Q9P212
Gene name |
PLCE1 (KIAA1516, PLCE, PPLC) |
Protein name |
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 |
Names |
EC 3.1.4.11 , Pancreas-enriched phospholipase C , Phosphoinositide phospholipase C-epsilon-1 , Phospholipase C-epsilon-1 , PLC-epsilon-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51196 |
EC number |
3.1.4.11: Phosphoric diester hydrolases |
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
1392-1541 (PI-PLC X domain);1728-1846 (PI-PLC Y domain) |
Relief mechanism |
Ligand binding, Partner binding |
Assay |
|
Target domain |
1846-1871 (A cleft between TIM barrel and C2 domain) |
Relief mechanism |
Ligand binding, Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Muralidharan K et al. (2021) "Structure and regulation of phospholipase Cβ and ε at the membrane", Chemistry and physics of lipids, 235, 105050
- Rugema NY et al. (2020) "Structure of phospholipase Cε reveals an integrated RA1 domain and previously unidentified regulatory elements", Communications biology, 3, 445
Autoinhibited structure

Activated structure

4 structures for Q9P212
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2BYE | NMR | - | A | 2006-2114 | PDB |
2BYF | NMR | - | A | 2131-2246 | PDB |
2C5L | X-ray | 190 A | C/D | 2131-2246 | PDB |
AF-Q9P212-F1 | Predicted | AlphaFoldDB |
2328 variants for Q9P212
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA10636938 RCV000299500 rs61749238 |
76 | A>E | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV001105466 RCV000908925 RCV002294185 RCV000246633 CA5612095 rs61749238 |
76 | A>V | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs761055810 RCV000354406 RCV002520645 CA5612107 |
99 | A>V | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000260001 rs886047493 CA10636550 |
108 | N>S | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
rs886047495 CA10629509 RCV000320844 |
192 | E>D | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV002274138 RCV001106613 rs776583769 |
212 | D>N | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
RCV002056158 CA5612159 rs373215088 RCV000344043 |
222 | G>R | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
rs774497694 RCV001106614 |
225 | K>E | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
RCV001108774 rs1304398531 |
238 | M>T | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
RCV000295057 CA10629510 rs886047497 |
242 | K>Q | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
rs374137235 RCV001330719 |
245 | D>N | Nephrotic syndrome, type 3 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
RCV001108775 rs1193922904 |
250 | Q>K | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
RCV001195710 rs781693565 |
252 | Q>H | Glomerulonephritis [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000398446 CA10632911 rs886047498 |
317 | S>N | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
CA115501 RCV000002443 rs267606954 |
321 | R>* | Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs564879389 RCV001108777 |
361 | W>R | Nephrotic syndrome, type 3 [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP |
rs372621219 RCV000337057 CA5612224 |
364 | I>V | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
rs876657369 CA10575469 RCV000002435 |
383 | S>missing | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
rs2134504108 RCV002250248 |
383 | S>* | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
RCV001103624 rs761213168 |
394 | R>C | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
rs2061573367 RCV001103625 |
398 | A>G | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
RCV001103626 rs201401363 RCV000712688 |
401 | Y>H | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs752029771 RCV000786899 |
408 | R>I | Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
rs145451189 RCV000896139 RCV001103627 |
410 | E>K | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
CA5612343 rs199689540 RCV003556317 RCV000296944 |
438 | V>A | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
rs192219615 RCV001105569 RCV000517387 RCV002525063 CA5612364 |
467 | T>I | Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
VAR_031843 RCV000250368 RCV000710172 RCV002294181 CA5612366 RCV000302907 rs17508082 |
469 | S>T | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA10632915 RCV000357669 rs886047499 |
474 | T>I | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
RCV001967313 RCV003339835 rs150173742 |
491 | T>N | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA115490 RCV000002436 RCV002508771 rs121912601 |
493 | R>* | Variant assessed as Somatic; HIGH impact. Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [NCI-TCGA, Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
RCV000514699 RCV000327511 rs61751493 CA5612404 |
499 | R>C | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs757336023 COSM1970335 RCV001105570 |
499 | R>H | Nephrotic syndrome, type 3 pancreas [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
RCV002284196 rs61751494 CA5612418 RCV000948377 RCV000364133 |
523 | I>V | Nephrotic syndrome, type 3 Polycystic kidney disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV001106712 rs369152754 |
548 | R>C | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV000242119 RCV000712689 VAR_031844 rs17417407 CA5612431 RCV000616298 RCV002294182 |
548 | R>L | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV001330717 rs377400616 |
550 | V>F | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP |
RCV001849870 rs2136320656 |
570 | S>missing | Nephrotic syndrome [ClinVar] | Yes |
ClinVar dbSNP |
RCV000246926 rs141639885 RCV002225567 RCV002294183 RCV000388334 CA5612453 |
577 | A>T | Kidney disorder Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV001106713 rs554159388 RCV002556091 |
603 | E>K | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
rs61886330 RCV000516190 RCV000891403 CA5612512 RCV001108876 |
643 | A>S | Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV001106714 rs61886330 RCV001356680 |
643 | A>T | Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV001108877 RCV001288671 rs201422605 |
678 | M>V | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV001108879 rs200013667 |
722 | G>S | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
CA5612615 RCV000375481 rs761776701 |
775 | R>W | Nephrotic syndrome, type 3 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
RCV002491905 RCV001931032 rs201965980 |
781 | L>P | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
RCV000336531 CA5612648 rs78217273 RCV000884580 |
810 | I>V | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs2137512478 RCV001849871 |
859 | Q>missing | Nephrotic syndrome [ClinVar] | Yes |
ClinVar dbSNP |
CA5612694 rs372756642 RCV000287364 |
879 | R>C | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV000959882 RCV000734018 CA5612706 rs61751497 RCV000342370 |
910 | V>I | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000390276 rs758463243 CA5612708 |
924 | G>S | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
rs773857638 RCV001103722 |
943 | A>S | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
rs757606247 RCV001103723 |
948 | H>Y | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
rs780213480 RCV001105669 |
955 | T>S | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
RCV003420208 rs762245091 RCV000681907 |
987 | H>R | PLCE1-related condition [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
rs61751498 RCV002294420 RCV001105670 RCV002284208 RCV000948378 |
1000 | S>N | Nephrotic syndrome, type 3 Polycystic kidney disease [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs895782232 RCV000985026 |
1020 | Q>* | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
VAR_087600 | 1020 | Q>del | NPHS3 [UniProt] | Yes | UniProt |
RCV000790391 rs1589413498 |
1022 | W>* | Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] | Yes |
ClinVar Ensembl dbSNP |
rs2050907070 RCV001105671 |
1033 | E>A | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
rs200419008 CA5612785 RCV003546507 RCV000366664 |
1045 | A>S | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs773093424 RCV001105672 |
1062 | G>R | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
rs764019766 RCV001105673 |
1072 | N>S | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
RCV001571057 CA5612837 rs61732523 RCV000275815 |
1094 | G>A | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs61732523 RCV002556092 RCV001106795 RCV002284211 |
1094 | G>V | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV002556093 rs775231257 RCV003293881 RCV001106796 |
1112 | H>R | Nephrotic syndrome, type 3 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
rs918508213 RCV002244205 |
1113 | K>missing | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar dbSNP |
RCV000002437 rs121912602 CA115492 |
1116 | R>* | Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs2132855762 RCV001849873 |
1126 | I>* | Nephrotic syndrome [ClinVar] | Yes |
ClinVar dbSNP |
rs778868001 RCV001106797 |
1150 | H>R | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
RCV001756696 rs540730568 RCV002477924 |
1164 | T>M | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
RCV002485793 RCV002532936 rs180753337 RCV000712693 |
1173 | S>F | Nephrotic syndrome, type 3 Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
COSM1262370 rs747635422 RCV001106798 |
1195 | R>W | Nephrotic syndrome, type 3 oesophagus stomach [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
RCV002284221 RCV002294473 RCV001580291 rs199781223 RCV002072296 |
1199 | G>S | Kidney disorder [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs1589433172 RCV000988437 |
1233 | L>P | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
RCV001107433 rs975453016 |
1240 | Y>C | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
CA115503 RCV002514120 rs267606955 RCV000002444 |
1246 | R>* | Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV002225052 rs754487813 |
1278 | V>L | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
CA10575470 rs876657370 RCV000002438 |
1283 | L>missing | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
rs1345048932 RCV001107436 |
1327 | L>R | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
rs2051493957 RCV001103812 |
1376 | D>V | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
rs886047502 CA10632918 RCV000372815 |
1389 | E>K | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
rs2051495579 RCV001328253 |
1401 | Y>missing | Nephrotic syndrome [ClinVar] | Yes |
ClinVar dbSNP |
rs2051499855 RCV001330718 |
1423 | E>D | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
RCV000380300 RCV000323390 rs766196444 CA5613111 CA5613112 |
1447 | M>I | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV001535848 rs2133104138 |
1455 | T>missing | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar dbSNP |
RCV000283512 rs199793703 CA5613137 |
1471 | R>H | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
rs886047503 CA10629515 COSM1349953 COSM5136227 COSM1349955 RCV000340765 COSM1349954 |
1483 | I>V | Nephrotic syndrome, type 3 Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
COSM1585217 VAR_029883 RCV000002441 COSM921664 COSM1585216 rs121912605 CA115498 |
1484 | S>L | Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 Variant assessed as Somatic; MODERATE impact. endometrium NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis [Ensembl, ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
rs2051691492 RCV002244206 |
1493 | Q>* | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
rs548655036 RCV001885363 RCV001823445 |
1495 | R>* | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
CA5613212 RCV001725149 VAR_031845 RCV000254331 rs2274224 RCV000605019 RCV002294188 |
1575 | R>P | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000594173 CA5613213 rs2274224 RCV001105758 |
