomAD |
|
| rs145715885 | 1790 | R>K | No |
ESP ExAC gnomAD |
|
| rs2154019501 | 1790 | R>S | No | Ensembl | |
|
RCV001759162 rs2154019523 |
1793 | G>missing | No |
ClinVar dbSNP |
|
| rs145589027 | 1793 | G>D | No |
ESP ExAC gnomAD |
|
| rs1397394462 | 1794 | K>N | No | gnomAD | |
| rs777568337 | 1795 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1403803525 | 1795 | E>K | No | gnomAD | |
| rs374140329 | 1796 | D>E | No |
ESP ExAC gnomAD |
|
| rs778853785 | 1797 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs778853785 | 1797 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs2095577614 | 1799 | K>N | No | TOPMed | |
| rs2095577425 | 1799 | K>T | No | Ensembl | |
| rs2095577795 | 1800 | K>M | No | Ensembl | |
| rs951515764 | 1801 | T>P | No | TOPMed | |
| rs775902252 | 1802 | T>I | No |
ExAC gnomAD |
|
| COSM731897 | 1803 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
TCGA novel rs2095578925 |
1804 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs2095579101 | 1804 | R>S | No | Ensembl | |
| TCGA novel | 1807 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs200645469 | 1811 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs765718288 | 1811 | P>L | No |
ExAC gnomAD |
|
| rs1302961889 | 1812 | S>P | No | Ensembl | |
| rs2095580784 | 1813 | L>M | No | Ensembl | |
| rs759013185 | 1814 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs759013185 | 1814 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs766993882 | 1815 | S>A | No |
ExAC gnomAD |
|
| rs766993882 | 1815 | S>P | No |
ExAC gnomAD |
|
| rs1265412167 | 1816 | E>K | No |
TOPMed gnomAD |
|
| rs571144477 | 1817 | R>G | No |
1000Genomes ExAC gnomAD |
|
| rs2095582208 | 1818 | H>R | No | TOPMed | |
| rs753589550 | 1819 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs753589550 | 1819 | A>G | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1819 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1563995914 | 1820 | P>S | No | Ensembl | |
| rs750352813 | 1821 | G>E | No |
ExAC gnomAD |
|
| rs1469205234 | 1822 | S>F | No | gnomAD | |
| rs1331978044 | 1823 | P>L | No | gnomAD | |
|
RCV000058358 rs199473344 CA218796 |
1824 | S>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| rs750346186 | 1825 | P>A | No | Ensembl | |
| rs1563996310 | 1825 | P>R | No | Ensembl | |
| rs750346186 | 1825 | P>S | No | Ensembl | |
| COSM6166244 | 1825 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs760692285 | 1828 | E>G | No |
ExAC gnomAD |
|
| rs1022291817 | 1828 | E>K | No | Ensembl | |
| rs2095585488 | 1829 | R>S | No | TOPMed | |
| rs770168392 | 1830 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs748530855 | 1830 | H>Y | No |
ExAC TOPMed gnomAD |
|
|
RCV001755519 RCV002343842 rs1259276813 |
1831 | S>F | No |
ClinVar dbSNP gnomAD |
|
| TCGA novel | 1833 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1563996737 | 1834 | S>P | No | Ensembl | |
| rs771387989 | 1835 | S>F | No |
ExAC gnomAD |
|
| rs1476713131 | 1839 | T>N | No |
TOPMed gnomAD |
|
| rs148234093 | 1841 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs891749506 | 1842 | H>P | No | TOPMed | |
| rs2095588794 | 1842 | H>Q | No | TOPMed | |
| rs891749506 | 1842 | H>R | No | TOPMed | |
| rs1554552558 | 1842 | H>Y | No | Ensembl | |
| rs761560238 | 1843 | P>S | No |
ExAC gnomAD |
|
| rs1460453400 | 1844 | P>S | No | gnomAD | |
| rs1563997337 | 1846 | S>L | No |
TOPMed gnomAD |
|
| rs765102163 | 1846 | S>P | No |
ExAC gnomAD |
|
|
COSM1633422 rs1406342886 |
1847 | P>S | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2095590693 | 1848 | S>P | No |
TOPMed gnomAD |
|
| rs1343954893 | 1850 | K>E | No | gnomAD | |
|
COSM39835 rs376085805 |
1851 | T>I | central_nervous_system [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 1851 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1309635 | 1852 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs758410989 | 1853 | K>E | No | ExAC | |
| rs2095591795 | 1853 | K>R | No |
TOPMed gnomAD |
|
| rs751745297 | 1856 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs2095592739 | 1857 | V>L | No | TOPMed | |
| rs200975354 | 1858 | S>* | No | Ensembl | |
| rs200337552 | 1858 | S>T | No | Ensembl | |
| rs781312863 | 1859 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1194098368 | 1860 | S>P | No | gnomAD | |
| rs2095595387 | 1862 | K>E | No | Ensembl | |
| rs2095595952 | 1864 | E>K | No | TOPMed | |
| rs920242203 | 1865 | R>G | No | Ensembl | |
| TCGA novel | 1865 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1368500978 | 1865 | R>S | No | gnomAD | |
| rs1192411515 | 1865 | R>T | No | gnomAD | |
| COSM3599259 | 1867 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1050233 | 1868 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs930893597 | 1868 | P>S | No |
TOPMed gnomAD |
|
| rs983680857 | 1869 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
rs775953030 COSM1309636 |
1872 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs750242540 | 1875 | T>P | No |
ExAC gnomAD |
|
| rs1358989979 | 1876 | E>G | No | gnomAD | |
| rs1554553071 | 1876 | E>Q | No | TOPMed | |
| rs1463220816 | 1877 | K>N | No |
TOPMed gnomAD |
|
| rs2095600152 | 1878 | H>Y | No | Ensembl | |
| COSM3599260 | 1879 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1880 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095600855 | 1880 | P>R | No | gnomAD | |
| rs1262224136 | 1880 | P>T | No |
TOPMed gnomAD |
|
| COSM116173 | 1882 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1204413915 | 1883 | P>S | No |
TOPMed gnomAD |
|
| rs1204413915 | 1883 | P>T | No |
TOPMed gnomAD |
|
| TCGA novel | 1888 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1181214672 | 1888 | E>K | No | gnomAD | |
|
RCV001592458 rs2154020406 |
1889 | R>G | No |
ClinVar Ensembl dbSNP |
|
| rs1588919365 | 1889 | R>K | No |
TOPMed gnomAD |
|
| rs751507915 | 1890 | H>L | No |
ExAC gnomAD |
|
| rs2095603051 | 1891 | S>C | No | Ensembl | |
| COSM3599261 | 1891 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs374602818 | 1892 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2095603402 | 1893 | V>M | No |
TOPMed gnomAD |
|
| rs2095603733 | 1894 | S>L | No | TOPMed | |
| rs767662891 | 1898 | T>P | No |
ExAC gnomAD |
|
| rs1347275463 | 1899 | E>G | No | gnomAD | |
| rs752683548 | 1900 | R>G | No |
ExAC gnomAD |
|
| rs866801693 | 1900 | R>K | No | Ensembl | |
| rs756365204 | 1901 | H>Q | No |
ExAC gnomAD |
|
| rs1452084441 | 1901 | H>R | No | gnomAD | |
| rs1407457245 | 1902 | P>Q | No | gnomAD | |
| rs2154020494 | 1902 | P>T | No | Ensembl | |
| rs895259414 | 1903 | P>S | No | gnomAD | |
| rs895259414 | 1903 | P>T | No | gnomAD | |
| rs777799981 | 1904 | V>F | No |
ExAC TOPMed gnomAD |
|
| COSM6166243 | 1905 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs368566123 | 1905 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1044124247 | 1906 | P>A | No |
TOPMed gnomAD |
|
| COSM3916997 | 1906 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs779443815 | 1907 | S>T | No |
ExAC gnomAD |
|
| rs2095606484 | 1908 | G>D | No | Ensembl | |
| rs868828587 | 1909 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs746394404 | 1910 | T>I | No |
ExAC gnomAD |
|
| rs772418116 | 1911 | D>N | No |
ExAC gnomAD |
|
| rs2095607309 | 1912 | K>I | No | gnomAD | |
| rs1480689138 | 1913 | R>P | No |
TOPMed gnomAD |
|
| rs1717005319 | 1915 | P>L | No | gnomAD | |
| rs2154020601 | 1915 | P>S | No | Ensembl | |
| rs1418205556 | 1916 | V>A | No | gnomAD | |
| rs1405357819 | 1916 | V>L | No |
TOPMed gnomAD |
|
| rs200929000 | 1917 | S>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs772992761 | 1919 | S>Y | No |
ExAC TOPMed gnomAD |
|
| rs2095609857 | 1921 | R>G | No | gnomAD | |
| rs1371454689 | 1922 | T>A | No |
TOPMed gnomAD |
|
| rs767293867 | 1923 | E>G | No |
ExAC gnomAD |
|
| rs201599166 | 1923 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs1031519659 | 1924 | K>E | No |
TOPMed gnomAD |
|
| rs752837286 | 1924 | K>N | No |
ExAC gnomAD |
|
| rs199703727 | 1925 | H>P | No |
ExAC gnomAD |
|
| rs1564001125 | 1926 | P>T | No | Ensembl | |
| TCGA novel | 1927 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1164410118 | 1928 | V>A | No | Ensembl | |
|
TCGA novel rs780408473 |
1931 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC TOPMed gnomAD |
| rs747756646 | 1934 | E>G | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1934 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs747756646 | 1934 | E>V | No |
ExAC TOPMed gnomAD |
|
| COSM4450390 | 1935 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs201325557 | 1936 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs773045751 | 1936 | R>H | No |
ExAC gnomAD |
|
| rs773045751 | 1936 | R>L | No |
ExAC gnomAD |
|
|
CA236549 RCV000171598 rs201325557 |
1936 | R>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs770671784 | 1937 | L>F | No |
ExAC gnomAD |
|
| rs867717796 | 1938 | P>L | No | Ensembl | |
| rs577166271 | 1938 | P>T | No |
1000Genomes ExAC gnomAD |
|
|
TCGA novel rs759195568 |
1939 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
| rs1352890626 | 1940 | S>T | No | gnomAD | |
| rs2095615201 | 1941 | P>H | No | Ensembl | |
| rs1588925029 | 1941 | P>S | No | Ensembl | |
| rs764180060 | 1943 | G>E | No |
ExAC gnomAD |
|
|
rs367592943 RCV000171599 CA236552 COSM447258 |
1943 | G>R | Variant assessed as Somatic; MODERATE impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| TCGA novel | 1943 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762027070 | 1945 | T>K | No |
ExAC TOPMed gnomAD |
|
|
COSM176171 rs762027070 |
1945 | T>M | ovary Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs762027070 | 1945 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs200333546 | 1946 | D>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1304791828 | 1947 | K>E | No | Ensembl | |
| rs758680948 | 1948 | H>P | No |
ExAC gnomAD |
|
| rs1241451043 | 1950 | P>H | No |
TOPMed gnomAD |
|
| rs1241451043 | 1950 | P>L | No |
TOPMed gnomAD |
|
| rs755466620 | 1950 | P>S | No |
ExAC gnomAD |
|
| rs145358906 | 1951 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs201685739 | 1951 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2095618921 | 1952 | S>P | No | TOPMed | |
| rs371556220 | 1954 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1018727770 | 1958 | E>K | No | Ensembl | |
| rs745743599 | 1960 | H>P | No |
ExAC gnomAD |
|
| rs775547971 | 1963 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs775547971 | 1963 | V>G | No |
ExAC TOPMed gnomAD |
|
| rs771735662 | 1963 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs771735662 | 1963 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1367664024 | 1964 | S>L | No | gnomAD | |
| rs1302267440 | 1966 | S>F | No | gnomAD | |
| COSM6099103 | 1967 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2154021065 | 1967 | G>C | No | 1000Genomes | |
|
COSM480771 rs148760530 |
1969 | T>I | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2095621702 | 1970 | E>G | No | TOPMed | |
| TCGA novel | 1970 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs377154409 | 1971 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs2154021095 | 1972 | Q>H | No | Ensembl | |
| rs761867742 | 1972 | Q>K | No |
ExAC gnomAD |
|
|
rs1316622536 COSM201685 |
1973 | P>S | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA gnomAD |
| rs1320080856 | 1974 | P>S | No | TOPMed | |
| rs765506339 | 1975 | V>I | No |
ExAC gnomAD |
|
|
RCV001757789 rs1447972755 |
1976 | S>C | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1218471695 | 1977 | P>S | No |
TOPMed gnomAD |
|
| rs778592551 | 1980 | K>* | No | Ensembl | |
| rs778592551 | 1980 | K>Q | No | Ensembl | |
|
COSM1618298 rs549604601 |
1983 | R>G | liver [Cosmic] | No |
cosmic curated 1000Genomes ExAC gnomAD |
| rs751915981 | 1984 | I>T | No |
ExAC gnomAD |
|
| rs2095625124 | 1985 | E>V | No |
TOPMed gnomAD |
|
| rs1425261361 | 1987 | T>A | No | TOPMed | |
| rs2095625815 | 1987 | T>I | No | gnomAD | |
| rs1190219144 | 1988 | M>I | No | TOPMed | |
| rs2095625982 | 1988 | M>L | No | TOPMed | |
| rs1564003685 | 1989 | S>A | No | Ensembl | |
| rs2095626564 | 1989 | S>F | No | TOPMed | |
| rs1564003685 | 1989 | S>T | No | Ensembl | |
| rs753457276 | 1994 | M>V | No |
ExAC gnomAD |
|
| rs1316032951 | 1995 | K>R | No | gnomAD | |
| rs1363542531 | 1998 | Q>H | No | gnomAD | |
| COSM6166241 | 2000 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs745488125 | 2001 | Q>E | No |
ExAC gnomAD |
|
| rs2095628982 | 2001 | Q>H | No | Ensembl | |
| rs771713785 | 2002 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs2095629489 | 2004 | S>T | No | TOPMed | |
| rs150372845 | 2006 | H>N | No | TOPMed | |
| rs150372845 | 2006 | H>Y | No | TOPMed | |
| TCGA novel | 2007 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095630295 | 2008 | T>A | No | TOPMed | |
| rs779717396 | 2009 | G>R | No |
ExAC gnomAD |
|
| rs368546365 | 2009 | G>V | No |
ESP ExAC TOPMed |
|
| rs879114967 | 2010 | L>V | No | Ensembl | |
| rs1564004577 | 2012 | E>G | No | Ensembl | |
| rs776542014 | 2013 | H>Q | No |
ExAC gnomAD |
|
| rs1300705008 | 2014 | K>Q | No |
TOPMed gnomAD |
|
| rs1588932604 | 2014 | K>T | No | TOPMed | |
| rs769840245 | 2016 | A>E | No | ExAC | |
| rs76778190 | 2018 | Q>K | No | Ensembl | |
|
CA236555 rs199614634 RCV000171600 |
2019 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs773291284 | 2019 | K>M | No |
ExAC TOPMed |
|
| rs201005444 | 2019 | K>N | No |
ExAC gnomAD |
|
| rs773291284 | 2019 | K>T | No |
ExAC TOPMed |
|
| rs1204913903 | 2020 | Q>R | No | gnomAD | |
| rs766559350 | 2022 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs1187033719 | 2023 | E>* | No | gnomAD | |
| rs939580030 | 2023 | E>D | No | gnomAD | |
| rs2095635117 | 2023 | E>G | No | TOPMed | |
| rs1187033719 | 2023 | E>K | No | gnomAD | |
| rs768206554 | 2028 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM256302 rs1411026310 |
2028 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs904315874 | 2030 | E>G | No |
TOPMed gnomAD |
|
| rs1226590997 | 2030 | E>Q | No | gnomAD | |
| TCGA novel | 2032 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756877862 | 2033 | K>E | No |
ExAC gnomAD |
|
| rs749880601 | 2034 | G>E | No |
ExAC gnomAD |
|
| rs895926386 | 2036 | I>L | No |
TOPMed gnomAD |
|
| rs746846425 | 2036 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs2095639261 | 2036 | I>T | No | Ensembl | |
| rs2095639705 | 2037 | L>I | No | gnomAD | |
| rs2095639898 | 2039 | Q>H | No | TOPMed | |
| rs781153402 | 2041 | E>D | No |
ExAC gnomAD |
|
| COSM3599263 | 2043 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2154021683 | 2045 | T>P | No | Ensembl | |
| rs375151747 | 2046 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs2095640945 | 2046 | E>K | No | gnomAD | |
| rs769677208 | 2048 | Q>E | No |
ExAC gnomAD |
|
| rs1427093106 | 2050 | I>V | No | gnomAD | |
|
COSM1182770 rs1465539150 |
2052 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs2095643010 | 2052 | R>Q | No | gnomAD | |
| rs2095643319 | 2053 | G>S | No | Ensembl | |
| rs774629377 | 2054 | Q>R | No |
ExAC gnomAD |
|
| rs112242428 | 2055 | R>G | No | TOPMed | |
| rs760019211 | 2056 | L>F | No |
ExAC gnomAD |
|
| rs760019211 | 2056 | L>I | No |
ExAC gnomAD |
|
| rs2095644839 | 2058 | V>A | No | Ensembl | |
| rs1285660301 | 2058 | V>I | No | gnomAD | |
| rs1008736554 | 2060 | G>D | No | gnomAD | |
| rs2095645315 | 2060 | G>S | No | TOPMed | |
| rs749959288 | 2062 | A>S | No |
ExAC gnomAD |
|
| rs1194235291 | 2062 | A>V | No |
TOPMed gnomAD |
|
| TCGA novel | 2063 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs192761999 | 2064 | S>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1339532356 | 2064 | S>Y | No | TOPMed | |
| rs765983541 | 2065 | K>R | No |
ExAC gnomAD |
|
| rs964212978 | 2066 | R>G | No |
TOPMed gnomAD |
|
| rs751187451 | 2067 | G>R | No |
ExAC gnomAD |
|
|
RCV002359180 COSM1426452 rs754572911 RCV001565411 |
2069 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs756022108 | 2070 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs996342407 | 2072 | S>A | No |
TOPMed gnomAD |
|
| TCGA novel | 2072 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749398563 | 2073 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs1421884505 | 2073 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| COSM4121465 | 2074 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1588940425 | 2075 | V>I | No | Ensembl | |
| rs779053892 | 2077 | K>E | No |
ExAC gnomAD |
|
| rs779053892 | 2077 | K>Q | No |
ExAC gnomAD |
|
| rs746116809 | 2080 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs1297050203 | 2081 | A>D | No | gnomAD | |
| rs1588940847 | 2082 | G>E | No | Ensembl | |
| rs138601687 | 2083 | G>R | No |
ESP TOPMed |
|
| COSM1050235 | 2084 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 2085 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2088 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs2095650837 |
2088 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs772386277 | 2088 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs558761932 | 2090 | H>R | No |
1000Genomes ExAC gnomAD |
|
| rs1488054471 | 2091 | K>R | No | gnomAD | |
|
COSM265996 rs1588941407 |
2092 | I>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| COSM447259 | 2094 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095652154 | 2095 | P>A | No | Ensembl | |
| rs769109275 | 2099 | V>G | No |
ExAC gnomAD |
|
| rs577303232 | 2100 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
| rs2095652959 | 2102 | E>K | No | TOPMed | |
| rs1385370227 | 2104 | S>N | No | gnomAD | |
| rs1385370227 | 2104 | S>T | No | gnomAD | |
| rs1457345261 | 2105 | H>N | No | gnomAD | |
| COSM1567051 | 2106 | R>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs759190409 | 2109 | E>D | No |
ExAC gnomAD |
|
| rs751026615 | 2109 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1387779012 | 2111 | P>L | No | gnomAD | |
| rs1319950461 | 2112 | K>R | No | gnomAD | |
| rs1383652713 | 2114 | K>N | No | gnomAD | |
| rs755937456 | 2117 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs2095655495 | 2117 | D>G | No | Ensembl | |
| rs777615903 | 2118 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs2095656136 | 2119 | Q>H | No | TOPMed | |
| rs2095655986 | 2119 | Q>R | No | Ensembl | |
| rs753792956 | 2120 | G>E | No |
ExAC gnomAD |
|
| TCGA novel | 2120 | G>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757095043 | 2121 | D>N | No |
ExAC gnomAD |
|
| rs772479237 | 2123 | D>N | No |
ExAC gnomAD |
|
| rs780418271 | 2125 | Q>R | No |
ExAC TOPMed gnomAD |
|
| COSM3599264 | 2128 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1255026715 | 2129 | D>H | No | gnomAD | |
| rs1255026715 | 2129 | D>N | No | gnomAD | |
| rs1276905342 | 2130 | R>G | No | gnomAD | |
| rs769038996 | 2130 | R>K | No |
ExAC gnomAD |
|
| rs776808389 | 2132 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs1198189930 | 2132 | T>P | No |
TOPMed gnomAD |
|
| COSM6166240 | 2134 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs762411338 | 2134 | T>S | No |
ExAC gnomAD |
|
| rs1322169389 | 2140 | I>T | No |
TOPMed gnomAD |
|
| rs2095659239 | 2140 | I>V | No | Ensembl | |
| rs1311919002 | 2143 | E>K | No |
TOPMed gnomAD |
|
| rs1564009417 | 2145 | E>K | No | Ensembl | |
| rs1564009417 | 2145 | E>Q | No | Ensembl | |
| rs1588944889 | 2146 | D>G | No | Ensembl | |
| rs2095660090 | 2146 | D>N | No | TOPMed | |
| rs1454662843 | 2147 | N>S | No |
TOPMed gnomAD |
|
| rs1564009622 | 2148 | D>G | No | Ensembl | |
| rs2095661256 | 2149 | K>R | No | TOPMed | |
| rs2095661407 | 2151 | Q>E | No | TOPMed | |
| rs767226942 | 2154 | R>C | No |
ExAC gnomAD |
|
| rs760436503 | 2156 | S>N | No |
ExAC gnomAD |
|
| rs1227639389 | 2156 | S>R | No |
TOPMed gnomAD |
|
| rs1325651746 | 2158 | E>A | No | gnomAD | |
| rs753538076 | 2159 | T>I | No |
ExAC gnomAD |
|
| rs1588945979 | 2161 | K>T | No | Ensembl | |
| rs2154022542 | 2162 | A>E | No | Ensembl | |
| rs2154022542 | 2162 | A>V | No | Ensembl | |
| rs866456558 | 2164 | L>F | No | Ensembl | |
| rs757225372 | 2165 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs1480743772 | 2165 | H>Y | No | gnomAD | |
| rs1218847128 | 2167 | D>N | No | gnomAD | |
| TCGA novel | 2167 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095663982 | 2168 | Q>P | No | gnomAD | |
| rs1471818752 | 2169 | V>A | No | gnomAD | |
| rs149292242 | 2169 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2154022609 | 2170 | L>V | No | Ensembl | |
| rs2095664675 | 2171 | T>S | No | gnomAD | |
| rs746071976 | 2171 | T>S | No | Ensembl | |
| rs750597474 | 2175 | N>S | No |
ExAC gnomAD |
|
| rs199825993 | 2176 | T>A | No |
1000Genomes ExAC gnomAD |
|
| rs2095665936 | 2177 | T>A | No |
TOPMed gnomAD |
|
| rs2095666104 | 2177 | T>I | No | TOPMed | |
|
rs200115726 RCV000171601 CA236558 |
2178 | F>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1358677399 | 2179 | P>A | No |
TOPMed gnomAD |
|
| rs1368254484 | 2179 | P>L | No |
TOPMed gnomAD |
|
| rs60228337 | 2181 | D>E | No | ESP | |