1575 | R>Q | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000291719 CA5613220 rs61732525 |
1578 | N>I | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs61732525 RCV001105759 RCV000947271 RCV002294419 |
1578 | N>S | Kidney disorder Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA5613236 rs765634224 RCV000344250 |
1604 | D>Y | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000002439 CA115494 rs121912603 |
1616 | Q>* | Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV001849875 rs747229979 |
1630 | A>missing | Nephrotic syndrome [ClinVar] | Yes |
ClinVar dbSNP |
rs886047504 CA10632924 RCV000400675 |
1642 | D>N | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV000785963 rs1589475328 RCV002508255 RCV001849443 RCV001849442 |
1660 | Q>missing | Nephrotic syndrome, type 3 Nephrotic syndrome [ClinVar] | Yes |
ClinVar dbSNP |
RCV000401505 CA10632925 rs886047505 RCV003480587 |
1700 | I>T | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
RCV000297333 CA5613336 rs781690094 |
1771 | R>S | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
RCV000616997 rs3765524 CA5613337 RCV000245651 RCV001610692 VAR_031846 RCV002294190 |
1777 | T>I | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs2133537931 RCV002250848 |
1788 | Y>* | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
rs2053139766 RCV002244207 |
1837 | G>D | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
RCV002221406 rs2133612518 |
1840 | L>V | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
rs2133612592 RCV001849876 |
1841 | K>E | Nephrotic syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
rs776276690 RCV000256376 CA5613382 |
1850 | C>Y | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs1589509476 RCV000991397 |
1853 | Y>* | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
CA115496 RCV000002440 rs121912604 |
1854 | Q>* | Variant assessed as Somatic; HIGH impact. Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [NCI-TCGA, Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
RCV002484403 RCV002555357 RCV001927691 rs762506926 |
1871 | Y>C | Nephrotic syndrome, type 3 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
CA5613405 rs58539480 RCV000968188 RCV002294191 RCV000253540 RCV000323870 |
1890 | P>L | Kidney disorder Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
VAR_031847 RCV000250112 RCV000605587 RCV002294192 rs2274223 CA5613420 RCV001683082 |
1927 | H>R | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA5613423 RCV000712695 rs202171627 RCV000265307 |
1928 | V>I | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA5613430 RCV002520650 rs763348713 RCV000327449 |
1947 | A>V | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
RCV001849877 rs2133673643 |
1984 | N>missing | Nephrotic syndrome [ClinVar] | Yes |
ClinVar dbSNP |
rs2053582229 RCV001103929 |
2052 | I>N | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
RCV001103930 rs760229823 |
2104 | M>L | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
CA5613571 rs528942664 RCV000351419 |
2122 | V>I | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
RCV003768422 rs773902333 RCV000778294 |
2126 | K>missing | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar dbSNP |
rs192586920 RCV001104206 RCV003727857 |
2149 | P>L | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
RCV000002442 CA115499 COSM3738795 COSM3738796 rs267606953 COSM3738797 |
2150 | R>* | Variant assessed as Somatic; HIGH impact. Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 liver [NCI-TCGA, Ensembl, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
RCV000490198 VAR_087601 CA5613605 RCV001104207 rs111929795 |
2173 | K>R | Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs376129110 RCV001104208 |
2231 | F>L | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
rs180876175 RCV000984912 |
2253 | A>T | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
CA645372502 RCV000256386 rs886039892 RCV002518786 RCV002470831 |
2267 | R>Q | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
RCV001328219 rs375606039 |
2274 | Q>R | Nephrotic syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV002490887 CA5613674 rs771798085 RCV003565432 RCV000517610 |
2286 | E>missing | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
RCV002171780 RCV002500368 rs571727623 |
2288 | P>T | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
RCV001782650 rs1193230553 |
2301 | R>* | Nephrotic syndrome, type 3 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
rs773702940 | 2 | T>I | No | TOPMed | |
rs199886888 | 4 | E>K | No |
TOPMed gnomAD |
|
rs199886888 | 4 | E>Q | No |
TOPMed gnomAD |
|
rs2134488348 | 6 | M>I | No | Ensembl | |
rs2061547861 | 6 | M>V | No | TOPMed | |
rs1564634285 | 8 | A>T | No | Ensembl | |
rs755873612 | 10 | V>I | No |
ExAC TOPMed gnomAD |
|
rs900776425 | 11 | L>F | No |
TOPMed gnomAD |
|
rs575611837 | 13 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs770415486 | 13 | P>L | No |
ExAC TOPMed gnomAD |
|
rs575611837 | 13 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1264873184 | 15 | T>S | No | gnomAD | |
rs2061548251 | 16 | Q>E | No | TOPMed | |
rs2061548294 | 16 | Q>L | No | TOPMed | |
rs2061548294 | 16 | Q>R | No | TOPMed | |
rs2061548343 | 17 | R>T | No | TOPMed | |
rs866625982 | 18 | K>E | No | Ensembl | |
rs773920088 | 18 | K>N | No |
ExAC gnomAD |
|
COSM4404032 COSM4404033 |
20 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs745312368 | 21 | S>C | No |
ExAC gnomAD |
|
rs2061548459 | 21 | S>P | No | TOPMed | |
rs538129490 | 22 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs775247624 COSM4016780 COSM4016779 |
24 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs1175295307 | 25 | A>T | No |
TOPMed gnomAD |
|
rs1464445750 | 25 | A>V | No | TOPMed | |
rs996745960 | 27 | D>G | No | TOPMed | |
COSM3441746 rs577951879 COSM3441747 |
28 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD |
rs1424154839 | 29 | S>G | No | gnomAD | |
rs2061548891 | 30 | S>N | No |
TOPMed gnomAD |
|
rs2061548891 | 30 | S>T | No |
TOPMed gnomAD |
|
rs1172068516 | 32 | K>N | No |
TOPMed gnomAD |
|
rs1051971566 | 33 | V>D | No |
TOPMed gnomAD |
|
rs1474301044 | 34 | S>L | No | gnomAD | |
rs773919510 | 34 | S>P | No |
ExAC gnomAD |
|
rs1355346364 | 35 | D>H | No | gnomAD | |
rs1463688295 | 36 | I>V | No |
TOPMed gnomAD |
|
rs763517011 | 37 | N>S | No |
ExAC TOPMed gnomAD |
|
rs763517011 | 37 | N>T | No |
ExAC TOPMed gnomAD |
|
rs766736677 | 39 | S>* | No | ExAC | |
rs751680917 | 40 | K>* | No | ExAC | |
TCGA novel | 41 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2061549605 | 41 | A>V | No | gnomAD | |
rs1396274897 | 43 | T>A | No | gnomAD | |
rs1415773380 | 44 | V>F | No |
TOPMed gnomAD |
|
rs1415773380 | 44 | V>I | No |
TOPMed gnomAD |
|
rs1415773380 | 44 | V>L | No |
TOPMed gnomAD |
|
COSM1651225 COSM921642 |
45 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs754972798 | 46 | R>* | No |
ExAC TOPMed gnomAD |
|
rs754972798 | 46 | R>G | No |
ExAC TOPMed gnomAD |
|
COSM1585245 COSM921643 rs767766247 |
46 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs752895021 | 47 | S>R | No |
ExAC TOPMed gnomAD |
|
rs200054827 | 49 | E>D | No |
1000Genomes ExAC gnomAD |
|
TCGA novel | 49 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1308915483 | 50 | T>I | No | gnomAD | |
COSM1349897 COSM5163755 COSM1349898 |
51 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs372251905 | 52 | H>L | No |
ESP ExAC gnomAD |
|
rs372251905 | 52 | H>R | No |
ESP ExAC gnomAD |
|
rs2061550103 | 52 | H>Y | No | Ensembl | |
rs1483493650 | 53 | T>A | No |
TOPMed gnomAD |
|
rs1212739268 | 54 | I>V | No |
TOPMed gnomAD |
|
rs373593384 | 55 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
rs2134490508 | 56 | Q>R | No | Ensembl | |
rs761575973 | 58 | N>K | No |
ExAC TOPMed gnomAD |
|
rs2061550559 | 59 | K>* | No | Ensembl | |
COSM921644 COSM1585244 |
61 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2061550685 | 64 | P>S | No | TOPMed | |
rs771457628 | 65 | S>P | No |
ExAC TOPMed gnomAD |
|
rs2061550828 | 67 | S>G | No | gnomAD | |
rs2061550877 | 67 | S>N | No |
TOPMed gnomAD |
|
rs746652821 | 68 | N>H | No |
ExAC gnomAD |
|
rs983406494 | 68 | N>S | No |
TOPMed gnomAD |
|
rs746652821 | 68 | N>Y | No |
ExAC gnomAD |
|
rs2061551075 | 71 | K>N | No | Ensembl | |
rs1374204447 | 72 | I>S | No | gnomAD | |
rs2061551112 | 72 | I>V | No | gnomAD | |
rs2061551225 | 74 | S>L | No | Ensembl | |
rs2134491266 | 75 | I>M | No | Ensembl | |
rs367762397 | 75 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
rs61749238 | 76 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368296510 | 77 | R>K | No |
ESP ExAC TOPMed gnomAD |
|
rs2061551507 | 78 | E>G | No | TOPMed | |
rs1456154904 | 81 | V>G | No |
TOPMed gnomAD |
|
rs372609071 | 82 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
rs2061551713 | 82 | S>R | No | TOPMed | |
rs375835173 | 83 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
rs1236231628 | 83 | D>Y | No | gnomAD | |
rs267602624 | 84 | E>D | No | gnomAD | |
rs1589883073 | 84 | E>K | No | Ensembl | |
rs1485318519 | 86 | S>N | No | gnomAD | |
rs2061552015 | 86 | S>R | No |
TOPMed gnomAD |
|
rs756966446 | 88 | E>G | No |
ExAC TOPMed gnomAD |
|
COSM5543309 COSM5543310 COSM5543311 |
88 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 89 | K>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs750829654 | 90 | C>F | No |
ExAC TOPMed gnomAD |
|
rs750829654 | 90 | C>Y | No |
ExAC TOPMed gnomAD |
|
rs2134492124 | 91 | W>C | No | Ensembl | |
rs2134492096 | 91 | W>R | No | Ensembl | |
rs1486921056 | 92 | E>K | No | gnomAD | |
TCGA novel | 93 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs750310703 | 94 | I>S | No |
ExAC gnomAD |
|
rs779712636 | 95 | M>L | No |
ExAC TOPMed gnomAD |
|
rs779712636 | 95 | M>V | No |
ExAC TOPMed gnomAD |
|
rs1564634630 | 97 | D>H | No | gnomAD | |
COSM3441750 COSM3441751 |
97 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs780949804 | 100 | K>Q | No |
ExAC gnomAD |
|
rs1024101614 | 101 | N>K | No |
TOPMed gnomAD |
|
COSM3441752 COSM3441753 |
102 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1449382962 | 103 | N>T | No |
TOPMed gnomAD |
|
COSM921645 COSM1585243 |
108 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs771177637 | 109 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs771177637 | 109 | I>V | No |
ExAC gnomAD |
|
rs2061553228 | 110 | L>V | No | TOPMed | |
COSM5826851 COSM1349902 COSM1349901 |
111 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs774981225 | 111 | R>T | No |
ExAC gnomAD |
|
rs2061553336 | 113 | H>N | No | Ensembl | |
rs2061553393 | 114 | Q>H | No | Ensembl | |
rs759958187 | 115 | H>P | No |
ExAC TOPMed gnomAD |
|
rs759958187 | 115 | H>R | No |
ExAC TOPMed gnomAD |
|
COSM6067217 COSM6067218 COSM6067216 |
119 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1355131868 | 119 | Q>P | No |
TOPMed gnomAD |
|
TCGA novel | 120 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1240154880 | 121 | Q>K | No |
TOPMed gnomAD |
|
rs1442592804 | 123 | Y>* | No |
TOPMed gnomAD |
|
COSM5837484 COSM5837483 COSM5837485 |
124 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1224113478 | 125 | M>I | No | gnomAD | |
rs2061554049 | 125 | M>L | No | Ensembl | |
rs967633416 | 125 | M>T | No |
TOPMed gnomAD |
|
rs1286274921 | 126 | Y>H | No | gnomAD | |
rs1213773441 | 129 | V>I | No |
TOPMed gnomAD |
|
rs1213773441 | 129 | V>L | No |
TOPMed gnomAD |
|
COSM1317414 COSM1317413 |
130 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs764335423 | 130 | A>T | No |
ExAC gnomAD |
|
rs2061554485 | 131 | E>D | No |
TOPMed gnomAD |
|
TCGA novel | 133 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1195774926 | 133 | D>V | No | gnomAD | |