| rs770347161 | 2181 | D>G | No |
ExAC gnomAD |
|
|
rs552900652 RCV002273498 |
2181 | D>N | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| COSM6166239 | 2183 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1283759975 | 2185 | D>G | No |
TOPMed gnomAD |
|
| COSM6099102 | 2186 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs745422554 | 2186 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs745422554 | 2186 | E>Q | No |
ExAC TOPMed gnomAD |
|
|
rs771549067 COSM4121466 |
2187 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1588948506 | 2189 | P>L | No | Ensembl | |
| rs574500888 | 2190 | A>S | No |
1000Genomes ExAC gnomAD |
|
| rs1272061566 | 2190 | A>V | No | gnomAD | |
| rs1588948782 | 2192 | S>C | No | Ensembl | |
| rs969552950 | 2196 | G>D | No |
TOPMed gnomAD |
|
| rs969552950 | 2196 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2095671001 | 2197 | A>G | No | Ensembl | |
| rs2095670835 | 2197 | A>S | No | TOPMed | |
| rs2095671173 | 2198 | L>I | No | Ensembl | |
| rs2095671332 | 2198 | L>S | No | Ensembl | |
| rs2095671488 | 2199 | D>N | No |
TOPMed gnomAD |
|
| rs1264653409 | 2200 | G>D | No |
TOPMed gnomAD |
|
| rs1190011485 | 2200 | G>S | No | gnomAD | |
|
RCV000779702 rs201717651 |
2201 | S>G | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1429210825 | 2202 | S>F | No |
TOPMed gnomAD |
|
| rs2095672351 | 2203 | E>D | No | Ensembl | |
| rs1309949862 | 2204 | S>G | No |
TOPMed gnomAD |
|
| rs2095672796 | 2204 | S>N | No | Ensembl | |
| rs765302693 | 2204 | S>R | No |
ExAC gnomAD |
|
| rs750360460 | 2205 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs576132485 | 2206 | K>Q | No |
1000Genomes ExAC gnomAD |
|
| rs751525740 | 2207 | N>S | No |
ExAC gnomAD |
|
| rs2095674287 | 2208 | E>K | No | gnomAD | |
| rs2095674696 | 2209 | G>R | No | TOPMed | |
| rs886038889 | 2210 | V>A | No | gnomAD | |
|
RCV000247941 CA10587582 rs886038889 |
2210 | V>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs370296970 | 2210 | V>I | No | TOPMed | |
| rs61734478 | 2212 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs749821485 | 2213 | S>F | No |
ExAC gnomAD |
|
| COSM3599265 | 2214 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3775490 | 2214 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs746448129 | 2216 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs1588951163 | 2217 | S>G | No | Ensembl | |
| rs776114267 | 2217 | S>N | No |
ExAC gnomAD |
|
| rs2095678526 | 2218 | L>V | No | gnomAD | |
| COSM6166238 | 2219 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1190555350 | 2221 | G>W | No |
TOPMed gnomAD |
|
| rs1385810239 | 2222 | T>N | No | gnomAD | |
| rs2095679471 | 2222 | T>P | No | TOPMed | |
| rs1415611619 | 2223 | P>L | No | gnomAD | |
| rs1415611619 | 2223 | P>R | No | gnomAD | |
| rs762987114 | 2223 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA |
| rs912526751 | 2225 | I>V | No | gnomAD | |
| rs766360388 | 2226 | S>T | No |
ExAC gnomAD |
|
| rs2095681693 | 2231 | Y>C | No | Ensembl | |
| rs2154023115 | 2231 | Y>H | No | Ensembl | |
| TCGA novel | 2234 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2235 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1644463303 | 2235 | G>D | No | Ensembl | |
| rs755009874 | 2237 | A>G | No |
ExAC gnomAD |
|
| rs755009874 | 2237 | A>V | No |
ExAC gnomAD |
|
| rs752841046 | 2240 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs2095684061 | 2241 | E>K | No | Ensembl | |
| rs754138864 | 2243 | S>R | No |
ExAC gnomAD |
|
| rs368545726 | 2244 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1464506112 | 2246 | S>N | No |
TOPMed gnomAD |
|
| rs1352500725 | 2246 | S>R | No | gnomAD | |
| rs1464506112 | 2246 | S>T | No |
TOPMed gnomAD |
|
| rs779281208 | 2247 | L>F | No |
ExAC gnomAD |
|
| TCGA novel | 2247 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779281208 | 2247 | L>V | No |
ExAC gnomAD |
|
| rs1049367287 | 2250 | S>L | No | Ensembl | |
| rs1471972343 | 2251 | P>A | No | gnomAD | |
| rs1162401327 | 2251 | P>R | No | gnomAD | |
| rs1471972343 | 2251 | P>S | No | gnomAD | |
| rs2095687146 | 2252 | K>N | No | gnomAD | |
| TCGA novel | 2253 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1564013615 | 2254 | S>C | No | Ensembl | |
| rs1408503954 | 2255 | E>A | No | gnomAD | |
| rs768025908 | 2256 | E>D | No |
ExAC gnomAD |
|
| rs1387199656 | 2258 | T>I | No | gnomAD | |
| rs769504090 | 2259 | G>E | No |
ExAC gnomAD |
|
| rs773152395 | 2261 | T>I | No |
ExAC gnomAD |
|
| rs773152395 | 2261 | T>K | No |
ExAC gnomAD |
|
| TCGA novel | 2263 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1446892958 | 2265 | T>A | No | gnomAD | |
| rs1283917545 | 2265 | T>I | No | gnomAD | |
| rs1374552321 | 2266 | K>E | No | gnomAD | |
| rs1204382947 | 2269 | T>A | No | gnomAD | |
| rs767516468 | 2271 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs767516468 | 2271 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs1187135604 | 2273 | I>V | No | gnomAD | |
| rs780257265 | 2274 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs140258681 | 2274 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs866483486 | 2275 | S>L | No |
TOPMed gnomAD |
|
| rs2095692511 | 2276 | E>G | No |
TOPMed gnomAD |
|
|
rs144109953 RCV000444329 CA3051480 |
2277 | K>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs925872525 | 2278 | E>A | No |
TOPMed gnomAD |
|
| rs1376116147 | 2279 | H>R | No | TOPMed | |
| COSM6166237 | 2280 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs757584252 | 2281 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs2154023444 | 2282 | T>A | No | Ensembl | |
| rs1329138089 | 2282 | T>N | No | gnomAD | |
| rs960338217 | 2283 | K>E | No | Ensembl | |
| rs960338217 | 2283 | K>Q | No | Ensembl | |
| rs2095694996 | 2284 | D>V | No | TOPMed | |
| rs1478641697 | 2285 | I>V | No |
TOPMed gnomAD |
|
| rs1286919756 | 2290 | E>D | No | gnomAD | |
| rs2095695900 | 2292 | R>* | No | TOPMed | |
| rs776469600 | 2293 | G>D | No |
ExAC TOPMed gnomAD |
|
|
CA3051487 RCV000586051 rs776469600 |
2293 | G>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2095696591 | 2294 | A>T | No | TOPMed | |
| rs1342966793 | 2297 | T>I | No | gnomAD | |
| TCGA novel | 2297 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769627306 | 2299 | D>G | No |
ExAC gnomAD |
|
| rs1219043364 | 2300 | S>P | No |
TOPMed gnomAD |
|
| rs777561691 | 2301 | E>K | No |
ExAC gnomAD |
|
| rs1343749998 | 2302 | T>N | No |
TOPMed gnomAD |
|
| rs2154023571 | 2305 | E>G | No | Ensembl | |
| rs925410179 | 2306 | S>N | No | Ensembl | |
| rs1480692189 | 2307 | F>L | No | gnomAD | |
| rs774148097 | 2307 | F>S | No |
ExAC gnomAD |
|
| rs1200947094 | 2309 | K>E | No | gnomAD | |
| rs2095700163 | 2310 | E>K | No | gnomAD | |
| rs771983465 | 2312 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs771983465 | 2312 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs760733468 | 2314 | G>A | No |
ExAC gnomAD |
|
| COSM6099101 | 2314 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1564015817 | 2315 | S>C | No | Ensembl | |
| rs1370359468 | 2316 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs754034649 | 2316 | P>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 2317 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs956792927 | 2318 | D>G | No | Ensembl | |
| rs2095702383 | 2319 | T>A | No | Ensembl | |
| rs762042163 | 2319 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs765547888 | 2320 | S>I | No |
ExAC gnomAD |
|
| rs2154023671 | 2321 | P>T | No | Ensembl | |
| rs750731818 | 2322 | K>R | No |
ExAC gnomAD |
|
| rs758842014 | 2324 | Q>K | No | ExAC | |
| rs752319494 | 2325 | D>G | No |
ExAC TOPMed gnomAD |
|
|
RCV001757471 rs752319494 |
2325 | D>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1226486660 | 2326 | D>N | No | gnomAD | |
| rs777618921 | 2326 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs1226486660 | 2326 | D>Y | No | gnomAD | |
| rs2095704807 | 2327 | C>Y | No | gnomAD | |
| rs941371071 | 2328 | T>A | No | TOPMed | |
|
CA16604667 RCV000437614 rs941371071 |
2328 | T>P | No |
ClinGen ClinVar TOPMed dbSNP |
|
| TCGA novel | 2329 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1451035934 | 2333 | V>G | No | gnomAD | |
| rs756893923 | 2333 | V>L | No |
ExAC gnomAD |
|
| rs1564016699 | 2336 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs745622906 | 2337 | K>Q | No |
ExAC gnomAD |
|
| rs771964590 | 2338 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs2095706869 | 2338 | E>K | No | TOPMed | |
| rs1167609552 | 2339 | T>I | No | gnomAD | |
| rs1173020080 | 2340 | P>T | No | Ensembl | |
| TCGA novel | 2341 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768742426 | 2343 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs776648458 | 2345 | E>A | No |
ExAC gnomAD |
|
| rs765442559 | 2346 | E>Q | No |
ExAC gnomAD |
|
| rs1040092131 | 2347 | A>G | No | Ensembl | |
| rs773506777 | 2347 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1466354397 | 2348 | A>S | No |
TOPMed gnomAD |
|
|
COSM1426453 rs1297163090 |
2348 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA gnomAD |
| rs1322617744 | 2349 | C>R | No | gnomAD | |
| rs763369834 | 2350 | D>H | No |
ExAC TOPMed |
|
| rs2095710499 | 2351 | E>D | No | TOPMed | |
| COSM5995485 | 2352 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095710690 | 2352 | G>S | No | Ensembl | |
| rs139616911 | 2354 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs376538574 | 2355 | T>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs778618824 | 2357 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs778618824 | 2357 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs2095712436 | 2359 | S>* | No | TOPMed | |
| COSM3007113 | 2359 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1425229183 | 2361 | H>Y | No | gnomAD | |
| rs760096507 | 2362 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs779773337 | 2363 | T>I | No |
ExAC gnomAD |
|
| TCGA novel | 2364 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1455702684 | 2367 | S>N | No |
TOPMed gnomAD |
|
| rs1455702684 | 2367 | S>T | No |
TOPMed gnomAD |
|
| rs1358987002 | 2370 | Q>R | No | TOPMed | |
| rs1339691326 | 2371 | E>G | No | gnomAD | |
| rs774123544 | 2372 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1327072432 | 2375 | T>I | No | gnomAD | |
| rs553324580 | 2377 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1256125078 | 2377 | D>N | No |
TOPMed gnomAD |
|
| rs1254422296 | 2379 | T>A | No | gnomAD | |
| rs761384120 | 2380 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs764841248 | 2381 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1554558808 | 2385 | P>L | No | Ensembl | |
| rs781642042 | 2387 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs781642042 | 2387 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1401163801 | 2389 | V>L | No |
TOPMed gnomAD |
|
| rs1348531453 | 2391 | T>I | No |
TOPMed gnomAD |
|
| rs1348531453 | 2391 | T>R | No |
TOPMed gnomAD |
|
| rs866603725 | 2392 | D>N | No | Ensembl | |
| rs2154024184 | 2394 | G>* | No | Ensembl | |
| rs774869878 | 2395 | T>I | No |
ExAC TOPMed gnomAD |
|
| COSM6099100 | 2397 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs941470798 | 2397 | S>T | No | TOPMed | |
| rs1255040271 | 2398 | K>T | No | gnomAD | |
| rs1483218772 | 2399 | P>L | No |
TOPMed gnomAD |
|
|
rs1206278894 COSM1694843 |
2401 | G>E | skin [Cosmic] | No |
cosmic curated gnomAD |
|
RCV000058359 rs199473345 CA218799 |
2402 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1254482682 | 2402 | V>F | No | gnomAD | |
| rs965843996 | 2403 | I>V | No |
TOPMed gnomAD |
|
| rs181064820 | 2404 | R>S | No |
1000Genomes ExAC gnomAD |
|
| rs1588967888 | 2407 | Q>P | No | Ensembl | |
| rs761282106 | 2408 | G>E | No | ExAC | |
|
rs1425883025 COSM3660848 |
2408 | G>R | liver [Cosmic] | No |
cosmic curated gnomAD |
| rs761282106 | 2408 | G>V | No | ExAC | |
| COSM1495673 | 2410 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764831534 | 2410 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1174128238 | 2411 | L>F | No |
TOPMed gnomAD |
|
|
rs2154024316 RCV001757293 |
2412 | A>E | No |
ClinVar Ensembl dbSNP |
|
|
rs2095729677 COSM4155115 |
2414 | P>S | kidney [Cosmic] | No |
cosmic curated TOPMed |
| rs762603334 | 2415 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs2095731975 | 2418 | S>N | No | TOPMed | |
| rs752704424 | 2419 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs2095733142 | 2420 | V>A | No | TOPMed | |
| rs2095732892 | 2420 | V>I | No | Ensembl | |
| rs755966886 | 2421 | L>F | No |
ExAC TOPMed gnomAD |
|
|
RCV000523874 CA357929961 rs755966886 |
2421 | L>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| COSM731891 | 2422 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs3733616 | 2423 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs552602982 | 2426 | D>E | No |
1000Genomes ExAC gnomAD |
|
| rs1000328456 | 2426 | D>V | No | Ensembl | |
| rs2154024440 | 2426 | D>Y | No | Ensembl | |
| rs1204372364 | 2428 | S>P | No |
TOPMed gnomAD |
|
| rs373320489 | 2430 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2431 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1288781011 | 2431 | V>L | No | Ensembl | |
| rs2154024482 | 2433 | H>Y | No | Ensembl | |
| rs2095735725 | 2434 | K>R | No | TOPMed | |
| TCGA novel | 2437 | L>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs377472052 | 2437 | L>P | No |
ESP TOPMed |
|
| rs1394580006 | 2438 | E>K | No | gnomAD | |
| COSM4121469 | 2439 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1050238 | 2441 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772833326 | 2441 | P>T | No |
ExAC gnomAD |
|
| rs762444844 | 2444 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1044740262 | 2446 | N>D | No | Ensembl | |
|
COSM3993402 rs2095739381 |
2449 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs759139031 | 2449 | H>Y | No |
ExAC gnomAD |
|
| rs1588970886 | 2451 | T>A | No | TOPMed | |
|
rs767378792 COSM3599267 |
2451 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1588970886 | 2451 | T>P | No | TOPMed | |
| rs752370736 | 2452 | P>T | No |
ExAC gnomAD |
|
| rs756091403 | 2453 | D>G | No |
ExAC gnomAD |
|
| TCGA novel | 2453 | D>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1436744475 | 2454 | S>F | No | gnomAD | |
| rs2095741311 | 2456 | E>G | No | gnomAD | |
|
COSM1694844 CA103815158 RCV000498877 rs370950144 |
2457 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP TOPMed dbSNP |
|
RCV002386541 rs1294965906 RCV001755262 |
2460 | L>P | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1435482127 | 2462 | E>* | No |
TOPMed gnomAD |
|
| rs1435482127 | 2462 | E>K | No |
TOPMed gnomAD |
|
| rs2095742714 | 2463 | S>C | No | Ensembl | |
| rs1341093772 | 2463 | S>T | No |
TOPMed gnomAD |
|
| rs2095742907 | 2464 | P>S | No | Ensembl | |
| rs892703497 | 2467 | D>G | No | Ensembl | |
| rs1220044464 | 2468 | S>C | No |
TOPMed gnomAD |
|
| rs1220044464 | 2468 | S>F | No |
TOPMed gnomAD |
|
| rs1415726564 | 2469 | L>P | No |
TOPMed gnomAD |
|
| rs2095744360 | 2470 | E>G | No | TOPMed | |
| rs779328924 | 2472 | S>G | No |
ExAC gnomAD |
|
|
TCGA novel RCV001776397 rs2154024692 |
2473 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA Ensembl dbSNP |
| rs2095745665 | 2476 | P>R | No | Ensembl | |
| rs1479624503 | 2476 | P>T | No |
TOPMed gnomAD |
|
| COSM2152472 | 2477 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 2477 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759671008 | 2477 | K>RPL* | No | ExAC | |
| rs2095746296 | 2478 | M>R | No | TOPMed | |
| rs1475233257 | 2478 | M>R | No | gnomAD | |
| TCGA novel | 2478 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095746696 | 2480 | A>V | No | TOPMed | |
| rs2095747121 | 2481 | G>E | No |
TOPMed gnomAD |
|
| rs2095747121 | 2481 | G>V | No |
TOPMed gnomAD |
|
| rs747318564 | 2482 | I>N | No |
ExAC TOPMed gnomAD |
|
| rs1250400244 | 2485 | S>N | No | gnomAD | |
| rs748843151 | 2487 | F>S | No |
ExAC gnomAD |
|
| rs965498003 | 2488 | P>H | No | Ensembl | |
| rs1458347240 | 2488 | P>S | No |
1000Genomes gnomAD |
|
| rs1165291294 | 2490 | P>L | No | Ensembl | |
| rs145839325 | 2491 | A>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs2154024780 | 2491 | A>T | No | Ensembl | |
| rs145839325 | 2491 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs759193468 | 2492 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs759193468 | 2492 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1381803079 | 2496 | T>A | No | gnomAD | |
| TCGA novel | 2496 | T>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1273089134 | 2497 | E>Q | No |
TOPMed gnomAD |
|
| rs984109066 | 2497 | E>V | No | Ensembl | |
| rs1330504383 | 2498 | L>H | No | gnomAD | |
| rs1330504383 | 2498 | L>P | No | gnomAD | |
| rs764136245 | 2501 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs753806503 | 2502 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs765409157 | 2503 | A>T | No |
ExAC gnomAD |
|
| rs2095752626 | 2503 | A>V | No | gnomAD | |
| rs1412619917 | 2504 | S>F | No | gnomAD | |
| rs2095753471 | 2505 | V>A | No | Ensembl | |
| rs1467125616 | 2505 | V>M | No |
TOPMed gnomAD |
|
| TCGA novel | 2506 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535569173 COSM242937 |
2506 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| COSM6099099 | 2507 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs755275459 | 2508 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs557294831 | 2510 | L>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2095755492 | 2512 | D>H | No | TOPMed | |
| rs367601671 | 2512 | D>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1350057024 | 2513 | P>L | No | gnomAD | |
| rs1350057024 | 2513 | P>R | No | gnomAD | |
| rs774977560 | 2516 | S>R | No |
ExAC TOPMed gnomAD |
|
|
COSM1426454 rs756461250 |
2517 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs760570232 | 2518 | E>K | No |
ExAC gnomAD |
|
| rs2095757070 | 2520 | D>E | No | Ensembl | |
| rs776531245 | 2521 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs776531245 | 2521 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs2095757599 | 2522 | L>H | No | Ensembl | |
| COSM1050239 | 2522 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095757599 | 2522 | L>P | No | Ensembl | |
| rs1201963893 | 2522 | L>V | No |
TOPMed gnomAD |
|
| COSM3007126 | 2523 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2154025025 | 2523 | E>Q | No | Ensembl | |
| rs765249381 | 2525 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs781543236 | 2528 | M>V | No |
ExAC gnomAD |
|
| rs1564024760 | 2529 | E>K | No | Ensembl | |
| rs753001714 | 2530 | S>N | No |
ExAC gnomAD |
|
| rs756674860 | 2532 | G>R | No |
ExAC gnomAD |
|
| COSM3825009 | 2532 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 2536 | L>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778250024 | 2536 | L>V | No |
ExAC gnomAD |
|
| rs267599989 | 2537 | S>F | No | Ensembl | |
| rs1588978560 | 2537 | S>P | No | TOPMed | |
| COSM3599270 | 2538 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1335748083 | 2538 | P>S | No | gnomAD | |
| rs745427219 | 2539 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs2154025142 | 2539 | D>N | No | Ensembl | |
| rs771463807 | 2541 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs771463807 | 2541 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs2095763211 | 2542 | S>R | No | TOPMed | |
| rs746675017 | 2544 | E>V | No |
ExAC gnomAD |
|
| COSM278815 | 2545 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 2549 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095764709 | 2550 | V>A | No | gnomAD | |
| rs1041196848 | 2550 | V>F | No |
TOPMed gnomAD |
|
| rs1041196848 | 2550 | V>I | No |
TOPMed gnomAD |
|
| rs1331693301 | 2551 | T>R | No | TOPMed | |
| rs2095765323 | 2553 | K>N | No | TOPMed | |
| rs371540452 | 2554 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs2095765546 | 2554 | T>S | No | TOPMed | |
| rs1202828284 | 2555 | T>A | No | gnomAD | |
| COSM4121471 | 2555 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772999462 | 2555 | T>K | No |
ExAC gnomAD |
|
| rs2095766862 | 2557 | V>G | No |
TOPMed gnomAD |
|
| rs1200339662 | 2557 | V>I | No |
TOPMed gnomAD |
|
| rs2095767070 | 2558 | S>N | No | Ensembl | |
| rs1244501698 | 2559 | T>R | No | gnomAD | |
| rs762896657 | 2560 | P>A | No |
ExAC gnomAD |
|
| rs766400799 | 2560 | P>L | No |
ExAC gnomAD |
|
| rs762896657 | 2560 | P>S | No |
ExAC gnomAD |
|
| rs751589249 | 2561 | K>E | No |
ExAC gnomAD |
|
|
RCV000479786 rs886039184 CA10587583 RCV000250719 |
2562 | P>L | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs886039184 | 2562 | P>Q | No | TOPMed | |
| rs2095768706 | 2563 | A>P | No | TOPMed | |
| rs1166587029 | 2565 | I>V | No | gnomAD | |
| COSM4121472 | 2566 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767713191 | 2568 | C>F | No |
ExAC TOPMed gnomAD |
|
| rs767713191 | 2568 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs753128361 | 2569 | A>T | No |
ExAC gnomAD |
|
| rs756440192 | 2569 | A>V | No |
ExAC gnomAD |
|
| rs757747051 | 2570 | E>D | No |
ExAC gnomAD |
|
| rs754326118 | 2570 | E>G | No |
ExAC gnomAD |
|
| rs754326118 | 2570 | E>V | No |
ExAC gnomAD |
|
|
rs1239014234 RCV001768228 |
2571 | E>D | No |
ClinVar TOPMed dbSNP |
|
| rs1224924539 | 2571 | E>G | No |
TOPMed gnomAD |
|
| rs1250594788 | 2572 | D>E | No | gnomAD | |
| rs779438899 | 2573 | D>N | No |
ExAC gnomAD |
|
| rs2095772383 | 2573 | D>V | No | Ensembl | |
| rs2095772628 | 2574 | S>L | No | TOPMed | |
| rs2095773395 | 2577 | G>E | No | Ensembl | |
| rs2095773673 | 2578 | E>Q | No | gnomAD | |
| COSM5139773 | 2581 | R>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748001958 | 2582 | F>L | No |
ExAC gnomAD |
|
|
RCV000998280 rs1588982377 |
2583 | T>A | No |
ClinVar dbSNP gnomAD |
|
| rs769732470 | 2583 | T>I | No |
ExAC gnomAD |
|
| TCGA novel | 2584 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2154025443 | 2584 | P>R | No | Ensembl | |
| rs952807763 | 2584 | P>S | No |
TOPMed gnomAD |
|
| rs1564026781 | 2585 | E>D | No | TOPMed | |
| rs202246352 | 2585 | E>G | No | 1000Genomes | |
| COSM3599271 | 2586 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753759800 | 2588 | M>R | No |
TOPMed gnomAD |
|
| rs753759800 | 2588 | M>T | No |
TOPMed gnomAD |
|
| rs773020228 | 2588 | M>V | No |
ExAC gnomAD |
|
| rs2095776813 | 2590 | K>E | No | Ensembl | |
|
RCV000498445 CA357932061 rs1372897732 |
2592 | V>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs770844945 | 2596 | K>E | No |
ExAC gnomAD |
|
| rs774353025 | 2596 | K>R | No |
ExAC gnomAD |
|
| rs2095778072 | 2597 | M>I | No | TOPMed | |
| rs1460981680 | 2598 | F>S | No | gnomAD | |
| rs1321345282 | 2599 | D>G | No |
TOPMed gnomAD |
|
| rs1378562728 | 2599 | D>N | No | TOPMed | |
| rs1321345282 | 2599 | D>V | No |
TOPMed gnomAD |
|
| TCGA novel | 2600 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095779514 | 2601 | L>F | No | TOPMed | |
| rs1435327705 | 2602 | E>G | No | gnomAD | |
| rs1391709046 | 2603 | Q>E | No | Ensembl | |
| rs759609355 | 2604 | E>V | No |
ExAC gnomAD |
|
| rs2154025546 | 2607 | Q>R | No | Ensembl | |
| rs373065849 | 2608 | K>N | No |
ESP TOPMed gnomAD |
|
| rs1246829809 | 2611 | Y>C | No |
TOPMed gnomAD |
|
|
RCV000246729 CA10587586 rs886038874 RCV003325478 |
2612 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM1050241 | 2614 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1365488613 | 2614 | E>K | No | Ensembl | |
|
rs786205571 RCV000171380 CA236223 |
2615 | P>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM3599272 | 2616 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 2617 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs367850770 | 2617 | Q>P | No | Ensembl | |
| rs2095784247 | 2618 | E>G | No | TOPMed | |
| rs201359267 | 2619 | E>D | No |
1000Genomes gnomAD |
|
| rs2095784708 | 2619 | E>K | No |
TOPMed gnomAD |
|
| rs757758875 | 2620 | S>T | No |
ExAC gnomAD |
|
| rs1463232779 | 2621 | S>P | No |
TOPMed gnomAD |
|
| COSM5589640 | 2622 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3825010 | 2623 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1190127464 | 2625 | D>Y | No | gnomAD | |
| rs369975032 | 2628 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2154025673 | 2630 | C>S | No | Ensembl | |
| TCGA novel | 2631 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755760560 | 2632 | V>A | No |
ExAC gnomAD |
|
| rs1159096479 | 2633 | D>E | No | gnomAD | |
| rs777442106 | 2634 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs777442106 | 2634 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs770840630 | 2635 | D>G | No |
ExAC gnomAD |
|
| rs1220171485 | 2635 | D>N | No |
TOPMed gnomAD |
|
| rs774315528 | 2636 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs866384643 | 2637 | P>S | No | Ensembl | |
| rs775510550 | 2640 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs775510550 | 2640 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1314624680 | 2642 | S>G | No | gnomAD | |
| rs764324021 | 2643 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs760896724 | 2643 | G>W | No |
ExAC TOPMed gnomAD |
|
| rs370708144 | 2644 | E>K | No | gnomAD | |
| rs765710119 | 2645 | D>N | No |
ExAC gnomAD |
|
| TCGA novel | 2646 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750987031 | 2647 | S>G | No | ExAC | |
| rs768985159 | 2647 | S>T | No |
ExAC gnomAD |
|
|
rs563254150 COSM3357765 |
2648 | G>A | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| rs199828363 | 2648 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs757054320 | 2653 | V>A | No |
ExAC gnomAD |
|
| rs749079307 | 2653 | V>I | No |
ExAC gnomAD |
|
| rs373153154 | 2655 | S>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1379576194 | 2656 | E>D | No |
TOPMed gnomAD |
|
| TCGA novel | 2657 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095794741 | 2658 | R>G | No | TOPMed | |
| rs1371176383 | 2658 | R>K | No | gnomAD | |
| rs1390277535 | 2659 | K>E | No | gnomAD | |
| rs2095795612 | 2660 | V>A | No | TOPMed | |
| rs2095795612 | 2660 | V>E | No | TOPMed | |
| rs140042254 | 2660 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1564029811 | 2662 | S>C | No | Ensembl | |
|
COSM1694845 rs2154025945 |
2663 | S>F | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs564650497 | 2663 | S>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM6099098 | 2663 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770223862 | 2666 | S>G | No |
ExAC gnomAD |
|
| TCGA novel | 2666 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1278548395 | 2667 | E>D | No |
TOPMed gnomAD |
|
| rs2154025960 | 2667 | E>K | No | Ensembl | |
| rs2095796837 | 2668 | P>T | No | TOPMed | |
| rs1210753042 | 2670 | L>V | No | gnomAD | |
|
CA3051698 RCV000520037 rs763567400 |
2672 | Q>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| COSM4121473 | 2674 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs978277934 | 2675 | K>R | No | TOPMed | |
| rs752323136 | 2676 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs1588990871 | 2677 | A>T | No | Ensembl | |
| rs763704379 | 2678 | D>H | No |
ExAC gnomAD |
|
|
RCV001757517 rs2154026052 |
2679 | S>P | No |
ClinVar Ensembl dbSNP |
|
| rs528646691 | 2680 | G>R | No | 1000Genomes | |
| COSM1050244 | 2681 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1184684611 | 2682 | L>S | No |
TOPMed gnomAD |
|
| rs2095800086 | 2684 | E>Q | No | Ensembl | |
| COSM1426455 | 2684 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095800385 | 2685 | P>L | No | Ensembl | |
| rs1430157438 | 2687 | I>M | No | gnomAD | |
|
rs765199439 COSM1050246 |
2688 | R>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs765199439 | 2688 | R>G | No |
ExAC gnomAD |
|
| rs142107156 | 2688 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 2689 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1588992071 | 2690 | Q>H | No | Ensembl | |
| rs2095801532 | 2690 | Q>K | No | TOPMed | |
| TCGA novel | 2691 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2693 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1257321339 | 2695 | L>F | No |
TOPMed gnomAD |
|
| rs1588992906 | 2699 | M>T | No |
TOPMed gnomAD |
|
| rs2095803293 | 2699 | M>V | No | TOPMed | |
| rs1275616940 | 2700 | D>Y | No | gnomAD | |
| TCGA novel | 2701 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748404965 | 2702 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs1204481766 | 2704 | S>G | No | gnomAD | |
| rs1341662502 | 2704 | S>N | No | Ensembl | |
| rs1564031135 | 2705 | P>L | No | Ensembl | |
| rs142652341 | 2706 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs763406042 | 2710 | F>S | No |
ExAC gnomAD |
|
|
rs771607762 RCV001582361 |
2711 | Q>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs753223319 | 2714 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs753223319 | 2714 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1459411951 | 2717 | Q>L | No |
TOPMed gnomAD |
|
| rs1478713786 | 2718 | Y>* | No |
TOPMed gnomAD |
|
| rs764860853 | 2718 | Y>H | No |
ExAC gnomAD |
|
|
RCV003159140 rs1554563090 RCV000621876 CA357933193 |
2719 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM3825011 | 2720 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750255630 | 2721 | K>R | No |
ExAC gnomAD |
|
| rs2095809088 | 2722 | M>L | No | TOPMed | |
| rs368002728 | 2722 | M>T | No |
ESP ExAC gnomAD |
|
| rs751543821 | 2725 | D>H | No |
ExAC gnomAD |
|
| TCGA novel | 2725 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748162795 | 2726 | T>I | No |
ExAC gnomAD |
|
| COSM3825012 | 2726 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM480772 | 2727 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1426457 | 2729 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs749720688 | 2730 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| COSM6166234 | 2731 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1260923699 | 2732 | K>E | No |
TOPMed gnomAD |
|
| rs1240083703 | 2732 | K>I | No | gnomAD | |
| rs2095811782 | 2733 | S>P | No | TOPMed | |
| rs771446343 | 2735 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs1474953493 | 2735 | E>K | No | gnomAD | |
| rs1588996816 | 2736 | E>G | No | Ensembl | |
| rs1419902437 | 2737 | K>Q | No |
TOPMed gnomAD |
|
| rs1270060472 | 2738 | D>V | No |
TOPMed gnomAD |
|
| rs529299507 | 2738 | D>Y | No |
1000Genomes ExAC |
|
| COSM3428069 | 2739 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1163523275 | 2740 | E>K | No | gnomAD | |
| rs78494076 | 2740 | E>V | No | Ensembl | |
| rs2095814107 | 2741 | S>Y | No | TOPMed | |
| COSM309102 | 2742 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095814475 | 2746 | D>A | No |
TOPMed gnomAD |
|
| rs142137451 | 2747 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs376628082 | 2747 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs764914059 | 2748 | H>N | No |
ExAC gnomAD |
|
| rs1037352532 | 2749 | A>S | No |
TOPMed gnomAD |
|
| rs898435226 | 2749 | A>V | No | gnomAD | |
| rs1419976241 | 2750 | V>L | No |
TOPMed gnomAD |
|
| COSM1671221 | 2751 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751253688 | 2752 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs558793790 | 2752 | T>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1167202865 | 2754 | A>P | No | TOPMed | |
| COSM4121474 | 2755 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs755000290 | 2756 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1183648543 | 2757 | R>T | No |
TOPMed gnomAD |
|
| rs2095817671 | 2758 | S>F | No | TOPMed | |
| rs1282420256 | 2759 | Y>F | No | gnomAD | |
| rs767350978 | 2760 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs1484629154 | 2763 | N>H | No |
TOPMed gnomAD |
|
| rs1187145076 | 2764 | R>I | No | gnomAD | |
| COSM731889 | 2764 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1470874990 | 2766 | T>A | No | gnomAD | |
| rs570797944 | 2766 | T>S | No |
1000Genomes ExAC gnomAD |
|
| rs375718800 | 2767 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs375718800 | 2767 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs749554408 | 2768 | Q>H | No |
ExAC gnomAD |
|
| rs1414702149 | 2768 | Q>R | No | gnomAD | |
| rs2095820535 | 2770 | K>E | No | TOPMed | |
| rs1377656916 | 2772 | C>S | No | gnomAD | |
| rs2095821107 | 2773 | D>N | No | TOPMed | |
| rs2095821333 | 2773 | D>V | No | TOPMed | |
|
TCGA novel rs2095821107 RCV001766091 |
2773 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA TOPMed dbSNP |
| COSM6166233 | 2774 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs746208788 | 2776 | G>* | No |
ExAC gnomAD |
|
| rs772706757 | 2776 | G>E | No |
ExAC gnomAD |
|
| rs772706757 | 2776 | G>V | No |
ExAC gnomAD |
|
| rs747497478 | 2777 | C>R | No |
ExAC gnomAD |
|
| rs2095823157 | 2779 | A>T | No |
TOPMed gnomAD |
|
| rs772639803 | 2780 | M>I | No |
ExAC gnomAD |
|
| rs1282116598 | 2780 | M>T | No |
TOPMed gnomAD |
|
| rs1209970750 | 2781 | S>I | No |
TOPMed gnomAD |
|
| rs1209970750 | 2781 | S>N | No |
TOPMed gnomAD |
|
|
RCV001757301 rs2154026760 |
2781 | S>R | No |
ClinVar Ensembl dbSNP |
|
| rs2154026784 | 2782 | P>H | No | Ensembl | |
| rs2095824148 | 2782 | P>S | No | TOPMed | |
| rs1564034412 | 2783 | S>G | No | Ensembl | |
| rs1439539868 | 2783 | S>N | No | gnomAD | |
| rs2095824712 | 2783 | S>R | No | Ensembl | |
| COSM6099097 | 2784 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1178981600 | 2784 | S>N | No |
TOPMed gnomAD |
|
| rs953895815 | 2785 | S>A | No | TOPMed | |
| TCGA novel | 2786 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1478112915 | 2787 | A>V | No | gnomAD | |
| rs1195125634 | 2788 | P>A | No | gnomAD | |
| rs2095826054 | 2789 | V>L | No | TOPMed | |
| rs1392941634 | 2791 | S>L | No | gnomAD | |
| rs2154026845 | 2792 | G>S | No | Ensembl | |
| rs957787977 | 2792 | G>V | No |
TOPMed gnomAD |
|
| rs1326892961 | 2795 | S>G | No | gnomAD | |
| rs1335255478 | 2795 | S>N | No | gnomAD | |
| rs1164213516 | 2798 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs758499540 | 2798 | G>R | No | Ensembl | |
| rs758499540 | 2798 | G>S | No | Ensembl | |
| rs779002619 | 2799 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs758707541 | 2800 | D>E | No |
ExAC gnomAD |
|
| rs74743698 | 2803 | E>D | No |
TOPMed gnomAD |
|
| rs1271608261 | 2804 | Q>H | No | gnomAD | |
| rs575152865 | 2805 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2095830696 | 2805 | P>S | No | TOPMed | |
| rs991494895 | 2806 | V>F | No | gnomAD | |
| rs991494895 | 2806 | V>L | No | gnomAD | |
| rs777321326 | 2807 | I>V | No |
ExAC gnomAD |
|
| rs2095832134 | 2809 | K>E | No | gnomAD | |
| TCGA novel | 2810 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095832484 | 2810 | E>A | No | TOPMed | |
| rs1293050350 | 2810 | E>K | No | TOPMed | |
| rs1476638647 | 2811 | S>L | No |
TOPMed gnomAD |
|
| rs1374024105 | 2811 | S>P | No | gnomAD | |
| rs770609178 | 2813 | A>P | No |
ExAC gnomAD |
|
| rs770609178 | 2813 | A>S | No |
ExAC gnomAD |
|
| rs1396490363 | 2813 | A>V | No | gnomAD | |
| COSM1309638 | 2815 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs775290311 | 2817 | T>I | No |
ExAC gnomAD |
|
| rs2095834186 | 2818 | H>D | No | gnomAD | |
| rs760704305 | 2818 | H>R | No |
ExAC gnomAD |
|
| rs376908394 | 2820 | K>Q | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2821 | D>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1269515889 | 2822 | T>A | No | gnomAD | |
| rs2095836006 | 2823 | E>K | No | TOPMed | |
| rs1335434076 | 2827 | L>F | No | gnomAD | |
| rs1335434076 | 2827 | L>I | No | gnomAD | |
| COSM4853526 | 2828 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750637291 | 2829 | V>A | No |
ExAC gnomAD |
|
| rs765308165 | 2829 | V>L | No |
ExAC gnomAD |
|
| COSM1426458 | 2830 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
TCGA novel rs2095837130 |
2831 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs758576071 | 2832 | A>E | No |
ExAC gnomAD |
|
|
TCGA novel rs2095837571 |
2834 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs3733617 | 2835 | P>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2095838031 | 2835 | P>L | No | TOPMed | |
| COSM731887 | 2836 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1449086427 | 2837 | A>V | No | gnomAD | |
| rs751901289 | 2839 | C>R | No |
ExAC gnomAD |
|
| COSM6099096 | 2841 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095839641 | 2843 | S>N | No |
TOPMed gnomAD |
|
| COSM201687 | 2843 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1372983246 | 2844 | F>L | No | gnomAD | |
| rs1460156183 | 2846 | S>F | No |
TOPMed gnomAD |
|
| rs150296027 | 2847 | S>L | No | ESP | |
| rs748855197 | 2850 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs137856530 | 2851 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs745536749 | 2852 | H>L | No |
ExAC TOPMed gnomAD |
|
|
rs745536749 COSM3825013 |
2852 | H>R | breast [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs2154027210 | 2854 | L>S | No | Ensembl | |
| COSM731886 | 2855 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095842891 | 2856 | S>P | No | TOPMed | |
| rs1564038156 | 2856 | S>Y | No | Ensembl | |
| COSM1426459 | 2857 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4847395 | 2857 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1479176974 | 2858 | G>R | No |
TOPMed gnomAD |
|
| TCGA novel | 2860 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1355959492 | 2860 | E>Q | No | gnomAD | |
| rs2065883334 | 2861 | L>S | No | gnomAD | |
| rs771705361 | 2862 | D>E | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 2863 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2863 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775472966 | 2864 | D>N | No |
ExAC gnomAD |
|
| rs775472966 | 2864 | D>Y | No |
ExAC gnomAD |
|
| rs2095844765 | 2865 | I>L | No | Ensembl | |
| rs2095844765 | 2865 | I>V | No | Ensembl | |
|
rs2154027304 RCV001786955 |
2868 | T>I | No |
ClinVar Ensembl dbSNP |
|
| rs1484714501 | 2869 | S>P | No | gnomAD | |
| rs776692426 | 2869 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| TCGA novel | 2870 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095846908 | 2872 | Q>P | No | gnomAD | |
| rs2095847279 | 2874 | T>K | No |
TOPMed gnomAD |
|
| rs370857443 | 2875 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1489993415 | 2875 | E>K | No |
TOPMed gnomAD |
|
| rs1379339582 | 2876 | V>A | No |
TOPMed gnomAD |
|
| rs2095848391 | 2877 | T>A | No | TOPMed | |
| rs751989112 | 2879 | T>N | No |
ExAC gnomAD |
|
| rs2095849688 | 2880 | D>E | No | TOPMed | |
| rs755323767 | 2880 | D>V | No |
ExAC gnomAD |
|
| rs56222626 | 2882 | T>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs767811490 | 2882 | T>P | No |
ExAC gnomAD |
|
| rs1231013746 | 2883 | F>Y | No | gnomAD | |
| rs745359722 | 2886 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs779845227 | 2887 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs779845227 | 2887 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs779845227 | 2887 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1237879583 | 2890 | C>R | No | gnomAD | |
|
rs2154027475 RCV001582278 |
2891 | P>L | No |
ClinVar Ensembl dbSNP |
|
| rs1349029297 | 2891 | P>S | No |
TOPMed gnomAD |
|
| TCGA novel | 2893 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2895 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs541694327 | 2895 | S>P | No | Ensembl | |
| rs2095853438 | 2896 | S>P | No | gnomAD | |
| rs748060839 | 2897 | I>V | No |
ExAC gnomAD |
|
| rs2154027517 | 2898 | T>A | No | Ensembl | |
| rs1483236587 | 2898 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2154027535 | 2901 | T>A | No | Ensembl | |
| rs1252792022 | 2901 | T>R | No | gnomAD | |
| rs2095854946 | 2902 | D>G | No | TOPMed | |
| rs1429603388 | 2903 | R>I | No | TOPMed | |
| rs773207797 | 2903 | R>S | No |
ExAC gnomAD |
|
| rs766646388 | 2905 | S>F | No |
ExAC gnomAD |
|
|
COSM6166232 COSM1539183 rs1409545887 |
2906 | M>I | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
| rs759688704 | 2907 | D>A | No |
ExAC TOPMed gnomAD |
|
| rs759688704 | 2907 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs759688704 | 2907 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs866965780 | 2908 | V>A | No | Ensembl | |
| rs2095857090 | 2909 | P>T | No | Ensembl | |
| rs1299317465 | 2910 | V>E | No | gnomAD | |
| rs779649040 | 2911 | S>Y | No |
ExAC gnomAD |
|
| rs746693928 | 2913 | L>V | No |
ExAC gnomAD |
|
| rs1278663147 | 2916 | N>S | No | gnomAD | |
| rs1278663147 | 2916 | N>T | No | gnomAD | |
| rs754631244 | 2919 | I>V | No |
ExAC gnomAD |
|
| COSM3409012 | 2922 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs769688422 | 2924 | I>T | No |
ExAC gnomAD |
|
| rs1182877426 | 2924 | I>V | No | gnomAD | |
| rs2095861342 | 2925 | T>S | No | Ensembl | |
| rs1253836373 | 2926 | S>R | No |
TOPMed gnomAD |
|
| TCGA novel | 2927 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749122670 | 2928 | Y>* | No | ExAC | |
| rs2095862107 | 2931 | V>I | No | TOPMed | |
|
rs771003489 RCV001753340 |
2933 | S>F | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1191466416 | 2934 | Q>P | No | gnomAD | |
| rs1172427238 | 2935 | S>F | No |
TOPMed gnomAD |
|
| rs1428987637 | 2935 | S>P | No | gnomAD | |
| rs1564042909 | 2938 | S>C | No | Ensembl | |
| rs2095864228 | 2939 | S>G | No | TOPMed | |
| rs2095864427 | 2939 | S>N | No | TOPMed | |
| rs1326054690 | 2940 | E>K | No |
TOPMed gnomAD |
|
| rs772258378 | 2941 | E>V | No |
ExAC gnomAD |
|
| COSM3599274 | 2944 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 2944 | T>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1335753395 | 2945 | Q>R | No |
TOPMed gnomAD |
|
| rs1468505239 | 2947 | D>E | No |
TOPMed gnomAD |
|
| rs1438300578 | 2948 | A>T | No | gnomAD | |
| rs2095866346 | 2949 | N>S | No | Ensembl | |
| rs1298372610 | 2950 | H>Q | No |
TOPMed gnomAD |
|
| rs761093634 | 2951 | T>A | No |
ExAC gnomAD |
|
| rs1218072066 | 2952 | T>I | No | gnomAD | |
| rs1171679481 | 2953 | S>G | No | gnomAD | |