rs753979956 | 133 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs1251371175 | 134 | L>F | No | gnomAD | |
COSM3868092 COSM3868091 rs2061554785 |
141 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
COSM5371330 COSM5371331 COSM5371329 |
141 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1044573434 | 142 | S>P | No | Ensembl | |
rs1169144353 | 143 | P>L | No | TOPMed | |
TCGA novel | 143 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1564634768 | 144 | L>V | No | Ensembl | |
rs761721376 | 145 | E>G | No |
ExAC gnomAD |
|
rs906066688 | 145 | E>K | No |
TOPMed gnomAD |
|
rs977110384 | 146 | R>G | No |
TOPMed gnomAD |
|
rs758420946 | 147 | K>N | No |
ExAC TOPMed gnomAD |
|
RCV002224953 rs573360290 |
147 | K>R | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs182480150 | 148 | V>M | No |
1000Genomes ExAC gnomAD |
|
COSM3441754 COSM3441755 |
149 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs751143974 | 150 | P>L | No |
ExAC TOPMed gnomAD |
|
rs867577134 | 150 | P>S | No |
TOPMed gnomAD |
|
rs2061555825 COSM3441756 COSM3441757 |
151 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
rs886047494 | 153 | Q>H | No |
TOPMed gnomAD |
|
rs1442664929 | 153 | Q>P | No | gnomAD | |
COSM3441758 COSM3441759 rs1281031440 COSM5604514 |
155 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1283949487 | 156 | L>V | No |
TOPMed gnomAD |
|
rs754506421 | 157 | D>E | No |
ExAC gnomAD |
|
rs2061556622 | 157 | D>N | No | gnomAD | |
COSM3441760 COSM3441761 |
158 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1028185313 | 158 | R>S | No | Ensembl | |
rs1342740388 | 159 | P>L | No |
TOPMed gnomAD |
|
rs780946460 | 159 | P>S | No |
ExAC TOPMed gnomAD |
|
rs780946460 | 159 | P>T | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 161 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2061557028 | 161 | M>V | No |
TOPMed gnomAD |
|
rs1215621414 | 164 | S>C | No | gnomAD | |
rs1271524140 | 164 | S>N | No | gnomAD | |
rs1451187790 | 164 | S>R | No |
TOPMed gnomAD |
|
rs373678903 | 165 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
rs746187420 | 166 | L>S | No |
ExAC TOPMed gnomAD |
|
COSM5592567 COSM3441762 COSM3441763 |
167 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3441764 COSM3441765 COSM5371335 |
169 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1589883602 | 169 | Q>R | No | Ensembl | |
rs2061557538 | 170 | S>T | No | gnomAD | |
rs2134495095 | 171 | V>A | No | Ensembl | |
rs1468907560 | 171 | V>M | No |
TOPMed gnomAD |
|
rs531313054 | 173 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs775939596 | 173 | I>V | No |
ExAC TOPMed gnomAD |
|
rs768703688 | 175 | T>A | No |
ExAC gnomAD |
|
rs2061557938 | 175 | T>R | No | TOPMed | |
rs1440257014 | 176 | G>S | No |
TOPMed gnomAD |
|
rs1410133165 | 177 | R>G | No | gnomAD | |
rs771355101 | 179 | H>Q | No |
ExAC TOPMed gnomAD |
|
rs2061558202 | 180 | P>T | No | Ensembl | |
rs1018870505 | 181 | D>E | No |
TOPMed gnomAD |
|
rs761942331 | 181 | D>G | No |
ExAC TOPMed gnomAD |
|
rs1488040207 | 182 | S>N | No | TOPMed | |
rs2134495528 | 182 | S>R | No | Ensembl | |
rs765438751 | 182 | S>R | No |
ExAC gnomAD |
|
rs1589883724 | 183 | R>T | No | Ensembl | |
rs772902065 | 184 | R>G | No |
ExAC TOPMed gnomAD |
|
rs2061558488 | 184 | R>K | No |
TOPMed gnomAD |
|
rs1393379998 | 185 | A>P | No | gnomAD | |
COSM4715055 COSM4715056 COSM4715054 |
186 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 186 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1291472151 | 187 | F>Y | No | gnomAD | |
rs866228865 | 188 | H>N | No | Ensembl | |
rs1355943464 | 188 | H>R | No | gnomAD | |
rs866228865 | 188 | H>Y | No | Ensembl | |
rs2061558820 | 190 | H>L | No | Ensembl | |
rs762794649 | 190 | H>Y | No |
ExAC gnomAD |
|
COSM4552893 COSM4552894 |
192 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs377113732 | 193 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1434221808 | 193 | V>I | No |
TOPMed gnomAD |
|
rs2134496222 | 194 | D>G | No | Ensembl | |
rs1204808932 | 195 | R>G | No | gnomAD | |
rs751519901 | 195 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
COSM3397317 rs752185437 COSM3397316 |
197 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs1185188574 | 197 | M>L | No |
TOPMed gnomAD |
|
rs766931943 | 197 | M>T | No |
ExAC gnomAD |
|
rs1185188574 | 197 | M>V | No |
TOPMed gnomAD |
|
rs755737422 | 198 | S>L | No |
ExAC gnomAD |
|
rs977033893 | 199 | D>N | No | Ensembl | |
RCV000712696 rs777436865 |
200 | T>I | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746265623 | 201 | F>L | No |
ExAC gnomAD |
|
rs1313196238 | 202 | C>Y | No |
TOPMed gnomAD |
|
rs1328605372 | 204 | L>V | No |
TOPMed gnomAD |
|
rs758734605 | 205 | S>P | No |
ExAC gnomAD |
|
rs1228245583 | 211 | D>G | No | gnomAD | |
rs1339992165 | 211 | D>H | No | gnomAD | |
rs1228245583 | 211 | D>V | No | gnomAD | |
rs776583769 | 212 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1228165244 | 213 | C>Y | No | gnomAD | |
TCGA novel | 214 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs752701924 | 216 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs752701924 | 216 | C>Y | No |
ExAC TOPMed gnomAD |
|
rs1209405400 | 217 | V>L | No |
TOPMed gnomAD |
|
rs2061560822 | 220 | P>H | No | TOPMed | |
rs1034390108 | 220 | P>S | No |
TOPMed gnomAD |
|
rs1477441868 | 221 | G>R | No | TOPMed | |
rs1194626059 | 222 | G>D | No | gnomAD | |
rs373215088 | 222 | G>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1194626059 | 222 | G>V | No | gnomAD | |
COSM6130808 COSM6130809 COSM6130807 |
223 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2061561153 | 224 | E>V | No | Ensembl | |
rs1174053364 | 226 | Q>P | No | gnomAD | |
COSM3415369 COSM5825666 rs894468303 COSM3415370 |
227 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
rs1487629775 | 228 | K>* | No |
TOPMed gnomAD |
|
rs916881442 | 229 | N>H | No | Ensembl | |
rs2061561622 | 229 | N>S | No | TOPMed | |
rs376748611 | 230 | Y>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs376748611 COSM3441772 COSM3441771 |
230 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1589884080 | 230 | Y>H | No | Ensembl | |
rs767432281 | 232 | A>E | No |
ExAC gnomAD |
|
rs1171999183 | 232 | A>T | No | gnomAD | |
rs949698821 | 234 | T>I | No | TOPMed | |
rs949698821 | 234 | T>N | No | TOPMed | |
rs1324928667 | 235 | C>S | No | gnomAD | |
rs1256537854 | 237 | L>R | No | TOPMed | |
rs755612271 | 237 | L>V | No |
ExAC TOPMed gnomAD |
|
rs758824388 | 239 | E>D | No |
ExAC gnomAD |
|
TCGA novel | 239 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs753470093 | 239 | E>K | No |
ExAC gnomAD |
|
rs780397243 | 240 | L>M | No |
ExAC gnomAD |
|
rs777822074 | 241 | A>T | No |
ExAC TOPMed gnomAD |
|
rs371380798 | 243 | N>D | No | Ensembl | |
rs1351944452 | 243 | N>S | No | gnomAD | |
rs1206410558 | 244 | C>F | No | gnomAD | |
rs1206410558 | 244 | C>Y | No | gnomAD | |
rs2061563389 | 245 | D>G | No | Ensembl | |
rs1281464900 | 246 | N>Y | No | gnomAD | |
rs1295681966 | 248 | N>D | No | TOPMed | |
rs1464034304 | 249 | E>K | No |
TOPMed gnomAD |
|
rs2061563806 | 249 | E>V | No | Ensembl | |
rs1193922904 | 250 | Q>* | No | gnomAD | |
rs2061563948 | 250 | Q>R | No |
TOPMed gnomAD |
|
TCGA novel | 251 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1349904 COSM1349903 rs1589884285 COSM5100917 |
252 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs1292650860 | 252 | Q>P | No |
TOPMed gnomAD |
|
rs200257502 | 253 | C>R | No | Ensembl | |
rs2061564373 | 255 | H>L | No | TOPMed | |
rs2061564373 | 255 | H>R | No | TOPMed | |
RCV001985468 rs61749240 |
255 | H>Y | No |
ClinVar TOPMed dbSNP gnomAD |
|
COSM3441774 rs1199755219 COSM3441773 |
258 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1474556107 | 259 | L>M | No |
TOPMed gnomAD |
|
rs1364338965 | 259 | L>W | No | gnomAD | |
rs769894431 | 260 | N>S | No |
ExAC gnomAD |
|
rs374561180 | 267 | E>* | No |
ESP ExAC TOPMed gnomAD |
|
rs374561180 | 267 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs2061565268 | 268 | G>A | No | gnomAD | |
rs1431581516 | 268 | G>S | No |
TOPMed gnomAD |
|
rs2061565268 | 268 | G>V | No | gnomAD | |
COSM3441775 COSM3441776 rs1424514797 |
269 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
rs187112223 | 270 | C>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs774301672 | 271 | E>* | No |
ExAC TOPMed gnomAD |
|
rs774301672 | 271 | E>K | No |
ExAC TOPMed gnomAD |
|
rs1439165211 | 272 | K>E | No | gnomAD | |
rs771936307 | 274 | D>E | No |
ExAC gnomAD |
|
rs2061565766 | 274 | D>Y | No |
TOPMed gnomAD |
|
rs201683279 | 275 | M>L | No |
ExAC TOPMed gnomAD |
|
rs201683279 | 275 | M>V | No |
ExAC TOPMed gnomAD |
|
rs1278265755 | 276 | V>A | No | gnomAD | |
TCGA novel | 276 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2061565917 | 276 | V>L | No | Ensembl | |
rs2134500079 | 278 | S>A | No | Ensembl | |
rs2134500124 | 279 | G>D | No | Ensembl | |
rs1213761389 | 280 | D>G | No | gnomAD | |
rs1466826254 | 281 | S>I | No | gnomAD | |
rs1209041837 | 281 | S>R | No |
TOPMed gnomAD |
|
rs764817889 | 284 | R>K | No |
ExAC gnomAD |
|
rs751950223 | 285 | K>E | No |
ExAC TOPMed gnomAD |
|
rs755337510 | 285 | K>I | No |
ExAC gnomAD |
|
COSM3868095 COSM3868096 |
286 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs781597048 | 289 | D>N | No |
ExAC gnomAD |
|
rs370227059 | 292 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs370227059 | 292 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs370227059 | 292 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1309970660 | 292 | A>V | No |
TOPMed gnomAD |
|
rs192084195 | 293 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs749260720 | 295 | T>A | No |
ExAC TOPMed gnomAD |
|
rs749324639 | 295 | T>I | No |
ExAC gnomAD |
|
rs749324639 | 295 | T>N | No |
ExAC gnomAD |
|
rs2061566612 | 296 | F>V | No | Ensembl | |
COSM3441780 COSM3441779 |
297 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs771301576 | 297 | L>V | No |
ExAC gnomAD |
|
rs1397712129 | 298 | S>N | No | gnomAD | |
rs957152318 | 299 | H>R | No |
TOPMed gnomAD |
|
rs1564635702 | 300 | F>S | No | Ensembl | |
rs745692327 | 302 | D>G | No |
ExAC TOPMed gnomAD |
|
rs773458204 | 302 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs771881470 | 303 | F>L | No |
ExAC gnomAD |
|
rs760662146 | 304 | P>H | No |
ExAC gnomAD |
|
rs1332419858 | 305 | D>E | No |
TOPMed gnomAD |
|
rs577869012 | 305 | D>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs577869012 | 305 | D>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2061567177 | 306 | N>D | No | TOPMed | |
rs768558197 | 306 | N>K | No |
TOPMed gnomAD |
|
COSM5826852 COSM1349912 COSM1349911 |
306 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM466110 rs773934458 |
308 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs761269172 | 309 | D>G | No |
ExAC TOPMed gnomAD |
|
rs761269172 | 309 | D>V | No |
ExAC TOPMed gnomAD |
|
rs1464464324 | 309 | D>Y | No | TOPMed | |
rs750053159 | 310 | V>A | No |
ExAC gnomAD |
|
TCGA novel | 312 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1250994151 | 312 | E>G | No | gnomAD | |
rs534230873 | 313 | D>E | No |
1000Genomes ExAC gnomAD |
|
rs1485935185 | 313 | D>G | No |
TOPMed gnomAD |
|
COSM4926312 COSM4926310 COSM4926311 |
313 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1349914 COSM1349913 COSM5129326 rs201003341 |
314 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM3441783 COSM3441784 |
314 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs752937283 | 316 | K>E | No |
ExAC gnomAD |
|
COSM921646 COSM1585242 |
316 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs886047498 | 317 | S>I | No |
TOPMed gnomAD |
|
rs2061567932 | 318 | K>E | No | TOPMed | |
rs573916830 | 319 | K>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs17109674 | 320 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201512392 | 321 | R>P | No |
ExAC TOPMed gnomAD |
|
rs201512392 | 321 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1394931862 | 323 | T>A | No | gnomAD | |
rs1295865478 | 323 | T>S | No | gnomAD | |
rs1308826821 | 324 | L>M | No | gnomAD | |
rs1225942355 | 324 | L>S | No | gnomAD | |
rs1273592559 | 327 | R>K | No | gnomAD | |
TCGA novel | 328 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1589884909 | 329 | F>L | No | Ensembl | |
rs1212988900 | 330 | C>R | No |
TOPMed gnomAD |
|
COSM3358920 COSM3358919 |
335 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1483179479 | 337 | K>E | No | TOPMed | |
rs2061568832 | 341 | Y>C | No | TOPMed | |
rs1210892675 | 342 | T>I | No | TOPMed | |
rs1283509106 | 345 | R>G | No | Ensembl | |
rs1389986963 | 345 | R>I | No |
TOPMed gnomAD |
|
rs1389986963 | 345 | R>K | No |
TOPMed gnomAD |
|
rs368340608 | 345 | R>S | No |
ESP ExAC gnomAD |
|
rs1389986963 | 345 | R>T | No |
TOPMed gnomAD |
|
rs1176141437 | 347 | I>V | No | gnomAD | |
rs2061569275 | 349 | R>K | No | gnomAD | |
rs1336181934 | 350 | T>S | No |
TOPMed gnomAD |
|
COSM686046 COSM1646369 |
351 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1056300115 | 352 | P>L | No |
TOPMed gnomAD |
|
rs544983455 | 353 | S>T | No |
1000Genomes ExAC gnomAD |
|
rs2061569453 | 354 | G>C | No | gnomAD | |
rs2061569640 | 356 | I>F | No | Ensembl | |
rs2061569735 | 356 | I>T | No | Ensembl | |
rs2061569640 | 356 | I>V | No | Ensembl | |
rs2134502948 | 357 | G>W | No | Ensembl | |
rs894445177 | 358 | L>P | No | TOPMed | |
rs2061570006 | 360 | A>T | No | TOPMed | |
rs1432513098 | 360 | A>V | No | gnomAD | |
rs201677757 | 361 | W>* | No | TOPMed | |
rs201677757 | 361 | W>L | No | TOPMed | |
rs762520036 | 362 | S>N | No |
ExAC TOPMed |
|
rs776042399 | 365 | D>E | No |
ExAC gnomAD |
|
rs903147027 | 365 | D>V | No |
TOPMed gnomAD |
|
rs955777589 | 366 | Q>* | No | TOPMed | |
rs867011104 | 367 | K>* | No | Ensembl | |
COSM686045 COSM1646368 |
367 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM6067212 COSM6067210 COSM6067211 |
367 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs771184962 | 368 | R>S | No | Ensembl | |
rs2061570821 | 368 | R>T | No |
TOPMed gnomAD |
|
rs1185816545 | 370 | G>C | No |
TOPMed gnomAD |
|
rs764511730 | 370 | G>D | No |
ExAC TOPMed gnomAD |
|
rs764511730 | 370 | G>V | No |
ExAC TOPMed gnomAD |
|
rs867723144 | 371 | P>A | No |
TOPMed gnomAD |
|
rs371635786 | 371 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
rs371635786 | 371 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
COSM3441786 COSM3441785 |
371 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs867723144 | 371 | P>T | No |
TOPMed gnomAD |
|
rs199906617 COSM3868097 COSM3868098 |
374 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs780040765 | 377 | R>K | No |
ExAC gnomAD |
|
rs368745117 | 378 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2061571853 | 379 | M>V | No | TOPMed | |
rs1589885236 | 380 | E>D | No | Ensembl | |
rs754933489 | 381 | P>A | No |
ExAC TOPMed gnomAD |
|
rs780910033 | 381 | P>H | No |
ExAC TOPMed gnomAD |
|
rs780910033 | 381 | P>R | No |
ExAC TOPMed gnomAD |
|
rs754933489 | 381 | P>S | No |
ExAC TOPMed gnomAD |
|
rs772683273 | 382 | P>L | No |
ExAC TOPMed gnomAD |
|
rs202112015 | 383 | S>P | No |
1000Genomes ExAC gnomAD |
|
rs1394676351 | 384 | T>I | No |
TOPMed gnomAD |
|
rs1272805667 | 385 | V>A | No | gnomAD | |
rs373211588 | 385 | V>L | No |
ESP TOPMed |
|
rs1366611890 | 386 | E>* | No | gnomAD | |
rs1028504203 | 387 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs748941618 | 388 | R>S | No |
ExAC gnomAD |
|
rs770442535 | 390 | D>N | No |
ExAC gnomAD |
|
rs2061572910 | 392 | S>T | No | gnomAD | |
rs2061573033 | 393 | Q>* | No | Ensembl | |
rs760137530 | 394 | R>H | No |
ExAC TOPMed gnomAD |
|
rs529894244 | 395 | L>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs374964859 | 396 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
COSM3441787 COSM3441788 |
400 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1419025268 | 402 | P>L | No | Ensembl | |
rs1421936530 | 403 | I>M | No | TOPMed | |
rs989468480 | 403 | I>V | No | gnomAD | |
rs2046617013 | 405 | N>D | No | TOPMed | |
rs2046617097 | 405 | N>K | No | gnomAD | |
rs531179968 | 407 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1270211318 | 409 | R>I | No |
TOPMed gnomAD |
|
rs1285859675 | 409 | R>S | No | gnomAD | |
rs749717429 | 410 | E>V | No |
ExAC gnomAD |
|
TCGA novel | 411 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs757784218 | 412 | T>I | No |
ExAC TOPMed gnomAD |
|
rs757784218 | 412 | T>K | No |
ExAC TOPMed gnomAD |
|
rs779188785 | 414 | N>S | No |
ExAC TOPMed |
|
rs977349780 | 415 | T>I | No |
TOPMed gnomAD |
|
rs746234814 | 415 | T>P | No |
ExAC gnomAD |
|
rs2046619145 | 416 | V>A | No |
TOPMed gnomAD |
|
rs1483973768 | 416 | V>I | No | gnomAD | |
rs375770728 | 417 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
rs768583952 | 418 | S>A | No |
ExAC TOPMed gnomAD |
|
rs2135907716 | 419 | L>V | No | Ensembl | |
rs776797451 | 420 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs761601311 | 420 | L>R | No |
ExAC gnomAD |
|
rs769861376 | 423 | L>F | No |
ExAC TOPMed gnomAD |
|
rs769861376 | 423 | L>I | No |
ExAC TOPMed gnomAD |
|
rs1371745054 | 424 | T>A | No | gnomAD | |
rs757833114 | 424 | T>N | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 425 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1306689063 | 426 | L>F | No | gnomAD | |
rs762830348 | 428 | A>G | No |
ExAC TOPMed gnomAD |
|
rs762830348 | 428 | A>V | No |
ExAC TOPMed gnomAD |
|
rs2046620578 | 429 | S>P | No | Ensembl | |
rs2135908196 | 430 | E>G | No | Ensembl | |
rs759264866 COSM3981205 |
430 | E>K | ovary [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs200380935 RCV002244601 |
432 | A>G | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200380935 | 432 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2046621411 | 433 | H>Q | No | TOPMed | |
rs2135908297 | 433 | H>R | No | Ensembl | |
rs1344014759 | 436 | I>K | No | gnomAD | |
rs757692426 | 437 | S>N | No |
ExAC gnomAD |
|
COSM5461109 COSM5461111 COSM5461110 COSM5461112 rs1482772158 |
438 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
COSM686044 COSM1646367 COSM1146514 |
439 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1422242968 | 439 | G>D | No | gnomAD | |
rs201727715 | 439 | G>R | No |
TOPMed gnomAD |
|
rs201727715 | 439 | G>S | No |
TOPMed gnomAD |
|
TCGA novel | 440 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1391218575 | 441 | C>F | No | gnomAD | |
rs2046622845 | 441 | C>R | No | gnomAD | |
COSM3441793 COSM3441792 COSM3441794 |
441 | C>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1431996947 | 443 | K>N | No | gnomAD | |
rs1167331937 | 444 | Q>K | No | gnomAD | |
rs369517030 | 444 | Q>P | No |
ESP ExAC TOPMed gnomAD |
|
rs187314834 | 446 | V>D | No | 1000Genomes | |
RCV001896130 rs781068774 |
447 | R>* | No |
ClinVar ExAC dbSNP gnomAD |
|
rs140876132 | 447 | R>L | No |
1000Genomes ExAC gnomAD |
|
rs140876132 | 447 | R>P | No |
1000Genomes ExAC gnomAD |
|
rs140876132 | 447 | R>Q | No |
1000Genomes ExAC gnomAD |
|
rs770058603 | 448 | D>N | No |
ExAC TOPMed gnomAD |
|
rs773262919 | 449 | T>I | No |
ExAC gnomAD |
|
rs116996657 | 450 | V>A | No |
1000Genomes ExAC gnomAD |
|
rs2046624714 | 451 | C>R | No | gnomAD | |
rs1312653010 | 452 | E>A | No |
TOPMed gnomAD |
|
rs1312653010 | 452 | E>G | No |
TOPMed gnomAD |
|
rs2046625103 | 453 | Y>H | No |
TOPMed gnomAD |
|
rs759052382 | 454 | R>C | No |
ExAC TOPMed gnomAD |
|
rs796709138 | 454 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs752358441 | 455 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1421030425 | 456 | T>N | No | gnomAD | |
rs1173503822 | 459 | R>K | No | gnomAD | |
rs1590089276 | 460 | T>I | No | Ensembl | |
rs945128964 | 461 | S>L | No | TOPMed | |
rs760161309 | 462 | I>M | No |
ExAC gnomAD |
|
rs1263170493 | 462 | I>T | No |
TOPMed gnomAD |
|
rs2046626116 | 462 | I>V | No | TOPMed | |
rs763640206 COSM1646366 COSM1146515 COSM686043 |
463 | S>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs1187018122 | 463 | S>P | No |
TOPMed gnomAD |
|
rs1306287584 | 464 | Q>P | No |
TOPMed gnomAD |
|
rs569393306 | 465 | Y>S | No |
1000Genomes ExAC gnomAD |
|
rs2046627483 | 466 | I>T | No | Ensembl | |
rs1465104605 | 466 | I>V | No | gnomAD | |
rs1452138098 | 468 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs903544158 | 468 | G>S | No |
TOPMed gnomAD |
|
rs17508082 | 469 | S>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3441797 COSM3441796 COSM3441795 |
470 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs980321568 | 470 | L>I | No | Ensembl | |
rs575908537 | 471 | L>I | No |
ExAC TOPMed gnomAD |
|
rs748431259 | 471 | L>Q | No |
ExAC gnomAD |
|
rs371884091 | 473 | A>G | No |
TOPMed gnomAD |
|
rs1299085187 | 473 | A>T | No | gnomAD | |
rs371884091 | 473 | A>V | No |
TOPMed gnomAD |
|
rs200830976 | 474 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs886047499 | 474 | T>N | No | gnomAD | |
rs769965610 | 475 | T>K | No |
ExAC TOPMed gnomAD |
|
rs769965610 | 475 | T>M | No |
ExAC TOPMed gnomAD |
|
rs749189889 | 476 | S>T | No |
ExAC gnomAD |
|
rs1412024507 | 479 | A>T | No | TOPMed | |
rs2046629622 | 482 | G>D | No | TOPMed | |
rs2046629544 | 482 | G>S | No | TOPMed | |
rs376905496 | 483 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
rs2046629807 | 484 | L>R | No | TOPMed | |
rs2046629894 | 485 | S>C | No | Ensembl | |
rs773950474 | 486 | T>I | No |
ExAC gnomAD |
|
rs1489004720 COSM1139525 |
487 | F>L | lung [Cosmic] | No |
cosmic curated gnomAD |
rs940715174 | 488 | G>R | No | Ensembl | |
rs951540403 | 489 | G>A | No | TOPMed | |
rs377605811 | 489 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 489 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs760357464 | 490 | S>P | No |
ExAC TOPMed gnomAD |
|
rs901826866 | 492 | G>R | No | Ensembl | |
rs763387612 | 493 | R>Q | No |
ExAC gnomAD |
|
rs1249996267 | 495 | M>I | No | gnomAD | |
rs766906990 | 495 | M>R | No |
ExAC gnomAD |
|
rs2046631636 | 497 | K>R | No | TOPMed | |
rs1404447144 | 498 | E>Q | No | gnomAD | |
rs61751493 | 499 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1331936652 | 500 | Q>* | No | gnomAD | |
rs2047963296 | 500 | Q>H | No | TOPMed | |
rs1237728742 | 501 | P>A | No | gnomAD | |
rs371545313 | 501 | P>L | No |
ESP ExAC gnomAD |
|
rs1237728742 | 501 | P>T | No | gnomAD | |
rs927084372 | 502 | G>A | No | gnomAD | |
rs927084372 | 502 | G>D | No | gnomAD | |
rs200875238 | 502 | G>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs181228584 | 503 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs746806934 | 504 | S>F | No |
ExAC gnomAD |
|
rs780803829 | 505 | V>L | No |
ExAC TOPMed gnomAD |
|
COSM1152213 | 505 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2047964359 | 506 | A>T | No | gnomAD | |
rs766326899 | 507 | N>D | No |
ExAC gnomAD |
|
rs766326899 | 507 | N>H | No |
ExAC gnomAD |
|
rs1590176627 | 507 | N>S | No | Ensembl | |
rs1590176627 | 507 | N>T | No | Ensembl | |
rs998892346 | 508 | S>A | No | Ensembl | |
rs769308791 | 508 | S>Y | No |
ExAC gnomAD |
|
rs1159752358 | 509 | N>K | No |
TOPMed gnomAD |
|
rs1473457358 | 510 | A>V | No | gnomAD | |
rs772621903 | 511 | L>F | No |
ExAC gnomAD |
|
rs1382585182 | 512 | P>L | No |
TOPMed gnomAD |
|
rs2047964962 | 512 | P>T | No | Ensembl | |
TCGA novel | 513 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2047965270 TCGA novel |
513 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs2047965527 | 514 | S>N | No | Ensembl | |
rs2047965698 | 515 | S>L | No | Ensembl | |
rs1300461089 | 516 | A>S | No | gnomAD | |
rs375109167 | 519 | S>G | No |
ESP TOPMed |
|
COSM6067202 COSM6067200 COSM6067199 COSM6067201 |