| rs1469935132 | 2954 | F>I | No | gnomAD | |
| COSM3917002 | 2956 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1564044072 | 2957 | S>F | No | Ensembl | |
| rs1486067962 | 2957 | S>T | No | gnomAD | |
| rs970878628 | 2958 | E>A | No | TOPMed | |
| TCGA novel | 2958 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1417269396 | 2960 | Y>C | No | gnomAD | |
|
rs2095869100 COSM1050249 |
2961 | S>Y | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| COSM4931659 | 2963 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1177855349 | 2963 | T>I | No | gnomAD | |
| rs1164957496 | 2964 | I>T | No | gnomAD | |
| rs142940881 | 2964 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2095869975 | 2966 | S>F | No | Ensembl | |
|
RCV003346652 rs751095004 RCV001703351 |
2968 | V>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs910123188 | 2968 | V>I | No | Ensembl | |
| rs754720818 | 2969 | E>G | No |
ExAC gnomAD |
|
|
RCV001759054 rs752493662 |
2971 | V>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2095871604 | 2972 | V>A | No | TOPMed | |
| rs140076489 | 2972 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1459772125 | 2973 | V>L | No |
TOPMed gnomAD |
|
| COSM4121477 | 2974 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1231600524 | 2974 | A>V | No | gnomAD | |
|
rs939757661 RCV001753243 |
2977 | S>C | No |
ClinVar TOPMed dbSNP |
|
| rs939757661 | 2977 | S>F | No | TOPMed | |
| rs1217618151 | 2979 | G>A | No |
TOPMed gnomAD |
|
| rs1217618151 | 2979 | G>E | No |
TOPMed gnomAD |
|
| rs770805217 | 2980 | T>I | No |
ExAC gnomAD |
|
| rs1313848289 | 2981 | V>I | No | TOPMed | |
| rs2095873666 | 2984 | K>N | No | TOPMed | |
| COSM1050251 | 2985 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 2987 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095874298 | 2987 | N>S | No | Ensembl | |
| rs775764610 | 2990 | G>D | No |
ExAC gnomAD |
|
| rs2095874613 | 2990 | G>S | No | Ensembl | |
| rs775764610 | 2990 | G>V | No |
ExAC gnomAD |
|
| rs760748003 | 2991 | Q>E | No |
ExAC gnomAD |
|
| rs1408241272 | 2992 | D>Y | No | gnomAD | |
| rs1402111630 | 2993 | I>L | No |
TOPMed gnomAD |
|
| COSM3825014 | 2993 | I>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1402111630 | 2993 | I>V | No |
TOPMed gnomAD |
|
| rs776816544 | 2995 | M>I | No |
ExAC gnomAD |
|
| rs1399840504 | 2997 | S>Y | No | gnomAD | |
| rs1564046515 | 3000 | E>K | No | Ensembl | |
| rs762462330 | 3002 | T>P | No |
ExAC gnomAD |
|
| rs1412988750 | 3003 | L>W | No | gnomAD | |
| rs1283696312 | 3004 | W>* | No | gnomAD | |
| rs1167529807 | 3006 | M>I | No | Ensembl | |
| rs2095877781 | 3006 | M>R | No | Ensembl | |
| rs2095877629 | 3006 | M>V | No | Ensembl | |
| rs1374278195 | 3007 | Q>R | No | gnomAD | |
| rs1384706510 | 3009 | D>E | No | TOPMed | |
| rs1033584631 | 3010 | S>R | No | Ensembl | |
| rs369351766 | 3010 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1352700111 | 3012 | S>F | No |
TOPMed gnomAD |
|
| rs2154028200 | 3014 | S>F | No | Ensembl | |
| rs1484679982 | 3017 | P>S | No | gnomAD | |
| rs1484679982 | 3017 | P>T | No | gnomAD | |
| rs1249480628 | 3018 | T>N | No |
TOPMed gnomAD |
|
| rs1480226738 | 3018 | T>S | No |
TOPMed gnomAD |
|
| rs757224522 | 3019 | M>I | No |
ExAC gnomAD |
|
| rs370499072 | 3019 | M>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs753553783 | 3019 | M>T | No |
ExAC gnomAD |
|
| rs778814335 | 3020 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs778814335 | 3020 | S>F | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 3020 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778814335 | 3020 | S>Y | No |
ExAC TOPMed gnomAD |
|
| rs74348333 | 3021 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2095882102 | 3022 | T>I | No | gnomAD | |
| TCGA novel | 3023 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095882339 | 3023 | T>K | No | Ensembl | |
| rs1307340369 | 3024 | T>A | No |
TOPMed gnomAD |
|
| rs1377745228 | 3024 | T>I | No |
TOPMed gnomAD |
|
| rs779927856 | 3026 | V>I | No |
ExAC gnomAD |
|
| rs1333513734 | 3027 | G>C | No |
TOPMed gnomAD |
|
| rs1333513734 | 3027 | G>R | No |
TOPMed gnomAD |
|
| TCGA novel | 3028 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1444529190 | 3031 | S>N | No | gnomAD | |
| rs1278000331 | 3034 | I>V | No | gnomAD | |
| COSM6099093 | 3035 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1589024764 | 3039 | D>Y | No | Ensembl | |
| rs1305388846 | 3042 | S>A | No | gnomAD | |
| TCGA novel | 3042 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2154028393 | 3043 | D>Y | No | Ensembl | |
| rs376455095 | 3044 | S>Y | No | ESP | |
| COSM6166231 | 3045 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM242939 rs1201870166 RCV002222960 |
3049 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| TCGA novel | 3051 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1564049232 | 3051 | D>N | No | Ensembl | |
| rs1454461919 | 3052 | D>N | No |
TOPMed gnomAD |
|
| rs139007578 | 3054 | A>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs730880048 | 3058 | R>L | No |
ExAC TOPMed gnomAD |
|
|
COSM377942 rs188282049 |
3058 | R>S | lung [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| rs1329451561 | 3059 | V>A | No | gnomAD | |
| rs761458371 | 3059 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs2154028505 | 3060 | K>E | No | Ensembl | |
| COSM4121478 | 3060 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095891359 | 3061 | E>V | No | TOPMed | |
| rs757030067 | 3064 | Q>* | No |
ExAC TOPMed gnomAD |
|
|
RCV002370303 rs757030067 RCV001755401 |
3064 | Q>E | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs370896218 | 3066 | I>R | No | ESP | |
| rs370896218 | 3066 | I>T | No | ESP | |
| rs764952487 | 3067 | F>L | No |
ExAC gnomAD |
|
| rs1285548445 | 3068 | G>D | No | TOPMed | |
| rs1232343758 | 3069 | L>V | No |
TOPMed gnomAD |
|
| rs758289079 | 3071 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs758289079 | 3071 | V>G | No |
ExAC TOPMed gnomAD |
|
| rs1301907721 | 3072 | D>G | No | Ensembl | |
| rs970996373 | 3074 | Q>K | No |
TOPMed gnomAD |
|
| TCGA novel | 3076 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1451937708 | 3077 | G>S | No | TOPMed | |
| TCGA novel | 3078 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1589028212 | 3078 | T>I | No | Ensembl | |
| rs1589028212 | 3078 | T>S | No | Ensembl | |
| rs781261146 | 3079 | T>I | No |
ExAC gnomAD |
|
| rs748324636 | 3080 | P>H | No |
ExAC gnomAD |
|
| rs748324636 | 3080 | P>L | No |
ExAC gnomAD |
|
| TCGA novel | 3081 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1198648495 | 3081 | D>N | No | gnomAD | |
| rs2095898005 | 3084 | P>T | No | TOPMed | |
| rs749835469 | 3085 | A>V | No |
ExAC gnomAD |
|
|
TCGA novel rs2154028671 RCV001541357 |
3087 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA Ensembl dbSNP |
| COSM4916471 | 3088 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
TCGA novel rs2154028686 |
3091 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| TCGA novel | 3091 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM42887 rs1178300784 |
3093 | T>I | central_nervous_system [Cosmic] | No |
cosmic curated TOPMed |
| rs562092294 | 3093 | T>P | No | 1000Genomes | |
| rs1283426067 | 3095 | T>A | No | gnomAD | |
| rs760097199 | 3095 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs760097199 | 3095 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs760097199 | 3095 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs2154028733 | 3097 | E>K | No | Ensembl | |
| rs765043878 | 3100 | P>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 3100 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1247076365 | 3106 | G>E | No | gnomAD | |
| TCGA novel | 3113 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2154028770 TCGA novel RCV002224297 |
3113 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA Ensembl dbSNP |
| rs2095902870 | 3114 | S>C | No | TOPMed | |
| rs750200654 | 3114 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs750200654 | 3114 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs1209553773 | 3119 | M>K | No | gnomAD | |
| rs758405677 | 3119 | M>V | No |
ExAC gnomAD |
|
| rs770517954 | 3122 | R>M | No | gnomAD | |
|
rs1449195597 RCV002265304 |
3122 | R>S | No |
ClinVar dbSNP gnomAD |
|
| rs770517954 | 3122 | R>T | No | gnomAD | |
| rs1264680671 | 3123 | S>P | No |
TOPMed gnomAD |
|
| COSM6099092 | 3124 | Y>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1192149193 | 3125 | A>E | No | gnomAD | |
| rs766225113 | 3126 | D>G | No |
ExAC gnomAD |
|
|
rs150935260 RCV001769781 |
3126 | D>N | No |
ClinVar ESP TOPMed dbSNP gnomAD |
|
| rs781356362 | 3129 | F>L | No |
ExAC gnomAD |
|
|
RCV001755472 rs2095908124 |
3130 | H>R | No |
ClinVar TOPMed dbSNP |
|
|
rs1158891229 RCV002255064 |
3131 | F>L | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1386898346 | 3133 | Q>K | No | gnomAD | |
| rs2095908890 | 3133 | Q>R | No | gnomAD | |
| rs1297470655 | 3134 | I>V | No | gnomAD | |
|
rs756356716 CA3051909 RCV000618464 |
3135 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2095911041 | 3138 | S>F | No | Ensembl | |
| rs2095910797 | 3138 | S>T | No | Ensembl | |
| rs2154028958 | 3139 | R>M | No | Ensembl | |
| TCGA novel | 3140 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs138474562 | 3141 | E>G | No |
ESP TOPMed gnomAD |
|
| rs1337721033 | 3141 | E>K | No | Ensembl | |
| rs138474562 | 3141 | E>V | No |
ESP TOPMed gnomAD |
|
|
rs768052634 RCV001776991 |
3142 | T>I | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs768052634 | 3142 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs768052634 | 3142 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs776074680 | 3143 | L>F | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 3143 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 3144 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1285918243 | 3145 | E>K | No | gnomAD | |
| rs2095914427 | 3150 | G>A | No | Ensembl | |
| rs2095914149 | 3150 | G>R | No | TOPMed | |
| rs1423416014 | 3151 | A>S | No |
TOPMed gnomAD |
|
| rs1423416014 | 3151 | A>T | No |
TOPMed gnomAD |
|
| rs766143754 | 3152 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs551858840 | 3154 | A>S | No |
1000Genomes ExAC gnomAD |
|
| rs2154029078 | 3155 | D>E | No | Ensembl | |
| rs749887780 | 3155 | D>G | No | Ensembl | |
| rs767728063 | 3156 | P>T | No |
ExAC gnomAD |
|
| rs766761165 | 3161 | T>S | No |
ExAC gnomAD |
|
| rs2154029136 | 3166 | L>I | No | Ensembl | |
| COSM3599275 | 3171 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095921350 | 3173 | E>Q | No | Ensembl | |
| rs2095921975 | 3174 | T>I | No | TOPMed | |
| rs2095921975 | 3174 | T>K | No | TOPMed | |
| rs746388702 | 3175 | V>L | No |
ExAC gnomAD |
|
| TCGA novel | 3175 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780724237 | 3176 | D>G | No |
ExAC gnomAD |
|
| rs1404545085 | 3177 | D>H | No |
TOPMed gnomAD |
|
| rs878970056 | 3178 | E>A | No | gnomAD | |
| rs878970056 | 3178 | E>G | No | gnomAD | |
| rs2095925015 | 3179 | A>E | No | gnomAD | |
| rs527731735 | 3179 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
| rs1564054632 | 3180 | D>H | No | gnomAD | |
| rs1564054632 | 3180 | D>N | No | gnomAD | |
| rs149382018 | 3182 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs2095926592 | 3182 | L>P | No | TOPMed | |
| rs1395488886 | 3183 | P>A | No |
TOPMed gnomAD |
|
| rs371509239 | 3185 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs759441164 | 3186 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1452229518 | 3187 | S>N | No | TOPMed | |
| rs767529784 | 3187 | S>R | No |
ExAC gnomAD |
|
| rs752891592 | 3189 | E>D | No |
ExAC gnomAD |
|
| rs1003758090 | 3192 | E>G | No | TOPMed | |
| rs1397598090 | 3193 | I>M | No |
TOPMed gnomAD |
|
| rs1445625459 | 3194 | P>T | No | gnomAD | |
| TCGA novel | 3196 | S>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757458376 | 3197 | D>G | No |
ExAC TOPMed |
|
| COSM1426462 | 3198 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs779164445 | 3198 | A>P | No |
ExAC gnomAD |
|
| rs1299816154 | 3198 | A>V | No | gnomAD | |
| rs1312179643 | 3199 | Q>E | No | gnomAD | |
| rs2154029364 | 3202 | S>F | No | Ensembl | |
| rs1183782136 | 3202 | S>P | No | TOPMed | |
| rs148514578 | 3203 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs2095933129 | 3203 | Q>R | No | TOPMed | |
| rs2095933691 | 3204 | M>V | No | gnomAD | |
| rs1198272598 | 3205 | G>E | No | gnomAD | |
| rs747459261 | 3207 | S>L | No |
ExAC gnomAD |
|
| rs2154029401 | 3208 | A>V | No | Ensembl | |
| TCGA novel | 3209 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6099090 | 3210 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1438828190 | 3210 | T>I | No | TOPMed | |
| COSM3599276 | 3211 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1219758514 | 3214 | T>A | No | gnomAD | |
| rs2095936424 | 3215 | K>E | No | Ensembl | |
| rs1194602374 | 3215 | K>I | No | TOPMed | |
| rs748917148 | 3217 | A>T | No |
ExAC gnomAD |
|
| rs371919804 | 3219 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1380837870 | 3220 | V>E | No | TOPMed | |
| rs535754716 | 3220 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2095938633 | 3221 | G>E | No | Ensembl | |
| rs2095939724 | 3223 | K>E | No | Ensembl | |
| rs1396310690 | 3224 | D>A | No | gnomAD | |
| rs374689504 | 3224 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1396310690 | 3224 | D>V | No | gnomAD | |
| rs760621962 | 3225 | L>I | No |
ExAC gnomAD |
|
| rs2095941099 | 3226 | P>H | No | gnomAD | |
| rs1280116634 | 3227 | T>I | No | gnomAD | |
| rs140604600 | 3227 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs141013157 | 3228 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs758779527 | 3229 | Q>E | No |
ExAC gnomAD |
|
| rs758779527 | 3229 | Q>K | No |
ExAC gnomAD |
|
| rs1486127822 | 3232 | D>G | No | gnomAD | |
| COSM6099089 | 3232 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1195728545 | 3234 | P>T | No | gnomAD | |
| rs758566777 | 3236 | L>F | No |
TOPMed gnomAD |
|
| rs2095945643 | 3238 | G>C | No |
TOPMed gnomAD |
|
| rs2095946222 | 3239 | V>A | No | TOPMed | |
| rs778612815 | 3239 | V>I | No |
ExAC gnomAD |
|
| rs1163070067 | 3241 | Q>R | No | gnomAD | |
| rs1454675114 | 3242 | I>M | No | gnomAD | |
| rs1349686827 | 3242 | I>T | No |
TOPMed gnomAD |
|
| TCGA novel | 3243 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs139128939 | 3244 | C>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1410754191 | 3245 | P>S | No |
TOPMed gnomAD |
|
| rs371808294 | 3246 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs371808294 | 3246 | D>Y | No |
ExAC TOPMed gnomAD |
|
|
COSM4121479 rs1399461128 |
3247 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1334113662 | 3250 | P>L | No | gnomAD | |
| rs2095949958 | 3250 | P>S | No | gnomAD | |
|
rs2095950515 RCV001192819 |
3251 | A>P | No |
ClinVar Ensembl dbSNP |
|
| rs2095950515 | 3251 | A>T | No | Ensembl | |
| rs1224563095 | 3252 | V>I | No |
TOPMed gnomAD |
|
| rs746961451 | 3253 | Q>E | No |
ExAC gnomAD |
|
| rs1381569652 | 3253 | Q>R | No |
TOPMed gnomAD |
|
| rs2095951851 | 3255 | Q>H | No | TOPMed | |
| rs1226847980 | 3258 | F>S | No | gnomAD | |
|
rs1057523335 RCV000443362 CA16604673 |
3259 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs369886800 | 3261 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs369886800 | 3261 | L>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1283782799 | 3262 | T>A | No | gnomAD | |
| rs765175059 | 3263 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1381979532 | 3263 | R>W | No | gnomAD | |
| rs1243433792 | 3265 | V>F | No | gnomAD | |
| rs2095955950 | 3266 | Y>C | No |
TOPMed gnomAD |
|
| rs2095955950 | 3266 | Y>F | No |
TOPMed gnomAD |
|
| TCGA novel | 3266 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs878898353 | 3268 | D>Y | No | Ensembl | |
| rs773492830 | 3269 | R>G | No |
ExAC gnomAD |
|
|
COSM1539179 rs763125408 |
3269 | R>K | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs766752639 | 3270 | G>A | No |
ExAC gnomAD |
|
| rs1054393061 | 3270 | G>C | No |
TOPMed gnomAD |
|
| rs766752639 | 3270 | G>V | No |
ExAC gnomAD |
|
| rs376285844 | 3272 | D>N | No |
ESP ExAC gnomAD |
|
| TCGA novel | 3273 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1359116496 | 3274 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs369168580 | 3275 | D>V | No | ESP | |
| rs1334864660 | 3275 | D>Y | No |
TOPMed gnomAD |
|
| rs533571648 | 3277 | S>F | No |
1000Genomes ExAC gnomAD |
|
| rs1374406921 | 3278 | P>Q | No |
1000Genomes TOPMed gnomAD |
|
| rs2095960314 | 3278 | P>S | No | gnomAD | |
| rs2095960806 | 3279 | E>K | No | Ensembl | |
| rs372534074 | 3281 | Q>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs750131480 | 3284 | V>A | No |
ExAC gnomAD |
|
| rs1400893886 | 3284 | V>I | No | TOPMed | |
| rs1458821529 | 3286 | E>D | No | gnomAD | |
| rs747972865 | 3288 | P>L | No |
ExAC gnomAD |
|
|
CA16604675 RCV000427558 rs1057523607 |
3290 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs769951852 | 3292 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs1439525696 | 3292 | M>K | No |
TOPMed gnomAD |
|
| TCGA novel | 3294 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1446618094 | 3294 | N>K | No | Ensembl | |
| rs774765910 | 3296 | P>L | No |
ExAC gnomAD |
|
| rs2154030011 | 3297 | F>S | No | Ensembl | |
| rs2095968443 | 3300 | S>N | No | Ensembl | |
| rs2095968983 | 3302 | S>P | No | TOPMed | |
| rs2095969252 | 3302 | S>Y | No | TOPMed | |
| rs1016630693 | 3303 | K>R | No | TOPMed | |
| rs2154030036 | 3305 | P>L | No | Ensembl | |
| COSM3599277 | 3305 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095970871 | 3306 | V>A | No | Ensembl | |
| rs200922244 | 3306 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1273140800 | 3309 | M>V | No |
TOPMed gnomAD |
|
| rs2095972519 | 3310 | P>L | No | Ensembl | |
| rs1025917024 | 3311 | T>A | No |
TOPMed gnomAD |
|
|
rs2095973537 TCGA novel |
3313 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs2095974162 | 3314 | P>L | No | gnomAD | |
| rs2095974870 | 3318 | S>F | No | Ensembl | |
| rs1394381582 | 3318 | S>P | No | gnomAD | |
| rs1589047276 | 3320 | E>Q | No | Ensembl | |
| rs780814996 | 3322 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs780814996 | 3322 | E>Q | No |
ExAC TOPMed gnomAD |
|
|
RCV000242392 CA10587587 rs886038841 |
3323 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs769598035 | 3325 | V>A | No |
ExAC gnomAD |
|
| rs2095976430 | 3325 | V>L | No |
TOPMed gnomAD |
|
| rs1424453889 | 3326 | S>C | No | gnomAD | |
| rs1399924196 | 3331 | S>F | No | gnomAD | |
| rs1168752344 | 3331 | S>P | No | gnomAD | |
| rs1387120693 | 3332 | S>G | No |
TOPMed gnomAD |
|
| TCGA novel | 3333 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1329206145 | 3333 | V>I | No |
TOPMed gnomAD |
|
| rs976428436 | 3334 | D>G | No |
TOPMed gnomAD |
|
| rs1278825210 | 3336 | E>K | No | gnomAD | |
| TCGA novel | 3339 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095979744 | 3339 | A>T | No | gnomAD | |
| rs1292508996 | 3342 | A>V | No | gnomAD | |
| rs2095981638 | 3344 | P>L | No | TOPMed | |
| rs2095981431 | 3344 | P>T | No | Ensembl | |
| COSM6166227 | 3345 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1264578107 | 3346 | S>F | No | gnomAD | |
| TCGA novel | 3346 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1191666124 | 3347 | K>N | No | gnomAD | |
| rs1478839138 | 3347 | K>Q | No | gnomAD | |
| rs2095983345 | 3347 | K>R | No | Ensembl | |
| COSM732904 | 3349 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3599279 | 3349 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs977391728 | 3350 | V>L | No | Ensembl | |
| rs1423106712 | 3352 | V>A | No | gnomAD | |
| rs1209219639 | 3352 | V>L | No | Ensembl | |
| rs764660993 | 3353 | P>A | No |
ExAC gnomAD |
|
| rs545513493 | 3353 | P>L | No |
1000Genomes ExAC gnomAD |
|
| rs1564061618 | 3354 | L>F | No | gnomAD | |
| rs1310350689 | 3355 | Q>E | No |
TOPMed gnomAD |
|
| rs762535771 | 3355 | Q>R | No |
ExAC gnomAD |
|
| rs1275111537 | 3357 | V>I | No | TOPMed | |
| rs765923125 | 3358 | E>K | No | ExAC | |
| TCGA novel | 3359 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1404597411 | 3361 | L>H | No | gnomAD | |
| rs1404597411 | 3361 | L>P | No | gnomAD | |
| rs2095988154 | 3364 | L>V | No | Ensembl | |
|
COSM3945903 rs1454274993 |
3365 | D>Y | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| COSM6166226 | 3366 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1589050756 | 3367 | S>Y | No | Ensembl | |
|
COSM1426465 rs1340663240 |
3368 | V>A | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
|
COSM42889 rs767395287 |
3368 | V>F | central_nervous_system [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs761655038 | 3369 | Q>R | No |
TOPMed gnomAD |
|
| rs1282117438 | 3373 | A>T | No |
TOPMed gnomAD |
|
| rs2095990889 | 3374 | P>L | No | Ensembl | |
| TCGA novel | 3376 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2095992200 | 3379 | M>V | No | Ensembl | |
| rs1214453791 | 3380 | A>T | No |
TOPMed gnomAD |
|
| rs1262603957 | 3380 | A>V | No | gnomAD | |
| rs2095993230 | 3381 | S>G | No | Ensembl | |
| rs138207015 | 3382 | I>F | No |
ESP ExAC gnomAD |
|
| COSM3409013 | 3382 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6166225 | 3384 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs980843968 | 3384 | P>Q | No | TOPMed | |
| rs1472337831 | 3384 | P>S | No | gnomAD | |
| rs757332070 | 3385 | D>G | No |
ExAC gnomAD |
|
| rs1362306881 | 3386 | N>Y | No |
TOPMed gnomAD |
|
| TCGA novel | 3387 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746123794 | 3387 | R>S | No |
ExAC gnomAD |
|
| rs1296989216 | 3387 | R>T | No | gnomAD | |
| rs772158824 | 3388 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
rs747328642 COSM4150425 |
3391 | E>K | ovary [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs769340917 | 3392 | S>C | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 3392 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769340917 | 3392 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs928072620 | 3393 | D>H | No | TOPMed | |
| rs777285562 | 3394 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1238586791 | 3395 | S>C | No |
TOPMed gnomAD |
|
| rs1238586791 | 3395 | S>G | No |
TOPMed gnomAD |
|
| rs868793379 | 3396 | S>C | No | gnomAD | |
|
COSM1694848 rs868793379 |
3396 | S>F | skin [Cosmic] | No |
cosmic curated gnomAD |
| rs1482154271 | 3397 | L>S | No | TOPMed | |
| rs1483619391 | 3398 | D>H | No | gnomAD | |
| COSM6166224 | 3399 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs111930429 | 3400 | K>E | No | Ensembl | |
| rs2096000266 | 3401 | T>A | No | Ensembl | |
| rs762372282 | 3402 | K>I | No |
ExAC TOPMed gnomAD |
|
| rs766013939 | 3403 | C>F | No |
ExAC gnomAD |
|
| rs1589053671 | 3404 | P>T | No | Ensembl | |
| rs1437645668 | 3405 | V>A | No |
TOPMed gnomAD |
|
| rs1437645668 | 3405 | V>G | No |
TOPMed gnomAD |
|
| rs1381965565 | 3405 | V>I | No |
TOPMed gnomAD |
|
| rs1381965565 | 3405 | V>L | No |
TOPMed gnomAD |
|
| rs2096002382 | 3406 | K>E | No | gnomAD | |
| rs771619109 | 3406 | K>N | No | Ensembl | |
|
rs773715451 COSM1050254 |
3408 | R>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD |
| rs759274800 | 3408 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs767072859 | 3409 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs752598077 | 3410 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs755918619 | 3411 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs755918619 | 3411 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs898228177 | 3414 | E>K | No | Ensembl | |
| rs2096005127 | 3415 | T>R | No | Ensembl | |
| rs1332402676 | 3416 | E>D | No | gnomAD | |
| TCGA novel | 3416 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1379541996 | 3417 | S>N | No |
TOPMed gnomAD |
|
| rs1445119275 | 3418 | R>K | No |
TOPMed gnomAD |
|
| rs1025722371 | 3420 | R>G | No | Ensembl | |
| rs1313315509 | 3420 | R>T | No | gnomAD | |
|
RCV002261755 rs184653689 |
3421 | A>S | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs184653689 | 3421 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 3421 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1426467 rs1240304125 |
3422 | E>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1564065017 | 3423 | E>A | No | Ensembl | |
| rs529128783 | 3425 | E>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2096008177 | 3425 | E>K | No | Ensembl | |
| rs529128783 | 3425 | E>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1176466512 | 3426 | L>S | No |
TOPMed gnomAD |
|
| rs2096009588 | 3429 | E>D | No | Ensembl | |
| rs867156673 | 3430 | E>D | No | Ensembl | |
| rs1465729912 | 3433 | T>A | No | gnomAD | |
| rs2154030875 | 3433 | T>R | No | Ensembl | |
| rs1482675661 | 3434 | R>S | No | TOPMed | |
| rs2096011648 | 3437 | I>L | No | TOPMed | |
|
CA10587588 RCV000248017 RCV000779694 rs886039169 |
3437 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2096011648 | 3437 | I>V | No | TOPMed | |
| rs769177007 | 3441 | R>* | No |
ExAC gnomAD |
|
| rs1299881678 | 3446 | S>R | No | gnomAD | |
| rs2096013689 | 3447 | R>G | No | TOPMed | |
| rs1049322066 | 3449 | T>I | No | TOPMed | |
| rs111889548 | 3450 | T>R | No | Ensembl | |
| rs1219397825 | 3451 | S>F | No |
TOPMed gnomAD |
|
| rs1260220928 | 3452 | S>A | No | gnomAD | |
| COSM5931449 | 3452 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1203468086 | 3454 | R>K | No |
TOPMed gnomAD |
|
| rs1308124351 | 3454 | R>W | No | TOPMed | |
| rs533201814 | 3455 | G>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs766996807 | 3455 | G>W | No |
ExAC TOPMed gnomAD |
|
|
RCV001840894 rs750143580 |
3456 | G>missing | No |
ClinVar dbSNP |
|
| COSM1180967 | 3456 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs760279615 | 3456 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1477856046 | 3456 | G>S | No | gnomAD | |
|
RCV001577218 rs750143580 |
3457 | T>missing | No |
ClinVar dbSNP |
|
| rs1420943053 | 3457 | T>A | No | gnomAD | |
|
COSM112067 rs750143580 |
3457 | T>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs867789193 | 3459 | P>L | No | Ensembl | |
| rs765077144 | 3461 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1472181221 | 3462 | E>D | No | TOPMed | |
| COSM3599280 | 3462 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1409580625 | 3463 | S>R | No | TOPMed | |
| COSM3775492 | 3465 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1400628858 | 3465 | E>K | No | gnomAD | |
| rs1490357181 | 3465 | E>V | No |
TOPMed gnomAD |
|
| rs1564067006 | 3466 | H>Q | No | Ensembl | |
| rs923227015 | 3470 | L>V | No | Ensembl | |
| rs1486632631 | 3471 | Y>H | No |
TOPMed gnomAD |
|
| rs2096023864 | 3472 | R>T | No | Ensembl | |
| rs956400203 | 3474 | S>A | No | TOPMed | |
|
CA357940385 rs1554572397 RCV000587257 |
3475 | I>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM3428070 rs755232869 |
3477 | F>L | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs2096025653 | 3482 | S>N | No | gnomAD | |
| rs2096025653 | 3482 | S>T | No | gnomAD | |
| rs933944304 | 3484 | E>K | No | Ensembl | |
| rs1299254706 | 3486 | S>P | No |
TOPMed gnomAD |
|
| rs2096027629 | 3487 | K>E | No | TOPMed | |
| rs770481878 | 3487 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs770481878 | 3487 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs1488581536 | 3490 | D>Y | No |
TOPMed gnomAD |
|
|
RCV001768268 rs778158309 |
3491 | R>K | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1260440900 | 3492 | L>V | No | gnomAD | |
| rs1384053788 | 3494 | Q>E | No |
TOPMed gnomAD |
|
| rs1022246080 | 3495 | S>L | No | TOPMed | |
| rs749738287 | 3497 | R>K | No |
ExAC gnomAD |
|
| rs749738287 | 3497 | R>M | No |
ExAC gnomAD |
|
| rs2154031291 | 3497 | R>W | No | Ensembl | |
| rs2096030888 | 3498 | E>K | No | Ensembl | |
| rs1415595734 | 3499 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 3500 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2096031447 | 3501 | I>R | No | gnomAD | |
| rs1427194225 | 3502 | V>I | No | Ensembl | |
| rs1427194225 | 3502 | V>L | No | Ensembl | |
| rs775014029 | 3505 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs942531992 | 3506 | E>D | No | TOPMed | |
| rs760367772 | 3507 | S>G | No |
ExAC gnomAD |
|
| rs1358675627 | 3508 | S>G | No |
TOPMed gnomAD |
|
| rs1260089933 | 3508 | S>T | No | gnomAD | |
| rs2154031374 | 3511 | L>Q | No | Ensembl | |
| rs148462839 | 3511 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1564068486 | 3515 | V>G | No | Ensembl | |
| rs2096036341 | 3516 | I>V | No | TOPMed | |
| rs2096037224 | 3520 | P>S | No | gnomAD | |
| rs1283849328 | 3522 | V>I | No | gnomAD | |
| rs751663505 | 3523 | E>A | No |
ExAC gnomAD |
|
| rs781552524 | 3525 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs752911811 | 3526 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs1201650214 | 3527 | S>* | No | Ensembl | |
| COSM4816831 | 3527 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1182088490 | 3530 | E>D | No | gnomAD | |
| rs2096041222 | 3535 | T>S | No | TOPMed | |
| TCGA novel | 3536 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs919212543 | 3536 | R>S | No |
TOPMed gnomAD |
|
| rs756441586 | 3538 | I>M | No |
ExAC gnomAD |
|
| rs1479475117 | 3539 | W>C | No | gnomAD | |
| rs749780624 | 3540 | D>G | No |
ExAC gnomAD |
|
| rs1176893982 | 3542 | S>A | No |
TOPMed gnomAD |
|
| rs1176893982 | 3542 | S>P | No |
TOPMed gnomAD |
|
| rs1446119666 | 3543 | I>T | No | gnomAD | |
| rs200579638 | 3544 | E>K | No | 1000Genomes | |
| COSM4834014 | 3548 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768351547 | 3549 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1327118343 | 3552 | D>E | No |
TOPMed gnomAD |
|
| rs1280167255 | 3558 | H>N | No | gnomAD | |
| rs2096047339 | 3558 | H>R | No | Ensembl | |
| rs1564069742 | 3559 | A>S | No | gnomAD | |
| rs1564069742 | 3559 | A>T | No | gnomAD | |
| rs779374859 | 3562 | P>Q | No |
ExAC gnomAD |
|
| rs757771113 | 3562 | P>S | No |
ExAC gnomAD |
|
| rs757771113 | 3562 | P>T | No |
ExAC gnomAD |
|
| rs1249035991 | 3563 | Q>P | No | gnomAD | |
|
RCV000852979 rs786205727 RCV000170704 CA300918 COSM4848792 COSM4848791 |
3565 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP gnomAD |
| TCGA novel | 3566 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2096169607 | 3566 | Q>P | No | gnomAD | |
| TCGA novel | 3568 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs112992189 | 3569 | I>T | No | Ensembl | |
| rs1165888862 | 3571 | E>K | No | gnomAD | |
| rs749096748 | 3572 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs2096171360 | 3572 | R>S | No | Ensembl | |
| COSM732901 | 3572 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2096171554 | 3573 | L>R | No | Ensembl | |
| rs2096171954 | 3575 | Y>H | No |
TOPMed gnomAD |
|
| rs1325437736 | 3576 | I>T | No | gnomAD | |
| TCGA novel | 3577 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759507727 | 3577 | A>V | No |
ExAC gnomAD |
|
| rs767725839 | 3578 | D>E | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 3578 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2096173370 | 3580 | L>F | No | TOPMed | |
| rs2096173370 | 3580 | L>V | No | TOPMed | |
|
rs2154037302 RCV002265517 |
3581 | G>missing | No |
ClinVar dbSNP |
|
| rs2154037347 | 3581 | G>V | No | Ensembl | |
| TCGA novel | 3584 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1357856654 | 3587 | L>F | No | gnomAD | |
| rs2096341677 | 3588 | A>V | No | TOPMed | |
| rs755784360 | 3589 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs755784360 | 3589 | R>T | No |
ExAC TOPMed gnomAD |
|
| rs2096342534 | 3591 | L>V | No | Ensembl | |
| rs777495627 | 3592 | D>N | No |
ExAC gnomAD |
|
| rs2096342970 | 3594 | T>N | No | Ensembl | |
| COSM732900 | 3597 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1349611633 | 3599 | H>Q | No | Ensembl | |
| rs748826892 | 3600 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs748826892 | 3600 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs1219075437 | 3600 | Q>R | No | TOPMed | |
|
COSM4121481 COSM4121482 |
3602 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1272478291 | 3602 | R>G | No |
TOPMed gnomAD |
|
| rs374991526 | 3602 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1057521529 | 3603 | I>F | No | gnomAD | |
| rs2154047463 | 3603 | I>T | No | Ensembl | |
|
COSM4458325 COSM4458324 rs2096345648 |
3606 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs2096345648 | 3606 | P>T | No | TOPMed | |
| COSM298579 | 3608 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA301076 RCV000170740 rs786205737 |
3609 | L>F | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs369777545 | 3611 | D>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs2096346649 | 3612 | Q>R | No | TOPMed | |
| rs1369951523 | 3613 | S>G | No | gnomAD | |
| rs2096347392 | 3614 | H>Q | No | gnomAD | |
|
RCV000523085 CA3052142 rs757161574 |
3614 | H>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1450929705 | 3615 | A>T | No | gnomAD | |
|
rs1157491049 RCV001766237 |
3616 | L>P | No |
ClinVar dbSNP gnomAD |
|
| rs1157491049 | 3616 | L>Q | No | gnomAD | |
| rs2096348187 | 3618 | K>N | No | TOPMed | |
| rs948626448 | 3623 | R>K | No | gnomAD | |
| rs2096348934 | 3623 | R>S | No | TOPMed | |
| rs1589142030 | 3624 | D>G | No | Ensembl | |
|
RCV002224597 rs1452452404 |
3625 | G>E | No |
ClinVar dbSNP gnomAD |
|
| rs1589142131 | 3626 | K>E | No | Ensembl | |
| rs1190880233 | 3626 | K>T | No |
TOPMed gnomAD |
|
| rs1564099462 | 3627 | H>P | No | TOPMed | |
| rs1564099462 | 3627 | H>R | No | TOPMed | |
| rs1028955808 | 3627 | H>Y | No | Ensembl | |
| TCGA novel | 3628 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2096350631 | 3629 | T>A | No | TOPMed | |
| rs1260243943 | 3629 | T>I | No | gnomAD | |
| rs2154052639 | 3630 | D>E | No | Ensembl | |
| rs763321996 | 3630 | D>V | No | ExAC | |
| rs2154052657 | 3631 | T>I | No | Ensembl | |
| rs2154052657 | 3631 | T>N | No | Ensembl | |
| rs2154052657 | 3631 | T>S | No | Ensembl | |
| rs2154052652 | 3631 | T>S | No | Ensembl | |
| TCGA novel | 3632 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766668514 | 3632 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs1356610948 | 3632 | N>K | No |
TOPMed gnomAD |
|
| rs766668514 | 3632 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs766668514 | 3632 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs2154052668 | 3632 | N>Y | No | Ensembl | |
| rs2154052691 | 3633 | L>F | No | Ensembl | |
| rs2154052703 | 3633 | L>H | No | Ensembl | |
| rs2154052691 | 3633 | L>I | No | Ensembl | |
| rs2154052691 | 3633 | L>V | No | Ensembl | |
| rs66785829 | 3634 | V>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs143228029 | 3634 | V>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs66785829 | 3634 | V>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs143228029 | 3634 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs763711118 | 3635 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs753253830 | 3635 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs2154052750 | 3635 | E>G | No | Ensembl | |
| rs763711118 | 3635 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs763711118 | 3635 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs2154052750 | 3635 | E>V | No | Ensembl | |
| rs2154052779 | 3636 | C>* | No | Ensembl | |
| rs2154052758 | 3636 | C>G | No | Ensembl | |
| rs2154052758 | 3636 | C>R | No | Ensembl | |
| rs1487810767 | 3636 | C>S | No |
TOPMed gnomAD |
|
| rs2154052758 | 3636 | C>S | No | Ensembl | |
| rs2154052779 | 3636 | C>W | No | Ensembl | |
| rs1487810767 | 3636 | C>Y | No |
TOPMed gnomAD |
|
| rs2154052788 | 3637 | L>H | No | Ensembl | |
| rs2154052788 | 3637 | L>P | No | Ensembl | |
| rs2154052806 | 3638 | T>I | No | Ensembl | |
| rs2154052806 | 3638 | T>N | No | Ensembl | |
| rs2154052806 | 3638 | T>S | No | Ensembl | |
| rs2154052832 | 3639 | K>* | No | Ensembl | |
| rs2154052832 | 3639 | K>E | No | Ensembl | |
| rs2154052836 | 3639 | K>M | No | Ensembl | |
| rs2154052844 | 3639 | K>N | No | Ensembl | |
| rs2154052850 | 3640 | I>F | No | Ensembl | |
| rs2154052869 | 3640 | I>M | No | Ensembl | |
| rs2154052859 | 3640 | I>N | No | Ensembl | |
| rs2154052879 | 3641 | N>D | No | Ensembl | |
| rs2154052886 | 3641 | N>I | No | Ensembl | |
| rs140221104 | 3641 | N>K | No |
ESP TOPMed |
|
| rs2154052886 | 3641 | N>S | No | Ensembl | |
| rs2154052879 | 3641 | N>Y | No | Ensembl | |
| rs757033443 | 3642 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs757939990 | 3642 | R>P | No |
ExAC gnomAD |
|
| rs757939990 | 3642 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2154052925 | 3643 | M>L | No | Ensembl | |
| rs2154052951 | 3644 | D>E | No | Ensembl | |
|
RCV002224234 RCV002443270 rs997833950 |
3644 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs2154052932 | 3644 | D>H | No | Ensembl | |
| rs2154052932 | 3644 | D>N | No | Ensembl | |
| rs997833950 | 3644 | D>V | No |
TOPMed gnomAD |
|
| rs2154052932 | 3644 | D>Y | No | Ensembl | |
| rs1298045728 | 3645 | I>F | No | gnomAD | |
| rs143932461 | 3645 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2154052964 | 3645 | I>N | No | Ensembl | |
| rs2154052964 | 3645 | I>T | No | Ensembl | |
| rs1298045728 | 3645 | I>V | No | gnomAD | |
| rs2154052998 | 3646 | V>A | No | Ensembl | |
| rs2154052998 | 3646 | V>D | No | Ensembl | |
| rs2096457857 | 3646 | V>F | No | Ensembl | |
| rs2154052998 | 3646 | V>G | No | Ensembl | |
| rs2096457857 | 3646 | V>I | No | Ensembl | |
| rs2096457857 | 3646 | V>L | No | Ensembl | |
| rs2154053010 | 3647 | H>D | No | Ensembl | |
| TCGA novel | 3647 | H>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2154053019 | 3647 | H>L | No | Ensembl | |
| rs2154053019 | 3647 | H>P | No | Ensembl | |
| rs2154053010 | 3647 | H>Y | No | Ensembl | |
|
COSM1137129 rs2154053033 |
3648 | L>H | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2154053033 | 3648 | L>P | No | Ensembl | |
| rs145856327 | 3649 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs779672757 | 3649 | M>T | No |
ExAC gnomAD |
|
| rs746987182 | 3650 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs1341951593 | 3650 | E>D | No | Ensembl | |
| rs2154053092 | 3650 | E>G | No | Ensembl | |
| rs746987182 | 3650 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs2154053092 | 3650 | E>V | No | Ensembl | |
| rs754847234 | 3651 | T>A | No |
ExAC gnomAD |
|
| rs2154053125 | 3651 | T>I | No | Ensembl | |
| rs2154053125 | 3651 | T>N | No | Ensembl | |
|
COSM1559694 rs754847234 |
3651 | T>S | central_nervous_system [Cosmic] | No |
cosmic curated ExAC gnomAD |
|
COSM1559694 rs2154053125 |
3651 | T>S | central_nervous_system [Cosmic] | No |
cosmic curated Ensembl |
| rs2154053167 | 3652 | N>I | No | Ensembl | |
| rs2154053177 | 3652 | N>K | No | Ensembl | |
| rs2154053167 | 3652 | N>S | No | Ensembl | |
| rs2154053167 | 3652 | N>T | No | Ensembl | |
|
rs1278386271 COSM1426470 |
3653 | T>A | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
|
VAR_035608 rs2154053205 COSM6166221 COSM33084 |
3653 | T>K | lung Variant assessed as Somatic; MODERATE impact. large_intestine a colorectal cancer sample; somatic mutation [Cosmic, NCI-TCGA, UniProt] | No |
NCI-TCGA Cosmic cosmic curated Ensembl UniProt |
| rs2154053205 | 3653 | T>R | No | Ensembl | |
| rs1278386271 | 3653 | T>S | No | Ensembl | |
| rs1564112382 | 3654 | E>D | No | Ensembl | |
| rs2154053225 | 3654 | E>G | No | Ensembl | |
| rs2154053217 | 3654 | E>K | No | Ensembl | |
| rs2154053217 | 3654 | E>Q | No | Ensembl | |
| rs2154053225 | 3654 | E>V | No | Ensembl | |
| rs1399040145 | 3655 | P>A | No |
TOPMed gnomAD |
|
|
COSM331394 rs2154053249 |
3655 | P>H | lung [Cosmic] | No |
cosmic curated Ensembl |
|
RCV001578239 rs2154053249 |
3655 | P>L | No |
ClinVar Ensembl dbSNP |
|
| rs2154053249 | 3655 | P>R | No | Ensembl | |
| rs1399040145 | 3655 | P>S | No |
TOPMed gnomAD |
|
| rs1399040145 | 3655 | P>T | No |
TOPMed gnomAD |
|
|
COSM5829791 COSM1426473 rs2154053268 |
3656 | L>F | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1383189894 | 3656 | L>H | No | TOPMed | |
| rs2154053268 | 3656 | L>V | No | Ensembl | |
| rs2154053285 | 3657 | Q>* | No | Ensembl | |
| rs2154053285 | 3657 | Q>E | No | Ensembl | |
| rs2154053298 | 3657 | Q>H | No | Ensembl | |
| rs2154053285 | 3657 | Q>K | No | Ensembl | |
| rs2154053294 | 3657 | Q>L | No | Ensembl | |
| rs2154053294 | 3657 | Q>R | No | Ensembl | |
| rs1488355875 | 3658 | E>* | No | gnomAD | |
| rs2154053317 | 3658 | E>D | No | Ensembl | |
| rs1488355875 | 3658 | E>K | No | gnomAD | |
| rs1488355875 | 3658 | E>Q | No | gnomAD | |
| rs2154053313 | 3658 | E>V | No | Ensembl | |
| rs370699621 | 3659 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs556640912 | 3659 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs370699621 | 3659 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2154053342 | 3660 | I>F | No | Ensembl | |
| rs2154053355 | 3660 | I>M | No | Ensembl | |
| rs2154053348 | 3660 | I>N | No | Ensembl | |
| rs2154053348 | 3660 | I>S | No | Ensembl | |
| rs2154053348 | 3660 | I>T | No | Ensembl | |
| rs2154053368 | 3661 | S>C | No | Ensembl | |
| rs2154053373 | 3661 | S>N | No | Ensembl | |
| rs544195596 | 3661 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs2154053373 | 3661 | S>T | No | Ensembl | |
| rs2154053392 | 3662 | H>D | No | Ensembl | |
| rs866846278 | 3662 | H>L | No | Ensembl | |
| rs2154053403 | 3662 | H>Q | No | Ensembl | |
| rs866846278 | 3662 | H>R | No | Ensembl | |
| rs2154053392 | 3662 | H>Y | No | Ensembl | |
| rs2154053411 | 3663 | S>C | No | Ensembl | |
| rs2154053411 | 3663 | S>G | No | Ensembl | |
| rs2154053418 | 3663 | S>I | No | Ensembl | |
| rs2154053418 | 3663 | S>N | No | Ensembl | |
| rs1369516641 | 3663 | S>R | No |
TOPMed gnomAD |
|
| rs2154053418 | 3663 | S>T | No | Ensembl | |
| rs749476928 | 3664 | Y>* | No |
ExAC TOPMed gnomAD |
|
| rs2154053434 | 3664 | Y>F | No | Ensembl | |
| rs2154053428 | 3664 | Y>N | No | Ensembl | |