520 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs945679453 | 522 | L>M | No |
TOPMed gnomAD |
|
rs2047966560 | 523 | I>M | No |
1000Genomes TOPMed gnomAD |
|
COSM198849 rs761107139 COSM5117632 COSM5117630 COSM5117631 |
524 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs761107139 | 524 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs764601690 COSM6130803 COSM1506413 COSM6130806 COSM6130805 COSM6130804 |
526 | Q>H | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated ExAC gnomAD NCI-TCGA Cosmic |
rs377031690 | 527 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
rs377031690 | 527 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
rs761968908 | 529 | I>T | No |
ExAC TOPMed gnomAD |
|
rs1449861664 | 530 | Q>* | No | gnomAD | |
rs1415198205 | 530 | Q>R | No | Ensembl | |
rs556484452 | 532 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM4573914 rs1426033120 COSM4573913 COSM4573912 |
536 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs1014453435 | 537 | S>I | No |
1000Genomes TOPMed |
|
rs1014453435 | 537 | S>N | No |
1000Genomes TOPMed |
|
rs1023103811 | 538 | I>M | No | TOPMed | |
rs1416236768 | 538 | I>N | No |
TOPMed gnomAD |
|
rs754740363 | 542 | Q>H | No |
ExAC TOPMed |
|
rs2047968511 | 543 | E>G | No |
TOPMed gnomAD |
|
rs1436302444 | 544 | Q>R | No | gnomAD | |
rs780996293 | 546 | I>V | No |
ExAC TOPMed gnomAD |
|
rs17417407 | 548 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs770620916 | 550 | V>A | No |
ExAC TOPMed gnomAD |
|
rs377400616 | 550 | V>I | No |
ESP TOPMed |
|
rs559300385 | 551 | L>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 552 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs370540250 | 553 | V>I | No |
1000Genomes ESP ExAC gnomAD |
|
rs781026952 | 554 | D>N | No |
ExAC TOPMed gnomAD |
|
COSM3441802 COSM3441803 COSM5837486 rs541692822 COSM3441801 |
556 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
COSM1349916 COSM1349918 COSM1349917 COSM5131287 |
556 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs541692822 | 556 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs765379329 | 557 | C>F | No |
ExAC gnomAD |
|
rs750719125 | 559 | L>F | No |
ExAC gnomAD |
|
rs763000355 | 560 | T>A | No |
ExAC gnomAD |
|
rs2047970494 | 560 | T>I | No | TOPMed | |
rs375307339 | 561 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
COSM1349920 rs186743876 |
561 | R>W | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
COSM3441805 COSM3441804 COSM3441806 |
562 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1381945637 | 563 | L>S | No | gnomAD | |
COSM6067196 COSM6067197 COSM343911 COSM6067198 |
564 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs754931497 | 564 | G>V | No |
ExAC TOPMed gnomAD |
|
rs557560167 | 565 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1433716770 | 565 | T>I | No | gnomAD | |
rs1433716770 | 565 | T>N | No | gnomAD | |
rs557560167 | 565 | T>S | No |
ExAC gnomAD |
|
rs1564753542 | 566 | P>L | No | TOPMed | |
TCGA novel | 569 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs749018318 | 572 | L>F | No | ExAC | |
rs1590177206 | 572 | L>W | No | TOPMed | |
rs1323830446 | 573 | P>L | No | Ensembl | |
rs1291594905 | 574 | C>S | No | TOPMed | |
rs1225640410 | 575 | L>R | No |
TOPMed gnomAD |
|
rs756796071 | 575 | L>V | No |
ExAC gnomAD |
|
rs778594716 | 576 | K>E | No |
ExAC gnomAD |
|
rs141639885 | 577 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs934381964 | 578 | S>A | No | Ensembl | |
rs2047972927 | 579 | I>T | No | Ensembl | |
rs368809484 | 579 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
rs895454088 | 580 | S>A | No | Ensembl | |
rs11596200 | 581 | A>T | No | Ensembl | |
rs1472959016 | 581 | A>V | No | gnomAD | |
rs748451084 | 582 | S>L | No |
ExAC gnomAD |
|
COSM1317408 COSM1317409 COSM1317410 |
584 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1292831482 | 585 | T>A | No | Ensembl | |
rs763196962 | 585 | T>N | No |
ExAC gnomAD |
|
rs1393290706 | 586 | T>I | No | gnomAD | |
rs1393290706 | 586 | T>N | No | gnomAD | |
rs1423348072 | 588 | N>D | No | gnomAD | |
rs766398340 | 588 | N>K | No |
ExAC TOPMed gnomAD |
|
rs1164122278 | 589 | G>E | No | gnomAD | |
rs2047974886 | 590 | E>G | No | Ensembl | |
rs906050136 | 591 | H>Y | No | TOPMed | |
rs2047975328 | 592 | N>S | No | Ensembl | |
rs2047975245 | 592 | N>Y | No | Ensembl | |
rs2047975409 | 593 | A>V | No | Ensembl | |
rs774429019 | 594 | L>H | No |
ExAC gnomAD |
|
rs1350645474 | 594 | L>I | No | gnomAD | |
rs774429019 | 594 | L>P | No |
ExAC gnomAD |
|
rs866437239 | 595 | E>K | No | Ensembl | |
rs767353083 | 596 | D>E | No |
ExAC TOPMed gnomAD |
|
rs755841557 | 598 | V>M | No |
ExAC TOPMed gnomAD |
|
rs1296578588 | 599 | M>I | No | gnomAD | |
rs763989985 | 599 | M>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 600 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2047976698 | 600 | R>W | No | TOPMed | |
rs2047976871 | 601 | F>L | No | TOPMed | |
rs61751495 | 602 | N>D | No |
ESP ExAC TOPMed gnomAD |
|
rs61751495 | 602 | N>H | No |
ESP ExAC TOPMed gnomAD |
|
rs554159388 | 603 | E>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM1646365 COSM686042 COSM1146516 |
603 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs554159388 | 603 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2047977233 | 603 | E>V | No | TOPMed | |
rs778281055 | 604 | V>M | No |
TOPMed gnomAD |
|
rs2049980213 | 607 | W>* | No | TOPMed | |
rs979353907 | 607 | W>* | No | Ensembl | |
rs756658359 | 609 | T>I | No |
ExAC gnomAD |
|
rs749650847 | 610 | W>* | No |
ExAC gnomAD |
|
rs1294764092 | 610 | W>R | No | gnomAD | |
COSM1585239 COSM921648 COSM1585238 |
611 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1208771113 | 613 | L>F | No |
TOPMed gnomAD |
|
rs1485655194 | 613 | L>P | No |
TOPMed gnomAD |
|
rs752386035 | 614 | T>M | No |
TOPMed gnomAD |
|
rs2049981312 | 616 | G>R | No | TOPMed | |
rs2049981711 | 618 | M>I | No | Ensembl | |
rs200180170 | 618 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
rs746126689 | 618 | M>T | No |
ExAC gnomAD |
|
rs200180170 | 618 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1589381574 | 619 | E>G | No | Ensembl | |
rs1589381584 | 620 | E>G | No | Ensembl | |
rs778222582 | 620 | E>K | No |
ExAC gnomAD |
|
rs775660349 | 621 | K>E | No |
ExAC gnomAD |
|
rs1564806961 | 622 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
rs376708637 | 622 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs1471710477 | 623 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1589381624 | 624 | V>G | No | Ensembl | |
rs768638774 | 627 | Y>H | No |
ExAC gnomAD |
|
rs776774194 | 628 | L>F | No |
ExAC gnomAD |
|
rs1589381648 | 628 | L>S | No | Ensembl | |
TCGA novel | 630 | H>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs761685163 | 630 | H>R | No |
ExAC gnomAD |
|
TCGA novel | 630 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs765167668 | 632 | A>S | No |
ExAC TOPMed gnomAD |
|
rs765167668 | 632 | A>T | No |
ExAC TOPMed gnomAD |
|
rs2049983582 | 633 | K>E | No | TOPMed | |
TCGA novel | 633 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs750064042 | 634 | C>Y | No |
ExAC gnomAD |
|
rs1288229733 | 636 | W>G | No | gnomAD | |
rs369780470 | 638 | M>K | No |
ESP ExAC TOPMed gnomAD |
|
rs1162562876 | 639 | G>D | No |
TOPMed gnomAD |
|
rs765752967 | 639 | G>S | No |
ExAC gnomAD |
|
rs1285314783 | 640 | N>D | No | gnomAD | |
rs1321467584 | 640 | N>S | No | gnomAD | |
rs1223188527 | 641 | Y>* | No | gnomAD | |
COSM3441810 COSM3441811 COSM3441812 |
645 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel rs2049984813 |
645 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs1158028629 | 646 | E>Q | No | TOPMed | |
rs754390309 | 647 | F>L | No |
ExAC gnomAD |
|
rs867638196 | 647 | F>L | No | gnomAD | |
rs368943095 | 647 | F>S | No |
ESP ExAC gnomAD |
|
rs779280589 | 649 | A>S | No |
ExAC gnomAD |
|
rs2049985812 | 651 | L>F | No | TOPMed | |
COSM5212620 COSM1474881 COSM1474879 COSM1474880 |
652 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2050235161 | 653 | S>P | No | Ensembl | |
COSM1585235 COSM921651 COSM1585234 |
654 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs771164731 | 655 | K>E | No | Ensembl | |
rs1049081999 | 655 | K>R | No |
TOPMed gnomAD |
|
rs1049081999 | 655 | K>T | No |
TOPMed gnomAD |
|
rs1475640405 | 656 | V>F | No |
TOPMed gnomAD |
|
rs1475640405 | 656 | V>L | No |
TOPMed gnomAD |
|
rs1259909740 | 657 | L>* | No | Ensembl | |
rs776791387 | 657 | L>F | No |
TOPMed gnomAD |
|
TCGA novel | 658 | K>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2050235876 | 659 | M>I | No |
TOPMed gnomAD |
|
rs200246546 | 662 | F>C | No | TOPMed | |
COSM6067193 COSM6067194 COSM6067195 COSM6067192 |
662 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs200246546 | 662 | F>S | No | TOPMed | |
rs755071593 | 665 | Q>* | No |
ExAC gnomAD |
|
rs781446502 | 665 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs1205637132 | 665 | Q>P | No |
TOPMed gnomAD |
|
rs367656255 | 666 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
rs1313577956 | 670 | T>I | No |
TOPMed gnomAD |
|
rs1313577956 | 670 | T>N | No |
TOPMed gnomAD |
|
rs2050236802 | 670 | T>P | No | Ensembl | |
rs1313577956 | 670 | T>S | No |
TOPMed gnomAD |
|
rs1229744391 | 671 | M>I | No |
TOPMed gnomAD |
|
rs1359294597 | 671 | M>L | No | gnomAD | |
rs2050237216 | 671 | M>T | No | TOPMed | |
rs2050237389 | 672 | R>K | No |
TOPMed gnomAD |
|
TCGA novel | 672 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs773350820 | 673 | S>I | No |
ExAC TOPMed gnomAD |
|
rs773350820 | 673 | S>N | No |
ExAC TOPMed gnomAD |
|
rs370241315 | 673 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
COSM1585232 COSM1585233 COSM921652 |
676 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1237624507 | 677 | A>T | No |
TOPMed gnomAD |
|
rs2050237912 | 677 | A>V | No | Ensembl | |
rs1181484025 | 678 | M>I | No | gnomAD | |
rs201422605 | 678 | M>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1030969242 | 679 | A>T | No | TOPMed | |
rs2050238409 | 680 | Q>H | No | gnomAD | |
rs770083822 | 681 | H>R | No |
ExAC TOPMed gnomAD |
|
COSM3415371 COSM5079183 COSM3415372 COSM3415373 |
681 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1216844157 | 682 | E>A | No | gnomAD | |
rs1216844157 | 682 | E>V | No | gnomAD | |
rs1170403037 | 683 | S>F | No |
TOPMed gnomAD |
|
rs2050238839 | 683 | S>T | No | gnomAD | |
rs2050239028 | 684 | S>F | No | Ensembl | |
rs1462050295 | 685 | C>S | No |
TOPMed gnomAD |
|
rs2050239326 | 685 | C>W | No | gnomAD | |
rs1462050295 | 685 | C>Y | No |
TOPMed gnomAD |
|
COSM1152215 | 686 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1297291863 | 689 | K>N | No | Ensembl | |
rs12768416 | 690 | V>A | No | Ensembl | |
rs12768416 | 690 | V>G | No | Ensembl | |
rs1408215263 | 691 | V>A | No |
TOPMed gnomAD |
|
rs750947203 | 692 | T>I | No |
ExAC TOPMed gnomAD |
|
rs750947203 | 692 | T>R | No |
ExAC TOPMed gnomAD |
|
COSM1349923 COSM1349922 COSM5140960 COSM1349924 |
692 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs766687684 | 693 | R>C | No |
ExAC TOPMed gnomAD |
|
COSM1349926 rs866040967 COSM352323 COSM1349925 COSM5089719 |
693 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs375465343 | 696 | H>L | No |
ESP ExAC gnomAD |
|
TCGA novel | 698 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2050240677 | 698 | P>R | No | TOPMed | |
TCGA novel | 698 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 699 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs755267829 | 700 | C>Y | No |
ExAC gnomAD |
|
rs781358365 | 702 | V>A | No |
ExAC gnomAD |
|
rs748234743 | 703 | V>F | No |
ExAC TOPMed gnomAD |
|
rs2050241334 | 706 | C>R | No | Ensembl | |
rs574681547 | 707 | G>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs749225777 | 708 | V>A | No |
ExAC TOPMed gnomAD |
|
rs749225777 | 708 | V>E | No |
ExAC TOPMed gnomAD |
|
rs1167364270 | 709 | F>L | No | gnomAD | |
rs953269160 | 710 | L>P | No |
TOPMed gnomAD |
|
rs2050242046 | 711 | K>R | No |
TOPMed gnomAD |
|
rs2137295429 | 712 | E>G | No | Ensembl | |
rs774037165 | 714 | C>F | No |
ExAC TOPMed gnomAD |
|
rs2137295471 | 714 | C>R | No | Ensembl | |
rs774037165 | 714 | C>S | No |
ExAC TOPMed gnomAD |
|
rs1274580178 | 715 | E>D | No |
TOPMed gnomAD |
|
rs764624873 | 715 | E>K | No |
TOPMed gnomAD |
|
rs771716896 | 719 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs532351295 COSM1474883 |
720 | A>T | breast [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
COSM3441814 COSM3441813 COSM3441815 |
723 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs763394762 | 724 | M>L | No |
ExAC TOPMed gnomAD |
|
rs140596357 | 724 | M>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs763394762 | 724 | M>V | No |
ExAC TOPMed gnomAD |
|
rs751878309 | 728 | P>L | No |
ExAC TOPMed gnomAD |
|
rs767839016 | 729 | R>L | No |
ExAC TOPMed gnomAD |
|
rs767839016 | 729 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs2050244014 | 729 | R>W | No |
TOPMed gnomAD |
|
rs969149092 | 731 | N>D | No |
TOPMed gnomAD |
|
COSM3441818 COSM3441816 COSM3441817 |
732 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs373425084 | 733 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
rs2050244914 | 735 | E>A | No | Ensembl | |
rs777744481 | 735 | E>D | No |
ExAC gnomAD |
|
rs2050245093 | 736 | T>I | No | TOPMed | |
rs2050245184 | 737 | L>S | No | TOPMed | |
COSM6067191 COSM6067190 COSM6067188 COSM6067189 |
738 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1454663268 | 738 | E>D | No | gnomAD | |
rs1428784948 | 738 | E>K | No | gnomAD | |
rs944765770 | 740 | V>L | No |
TOPMed gnomAD |
|
rs11187829 | 742 | D>Y | No | Ensembl | |
TCGA novel | 743 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2050307344 | 744 | S>I | No | TOPMed | |
rs1291205175 | 744 | S>R | No | gnomAD | |
rs1480998769 | 745 | G>E | No | gnomAD | |
rs1213897479 | 746 | Q>E | No | TOPMed | |
rs753867049 | 746 | Q>R | No |
ExAC gnomAD |
|
rs1248624002 | 747 | D>N | No | gnomAD | |
rs778698239 | 748 | N>Y | No |
ExAC gnomAD |
|
rs1589395609 | 749 | F>L | No | Ensembl | |
rs1387431754 | 750 | L>S | No | gnomAD | |
rs750405323 COSM1970368 |
752 | R>* | central_nervous_system [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
COSM5837487 COSM5837490 COSM5837489 COSM5837488 |
752 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs758156206 | 752 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs777426672 | 753 | V>M | No |
TOPMed gnomAD |
|
rs2050309437 | 754 | G>A | No | Ensembl | |
TCGA novel rs746608788 |
754 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
rs768199585 | 756 | N>K | No |
ExAC gnomAD |
|
rs1293747652 | 759 | K>Q | No | Ensembl | |
rs1433151711 | 760 | N>K | No | Ensembl | |
rs376554016 | 761 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
rs769399012 | 762 | E>D | No |
ExAC gnomAD |
|
rs1395256114 | 762 | E>K | No | gnomAD | |
rs1170242242 | 764 | E>D | No | TOPMed | |
rs774971762 | 764 | E>G | No |
ExAC gnomAD |
|
rs1380292836 | 765 | S>C | No | gnomAD | |
rs760154119 | 766 | T>I | No |
ExAC TOPMed gnomAD |
|
rs772518223 | 767 | V>A | No |
ExAC TOPMed gnomAD |
|
rs2137327219 | 767 | V>I | No | Ensembl | |
rs760881877 | 768 | N>T | No |
ExAC TOPMed gnomAD |
|
rs2137327391 | 769 | S>T | No | Ensembl | |
rs764214312 | 770 | I>T | No |
ExAC gnomAD |
|
rs1245412653 | 775 | R>Q | No |
TOPMed gnomAD |
|
rs370127450 | 778 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
rs750319129 | 779 | R>P | No |
ExAC TOPMed gnomAD |
|
rs750319129 | 779 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs1589395804 | 780 | S>I | No | Ensembl | |
rs758346786 | 782 | E>D | No |
ExAC gnomAD |
|
rs766097369 | 783 | T>A | No |
ExAC gnomAD |
|
rs1371978421 | 784 | D>G | No |
TOPMed gnomAD |
|
rs376994717 | 785 | E>* | No |
ESP ExAC TOPMed gnomAD |
|
rs376994717 | 785 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs1469051094 | 786 | E>D | No | gnomAD | |
rs1002583376 | 786 | E>K | No |
TOPMed gnomAD |
|
rs780690530 | 787 | D>E | No |
ExAC gnomAD |
|
rs747879044 | 788 | S>G | No |
ExAC TOPMed gnomAD |
|
rs572497944 | 788 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs201028754 | 789 | P>A | No |
1000Genomes gnomAD |
|
rs2050313959 | 789 | P>L | No | gnomAD | |
rs201028754 | 789 | P>S | No |
1000Genomes gnomAD |
|
rs777451047 | 790 | S>G | No |
ExAC gnomAD |
|
rs1346509519 | 792 | G>R | No |
TOPMed gnomAD |
|
rs2050314589 | 793 | N>K | No | TOPMed | |
rs2050314484 | 793 | N>S | No | TOPMed | |
COSM4165588 rs2050314693 |
794 | S>R | kidney [Cosmic] | No |
cosmic curated Ensembl |
rs2050314792 | 796 | R>G | No | TOPMed | |
rs541915097 | 796 | R>S | No | Ensembl | |
rs746317392 | 797 | K>Q | No |
ExAC gnomAD |
|
rs772708077 | 801 | K>Q | No |
ExAC TOPMed gnomAD |
|
rs776201612 | 802 | D>N | No |
ExAC TOPMed gnomAD |
|
rs1261856507 | 803 | K>R | No | gnomAD | |
rs1564815734 | 804 | S>R | No | Ensembl | |
rs757088793 | 805 | R>L | No |
ExAC TOPMed gnomAD |
|
rs757088793 | 805 | R>P | No |
ExAC TOPMed gnomAD |
|
COSM4899007 COSM4899008 rs757088793 COSM4899010 COSM4899009 |
805 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1297912148 | 806 | W>R | No |
TOPMed gnomAD |
|
rs780684028 | 807 | Q>H | No |
ExAC gnomAD |
|
rs762125266 | 807 | Q>P | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 808 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1585230 COSM1585231 COSM921655 |
809 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs368230381 | 809 | I>V | No |
ESP ExAC gnomAD |
|
rs1266118189 | 810 | I>T | No | gnomAD | |
rs539472268 | 811 | G>E | No |
1000Genomes ExAC gnomAD |
|
rs2050663681 | 811 | G>R | No | Ensembl | |
rs770001198 | 812 | D>H | No |
ExAC TOPMed gnomAD |
|
rs770001198 | 812 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs1289346091 | 813 | L>F | No |
TOPMed gnomAD |
|
rs2050664204 | 815 | D>E | No | Ensembl | |
rs2050664129 | 815 | D>Y | No | Ensembl | |
rs762998243 | 817 | D>N | No |
ExAC TOPMed gnomAD |
|
rs771042502 | 817 | D>V | No |
ExAC TOPMed gnomAD |
|
COSM1646363 COSM1146518 COSM686040 |
818 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2050664772 | 819 | D>N | No | Ensembl | |
rs1293673641 | 820 | I>F | No |
TOPMed gnomAD |
|
rs1293673641 | 820 | I>V | No |
TOPMed gnomAD |
|
rs2050665049 | 822 | E>K | No | TOPMed | |
rs1341339587 | 824 | S>A | No |
TOPMed gnomAD |
|
rs759542875 | 827 | Y>D | No |
ExAC TOPMed gnomAD |
|
rs759542875 | 827 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs752538893 | 828 | D>N | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 830 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1322398478 | 830 | H>R | No |
TOPMed gnomAD |
|
rs1298895117 | 830 | H>Y | No |
TOPMed gnomAD |
|
rs760609959 | 831 | G>R | No |
ExAC TOPMed gnomAD |
|
rs760609959 | 831 | G>S | No |
ExAC TOPMed gnomAD |
|
rs1222377922 | 831 | G>V | No | gnomAD | |
rs2050666368 | 833 | E>Q | No | Ensembl | |
rs2050666527 | 834 | D>H | No | TOPMed | |
rs2050666622 | 835 | S>L | No | Ensembl | |
rs376083354 | 837 | K>* | No |
ESP TOPMed |
|
rs376083354 | 837 | K>E | No |
ESP TOPMed |
|
rs1386978841 | 837 | K>N | No |
TOPMed gnomAD |
|
rs2050667027 | 838 | A>S | No | TOPMed | |
rs756796239 | 840 | D>G | No |
ExAC gnomAD |
|
rs200455333 | 840 | D>N | No |
ExAC TOPMed gnomAD |
|
rs778596911 | 841 | H>D | No |
ExAC gnomAD |
|
rs751960203 | 841 | H>P | No |
ExAC TOPMed gnomAD |
|
rs755520745 | 841 | H>Q | No |
ExAC TOPMed gnomAD |
|
rs748533923 | 842 | G>E | No |
ExAC TOPMed gnomAD |
|
rs770194045 | 843 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1171042109 | 846 | I>M | No |
TOPMed gnomAD |
|
RCV001761136 rs2050668187 |
847 | P>A | No |
ClinVar TOPMed dbSNP gnomAD |
|
rs2050668279 | 848 | W>C | No |
TOPMed gnomAD |
|
rs201457945 | 850 | V>M | No |
ExAC TOPMed gnomAD |
|
rs774506744 | 852 | S>C | No |
ExAC gnomAD |
|
rs774506744 | 852 | S>Y | No |
ExAC gnomAD |
|
rs200483837 | 853 | I>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM3985822 COSM3985820 COSM3985821 |
853 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs772039022 | 855 | A>T | No |
ExAC TOPMed gnomAD |
|
rs775344140 | 855 | A>V | No |
ExAC gnomAD |
|
rs1313467465 | 856 | D>E | No | gnomAD | |
COSM6037354 COSM6037356 COSM6037357 rs764021031 COSM6037355 |
856 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs764021031 | 856 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs764592323 | 857 | V>G | No | ExAC | |
rs761578986 | 857 | V>M | No |
ExAC gnomAD |
|
rs536046544 | 858 | H>Q | No |
1000Genomes ExAC gnomAD |
|
rs2050669751 | 858 | H>R | No | Ensembl | |
rs1589412559 | 859 | Q>E | No | Ensembl | |
rs1274712375 | 863 | Q>* | No | gnomAD | |
rs1038818069 | 863 | Q>H | No | Ensembl | |
rs781709034 | 864 | G>E | No |
ExAC gnomAD |
|
rs757905871 | 864 | G>R | No |
ExAC gnomAD |
|
rs191731938 | 865 | A>S | No |
1000Genomes ExAC gnomAD |
|
rs191731938 | 865 | A>T | No |
1000Genomes ExAC gnomAD |
|
rs575911826 | 865 | A>V | No |
1000Genomes ExAC gnomAD |
|
rs749456827 | 866 | T>M | No |
ExAC TOPMed gnomAD |
|
rs745944178 | 869 | H>Q | No |
ExAC gnomAD |
|
COSM1220932 rs772089398 |
871 | D>N | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs950362451 | 871 | D>V | No | TOPMed | |
rs2050671324 | 872 | Q>R | No | TOPMed | |
rs1342856003 | 874 | T>R | No |
TOPMed gnomAD |
|
rs1273728936 | 875 | H>Y | No | Ensembl | |
rs2050671762 | 877 | S>F | No | Ensembl | |
rs746973887 | 878 | A>V | No |
ExAC gnomAD |
|
rs374847453 | 879 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
rs1346951131 | 880 | C>R | No |
TOPMed gnomAD |
|
rs199588346 | 881 | F>C | No |
ExAC TOPMed gnomAD |
|
rs199588346 | 881 | F>S | No |
ExAC TOPMed gnomAD |
|
rs1271479389 | 884 | L>F | No | gnomAD | |
TCGA novel | 885 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs199780413 | 886 | P>S | No | Ensembl | |
rs772791356 | 887 | D>N | No |
ExAC TOPMed gnomAD |
|
rs1263314743 | 888 | N>D | No |
TOPMed gnomAD |
|
rs1263314743 | 888 | N>H | No |
TOPMed gnomAD |
|
rs1162021268 | 888 | N>S | No | gnomAD | |
rs2050673265 | 889 | S>N | No | TOPMed | |
COSM3967236 COSM3967234 COSM3967235 |
891 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1201497545 | 893 | W>* | No | gnomAD | |
rs756631887 | 895 | K>N | No |
ExAC TOPMed gnomAD |
|
rs753156935 | 895 | K>R | No | ExAC | |
rs2050673844 | 896 | P>T | No | TOPMed | |
rs2050673933 | 897 | T>K | No |
TOPMed gnomAD |
|
rs1447566018 | 898 | T>A | No | gnomAD | |
rs764378302 | 899 | A>S | No |
ExAC gnomAD |
|
rs754200278 | 899 | A>V | No |
ExAC TOPMed gnomAD |
|
rs1193228304 | 900 | S>F | No | gnomAD | |
COSM1152217 | 902 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1481470094 | 903 | S>N | No | TOPMed | |
rs2050674801 | 903 | S>R | No | gnomAD | |
rs757617776 | 903 | S>R | No |
ExAC TOPMed gnomAD |
|
COSM6130796 COSM6130795 COSM1506407 COSM6130797 COSM6130798 rs749091097 |
906 | A>E | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs749091097 | 906 | A>V | No |
TOPMed gnomAD |
|
rs2050675191 | 908 | L>F | No | Ensembl | |
TCGA novel | 908 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1181732024 | 909 | G>D | No | TOPMed | |
rs1023013888 | 911 | L>F | No |
TOPMed gnomAD |
|
rs2050675809 | 911 | L>P | No | TOPMed | |
rs1023013888 | 911 | L>V | No |
TOPMed gnomAD |
|
COSM72213 | 912 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2050675908 | 913 | N>D | No | Ensembl | |
rs2137515728 | 913 | N>S | No | Ensembl | |
rs970162626 | 914 | T>R | No | Ensembl | |
rs1320844399 | 923 | L>V | No | gnomAD | |
rs879061152 | 924 | G>V | No | gnomAD | |
rs973537952 | 926 | A>V | No |
TOPMed gnomAD |