| rs2154053452 | 3665 | A>E | No | Ensembl | |
| rs2154053452 | 3665 | A>G | No | Ensembl | |
| rs2154053444 | 3665 | A>P | No | Ensembl | |
| rs2154053444 | 3665 | A>S | No | Ensembl | |
| rs2154053444 | 3665 | A>T | No | Ensembl | |
| rs2154053452 | 3665 | A>V | No | Ensembl | |
| rs2096459863 | 3666 | E>* | No | gnomAD | |
| rs1301887987 | 3666 | E>A | No |
TOPMed gnomAD |
|
| rs2154053484 | 3666 | E>D | No | Ensembl | |
| rs1301887987 | 3666 | E>G | No |
TOPMed gnomAD |
|
| rs2096459863 | 3666 | E>K | No | gnomAD | |
| rs2096459863 | 3666 | E>Q | No | gnomAD | |
| rs1301887987 | 3666 | E>V | No |
TOPMed gnomAD |
|
| rs2154053497 | 3667 | I>N | No | Ensembl | |
| rs2154053497 | 3667 | I>S | No | Ensembl | |
| rs2154053497 | 3667 | I>T | No | Ensembl | |
| rs2154053506 | 3668 | E>* | No | Ensembl | |
| rs2154053509 | 3668 | E>A | No | Ensembl | |
| rs771352067 | 3668 | E>D | No |
ExAC gnomAD |
|
| rs2154053509 | 3668 | E>G | No | Ensembl | |
| rs2154053506 | 3668 | E>K | No | Ensembl | |
| rs2154053506 | 3668 | E>Q | No | Ensembl | |
| rs2154053509 | 3668 | E>V | No | Ensembl | |
| rs2154053517 | 3669 | Q>* | No | Ensembl | |
| rs2154053517 | 3669 | Q>E | No | Ensembl | |
| rs2154053532 | 3669 | Q>H | No | Ensembl | |
| rs2154053517 | 3669 | Q>K | No | Ensembl | |
| rs2154053524 | 3669 | Q>L | No | Ensembl | |
| rs45608232 | 3670 | T>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2154053559 | 3671 | I>M | No | Ensembl | |
| rs1202022678 | 3671 | I>N | No |
TOPMed gnomAD |
|
| rs1202022678 | 3671 | I>T | No |
TOPMed gnomAD |
|
| rs1360150521 | 3671 | I>V | No | gnomAD | |
| rs760126872 | 3672 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs760126872 | 3672 | T>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 3672 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760126872 | 3672 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2154053570 | 3672 | T>S | No | Ensembl | |
| rs2154053595 | 3673 | L>M | No | Ensembl | |
| rs2154053595 | 3673 | L>V | No | Ensembl | |
| rs2154053621 | 3674 | D>E | No | Ensembl | |
| rs2154053612 | 3674 | D>G | No | Ensembl | |
| rs1313195804 | 3674 | D>H | No | gnomAD | |
| rs1313195804 | 3674 | D>N | No | gnomAD | |
| rs2154053612 | 3674 | D>V | No | Ensembl | |
| rs1313195804 | 3674 | D>Y | No | gnomAD | |
| rs2154053627 | 3675 | H>D | No | Ensembl | |
| rs2154053627 | 3675 | H>N | No | Ensembl | |
| rs767903220 | 3675 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs2154053627 | 3675 | H>Y | No | Ensembl | |
| rs2096460997 | 3676 | S>G | No | TOPMed | |
| rs886059017 | 3676 | S>N | No |
TOPMed gnomAD |
|
| rs2154053642 | 3676 | S>R | No | Ensembl | |
| rs2154053663 | 3677 | E>D | No | Ensembl | |
| rs2154053657 | 3677 | E>G | No | Ensembl | |
|
rs2154053648 COSM345584 |
3677 | E>K | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2154053648 | 3677 | E>Q | No | Ensembl | |
| rs2154053657 | 3677 | E>V | No | Ensembl | |
| rs2154053669 | 3678 | G>R | No | Ensembl | |
| rs2154053669 | 3678 | G>W | No | Ensembl | |
| rs2096583360 | 3679 | F>L | No | Ensembl | |
| rs2096583297 | 3679 | F>S | No | Ensembl | |
| rs1260285381 | 3682 | L>V | No |
TOPMed gnomAD |
|
|
CA10581484 RCV000224981 rs878853166 |
3683 | Q>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2096583725 | 3683 | Q>P | No |
TOPMed gnomAD |
|
| rs772824755 | 3685 | E>Q | No |
ExAC gnomAD |
|
| rs2096583913 | 3685 | E>V | No | TOPMed | |
| rs2096584101 | 3686 | L>F | No | TOPMed | |
| rs1444271452 | 3686 | L>I | No | gnomAD | |
| rs143803967 | 3687 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1371973611 | 3688 | T>A | No |
TOPMed gnomAD |
|
| rs2096584599 | 3689 | A>V | No | Ensembl | |
| TCGA novel | 3693 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1284927438 | 3694 | K>R | No | gnomAD | |
| TCGA novel | 3694 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs199473347 | 3696 | E>Q | No |
ExAC gnomAD |
|
| rs2096585066 | 3697 | Q>R | No | Ensembl | |
| rs2096585132 | 3698 | A>V | No | gnomAD | |
| rs868127762 | 3699 | V>A | No | Ensembl | |
| rs767303472 | 3699 | V>I | No |
ExAC gnomAD |
|
| rs2096585329 | 3700 | S>F | No | Ensembl | |
| rs1405287423 | 3703 | S>N | No |
TOPMed gnomAD |
|
| rs886965541 | 3704 | E>K | No | gnomAD | |
| TCGA novel | 3704 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1231735514 | 3705 | T>I | No | gnomAD | |
| rs1431671939 | 3706 | C>* | No |
TOPMed gnomAD |
|
| rs1200239241 | 3706 | C>G | No | gnomAD | |
| rs1176044437 | 3707 | D>V | No |
TOPMed gnomAD |
|
| rs777872966 | 3708 | H>P | No |
ExAC TOPMed gnomAD |
|
| rs753907196 | 3708 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs777872966 | 3708 | H>R | No |
ExAC TOPMed gnomAD |
|
|
RCV000436714 rs1057522339 CA16604568 |
3709 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs757554789 | 3710 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1326750871 | 3710 | P>S | No | gnomAD | |
| rs779012880 | 3711 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs779012880 | 3711 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs779012880 | 3711 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs2154060393 | 3713 | S>* | No | Ensembl | |
| rs2096586862 | 3715 | E>G | No | Ensembl | |
| rs1222497914 | 3715 | E>Q | No | gnomAD | |
| rs578234319 | 3717 | I>V | No |
1000Genomes ExAC gnomAD |
|
| rs769252893 | 3718 | S>C | No |
ExAC gnomAD |
|
|
COSM4328991 COSM3007211 |
3718 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1223257116 | 3721 | Y>S | No | gnomAD | |
|
COSM3599288 COSM3599287 |
3722 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1271117495 | 3723 | T>A | No |
TOPMed gnomAD |
|
| rs772917225 | 3724 | F>C | No |
ExAC TOPMed gnomAD |
|
| rs772917225 | 3724 | F>S | No |
ExAC TOPMed gnomAD |
|
| rs1373910954 | 3726 | D>E | No | gnomAD | |
| rs762384095 | 3726 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs2154060462 | 3726 | D>N | No | Ensembl | |
| rs1404570597 | 3727 | G>D | No | gnomAD | |
|
RCV002436995 RCV001812276 rs773907372 |
3728 | V>I | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs2096587836 RCV001090888 |
3730 | K>E | No |
ClinVar Ensembl dbSNP |
|
| rs759182751 | 3732 | E>K | No |
ExAC gnomAD |
|
| rs1195945934 | 3733 | G>V | No | gnomAD | |
|
COSM5886324 COSM5886323 |
3733 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1363129455 | 3735 | S>C | No | gnomAD | |
| TCGA novel | 3736 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1327836292 | 3738 | T>R | No | gnomAD | |
| rs1433278591 | 3739 | A>S | No | gnomAD | |
| rs35530544 | 3740 | L>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1694850 rs749355859 |
3742 | P>S | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs372212045 | 3744 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs2096589387 | 3747 | E>G | No | Ensembl | |
| rs758624781 | 3748 | Q>K | No |
ExAC gnomAD |
|
| rs1564137636 | 3748 | Q>R | No | Ensembl | |
| COSM1050257 | 3749 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 3749 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 3752 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM278817 | 3753 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 3755 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 3756 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1241280456 | 3757 | M>I | No |
TOPMed gnomAD |
|
| rs747372236 | 3759 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs2096589931 | 3761 | P>S | No | TOPMed | |
| rs1383322375 | 3762 | E>D | No |
TOPMed gnomAD |
|
| rs748648366 | 3763 | E>G | No |
ExAC gnomAD |
|
| rs1241966149 | 3763 | E>K | No | TOPMed | |
| rs748648366 | 3763 | E>V | No |
ExAC gnomAD |
|
| TCGA novel | 3764 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770370534 | 3765 | S>A | No |
ExAC gnomAD |
|
| rs770370534 | 3765 | S>P | No |
ExAC gnomAD |
|
| rs572331812 | 3768 | Y>C | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 3769 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs2154065736 |
3773 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2154065748 | 3774 | V>E | No | Ensembl | |
| rs771510196 | 3774 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1733991367 | 3775 | T>A | No | gnomAD | |
| rs962900143 | 3775 | T>I | No |
TOPMed gnomAD |
|
| rs962900143 | 3775 | T>K | No |
TOPMed gnomAD |
|
| rs962900143 | 3775 | T>R | No |
TOPMed gnomAD |
|
| rs1733991367 | 3775 | T>S | No | gnomAD | |
| rs746620876 | 3776 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1049357231 | 3776 | T>S | No | gnomAD | |
| rs2154065785 | 3777 | P>L | No | Ensembl | |
| rs2154065785 | 3777 | P>Q | No | Ensembl | |
| rs2154065785 | 3777 | P>R | No | Ensembl | |
| rs2154065799 | 3778 | G>* | No | Ensembl | |
| rs2154065804 | 3778 | G>A | No | Ensembl | |
|
COSM1050258 rs2154065804 |
3778 | G>E | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2154065799 | 3778 | G>R | No | Ensembl | |
|
COSM139538 rs2154065804 |
3778 | G>V | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs2154065812 | 3779 | T>A | No | Ensembl | |
| rs2096655413 | 3779 | T>I | No | TOPMed | |
| rs2096655413 | 3779 | T>K | No | TOPMed | |
| rs2096655413 | 3779 | T>R | No | TOPMed | |
| rs2154065812 | 3779 | T>S | No | Ensembl | |
| rs2154065843 | 3780 | E>D | No | Ensembl | |
|
COSM4401978 COSM4401979 |
3780 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2154065833 | 3780 | E>V | No | Ensembl | |
| rs768457889 | 3781 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs2154065852 | 3781 | T>I | No | Ensembl | |
| rs2154065852 | 3781 | T>R | No | Ensembl | |
| rs768457889 | 3781 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs2154065864 | 3782 | S>P | No | Ensembl | |
| rs2154065864 | 3782 | S>T | No | Ensembl | |
| rs2154065885 | 3783 | E>D | No | Ensembl | |
| rs2154065876 | 3783 | E>K | No | Ensembl | |
| rs2154065876 | 3783 | E>Q | No | Ensembl | |
| rs2154065881 | 3783 | E>V | No | Ensembl | |
| rs2154065897 | 3784 | T>A | No | Ensembl | |
| rs2154065897 | 3784 | T>S | No | Ensembl | |
| rs2154065900 | 3784 | T>S | No | Ensembl | |
| rs1168726380 | 3785 | Q>* | No |
TOPMed gnomAD |
|
| rs1168726380 | 3785 | Q>E | No |
TOPMed gnomAD |
|
| rs2154065919 | 3785 | Q>H | No | Ensembl | |
| rs1168726380 | 3785 | Q>K | No |
TOPMed gnomAD |
|
| rs150808807 | 3785 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2154065922 | 3786 | K>* | No | Ensembl | |
| rs1268936710 | 3786 | K>N | No | gnomAD | |
| rs2154065940 | 3787 | A>D | No | Ensembl | |
| rs2154065940 | 3787 | A>G | No | Ensembl | |
| rs2154065927 | 3787 | A>P | No | Ensembl | |
| rs2154065927 | 3787 | A>S | No | Ensembl | |
| rs2154065927 | 3787 | A>T | No | Ensembl | |
|
TCGA novel rs2154065940 |
3787 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2154065956 | 3788 | M>I | No | Ensembl | |
| rs2154065951 | 3788 | M>K | No | Ensembl | |
| rs761695310 | 3788 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs2154065951 | 3788 | M>R | No | Ensembl | |
| rs2154065951 | 3788 | M>T | No | Ensembl | |
| rs761695310 | 3788 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs2096655901 | 3789 | I>K | No | TOPMed | |
| rs2154065964 | 3789 | I>L | No | Ensembl | |
| rs953222480 | 3789 | I>M | No |
TOPMed gnomAD |
|
| rs2096655901 | 3789 | I>R | No | TOPMed | |
| rs2096655901 | 3789 | I>T | No | TOPMed | |
| rs2154065964 | 3789 | I>V | No | Ensembl | |
| rs2154065987 | 3790 | V>A | No | Ensembl | |
| rs2154065987 | 3790 | V>E | No | Ensembl | |
| rs2154065987 | 3790 | V>G | No | Ensembl | |
| rs2154065982 | 3790 | V>I | No | Ensembl | |
| rs2154065982 | 3790 | V>L | No | Ensembl | |
| rs2154065996 | 3791 | P>A | No | Ensembl | |
| rs2154066002 | 3791 | P>H | No | Ensembl | |
| rs2154066002 | 3791 | P>L | No | Ensembl | |
| rs2154066002 | 3791 | P>R | No | Ensembl | |
| rs2154065996 | 3791 | P>S | No | Ensembl | |
| rs2154065996 | 3791 | P>T | No | Ensembl | |
| rs2154066019 | 3792 | S>C | No | Ensembl | |
| rs2154066023 | 3792 | S>N | No | Ensembl | |
| rs765214332 | 3792 | S>R | No |
ExAC gnomAD |
|
| rs2154066023 | 3792 | S>T | No | Ensembl | |
| rs2154066037 | 3793 | S>C | No | Ensembl | |
| rs2154066037 | 3793 | S>F | No | Ensembl | |
| rs2154066034 | 3793 | S>T | No | Ensembl | |
| rs2154066044 | 3794 | P>H | No | Ensembl | |
| rs2154066044 | 3794 | P>L | No | Ensembl | |
| rs2154066044 | 3794 | P>R | No | Ensembl | |
| rs2154066061 | 3795 | S>C | No | Ensembl | |
| rs2154066064 | 3795 | S>N | No | Ensembl | |
| rs2154066072 | 3795 | S>R | No | Ensembl | |
| rs2154066064 | 3795 | S>T | No | Ensembl | |
| rs2154066085 | 3796 | K>* | No | Ensembl | |
| rs2154066085 | 3796 | K>E | No | Ensembl | |
| rs2154066090 | 3796 | K>M | No | Ensembl | |
| rs2154066094 | 3796 | K>N | No | Ensembl | |
| rs2154066099 | 3797 | T>A | No | Ensembl | |
| rs1429502979 | 3797 | T>I | No | gnomAD | |
| rs1429502979 | 3797 | T>K | No | gnomAD | |
| rs2154066099 | 3797 | T>P | No | Ensembl | |
| rs1429502979 | 3797 | T>R | No | gnomAD | |
| rs2154066099 | 3797 | T>S | No | Ensembl | |
| rs1483776959 | 3798 | P>A | No |
TOPMed gnomAD |
|
|
COSM1186636 rs2154066131 |
3798 | P>H | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2154066131 | 3798 | P>L | No | Ensembl | |
| rs2154066131 | 3798 | P>R | No | Ensembl | |
| rs1483776959 | 3798 | P>S | No |
TOPMed gnomAD |
|
| rs1483776959 | 3798 | P>T | No |
TOPMed gnomAD |
|
| rs2096656574 | 3799 | E>A | No | TOPMed | |
| rs2154066153 | 3799 | E>D | No | Ensembl | |
| rs1564151311 | 3799 | E>K | No | Ensembl | |
| rs1564151311 | 3799 | E>Q | No | Ensembl | |
| rs2096656574 | 3799 | E>V | No | TOPMed | |
| rs1057522136 | 3800 | E>* | No | gnomAD | |
| rs940872521 | 3800 | E>D | No | Ensembl | |
| rs773222006 | 3800 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs1057522136 | 3800 | E>Q | No | gnomAD | |
| rs773222006 | 3800 | E>V | No |
ExAC TOPMed gnomAD |
|
| rs2096656853 | 3801 | V>A | No | Ensembl | |
| rs2096656853 | 3801 | V>D | No | Ensembl | |
| rs2096656853 | 3801 | V>G | No | Ensembl | |
| rs2154066171 | 3801 | V>L | No | Ensembl | |
| rs2154066191 | 3802 | S>C | No | Ensembl | |
| rs2154066191 | 3802 | S>G | No | Ensembl | |
| rs2096656921 | 3802 | S>N | No |
TOPMed gnomAD |
|
| rs763131837 | 3802 | S>R | No |
ExAC gnomAD |
|
| rs2096656921 | 3802 | S>T | No |
TOPMed gnomAD |
|
|
RCV001757339 rs985908804 |
3803 | T>N | No |
ClinVar TOPMed dbSNP |
|
| rs985908804 | 3803 | T>S | No | TOPMed | |
| rs2154066223 | 3804 | P>A | No | Ensembl | |
| rs766529051 | 3804 | P>H | No |
ExAC gnomAD |
|
| rs766529051 | 3804 | P>L | No |
ExAC gnomAD |
|
| rs766529051 | 3804 | P>R | No |
ExAC gnomAD |
|
| rs2154066223 | 3804 | P>S | No | Ensembl | |
|
rs2154066223 TCGA novel |
3804 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs751853731 | 3805 | A>E | No |
ExAC gnomAD |
|
| rs751853731 | 3805 | A>G | No |
ExAC gnomAD |
|
|
TCGA novel rs2096657257 |
3805 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2096657257 | 3805 | A>S | No | Ensembl | |
| rs2096657257 | 3805 | A>T | No | Ensembl | |
| rs751853731 | 3805 | A>V | No |
ExAC gnomAD |
|
| rs2154066267 | 3806 | E>D | No | Ensembl | |
| rs2154066263 | 3806 | E>K | No | Ensembl | |
| rs2154066263 | 3806 | E>Q | No | Ensembl | |
| rs2154066277 | 3807 | E>* | No | Ensembl | |
| rs2154066288 | 3807 | E>D | No | Ensembl | |
| rs2154066282 | 3807 | E>G | No | Ensembl | |
| rs2154066277 | 3807 | E>K | No | Ensembl | |
| rs2154066277 | 3807 | E>Q | No | Ensembl | |
| rs2154066311 | 3808 | E>D | No | Ensembl | |
| rs896595621 | 3808 | E>G | No | Ensembl | |
| rs2154066295 | 3808 | E>K | No | Ensembl | |
| rs2154066295 | 3808 | E>Q | No | Ensembl | |
| rs1399266461 | 3809 | K>* | No | gnomAD | |
| rs1399266461 | 3809 | K>E | No | gnomAD | |
| rs2154066322 | 3809 | K>M | No | Ensembl | |
| rs2154066326 | 3809 | K>N | No | Ensembl | |
| rs1399266461 | 3809 | K>Q | No | gnomAD | |
| rs2154066322 | 3809 | K>R | No | Ensembl | |
| rs2154066331 | 3810 | L>M | No | Ensembl | |
| rs2154066337 | 3810 | L>P | No | Ensembl | |
| rs2154066337 | 3810 | L>Q | No | Ensembl | |
| rs2154066331 | 3810 | L>V | No | Ensembl | |
| rs2154066363 | 3811 | Y>* | No | Ensembl | |
| rs2154066349 | 3811 | Y>D | No | Ensembl | |
| rs2154066353 | 3811 | Y>F | No | Ensembl | |
| rs2154066349 | 3811 | Y>H | No | Ensembl | |
| rs2154066349 | 3811 | Y>N | No | Ensembl | |
| rs2154066353 | 3811 | Y>S | No | Ensembl | |
| rs1389704040 | 3812 | L>F | No | gnomAD | |
| rs1389704040 | 3812 | L>I | No | gnomAD | |
| rs1389704040 | 3812 | L>V | No | gnomAD | |
| rs2154066387 | 3813 | Q>* | No | Ensembl | |
| rs755229114 | 3813 | Q>H | No |
ExAC gnomAD |
|
| rs2154066387 | 3813 | Q>K | No | Ensembl | |
| rs2154066392 | 3813 | Q>L | No | Ensembl | |
| rs2154066398 | 3814 | T>I | No | Ensembl | |
| rs2154066398 | 3814 | T>N | No | Ensembl | |
| rs2154066398 | 3814 | T>S | No | Ensembl | |
| rs753105287 | 3815 | P>A | No |
ExAC gnomAD |
|
| rs1311380584 | 3815 | P>L | No | gnomAD | |
| rs753105287 | 3815 | P>S | No |
ExAC gnomAD |
|
| rs753105287 | 3815 | P>T | No |
ExAC gnomAD |
|
| rs756639916 | 3816 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs756639916 | 3816 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs756639916 | 3816 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1209317369 | 3816 | T>S | No |
TOPMed gnomAD |
|
| rs2154066457 | 3817 | S>C | No | Ensembl | |
| rs2154066457 | 3817 | S>F | No | Ensembl | |
| rs2154066457 | 3817 | S>Y | No | Ensembl | |
| rs2154066471 | 3818 | S>C | No | Ensembl | |
| rs2154066471 | 3818 | S>G | No | Ensembl | |
| rs754056434 | 3818 | S>I | No |
TOPMed gnomAD |
|
| rs778361140 | 3818 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs754056434 | 3818 | S>T | No |
TOPMed gnomAD |
|
| rs749726394 | 3819 | E>D | No |
ExAC gnomAD |
|
| rs1203748896 | 3819 | E>K | No |
TOPMed gnomAD |
|
| rs2154066493 | 3819 | E>V | No | Ensembl | |
| rs138085317 | 3820 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs138085317 | 3820 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM5356258 rs199922285 COSM173293 |
3820 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs2096658814 | 3821 | G>* | No | Ensembl | |
| rs746712920 | 3821 | G>A | No |
ExAC gnomAD |
|
| TCGA novel | 3821 | G>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746712920 | 3821 | G>E | No |
ExAC gnomAD |
|
| rs2096658814 | 3821 | G>R | No | Ensembl | |
| rs79577190 | 3822 | G>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2154066548 | 3822 | G>R | No | Ensembl | |
| rs79577190 | 3822 | G>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs776355038 | 3823 | S>F | No |
ExAC gnomAD |
|
| rs2154066567 | 3823 | S>P | No | Ensembl | |
| rs2154066567 | 3823 | S>T | No | Ensembl | |
| rs2154066587 | 3824 | P>H | No | Ensembl | |
| rs2154066587 | 3824 | P>L | No | Ensembl | |
| rs2154066587 | 3824 | P>R | No | Ensembl | |
| rs747961230 | 3824 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs747961230 | 3824 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs786205728 | 3825 | I>F | No | Ensembl | |
| rs786205728 | 3825 | I>L | No | Ensembl | |
| rs2154066616 | 3825 | I>M | No | Ensembl | |
| rs1460900882 | 3825 | I>N | No | gnomAD | |
| rs1460900882 | 3825 | I>T | No | gnomAD | |
|
RCV000170716 CA300968 rs786205728 |
3825 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1312091704 | 3826 | I>K | No | Ensembl | |
| rs2154066624 | 3826 | I>L | No | Ensembl | |
| rs2154066637 | 3826 | I>M | No | Ensembl | |
| rs1312091704 | 3826 | I>R | No | Ensembl | |
| rs1312091704 | 3826 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1412829550 | 3827 | Q>* | No |
TOPMed gnomAD |
|
| rs1412829550 | 3827 | Q>E | No |
TOPMed gnomAD |
|
| rs2154066661 | 3827 | Q>H | No | Ensembl | |
| rs1412829550 | 3827 | Q>K | No |
TOPMed gnomAD |
|
| rs1554590231 | 3827 | Q>L | No | gnomAD | |
| rs2154066670 | 3828 | E>D | No | Ensembl | |
| rs866294744 | 3828 | E>K | No | Ensembl | |
| rs866294744 | 3828 | E>Q | No | Ensembl | |
| rs1168558028 | 3829 | P>A | No |
TOPMed gnomAD |
|
|
rs2096659859 COSM387480 |
3829 | P>H | lung [Cosmic] | No |
cosmic curated gnomAD |
| rs2096659859 | 3829 | P>R | No | gnomAD | |
| rs1168558028 | 3829 | P>T | No |
TOPMed gnomAD |
|
| rs2154066710 | 3830 | E>D | No | Ensembl | |
| rs1406909211 | 3830 | E>Q | No |
TOPMed gnomAD |
|
| rs2096660105 | 3831 | E>G | No | TOPMed | |
| rs2154066717 | 3831 | E>K | No | Ensembl | |
| rs2154066717 | 3831 | E>Q | No | Ensembl | |
| rs2096660105 | 3831 | E>V | No | TOPMed | |
| rs2154066738 | 3832 | P>A | No | Ensembl | |
| rs773234917 | 3832 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs773234917 | 3832 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs773234917 | 3832 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs2154066738 | 3832 | P>S | No | Ensembl | |
| rs2154066738 | 3832 | P>T | No | Ensembl | |
| rs2154066773 | 3833 | S>* | No | Ensembl | |
| rs2154066773 | 3833 | S>L | No | Ensembl | |
| rs2154066798 | 3834 | E>D | No | Ensembl | |
| rs2154066788 | 3834 | E>K | No | Ensembl | |
| rs2154066788 | 3834 | E>Q | No | Ensembl | |