|
rs1283564915 | 927 | G>R | No | gnomAD | |
rs780303607 | 928 | L>F | No |
ExAC gnomAD |
|
rs61732521 RCV000712691 |
929 | S>T | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1274092765 | 930 | S>I | No | gnomAD | |
rs768717488 | 930 | S>R | No |
ExAC gnomAD |
|
rs776768312 | 932 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1487360805 | 934 | G>V | No | gnomAD | |
TCGA novel | 935 | V>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2050677555 | 935 | V>I | No | gnomAD | |
COSM686039 COSM1146519 COSM1646362 |
937 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs772882305 | 938 | L>F | No |
ExAC TOPMed gnomAD |
|
rs772882305 | 938 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs772882305 | 938 | L>V | No |
ExAC TOPMed gnomAD |
|
rs765860462 | 942 | K>N | No |
ExAC gnomAD |
|
COSM4840166 COSM4840167 COSM4840165 COSM4840164 |
942 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2050678561 | 944 | V>I | No | TOPMed | |
rs764568518 | 945 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs759116659 | 945 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs754390172 | 946 | M>I | No |
ExAC gnomAD |
|
rs1419597023 | 946 | M>K | No | gnomAD | |
rs1564824750 | 946 | M>L | No | Ensembl | |
rs1419597023 | 946 | M>T | No | gnomAD | |
rs2050679175 | 947 | G>C | No | TOPMed | |
rs2050679175 | 947 | G>S | No | TOPMed | |
rs1589413093 | 949 | P>A | No | Ensembl | |
TCGA novel | 949 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1589413093 | 949 | P>S | No | Ensembl | |
rs911535516 | 950 | G>R | No | gnomAD | |
rs911535516 | 950 | G>S | No | gnomAD | |
rs1355716225 | 951 | I>V | No | gnomAD | |
rs750609293 | 953 | I>M | No |
ExAC gnomAD |
|
COSM4940134 COSM4940135 COSM4940137 COSM4940136 |
953 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs369531579 | 953 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
rs373257538 | 955 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
rs780213480 | 955 | T>I | No |
ExAC TOPMed gnomAD |
|
rs2137518055 | 956 | V>M | No | Ensembl | |
rs2050680729 | 957 | C>Y | No | gnomAD | |
rs955386857 | 958 | V>A | No |
TOPMed gnomAD |
|
TCGA novel rs2050681205 |
960 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs2050681336 | 961 | K>E | No | TOPMed | |
rs755159339 | 963 | G>R | No |
ExAC gnomAD |
|
rs1266883654 | 964 | S>G | No | gnomAD | |
rs781246375 | 964 | S>I | No |
ExAC gnomAD |
|
rs1178702807 | 965 | M>I | No |
TOPMed gnomAD |
|
rs1015462195 | 965 | M>V | No | TOPMed | |
rs1184475250 | 966 | F>L | No | gnomAD | |
rs2050683027 | 968 | S>T | No | Ensembl | |
rs769583065 | 969 | E>D | No |
ExAC gnomAD |
|
rs748066952 | 969 | E>K | No |
ExAC gnomAD |
|
rs748066952 | 969 | E>Q | No |
ExAC gnomAD |
|
rs921680781 | 971 | G>A | No |
TOPMed gnomAD |
|
rs1386567169 | 976 | Y>C | No |
TOPMed gnomAD |
|
COSM3441819 COSM3441821 COSM3441820 |
977 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs777446204 | 978 | L>F | No |
ExAC gnomAD |
|
rs369699653 | 979 | Q>E | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 979 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs770488694 | 980 | T>A | No |
ExAC gnomAD |
|
rs2050684856 | 981 | T>I | No | gnomAD | |
rs1375857629 | 982 | D>E | No | gnomAD | |
COSM3441824 COSM3441822 COSM3441823 rs759022354 |
982 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel rs2050685801 |
987 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs763441024 | 989 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs2050686506 | 990 | A>V | No | TOPMed | |
rs2050686578 | 991 | P>A | No |
TOPMed gnomAD |
|
rs2050686578 | 991 | P>T | No |
TOPMed gnomAD |
|
rs2050686970 | 993 | H>R | No | Ensembl | |
rs2050686872 | 993 | H>Y | No | Ensembl | |
rs1378903754 | 994 | T>A | No |
TOPMed gnomAD |
|
rs949014384 | 997 | M>I | No | TOPMed | |
rs751871890 RCV000992631 |
999 | F>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM368000 | 1001 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4016804 rs376113551 COSM4016806 COSM4016805 |
1001 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs2137520716 | 1003 | L>W | No | Ensembl | |
rs756013871 | 1004 | E>D | No |
ExAC gnomAD |
|
rs1816047274 | 1004 | E>K | No |
TOPMed gnomAD |
|
rs2050687979 | 1005 | L>F | No | gnomAD | |
COSM6130794 COSM6130792 COSM6130791 COSM6130793 |
1005 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1168087143 | 1008 | A>T | No | gnomAD | |
rs770758387 | 1009 | V>A | No |
ExAC gnomAD |
|
rs749025597 | 1009 | V>L | No |
ExAC TOPMed gnomAD |
|
rs749025597 | 1009 | V>M | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1011 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs199673510 | 1011 | K>R | No | gnomAD | |
rs1395362832 | 1015 | F>S | No | gnomAD | |
rs1327100233 | 1016 | P>A | No | gnomAD | |
rs1220705180 | 1017 | D>N | No | gnomAD | |
rs1276478450 | 1019 | R>K | No | gnomAD | |
COSM1287207 COSM1287208 COSM1287206 |
1021 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs776237015 | 1024 | R>G | No |
ExAC gnomAD |
|
COSM1659515 rs762313611 |
1024 | R>Q | kidney [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs776237015 | 1024 | R>W | No |
ExAC gnomAD |
|
rs770196468 | 1026 | Q>* | No |
ExAC gnomAD |
|
rs770196468 | 1026 | Q>E | No |
ExAC gnomAD |
|
rs2137522174 | 1026 | Q>H | No | Ensembl | |
rs201933093 | 1028 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
rs2050690720 | 1031 | Y>C | No | gnomAD | |
rs766883789 | 1032 | Q>* | No |
ExAC TOPMed gnomAD |
|
rs768254310 RCV001580285 |
1034 | D>G | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746486644 | 1034 | D>N | No |
ExAC gnomAD |
|
rs773553954 | 1036 | R>P | No |
ExAC TOPMed gnomAD |
|
rs773553954 | 1036 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs1031828990 | 1036 | R>W | No |
TOPMed gnomAD |
|
rs771364821 | 1037 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs771364821 | 1037 | Y>F | No |
ExAC TOPMed gnomAD |
|
rs1245539376 | 1037 | Y>H | No | gnomAD | |
TCGA novel | 1039 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs767622781 | 1042 | L>V | No |
ExAC gnomAD |
|
rs775833869 | 1044 | H>Y | No |
ExAC TOPMed |
|
rs200419008 | 1045 | A>T | No |
ExAC TOPMed gnomAD |
|
rs2137624990 | 1046 | V>M | No | Ensembl | |
rs750212847 | 1051 | G>D | No |
ExAC gnomAD |
|
rs764944510 | 1051 | G>S | No |
ExAC gnomAD |
|
rs375633926 COSM1220930 |
1053 | R>Q | large_intestine [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs779549576 | 1053 | R>W | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1054 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1252384003 | 1055 | S>G | No | gnomAD | |
rs1437816828 | 1057 | R>* | No | gnomAD | |
COSM1970401 COSM1970400 rs754397478 COSM1970402 |
1057 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
COSM3791044 COSM3791045 rs780768832 COSM3791043 |
1059 | P>R | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs1589422307 | 1060 | S>R | No | Ensembl | |
rs1183631930 | 1061 | P>T | No | gnomAD | |
rs775057970 | 1064 | S>L | No |
ExAC TOPMed gnomAD |
|
rs1299156613 | 1065 | A>G | No | gnomAD | |
rs746217285 | 1066 | K>E | No |
ExAC TOPMed gnomAD |
|
rs201554414 | 1066 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
rs530440610 | 1071 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1233760819 | 1071 | P>L | No | Ensembl | |
rs530440610 | 1071 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs199555701 | 1072 | N>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs564249217 | 1072 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs761945688 | 1073 | M>V | No |
ExAC gnomAD |
|
rs1259830097 | 1075 | R>K | No | gnomAD | |
rs2050912107 | 1077 | N>D | No | Ensembl | |
rs533132260 | 1077 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1014273898 | 1078 | T>A | No |
TOPMed gnomAD |
|
rs762697292 | 1078 | T>N | No |
ExAC gnomAD |
|
rs1024281662 | 1080 | G>A | No |
TOPMed gnomAD |
|
rs1024281662 | 1080 | G>D | No |
TOPMed gnomAD |
|
rs1423525893 | 1081 | I>K | No | gnomAD | |
rs751116995 | 1081 | I>V | No |
ExAC gnomAD |
|
rs1402922181 | 1084 | T>I | No | gnomAD | |
TCGA novel | 1085 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1464344672 | 1086 | K>R | No | gnomAD | |
rs754664492 | 1087 | K>N | No |
ExAC TOPMed gnomAD |
|
rs2050913614 | 1087 | K>R | No | Ensembl | |
rs780778339 | 1088 | K>E | No |
ExAC gnomAD |
|
rs752243865 | 1088 | K>R | No | ExAC | |
rs1394137090 | 1089 | K>E | No |
TOPMed gnomAD |
|
rs755738108 | 1089 | K>N | No |
ExAC gnomAD |
|
rs929071659 | 1090 | I>L | No | Ensembl | |
rs929071659 | 1090 | I>V | No | Ensembl | |
rs1281983846 | 1091 | L>F | No | gnomAD | |
rs2050914456 | 1091 | L>P | No | TOPMed | |
rs374934241 | 1092 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
rs746405415 | 1093 | R>K | No |
ExAC gnomAD |
|
rs746405415 | 1093 | R>T | No |
ExAC gnomAD |
|
rs956275597 | 1094 | G>C | No |
TOPMed gnomAD |
|
TCGA novel | 1095 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1564832268 | 1096 | S>N | No | Ensembl | |
rs577187940 | 1098 | E>A | No |
1000Genomes ExAC gnomAD |
|
rs769807716 | 1099 | V>E | No |
ExAC TOPMed gnomAD |
|
rs769807716 | 1099 | V>G | No |
ExAC TOPMed gnomAD |
|
rs2050983118 | 1099 | V>L | No | TOPMed | |
rs954154818 | 1100 | T>I | No |
TOPMed gnomAD |
|
COSM4016809 COSM4016808 COSM4016807 rs763011760 |
1102 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs763011760 | 1102 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs770891858 | 1104 | M>T | No |
ExAC TOPMed gnomAD |
|
rs2132854636 | 1105 | A>E | No | Ensembl | |
rs2050984292 | 1106 | T>A | No | TOPMed | |
rs774206142 | 1107 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs759348587 | 1109 | A>S | No |
ExAC TOPMed gnomAD |
|
rs759348587 | 1109 | A>T | No |
ExAC TOPMed gnomAD |
|
rs767455902 | 1111 | M>T | No |
ExAC TOPMed gnomAD |
|
rs2050985080 | 1112 | H>Q | No | Ensembl | |
COSM1474886 COSM5200026 rs1440919623 COSM1474885 COSM428166 |
1114 | E>D | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs533569760 | 1114 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs533569760 | 1114 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2132855108 | 1115 | C>F | No | Ensembl | |
rs121912602 | 1116 | R>G | Nephrotic syndrome, type 3 (nphs3) [Ensembl] | No |
ExAC TOPMed gnomAD |
rs201350449 | 1116 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs201350449 | 1116 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs772363295 | 1118 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs756774063 | 1118 | R>W | No |
ExAC TOPMed gnomAD |
|
rs752045984 | 1119 | S>N | No |
ExAC gnomAD |
|
rs372493357 | 1120 | G>D | No |
ExAC TOPMed gnomAD |
|
rs372493357 | 1120 | G>V | No |
ExAC TOPMed gnomAD |
|
rs781551456 | 1122 | D>G | No |
ExAC TOPMed gnomAD |
|
rs1331510718 | 1123 | P>H | No | Ensembl | |
rs748303342 | 1124 | Q>P | No |
ExAC TOPMed gnomAD |
|
rs748303342 | 1124 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs867256208 | 1125 | D>N | No |
TOPMed gnomAD |
|
rs867256208 | 1125 | D>Y | No |
TOPMed gnomAD |
|
rs377402718 | 1126 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1130 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1173569661 | 1130 | E>G | No |
TOPMed gnomAD |
|
rs2050987713 | 1130 | E>Q | No | TOPMed | |
rs752056387 | 1133 | E>A | No |
ExAC TOPMed gnomAD |
|
rs752056387 | 1133 | E>G | No |
ExAC TOPMed gnomAD |
|
rs1440143492 | 1134 | V>G | No | gnomAD | |
rs755481126 | 1134 | V>M | No |
ExAC TOPMed gnomAD |
|
rs2132865347 | 1136 | A>T | No | Ensembl | |
rs2051011476 | 1136 | A>V | No | Ensembl | |
rs2051011643 | 1137 | I>V | No | gnomAD | |
rs753048370 COSM1585228 COSM1585229 COSM921657 |
1138 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1367424901 | 1139 | N>K | No |
TOPMed gnomAD |
|
rs2051012507 | 1140 | P>L | No | TOPMed | |
rs745848489 | 1140 | P>S | No |