| rs2154066796 | 3834 | E>V | No | Ensembl | |
| rs2154066807 | 3835 | H>D | No | Ensembl | |
| rs762934492 | 3835 | H>L | No |
ExAC gnomAD |
|
| rs2154066807 | 3835 | H>N | No | Ensembl | |
| rs2154066825 | 3835 | H>Q | No | Ensembl | |
| rs2154066807 | 3835 | H>Y | No | Ensembl | |
| rs2154066836 | 3836 | R>* | No | Ensembl | |
| rs2154066836 | 3836 | R>G | No | Ensembl | |
| rs2154066843 | 3836 | R>I | No | Ensembl | |
| rs2154066843 | 3836 | R>K | No | Ensembl | |
| rs2154066843 | 3836 | R>T | No | Ensembl | |
| rs2096660888 | 3837 | E>A | No |
TOPMed gnomAD |
|
| rs1305596790 | 3837 | E>D | No | gnomAD | |
| rs2096660888 | 3837 | E>G | No |
TOPMed gnomAD |
|
|
RCV003184540 rs766615247 |
3837 | E>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2096660888 | 3837 | E>V | No |
TOPMed gnomAD |
|
| rs1417566172 | 3838 | E>A | No |
TOPMed gnomAD |
|
| rs2154066877 | 3838 | E>D | No | Ensembl | |
| rs2154066864 | 3838 | E>K | No | Ensembl | |
| rs2154066864 | 3838 | E>Q | No | Ensembl | |
| rs1417566172 | 3838 | E>V | No |
TOPMed gnomAD |
|
| rs2154066882 | 3839 | S>C | No | Ensembl | |
| rs2154066882 | 3839 | S>G | No | Ensembl | |
|
rs148654834 COSM217294 |
3839 | S>N | liver [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs2154066894 | 3839 | S>R | No | Ensembl | |
| rs2154066900 | 3840 | S>A | No | Ensembl | |
| rs2096661181 | 3840 | S>C | No | Ensembl | |
| rs2096661181 | 3840 | S>F | No | Ensembl | |
| rs2154066900 | 3840 | S>P | No | Ensembl | |
| rs2154066900 | 3840 | S>T | No | Ensembl | |
| rs2096661181 | 3840 | S>Y | No | Ensembl | |
| rs767769233 | 3841 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs767769233 | 3841 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs2154066919 | 3841 | P>S | No | Ensembl | |
| rs2154066919 | 3841 | P>T | No | Ensembl | |
| rs770954138 | 3842 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1486003496 | 3843 | K>* | No | gnomAD | |
| rs2154066949 | 3843 | K>I | No | Ensembl | |
| rs2154066954 | 3843 | K>N | No | Ensembl | |
| rs1486003496 | 3843 | K>Q | No | gnomAD | |
| rs2154066949 | 3843 | K>R | No | Ensembl | |
| rs2154066949 | 3843 | K>T | No | Ensembl | |
| rs199473643 | 3844 | T>I | No |
ExAC gnomAD |
|
| rs1589260988 | 3844 | T>P | No | Ensembl | |
| rs199473643 | 3844 | T>S | No |
ExAC gnomAD |
|
| rs2154066977 | 3845 | S>C | No | Ensembl | |
| rs2154066977 | 3845 | S>G | No | Ensembl | |
| rs2154066982 | 3845 | S>N | No | Ensembl | |
| rs2154066977 | 3845 | S>R | No | Ensembl | |
| rs2154066986 | 3845 | S>R | No | Ensembl | |
| rs2154066982 | 3845 | S>T | No | Ensembl | |
| rs2154066989 | 3846 | L>F | No | Ensembl | |
| rs2096661814 | 3846 | L>H | No | gnomAD | |
| rs2154066989 | 3846 | L>I | No | Ensembl | |
| rs2096661814 | 3846 | L>P | No | gnomAD | |
| rs2154066989 | 3846 | L>V | No | Ensembl | |
|
RCV000586463 CA357942937 rs1554590569 |
3847 | V>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1554590569 | 3847 | V>G | No | Ensembl | |
| rs1448123780 | 3847 | V>L | No |
TOPMed gnomAD |
|
| rs2154067022 | 3848 | I>K | No | Ensembl | |
| rs2154067017 | 3848 | I>L | No | Ensembl | |
| rs2154067028 | 3848 | I>M | No | Ensembl | |
| rs2154067022 | 3848 | I>T | No | Ensembl | |
|
COSM1618300 rs1188474280 COSM3660849 |
3849 | V>A | liver [Cosmic] | No |
cosmic curated gnomAD |
| rs2154067033 | 3849 | V>L | No | Ensembl | |
| rs2154067033 | 3849 | V>M | No | Ensembl | |
| rs2154067060 | 3850 | E>D | No | Ensembl | |
| rs2096662213 | 3850 | E>G | No | Ensembl | |
| rs143985655 | 3850 | E>Q | No |
ESP ExAC gnomAD |
|
| rs2096662213 | 3850 | E>V | No | Ensembl | |
| rs1589261336 | 3851 | S>A | No | Ensembl | |
| rs1564155066 | 3851 | S>C | No | Ensembl | |
| rs1564155066 | 3851 | S>F | No | Ensembl | |
| rs1589261336 | 3851 | S>P | No | Ensembl | |
| rs1589261336 | 3851 | S>T | No | Ensembl | |
| rs1564155066 | 3851 | S>Y | No | Ensembl | |
| rs786205739 | 3852 | A>D | No | gnomAD | |
| rs2154067080 | 3852 | A>P | No | Ensembl | |
| rs2154067080 | 3852 | A>T | No | Ensembl | |
| rs786205739 | 3852 | A>V | No | gnomAD | |
| rs780909800 | 3853 | D>A | No |
ExAC gnomAD |
|
| rs1231180888 | 3853 | D>E | No | Ensembl | |
| rs780909800 | 3853 | D>G | No |
ExAC gnomAD |
|
| rs754642933 | 3853 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs780909800 | 3853 | D>V | No |
ExAC gnomAD |
|
| rs2154067120 | 3854 | N>D | No | Ensembl | |
| rs2154067120 | 3854 | N>H | No | Ensembl | |
| rs2154067129 | 3854 | N>K | No | Ensembl | |
| rs2154067120 | 3854 | N>Y | No | Ensembl | |
| rs2154067135 | 3855 | Q>* | No | Ensembl | |
| rs2154067135 | 3855 | Q>E | No | Ensembl | |
| rs1454479618 | 3855 | Q>H | No | gnomAD | |
| rs1490089497 | 3855 | Q>L | No | gnomAD | |
| rs1490089497 | 3855 | Q>R | No | gnomAD | |
| rs2154067152 | 3856 | P>A | No | Ensembl | |
| rs1290892227 | 3856 | P>L | No | gnomAD | |
| rs1290892227 | 3856 | P>R | No | gnomAD | |
| rs2154067152 | 3856 | P>S | No | Ensembl | |
| rs2154067152 | 3856 | P>T | No | Ensembl | |
| rs2154067187 | 3857 | E>D | No | Ensembl | |
| rs2154067179 | 3857 | E>G | No | Ensembl | |
| rs747716757 | 3857 | E>K | No |
ExAC gnomAD |
|
| rs747716757 | 3857 | E>Q | No |
ExAC gnomAD |
|
| rs2154067179 | 3857 | E>V | No | Ensembl | |
| rs2154067191 | 3858 | T>A | No | Ensembl | |
| rs2154067191 | 3858 | T>P | No | Ensembl | |
| rs2154067191 | 3858 | T>S | No | Ensembl | |
|
RCV002246955 rs2154067204 |
3859 | C>missing | No |
ClinVar dbSNP |
|
| rs1315574689 | 3859 | C>* | No |
TOPMed gnomAD |
|
| rs2154067216 | 3859 | C>F | No | Ensembl | |
| rs2154067209 | 3859 | C>G | No | Ensembl | |
| rs2154067209 | 3859 | C>R | No | Ensembl | |
| rs2154067216 | 3859 | C>S | No | Ensembl | |
| rs2154067209 | 3859 | C>S | No | Ensembl | |
| rs1315574689 | 3859 | C>W | No |
TOPMed gnomAD |
|
| rs2154067216 | 3859 | C>Y | No | Ensembl | |
| rs2154067229 | 3860 | E>K | No | Ensembl | |
| rs2154067229 | 3860 | E>Q | No | Ensembl | |
| rs2154067236 | 3860 | E>V | No | Ensembl | |
| rs2154067249 | 3861 | R>* | No | Ensembl | |
| rs2154067249 | 3861 | R>G | No | Ensembl | |
| rs2154067252 | 3861 | R>K | No | Ensembl | |
| rs777408433 | 3861 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs2154067252 | 3861 | R>T | No | Ensembl | |
| rs1243072873 | 3862 | L>F | No | gnomAD | |
| rs2154067271 | 3862 | L>H | No | Ensembl | |
| rs2154067296 | 3863 | D>A | No | Ensembl | |
| rs2154067303 | 3863 | D>E | No | Ensembl | |
| rs886039041 | 3863 | D>H | No | Ensembl | |
|
RCV001597033 COSM3825017 CA10587589 COSM3825018 RCV000250919 rs886039041 |
3863 | D>N | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| rs2154067296 | 3863 | D>V | No | Ensembl | |
| rs2154067321 | 3864 | E>D | No | Ensembl | |
| rs2154067315 | 3864 | E>G | No | Ensembl | |
| rs2154067310 | 3864 | E>K | No | Ensembl | |
| rs2154067310 | 3864 | E>Q | No | Ensembl | |
| rs2154067315 | 3864 | E>V | No | Ensembl | |
| rs774634789 | 3865 | D>E | No |
ExAC gnomAD |
|
| rs2154067330 | 3865 | D>H | No | Ensembl | |
| rs2154067330 | 3865 | D>N | No | Ensembl | |
| rs140606121 | 3865 | D>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs759705609 | 3866 | A>E | No |
ExAC gnomAD |
|
| rs759705609 | 3866 | A>G | No |
ExAC gnomAD |
|
| rs2154067349 | 3866 | A>P | No | Ensembl | |
| rs2154067349 | 3866 | A>T | No | Ensembl | |
| rs759705609 | 3866 | A>V | No |
ExAC gnomAD |
|
| rs2154067374 | 3867 | A>P | No | Ensembl | |
| rs2154067374 | 3867 | A>T | No | Ensembl | |
| rs2154067381 | 3867 | A>V | No | Ensembl | |
| rs2154067392 | 3868 | F>I | No | Ensembl | |
| rs775809535 | 3868 | F>L | No |
ExAC gnomAD |
|
| rs771982856 | 3868 | F>S | No |
ExAC gnomAD |
|
| rs771982856 | 3868 | F>Y | No |
ExAC gnomAD |
|
| rs2154067422 | 3869 | E>D | No | Ensembl | |
| rs2154067412 | 3869 | E>G | No | Ensembl | |
|
COSM6099087 COSM6099088 |
3869 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2154067412 | 3869 | E>V | No | Ensembl | |
| TCGA novel | 3870 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2154067425 | 3870 | K>R | No | Ensembl | |
| rs760993748 | 3871 | G>E | No |
ExAC gnomAD |
|
| rs2096797759 | 3874 | M>T | No | TOPMed | |
|
COSM4121489 COSM4121490 |
3874 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs762178965 | 3875 | P>A | No |
ExAC gnomAD |
|
| rs762178965 | 3875 | P>S | No |
ExAC gnomAD |
|
| rs1422093581 | 3878 | P>H | No |
1000Genomes TOPMed |
|
| rs1422093581 | 3878 | P>R | No |
1000Genomes TOPMed |
|
| rs369756604 | 3878 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1022217255 | 3879 | P>L | No |
TOPMed gnomAD |
|
| rs1216826006 | 3880 | E>G | No | gnomAD | |
| rs1185805940 | 3883 | T>A | No | gnomAD | |
| rs752145926 | 3884 | E>D | No |
ExAC TOPMed gnomAD |
|
|
rs202183785 CA300988 RCV000170720 |
3884 | E>K | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| COSM732899 | 3886 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1564181479 | 3888 | I>T | No | Ensembl | |
| rs763855448 | 3888 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs2096799610 | 3889 | D>E | No | TOPMed | |
| rs753477930 | 3890 | E>G | No |
ExAC gnomAD |
|
|
CA3052344 RCV000621323 rs778797451 |
3892 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs745862408 | 3893 | H>Y | No |
ExAC TOPMed gnomAD |
|
|
COSM4121492 COSM4121491 rs1318639708 |
3894 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1404361696 | 3894 | T>P | No | gnomAD | |
| rs2154074402 | 3899 | V>D | No | Ensembl | |
| rs2154074402 | 3899 | V>G | No | Ensembl | |
| rs878854256 | 3899 | V>I | No |
TOPMed gnomAD |
|
| rs878854256 | 3899 | V>L | No |
TOPMed gnomAD |
|
| rs2154074421 | 3900 | T>I | No | Ensembl | |
| rs2154074414 | 3900 | T>P | No | Ensembl | |
| rs2154074414 | 3900 | T>S | No | Ensembl | |
| rs2154074421 | 3900 | T>S | No | Ensembl | |
| rs2154074436 | 3901 | R>K | No | Ensembl | |
| rs2154074436 | 3901 | R>M | No | Ensembl | |
| rs2154074436 | 3901 | R>T | No | Ensembl | |
| rs2096807374 | 3901 | R>W | No | Ensembl | |
| rs2154074443 | 3902 | K>* | No | Ensembl | |
| rs930152524 | 3902 | K>N | No | Ensembl | |
| rs2154074451 | 3902 | K>R | No | Ensembl | |
| rs2154074465 | 3903 | I>M | No | Ensembl | |
| rs781227587 | 3903 | I>N | No |
ExAC gnomAD |
|
| rs781227587 | 3903 | I>S | No |
ExAC gnomAD |
|
| rs781227587 | 3903 | I>T | No |
ExAC gnomAD |
|
| rs2096807664 | 3904 | I>F | No | Ensembl | |
| rs2096807664 | 3904 | I>L | No | Ensembl | |
| rs2154074479 | 3904 | I>N | No | Ensembl | |
| rs2154074487 | 3905 | R>G | No | Ensembl | |
| rs1381836039 | 3905 | R>K | No |
TOPMed gnomAD |
|
| rs1381836039 | 3905 | R>M | No |
TOPMed gnomAD |
|
| rs1381836039 | 3905 | R>T | No |
TOPMed gnomAD |
|
| rs2154074487 | 3905 | R>W | No | Ensembl | |
| rs121912706 | 3906 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs770001324 | 3906 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs770001324 | 3906 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs2096808527 | 3907 | Y>* | No | Ensembl | |
| rs1554597581 | 3907 | Y>C | No |
1000Genomes TOPMed |
|
|
rs2154074518 TCGA novel |
3907 | Y>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1554597581 | 3907 | Y>F | No |
1000Genomes TOPMed |
|
| rs2154074518 | 3907 | Y>H | No | Ensembl | |
| rs2154074518 | 3907 | Y>N | No | Ensembl | |
| rs1554597581 | 3907 | Y>S | No |
1000Genomes TOPMed |
|
| rs2096808634 | 3908 | V>A | No | Ensembl | |
| rs2096808634 | 3908 | V>E | No | Ensembl | |
| rs2096808634 | 3908 | V>G | No | Ensembl | |
| rs2154074540 | 3908 | V>L | No | Ensembl | |
| rs2154074561 | 3909 | S>C | No | Ensembl | |
|
COSM3599298 COSM3599299 rs2154074561 |
3909 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2154074561 | 3909 | S>Y | No | Ensembl | |
| rs2154074580 | 3910 | S>C | No | Ensembl | |
|
rs2154074580 COSM336206 |
3910 | S>F | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1181940613 | 3910 | S>T | No |
TOPMed gnomAD |
|
| rs2154074596 | 3911 | E>D | No | Ensembl | |
| rs2154074591 | 3911 | E>G | No | Ensembl | |
| rs2154074591 | 3911 | E>V | No | Ensembl | |
| rs1421582181 | 3912 | G>A | No |
TOPMed gnomAD |
|
| rs2096809119 | 3912 | G>C | No | Ensembl | |
|
TCGA novel rs1421582181 |
3912 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
TCGA novel rs771262245 |
3913 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
| rs2154074625 | 3913 | T>I | No | Ensembl | |
| rs771262245 | 3913 | T>P | No |
ExAC gnomAD |
|
| rs2154074625 | 3913 | T>R | No | Ensembl | |
| rs771262245 | 3913 | T>S | No |
ExAC gnomAD |
|
| rs2154074637 | 3914 | E>* | No | Ensembl | |
| rs1471391110 | 3914 | E>D | No | gnomAD | |
| rs2154074644 | 3914 | E>G | No | Ensembl | |
|
TCGA novel rs2154074637 |
3914 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2154074637 | 3914 | E>Q | No | Ensembl | |
| rs2154074644 | 3914 | E>V | No | Ensembl | |
| rs1361290777 | 3915 | K>* | No | TOPMed | |
| rs1361290777 | 3915 | K>E | No | TOPMed | |
| rs2154074666 | 3915 | K>N | No | Ensembl | |
| rs2154074663 | 3915 | K>T | No | Ensembl | |
| rs2154074670 | 3916 | E>* | No | Ensembl | |
| rs2154074692 | 3916 | E>D | No | Ensembl | |
| rs2154074686 | 3916 | E>G | No | Ensembl | |
| rs2154074670 | 3916 | E>K | No | Ensembl | |
| rs2154074670 | 3916 | E>Q | No | Ensembl | |
| rs2154074701 | 3917 | E>D | No | Ensembl | |
| rs2154074695 | 3917 | E>K | No | Ensembl | |
| rs2154074695 | 3917 | E>Q | No | Ensembl | |
| rs2154074697 | 3917 | E>V | No | Ensembl | |
| rs2154074704 | 3918 | I>N | No | Ensembl | |
| rs2154074704 | 3918 | I>S | No | Ensembl | |
| rs2154074716 | 3919 | M>V | No | Ensembl | |
| rs2154074730 | 3920 | V>E | No | Ensembl | |
| rs2154074725 | 3920 | V>L | No | Ensembl | |
| rs2154074725 | 3920 | V>M | No | Ensembl | |
| rs768327292 | 3921 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs768327292 | 3921 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs2154074756 | 3921 | Q>R | No | Ensembl | |
| rs2154074762 | 3922 | G>* | No | Ensembl | |
| rs2154074772 | 3922 | G>A | No | Ensembl | |
| rs2154074772 | 3922 | G>E | No | Ensembl | |
| rs2154074762 | 3922 | G>R | No | Ensembl | |
| rs2154074787 | 3923 | M>K | No | Ensembl | |
| rs139125335 | 3923 | M>L | No |
ESP ExAC |
|
| rs2154074787 | 3923 | M>T | No | Ensembl | |
| rs2154074789 | 3924 | P>A | No | Ensembl | |
|
COSM3599301 COSM3599300 |
3924 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2154074789 | 3924 | P>S | No | Ensembl | |
| rs2154074789 | 3924 | P>T | No | Ensembl | |
| rs2154074800 | 3925 | Q>* | No | Ensembl | |
| rs2154074800 | 3925 | Q>E | No | Ensembl | |
| rs2154074812 | 3925 | Q>H | No | Ensembl | |
| rs2154074800 | 3925 | Q>K | No | Ensembl | |
| rs2154074804 | 3925 | Q>L | No | Ensembl | |
|
rs2154074804 RCV001811770 |
3925 | Q>P | No |
ClinVar Ensembl dbSNP |
|
| rs2154074804 | 3925 | Q>R | No | Ensembl | |
| rs2154074821 | 3926 | E>D | No | Ensembl | |
| rs2154074815 | 3926 | E>K | No | Ensembl | |
| rs2154074815 | 3926 | E>Q | No | Ensembl | |
| rs2154074817 | 3926 | E>V | No | Ensembl | |
| rs2154074826 | 3927 | P>A | No | Ensembl | |
| rs2154074832 | 3927 | P>H | No | Ensembl | |
| rs2154074832 | 3927 | P>L | No | Ensembl | |
| rs2154074826 | 3927 | P>S | No | Ensembl | |
| rs2154074826 | 3927 | P>T | No | Ensembl | |
| rs764969399 | 3928 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs764969399 | 3928 | V>D | No |
ExAC TOPMed gnomAD |
|
| rs764969399 | 3928 | V>G | No |
ExAC TOPMed gnomAD |
|
| rs2154074842 | 3928 | V>I | No | Ensembl | |
| rs2154074842 | 3928 | V>L | No | Ensembl | |
| rs2154074862 | 3929 | N>I | No | Ensembl | |
| rs2154074865 | 3929 | N>K | No | Ensembl | |
| COSM278818 | 3929 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2154074856 | 3929 | N>Y | No | Ensembl | |
| rs45517840 | 3930 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2154074875 | 3930 | I>N | No | Ensembl | |
| rs2154074875 | 3930 | I>T | No | Ensembl | |
| rs1206174921 | 3930 | I>V | No | gnomAD | |
|
rs45454496 RCV001757400 |
3931 | E>* | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2154074898 | 3931 | E>G | No | Ensembl | |
| rs45454496 | 3931 | E>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2154074898 | 3931 | E>V | No | Ensembl | |
| rs2154074915 | 3932 | E>* | No | Ensembl | |
| rs376081457 | 3932 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs2154074915 | 3932 | E>K | No | Ensembl | |
| rs2154074915 | 3932 | E>Q | No | Ensembl | |
|
rs751501210 RCV001758912 |
3933 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA dbSNP |
| rs2154074925 | 3933 | G>R | No | Ensembl | |
| rs1408198357 | 3934 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2096811290 | 3934 | D>H | No | Ensembl | |
| TCGA novel | 3934 | D>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2096811290 | 3934 | D>N | No | Ensembl | |
| rs2096811290 | 3934 | D>Y | No | Ensembl | |
| rs2096811646 | 3935 | G>A | No | TOPMed | |
| rs2096811646 | 3935 | G>D | No | TOPMed | |
| rs2154074960 | 3935 | G>S | No | Ensembl | |
| rs1243998592 | 3936 | Y>* | No |
TOPMed gnomAD |
|
| rs377555678 | 3936 | Y>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs2154074973 | 3936 | Y>H | No | Ensembl | |
| rs2154074973 | 3936 | Y>N | No | Ensembl | |
| rs377555678 | 3936 | Y>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2154074999 | 3937 | S>C | No | Ensembl | |
| rs2154074999 | 3937 | S>F | No | Ensembl | |
| rs2154074993 | 3937 | S>T | No | Ensembl | |
| rs2154074999 | 3937 | S>Y | No | Ensembl | |
| rs2154075020 | 3938 | K>* | No | Ensembl | |
| rs2154075020 | 3938 | K>E | No | Ensembl | |
| rs568549084 | 3938 | K>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV002329750 RCV001777104 rs568549084 |
3938 | K>T | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2154075031 | 3939 | V>D | No | Ensembl | |
| rs2154075031 | 3939 | V>G | No | Ensembl | |
| rs2154075046 | 3940 | I>L | No | Ensembl | |
| rs1350969060 | 3940 | I>M | No | TOPMed | |
| rs201966460 | 3940 | I>R | No |
1000Genomes ExAC gnomAD |
|
| rs2154075055 | 3941 | K>* | No | Ensembl | |
| rs2154075055 | 3941 | K>E | No | Ensembl | |
| rs2154075062 | 3941 | K>M | No | Ensembl | |
| rs542400709 | 3942 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1344245343 | 3942 | R>S | No |
TOPMed gnomAD |
|
| rs2154075088 | 3943 | V>D | No | Ensembl | |
| rs2154075085 | 3943 | V>I | No | Ensembl | |
| rs2154075085 | 3943 | V>L | No | Ensembl | |
| rs1253303416 | 3944 | V>E | No | gnomAD | |
| rs1253303416 | 3944 | V>G | No | gnomAD | |
| rs2154075097 | 3944 | V>I | No | Ensembl | |
| rs2154075097 | 3944 | V>L | No | Ensembl | |
| rs2154075113 | 3945 | L>* | No | Ensembl | |
| rs2154075121 | 3945 | L>F | No | Ensembl | |
| rs2154075130 | 3946 | K>* | No | Ensembl | |
| rs2154075130 | 3946 | K>E | No | Ensembl | |
| rs2154075134 | 3946 | K>M | No | Ensembl | |
| rs2154075141 | 3946 | K>N | No | Ensembl | |
| rs2154075149 | 3947 | S>C | No | Ensembl | |
| rs1481823362 | 3947 | S>N | No | gnomAD | |
| rs112417183 | 3947 | S>R | No | Ensembl | |
| rs1481823362 | 3947 | S>T | No | gnomAD | |
| rs1180995288 | 3948 | D>A | No | gnomAD | |
| rs1167408336 | 3948 | D>E | No |
TOPMed gnomAD |
|
| rs2154075162 | 3948 | D>H | No | Ensembl | |
|
COSM1182762 rs2154075162 |
3948 | D>N | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs1180995288 | 3948 | D>V | No | gnomAD | |
| rs2154075186 | 3949 | T>I | No | Ensembl | |
| rs2154075186 | 3949 | T>N | No | Ensembl | |
| rs2154075186 | 3949 | T>S | No | Ensembl | |
| rs2154075182 | 3949 | T>S | No | Ensembl | |
| rs746413508 | 3950 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs2096813687 | 3950 | E>D | No | gnomAD | |
| rs746413508 | 3950 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs2154075209 | 3950 | E>V | No | Ensembl | |
| rs1178733830 | 3951 | Q>* | No | gnomAD | |
| rs1178733830 | 3951 | Q>E | No | gnomAD | |
| rs2154075229 | 3951 | Q>H | No | Ensembl | |
| rs1178733830 | 3951 | Q>K | No | gnomAD | |
| rs2154075241 | 3952 | S>* | No | Ensembl | |
| rs2154075241 | 3952 | S>L | No | Ensembl | |
| rs2154075235 | 3952 | S>P | No | Ensembl | |
| rs2154075235 | 3952 | S>T | No | Ensembl | |
|
COSM5167726 COSM1426478 rs2154075263 |
3953 | E>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2154075260 | 3953 | E>G | No | Ensembl | |
| rs2154075251 | 3953 | E>K | No | Ensembl | |
| rs2154075251 | 3953 | E>Q | No | Ensembl | |
| rs2154075260 | 3953 | E>V | No | Ensembl | |
| rs1319198451 | 3954 | D>N | No | gnomAD | |
| rs1060501165 | 3955 | N>D | No | TOPMed | |
| rs1060501165 | 3955 | N>H | No | TOPMed | |
| rs748565602 | 3956 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs748565602 | 3956 | N>H | No |
ExAC TOPMed gnomAD |
|
|
COSM4121499 COSM4121500 |
3956 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1279414151 | 3956 | N>S | No |
TOPMed gnomAD |
|
| rs886508550 | 3958 | E>E | No |
TOPMed gnomAD |
1 associated diseases with Q01484
[MIM: 600919]: Long QT syndrome 4 (LQT4)
A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature. . Note=The disease is caused by variants affecting the gene represented in this entry.
15 regional properties for Q01484
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Death domain | 3559 - 3653 | IPR000488 |
| domain | ZU5 domain | 966 - 1156 | IPR000906-1 |
| domain | ZU5 domain | 1158 - 1304 | IPR000906-2 |
| repeat | Ankyrin repeat | 30 - 128 | IPR002110-1 |
| repeat | Ankyrin repeat | 129 - 161 | IPR002110-2 |
| repeat | Ankyrin repeat | 162 - 190 | IPR002110-3 |
| repeat | Ankyrin repeat | 191 - 264 | IPR002110-4 |
| repeat | Ankyrin repeat | 259 - 330 | IPR002110-5 |
| repeat | Ankyrin repeat | 331 - 462 | IPR002110-6 |
| repeat | Ankyrin repeat | 463 - 561 | IPR002110-7 |
| repeat | Ankyrin repeat | 562 - 594 | IPR002110-8 |
| repeat | Ankyrin repeat | 595 - 693 | IPR002110-9 |
| repeat | Ankyrin repeat | 694 - 726 | IPR002110-10 |
| repeat | Ankyrin repeat | 727 - 792 | IPR002110-11 |
| domain | Ankyrin, UPA domain | 1324 - 1453 | IPR040745 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24123 | ANKYRIN REPEAT-CONTAINING |
| PANTHER Subfamily | PTHR24123:SF49 | ANKYRIN REPEAT AND DEATH DOMAIN-CONTAINING 1B |
| PANTHER Protein Class | scaffold/adaptor protein | |
| PANTHER Pathway Category | No pathway information available | |
18 GO annotations of cellular component
| Name | Definition |
|---|---|
| A band | The dark-staining region of a sarcomere, in which myosin thick filaments are present; the center is traversed by the paler H zone, which in turn contains the M line. |
| 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. |
| costamere | Regular periodic sub membranous arrays of vinculin in skeletal and cardiac muscle cells, these arrays link Z-discs to the sarcolemma and are associated with links to extracellular matrix. |
| 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. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| intercalated disc | A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| M band | The midline of aligned thick filaments in a sarcomere; location of specific proteins that link thick filaments. Depending on muscle type the M band consists of different numbers of M lines. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic membrane | A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
| recycling endosome | An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane. |
| sarcolemma | The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
| T-tubule | Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATPase binding | Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
| cytoskeletal anchor activity | The binding activity of a protein that brings together a cytoskeletal protein (either a microtubule or actin filament, spindle pole body, or protein directly bound to them) and one or more other molecules, permitting them to function in a coordinated way. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| phosphorylation-dependent protein binding | Binding to a protein upon phosphorylation of the target protein. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein-macromolecule adaptor activity | The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid. |
| spectrin binding | Binding to spectrin, a protein that is the major constituent of the erythrocyte cytoskeletal network. It associates with band 4.1 (see band protein) and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane. It is composed of nonhomologous chains, alpha and beta, which aggregate side-to-side in an antiparallel fashion to form dimers, tetramers, and higher polymers. |
| structural constituent of cytoskeleton | The action of a molecule that contributes to the structural integrity of a cytoskeletal structure. |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
41 GO annotations of biological process
| Name | Definition |
|---|---|
| atrial cardiac muscle cell action potential | An action potential that occurs in an atrial cardiac muscle cell. |
| atrial cardiac muscle cell to AV node cell communication | The process that mediates interactions between an atrial cardiomyocyte and its surroundings that contributes to the process of the atrial cardiomyocyte communicating with an AV node cell in cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. |
| atrial septum development | The progression of the atrial septum over time, from its initial formation to the mature structure. |
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a part of the plasma membrane to form a new membrane-bounded vesicle. |
| intracellular calcium ion homeostasis | A homeostatic process involved in the maintenance of a steady state level of calcium ions within a cell. |
| membrane depolarization during SA node cell action potential | The process in which SA node cardiac muscle cell membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
| paranodal junction assembly | Formation of the junction between an axon and the glial cell that forms the myelin sheath. Paranodal junctions form at each paranode, i.e. at the ends of the unmyelinated nodes of Ranvier. |
| positive regulation of calcium ion transmembrane transporter activity | Any process that activates or increases the frequency, rate or extent of calcium ion transmembrane transporter activity. |
| positive regulation of calcium ion transport | Any process that activates or increases the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| positive regulation of cation channel activity | Any process that activates or increases the frequency, rate or extent of cation channel activity. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of potassium ion transmembrane transporter activity | Any process that activates or increases the frequency, rate or extent of potassium ion transmembrane transporter activity. |
| positive regulation of potassium ion transport | Any process that activates or increases the frequency, rate or extent of the directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
| protein localization to cell surface | A process in which a protein is transported to, or maintained in, a location within the external part of the cell wall and/or plasma membrane. |
| protein localization to endoplasmic reticulum | A process in which a protein is transported to, or maintained in, a location within the endoplasmic reticulum. |
| protein localization to M-band | Any process in which a protein is transported to, and/or maintained in, the M band. The M band is the midline of aligned thick filaments in a sarcomere. |
| protein localization to organelle | A process in which a protein is transported to, or maintained in, a location within an organelle. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| protein localization to T-tubule | A process in which a protein is transported to, or maintained in, the T-tubule. The T-tubule is an invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of atrial cardiac muscle cell action potential | Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in an atrial 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. |
| regulation of calcium ion transmembrane transporter activity | Any process that modulates the frequency, rate or extent of calcium ion transmembrane transporter activity. |
| regulation of calcium ion transport | Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of cardiac muscle cell contraction | Any process that modulates the frequency, rate or extent of cardiac muscle cell contraction. |
| regulation of cardiac muscle contraction | Any process that modulates the frequency, rate or extent of cardiac muscle contraction. |
| regulation of cardiac muscle contraction by calcium ion signaling | Any process that modulates the frequency, rate or extent of cardiac muscle contraction by changing the calcium ion signals that trigger contraction. |
| regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion | Any process that modulates the frequency, rate or extent of cardiac muscle contraction via the regulation of the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol. The sarcoplasmic reticulum is the endoplasmic reticulum of striated muscle, specialised for the sequestration of calcium ions that are released upon receipt of a signal relayed by the T tubules from the neuromuscular junction. |
| regulation of heart rate | Any process that modulates the frequency or rate of heart contraction. |
| regulation of heart rate by cardiac conduction | A cardiac conduction process that modulates the frequency or rate of heart contraction. |
| regulation of protein stability | Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation. |
| regulation of release of sequestered calcium ion into cytosol | Any process that modulates the frequency, rate or extent of the release into the cytosolic compartment of calcium ions sequestered in the endoplasmic reticulum or mitochondria. |
| regulation of SA node cell action potential | Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in an SA node cardiac myocyte. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. |
| regulation of ventricular cardiac muscle cell membrane repolarization | Any process that modulates the establishment or extent of a membrane potential in the polarizing direction towards the resting potential in a ventricular cardiomyocyte. |
| response to methylmercury | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a methylmercury stimulus. |
| SA node cell action potential | An action potential that occurs in a sinoatrial node cardiac muscle cell. |
| SA node cell to atrial cardiac muscle cell communication | The process that mediates interactions between an SA node cardiomyocyte and its surroundings that contributes to the process of the SA node cardiomyocyte communicating with an atrial cardiomyocyte in cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. |
| sarcoplasmic reticulum calcium ion transport | The directed movement of calcium ions (Ca2+) into, out of or within the sarcoplasmic reticulum. |
| T-tubule organization | A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of the T-tubule. A T-tubule is an invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. |
| ventricular cardiac muscle cell action potential | An action potential that occurs in a ventricular cardiac muscle cell. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| F1N6G5 | HACE1 | E3 ubiquitin-protein ligase HACE1 | Bos taurus (Bovine) | SS |
| E1C656 | HACE1 | E3 ubiquitin-protein ligase HACE1 | Gallus gallus (Chicken) | SS |
| Q8IYU2 | HACE1 | E3 ubiquitin-protein ligase HACE1 | Homo sapiens (Human) | EV |
| P16157 | ANK1 | Ankyrin-1 | Homo sapiens (Human) | EV |
| Q12955 | ANK3 | Ankyrin-3 | Homo sapiens (Human) | SS |
| Q3U0D9 | Hace1 | E3 ubiquitin-protein ligase HACE1 | Mus musculus (Mouse) | SS |
| Q02357 | Ank1 | Ankyrin-1 | Mus musculus (Mouse) | SS |
| Q8C8R3 | Ank2 | Ankyrin-2 | Mus musculus (Mouse) | SS |
| D3ZBM7 | Hace1 | E3 ubiquitin-protein ligase HACE1 | Rattus norvegicus (Rat) | SS |
| O70511 | Ank3 | Ankyrin-3 | Rattus norvegicus (Rat) | EV |
| Q28BK1 | hace1 | E3 ubiquitin-protein ligase HACE1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| F8W2M1 | hace1 | E3 ubiquitin-protein ligase HACE1 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMNEDAAQKS | DSGEKFNGSS | QRRKRPKKSD | SNASFLRAAR | AGNLDKVVEY | LKGGIDINTC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NQNGLNALHL | AAKEGHVGLV | QELLGRGSSV | DSATKKGNTA | LHIASLAGQA | EVVKVLVKEG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ANINAQSQNG | FTPLYMAAQE | NHIDVVKYLL | ENGANQSTAT | EDGFTPLAVA | LQQGHNQAVA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ILLENDTKGK | VRLPALHIAA | RKDDTKSAAL | LLQNDHNADV | QSKMMVNRTT | ESGFTPLHIA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AHYGNVNVAT | LLLNRGAAVD | FTARNGITPL | HVASKRGNTN | MVKLLLDRGG | QIDAKTRDGL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TPLHCAARSG | HDQVVELLLE | RGAPLLARTK | NGLSPLHMAA | QGDHVECVKH | LLQHKAPVDD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VTLDYLTALH | VAAHCGHYRV | TKLLLDKRAN | PNARALNGFT | PLHIACKKNR | IKVMELLVKY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GASIQAITES | GLTPIHVAAF | MGHLNIVLLL | LQNGASPDVT | NIRGETALHM | AARAGQVEVV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RCLLRNGALV | DARAREEQTP | LHIASRLGKT | EIVQLLLQHM | AHPDAATTNG | YTPLHISARE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GQVDVASVLL | EAGAAHSLAT | KKGFTPLHVA | AKYGSLDVAK | LLLQRRAAAD | SAGKNGLTPL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HVAAHYDNQK | VALLLLEKGA | SPHATAKNGY | TPLHIAAKKN | QMQIASTLLN | YGAETNIVTK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QGVTPLHLAS | QEGHTDMVTL | LLDKGANIHM | STKSGLTSLH | LAAQEDKVNV | ADILTKHGAD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QDAHTKLGYT | PLIVACHYGN | VKMVNFLLKQ | GANVNAKTKN | GYTPLHQAAQ | QGHTHIINVL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LQHGAKPNAT | TANGNTALAI | AKRLGYISVV | DTLKVVTEEV | TTTTTTITEK | HKLNVPETMT |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EVLDVSDEEG | DDTMTGDGGE | YLRPEDLKEL | GDDSLPSSQF | LDGMNYLRYS | LEGGRSDSLR |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SFSSDRSHTL | SHASYLRDSA | VMDDSVVIPS | HQVSTLAKEA | ERNSYRLSWG | TENLDNVALS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SSPIHSGFLV | SFMVDARGGA | MRGCRHNGLR | IIIPPRKCTA | PTRVTCRLVK | RHRLATMPPM |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| VEGEGLASRL | IEVGPSGAQF | LGKLHLPTAP | PPLNEGESLV | SRILQLGPPG | TKFLGPVIVE |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| IPHFAALRGK | ERELVVLRSE | NGDSWKEHFC | DYTEDELNEI | LNGMDEVLDS | PEDLEKKRIC |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| RIITRDFPQY | FAVVSRIKQD | SNLIGPEGGV | LSSTVVPQVQ | AVFPEGALTK | RIRVGLQAQP |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| MHSELVKKIL | GNKATFSPIV | TLEPRRRKFH | KPITMTIPVP | KASSDVMLNG | FGGDAPTLRL |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| LCSITGGTTP | AQWEDITGTT | PLTFVNECVS | FTTNVSARFW | LIDCRQIQES | VTFASQVYRE |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| IICVPYMAKF | VVFAKSHDPI | EARLRCFCMT | DDKVDKTLEQ | QENFAEVARS | RDVEVLEGKP |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| IYVDCFGNLV | PLTKSGQHHI | FSFFAFKENR | LPLFVKVRDT | TQEPCGRLSF | MKEPKSTRGL |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| VHQAICNLNI | TLPIYTKESE | SDQEQEEEID | MTSEKNDETE | STETSVLKSH | LVNEVPVLAS |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| PDLLSEVSEM | KQDLIKMTAI | LTTDVSDKAG | SIKVKELVKA | AEEEPGEPFE | IVERVKEDLE |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| KVNEILRSGT | CTRDESSVQS | SRSERGLVEE | EWVIVSDEEI | EEARQKAPLE | ITEYPCVEVR |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| IDKEIKGKVE | KDSTGLVNYL | TDDLNTCVPL | PKEQLQTVQD | KAGKKCEALA | VGRSSEKEGK |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| DIPPDETQST | QKQHKPSLGI | KKPVRRKLKE | KQKQKEEGLQ | ASAEKAELKK | GSSEESLGED |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| PGLAPEPLPT | VKATSPLIEE | TPIGSIKDKV | KALQKRVEDE | QKGRSKLPIR | VKGKEDVPKK |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| TTHRPHPAAS | PSLKSERHAP | GSPSPKTERH | STLSSSAKTE | RHPPVSPSSK | TEKHSPVSPS |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| AKTERHSPAS | SSSKTEKHSP | VSPSTKTERH | SPVSSTKTER | HPPVSPSGKT | DKRPPVSPSG |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| RTEKHPPVSP | GRTEKRLPVS | PSGRTDKHQP | VSTAGKTEKH | LPVSPSGKTE | KQPPVSPTSK |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| TERIEETMSV | RELMKAFQSG | QDPSKHKTGL | FEHKSAKQKQ | PQEKGKVRVE | KEKGPILTQR |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| EAQKTENQTI | KRGQRLPVTG | TAESKRGVRV | SSIGVKKEDA | AGGKEKVLSH | KIPEPVQSVP |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| EEESHRESEV | PKEKMADEQG | DMDLQISPDR | KTSTDFSEVI | KQELEDNDKY | QQFRLSEETE |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| KAQLHLDQVL | TSPFNTTFPL | DYMKDEFLPA | LSLQSGALDG | SSESLKNEGV | AGSPCGSLME |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| GTPQISSEES | YKHEGLAETP | ETSPESLSFS | PKKSEEQTGE | TKESTKTETT | TEIRSEKEHP |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| TTKDITGGSE | ERGATVTEDS | ETSTESFQKE | ATLGSPKDTS | PKRQDDCTGS | CSVALAKETP |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| TGLTEEAACD | EGQRTFGSSA | HKTQTDSEVQ | ESTATSDETK | ALPLPEASVK | TDTGTESKPQ |
| 2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
| GVIRSPQGLE | LALPSRDSEV | LSAVADDSLA | VSHKDSLEAS | PVLEDNSSHK | TPDSLEPSPL |
| 2470 | 2480 | 2490 | 2500 | 2510 | 2520 |
| KESPCRDSLE | SSPVEPKMKA | GIFPSHFPLP | AAVAKTELLT | EVASVRSRLL | RDPDGSAEDD |
| 2530 | 2540 | 2550 | 2560 | 2570 | 2580 |
| SLEQTSLMES | SGKSPLSPDT | PSSEEVSYEV | TPKTTDVSTP | KPAVIHECAE | EDDSENGEKK |
| 2590 | 2600 | 2610 | 2620 | 2630 | 2640 |
| RFTPEEEMFK | MVTKIKMFDE | LEQEAKQKRD | YKKEPKQEES | SSSSDPDADC | SVDVDEPKHT |
| 2650 | 2660 | 2670 | 2680 | 2690 | 2700 |
| GSGEDESGVP | VLVTSESRKV | SSSSESEPEL | AQLKKGADSG | LLPEPVIRVQ | PPSPLPSSMD |
| 2710 | 2720 | 2730 | 2740 | 2750 | 2760 |
| SNSSPEEVQF | QPVVSKQYTF | KMNEDTQEEP | GKSEEEKDSE | SHLAEDRHAV | STEAEDRSYD |
| 2770 | 2780 | 2790 | 2800 | 2810 | 2820 |
| KLNRDTDQPK | ICDGHGCEAM | SPSSSAAPVS | SGLQSPTGDD | VDEQPVIYKE | SLALQGTHEK |
| 2830 | 2840 | 2850 | 2860 | 2870 | 2880 |
| DTEGEELDVS | RAESPQADCP | SESFSSSSSL | PHCLVSEGKE | LDEDISATSS | IQKTEVTKTD |
| 2890 | 2900 | 2910 | 2920 | 2930 | 2940 |
| ETFENLPKDC | PSQDSSITTQ | TDRFSMDVPV | SDLAENDEIY | DPQITSPYEN | VPSQSFFSSE |
| 2950 | 2960 | 2970 | 2980 | 2990 | 3000 |
| ESKTQTDANH | TTSFHSSEVY | SVTITSPVED | VVVASSSSGT | VLSKESNFEG | QDIKMESQQE |
| 3010 | 3020 | 3030 | 3040 | 3050 | 3060 |
| STLWEMQSDS | VSSSFEPTMS | ATTTVVGEQI | SKVIITKTDV | DSDSWSEIRE | DDEAFEARVK |
| 3070 | 3080 | 3090 | 3100 | 3110 | 3120 |
| EEEQKIFGLM | VDRQSQGTTP | DTTPARTPTE | EGTPTSEQNP | FLFQEGKLFE | MTRSGAIDMT |
| 3130 | 3140 | 3150 | 3160 | 3170 | 3180 |
| KRSYADESFH | FFQIGQESRE | ETLSEDVKEG | ATGADPLPLE | TSAESLALSE | SKETVDDEAD |
| 3190 | 3200 | 3210 | 3220 | 3230 | 3240 |
| LLPDDVSEEV | EEIPASDAQL | NSQMGISAST | ETPTKEAVSV | GTKDLPTVQT | GDIPPLSGVK |
| 3250 | 3260 | 3270 | 3280 | 3290 | 3300 |
| QISCPDSSEP | AVQVQLDFST | LTRSVYSDRG | DDSPDSSPEE | QKSVIEIPTA | PMENVPFTES |
| 3310 | 3320 | 3330 | 3340 | 3350 | 3360 |
| KSKIPVRTMP | TSTPAPPSAE | YESSVSEDFL | SSVDEENKAD | EAKPKSKLPV | KVPLQRVEQQ |
| 3370 | 3380 | 3390 | 3400 | 3410 | 3420 |
| LSDLDTSVQK | TVAPQGQDMA | SIAPDNRSKS | ESDASSLDSK | TKCPVKTRSY | TETETESRER |
| 3430 | 3440 | 3450 | 3460 | 3470 | 3480 |
| AEELELESEE | GATRPKILTS | RLPVKSRSTT | SSCRGGTSPT | KESKEHFFDL | YRNSIEFFEE |
| 3490 | 3500 | 3510 | 3520 | 3530 | 3540 |
| ISDEASKLVD | RLTQSEREQE | IVSDDESSSA | LEVSVIENLP | PVETEHSVPE | DIFDTRPIWD |
| 3550 | 3560 | 3570 | 3580 | 3590 | 3600 |
| ESIETLIERI | PDENGHDHAE | DPQDEQERIE | ERLAYIADHL | GFSWTELARE | LDFTEEQIHQ |
| 3610 | 3620 | 3630 | 3640 | 3650 | 3660 |
| IRIENPNSLQ | DQSHALLKYW | LERDGKHATD | TNLVECLTKI | NRMDIVHLME | TNTEPLQERI |
| 3670 | 3680 | 3690 | 3700 | 3710 | 3720 |
| SHSYAEIEQT | ITLDHSEGFS | VLQEELCTAQ | HKQKEEQAVS | KESETCDHPP | IVSEEDISVG |
| 3730 | 3740 | 3750 | 3760 | 3770 | 3780 |
| YSTFQDGVPK | TEGDSSATAL | FPQTHKEQVQ | QDFSGKMQDL | PEESSLEYQQ | EYFVTTPGTE |
| 3790 | 3800 | 3810 | 3820 | 3830 | 3840 |
| TSETQKAMIV | PSSPSKTPEE | VSTPAEEEKL | YLQTPTSSER | GGSPIIQEPE | EPSEHREESS |
| 3850 | 3860 | 3870 | 3880 | 3890 | 3900 |
| PRKTSLVIVE | SADNQPETCE | RLDEDAAFEK | GDDMPEIPPE | TVTEEEYIDE | HGHTVVKKVT |
| 3910 | 3920 | 3930 | 3940 | 3950 | |
| RKIIRRYVSS | EGTEKEEIMV | QGMPQEPVNI | EEGDGYSKVI | KRVVLKSDTE | QSEDNNE |