TOPMed gnomAD |
|
rs745848489 | 1140 | P>T | No |
TOPMed gnomAD |
|
rs756521986 | 1142 | N>K | No |
ExAC TOPMed gnomAD |
|
rs2051012911 | 1143 | P>L | No | TOPMed | |
rs1317856330 | 1144 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs757315158 | 1147 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1304457385 | 1147 | R>K | No | gnomAD | |
rs2051013866 | 1148 | R>G | No | TOPMed | |
rs1372617995 | 1151 | S>C | No | TOPMed | |
rs1394322207 | 1151 | S>P | No | gnomAD | |
TCGA novel | 1151 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM4016810 COSM4016811 COSM4016812 |
1152 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs745747725 | 1153 | T>I | No |
ExAC TOPMed gnomAD |
|
rs745747725 | 1153 | T>N | No |
ExAC TOPMed gnomAD |
|
rs371294665 | 1155 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
rs371294665 | 1155 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs539061909 | 1156 | G>A | No |
TOPMed gnomAD |
|
rs539061909 | 1156 | G>V | No |
TOPMed gnomAD |
|
rs768610934 | 1157 | S>F | No |
ExAC gnomAD |
|
rs1234627666 | 1158 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs776306167 | 1159 | N>S | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1161 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs761394585 | 1162 | A>S | No |
ExAC gnomAD |
|
COSM1349934 COSM1349932 COSM5140961 COSM1349933 |
1162 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs578176464 | 1163 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM3441826 COSM3441825 COSM3441827 |
1167 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1178176115 | 1168 | I>F | No | gnomAD | |
rs753244923 | 1169 | R>S | No |
ExAC TOPMed gnomAD |
|
rs760990876 | 1170 | P>L | No |
ExAC gnomAD |
|
rs757421093 | 1171 | V>A | No |
ExAC TOPMed gnomAD |
|
rs1296521084 | 1172 | S>F | No | gnomAD | |
rs2051018900 | 1172 | S>T | No | gnomAD | |
rs746745562 | 1172 | S>V | No | ExAC | |
rs1387669948 | 1174 | P>A | No |
TOPMed gnomAD |
|
rs2051019940 | 1174 | P>L | No | TOPMed | |
rs1387669948 | 1174 | P>S | No |
TOPMed gnomAD |
|
rs750514109 | 1175 | V>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2051020492 | 1177 | S>A | No | TOPMed | |
rs2051020849 | 1179 | S>L | No | TOPMed | |
rs758597789 | 1180 | N>K | No |
ExAC gnomAD |
|
rs367778209 | 1184 | S>C | No |
ESP ExAC TOPMed gnomAD |
|
rs1167101726 | 1186 | A>S | No | gnomAD | |
rs1348516267 | 1186 | A>V | No | gnomAD | |
rs200141684 | 1189 | S>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs769027296 | 1190 | S>G | No |
ExAC TOPMed gnomAD |
|
COSM269898 | 1192 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs762050661 | 1194 | G>R | No |
ExAC TOPMed gnomAD |
|
rs763280408 | 1195 | R>Q | No |
ExAC gnomAD |
|
rs370773518 | 1199 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
rs767328344 | 1200 | M>L | No |
ExAC TOPMed gnomAD |
|
rs767328344 | 1200 | M>V | No |
ExAC TOPMed gnomAD |
|
rs752714644 | 1202 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs777562042 | 1207 | M>V | No |
ExAC gnomAD |
|
rs2051195027 | 1208 | V>A | No | TOPMed | |
rs2051194926 TCGA novel |
1208 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
COSM1133919 COSM5201794 COSM5201795 COSM428167 |
1210 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs756895101 | 1210 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
COSM6067180 COSM6067181 COSM6067183 COSM6067182 |
1211 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1201260365 | 1212 | N>S | No | gnomAD | |
rs778591304 | 1215 | F>Y | No |
ExAC TOPMed gnomAD |
|
rs745345130 | 1216 | V>F | No |
ExAC gnomAD |
|
rs745345130 | 1216 | V>I | No |
ExAC gnomAD |
|
TCGA novel | 1217 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1218 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1220 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1224 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs866394425 | 1226 | S>G | No | gnomAD | |
rs1338175454 | 1230 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
COSM1474889 COSM5226868 COSM1474890 rs2051200242 COSM1474891 |
1230 | R>H | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs2051200242 | 1230 | R>L | No | Ensembl | |
rs2051200428 | 1231 | K>N | No | gnomAD | |
rs778503393 | 1231 | K>R | No |
ExAC gnomAD |
|
rs757795778 | 1235 | D>E | No |
ExAC TOPMed gnomAD |
|
rs2051200874 | 1235 | D>V | No | gnomAD | |
rs1564837390 | 1238 | D>G | No | Ensembl | |
TCGA novel | 1238 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1238 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs779628620 | 1239 | V>I | No |
ExAC TOPMed gnomAD |
|
rs935673723 | 1240 | Y>H | No |
TOPMed gnomAD |
|
TCGA novel | 1241 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs770420406 | 1242 | V>A | No |
ExAC TOPMed gnomAD |
|
rs1226061657 | 1243 | P>A | No | TOPMed | |
rs267606955 | 1246 | R>G | Nephrotic syndrome, type 3 (nphs3) [Ensembl] | No |
ExAC TOPMed gnomAD |
rs374570009 | 1246 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs374570009 | 1246 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
rs374570009 COSM921660 COSM4651062 COSM1585222 COSM1585223 |
1246 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs759820322 | 1247 | S>C | No |
ExAC TOPMed gnomAD |
|
rs759820322 | 1247 | S>F | No |
ExAC TOPMed gnomAD |
|
rs866284212 | 1249 | S>F | No | Ensembl | |
COSM5469460 COSM5469463 COSM5469461 rs775639600 COSM5469462 |
1250 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs2051203070 | 1253 | P>A | No | Ensembl | |
rs760720254 | 1256 | T>A | No |
ExAC TOPMed gnomAD |
|
COSM3441830 COSM3441828 COSM3441829 |
1256 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs760720254 | 1256 | T>P | No |
ExAC TOPMed gnomAD |
|
rs1296627391 | 1257 | N>S | No |
TOPMed gnomAD |
|
rs2051203902 | 1258 | L>P | No | TOPMed | |
rs1351334345 | 1260 | I>T | No |
TOPMed gnomAD |
|
rs1434225252 | 1261 | D>E | No | gnomAD | |
rs753816984 | 1262 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1241012234 | 1264 | T>N | No | gnomAD | |
rs1432013966 | 1265 | S>T | No | gnomAD | |
rs2051205002 | 1266 | D>G | No | Ensembl | |
COSM3441833 rs2051204883 COSM3441831 COSM3441832 |
1266 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
COSM1349943 COSM1349945 COSM1349944 COSM5131288 |
1266 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1476945487 | 1269 | P>T | No | TOPMed | |
rs1348884857 | 1270 | D>N | No |
TOPMed gnomAD |
|
rs749988048 | 1271 | L>V | No |
ExAC gnomAD |
|
rs766023332 | 1273 | L>P | No |
ExAC gnomAD |
|
rs751200886 | 1277 | N>S | No |
ExAC gnomAD |
|
rs1340734586 | 1278 | V>A | No |
TOPMed gnomAD |
|
TCGA novel | 1278 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs754487813 | 1278 | V>I | No |
ExAC gnomAD |
|
rs575762810 | 1279 | S>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs757831852 | 1280 | D>N | No |
ExAC gnomAD |
|
rs757831852 | 1280 | D>Y | No |
ExAC gnomAD |
|
rs746226079 | 1281 | L>F | No |
ExAC TOPMed gnomAD |
|
rs779342517 | 1281 | L>S | No |
ExAC gnomAD |
|
rs1564840438 | 1282 | G>R | No | Ensembl | |
rs780286250 | 1285 | I>F | No |
ExAC TOPMed gnomAD |
|
rs780286250 | 1285 | I>L | No |
ExAC TOPMed gnomAD |
|
COSM5192321 COSM5192322 COSM1133920 |
1285 | I>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs747256450 | 1286 | K>E | No |
ExAC gnomAD |
|
rs2051338373 | 1286 | K>N | No | Ensembl | |
rs200409656 | 1286 | K>R | No | TOPMed | |
rs2051338473 | 1287 | S>R | No | TOPMed | |
rs1318965929 | 1288 | K>T | No | gnomAD | |
rs776697711 | 1290 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs768666755 | 1290 | Q>L | No |
ExAC gnomAD |
|
rs1407013393 | 1292 | S>* | No | TOPMed | |
rs1407013393 COSM1220936 |
1292 | S>L | large_intestine [Cosmic] | No |
cosmic curated TOPMed |
rs1283124862 | 1292 | S>P | No | Ensembl | |
rs201423664 | 1293 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1294 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1391588139 | 1294 | N>Y | No | TOPMed | |
rs1186700450 | 1295 | Q>R | No | gnomAD | |
rs773062926 | 1296 | R>K | No |
ExAC gnomAD |
|
rs2051340221 | 1298 | I>M | No | TOPMed | |
rs762769053 | 1298 | I>V | No |
ExAC TOPMed gnomAD |
|
rs267602625 | 1299 | S>F | No | Ensembl | |
rs2051340438 | 1303 | A>G | No | Ensembl | |
rs942852147 | 1304 | A>V | No | TOPMed | |
rs2051340631 | 1307 | I>V | No | Ensembl | |
rs2051340779 | 1309 | T>R | No | TOPMed | |
rs766108640 | 1312 | T>S | No | ExAC | |
rs774088194 | 1314 | I>M | No |
ExAC TOPMed gnomAD |
|
rs1372474008 | 1314 | I>V | No |
TOPMed gnomAD |
|
rs767341790 | 1315 | E>D | No |
ExAC TOPMed gnomAD |
|
rs759264327 | 1315 | E>K | No |
ExAC gnomAD |
|
rs752237635 | 1317 | T>I | No |
ExAC TOPMed gnomAD |
|
rs1344374749 | 1318 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs765748194 | 1319 | L>P | No |
ExAC gnomAD |
|
TCGA novel | 1319 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1299346018 | 1322 | F>L | No |
TOPMed gnomAD |
|
rs1384312021 | 1322 | F>Y | No | gnomAD | |
rs1368657323 | 1323 | G>E | No | TOPMed | |
rs758743699 | 1324 | V>A | No |
ExAC gnomAD |
|
rs867372355 COSM1133326 |
1325 | G>D | kidney [Cosmic] | No |
cosmic curated Ensembl |
rs1438360400 | 1325 | G>S | No |
TOPMed gnomAD |
|
rs780298176 | 1326 | I>K | No |
ExAC gnomAD |
|
rs2051343281 | 1326 | I>V | No | Ensembl | |
rs747170266 | 1327 | L>F | No |
ExAC gnomAD |
|
rs1209743554 | 1328 | Q>E | No | gnomAD | |
rs887784910 | 1328 | Q>R | No | Ensembl | |
rs755190924 | 1330 | N>D | No |
ExAC gnomAD |
|
COSM921661 COSM1585220 COSM1585221 |
1331 | D>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs372685240 | 1331 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs773151394 | 1333 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1200839708 | 1333 | L>P | No | gnomAD | |
rs61886335 | 1334 | V>L | No |
ExAC TOPMed gnomAD |
|
rs61886335 | 1334 | V>M | No |
ExAC TOPMed gnomAD |
|
rs1748430092 | 1335 | N>I | No | 1000Genomes | |
rs997620952 | 1336 | C>Y | No | TOPMed | |
rs759458474 | 1341 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs759458474 | 1341 | C>Y | No |
ExAC gnomAD |
|
rs767251854 | 1342 | T>A | No |
ExAC gnomAD |
|
rs1425436432 | 1342 | T>I | No | TOPMed | |
TCGA novel | 1342 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs763537813 | 1343 | Y>* | No |
ExAC TOPMed gnomAD |
|
rs775326157 | 1343 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs775326157 COSM1187996 |
1343 | Y>F | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
COSM4901808 COSM4901807 COSM4901806 COSM4901805 |
1345 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2051345948 | 1348 | S>N | No |
TOPMed gnomAD |
|
rs1232980375 | 1350 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
TCGA novel | 1351 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2133063867 | 1352 | K>E | No | Ensembl | |
rs2133063900 | 1352 | K>N | No | Ensembl | |
rs61751499 | 1353 | F>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2051487896 | 1353 | F>L | No | Ensembl | |
rs2133063965 | 1353 | F>S | No | Ensembl | |
COSM1152218 | 1354 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1564843295 COSM1474892 |
1354 | E>K | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA gnomAD |
rs1243745506 | 1355 | P>T | No |
TOPMed gnomAD |
|
rs2051488992 | 1356 | S>I | No | TOPMed | |
rs1318388132 | 1357 | I>F | No | Ensembl | |
rs1221670185 | 1357 | I>M | No | Ensembl | |
rs1279990462 | 1357 | I>T | No | Ensembl | |
rs1589442441 | 1359 | M>K | No | Ensembl | |
rs1366282160 | 1362 | Q>E | No |
TOPMed gnomAD |
|
rs2051489731 | 1363 | G>E | No | Ensembl | |
rs761445364 | 1366 | S>P | No |
ExAC TOPMed gnomAD |
|
rs752101948 | 1367 | F>I | No |
ExAC gnomAD |
|
rs2051490160 | 1367 | F>L | No | TOPMed | |
rs532167723 | 1368 | E>D | No |
1000Genomes ExAC gnomAD |
|
rs1424595212 | 1368 | E>K | No | gnomAD | |
rs1424595212 | 1368 | E>Q | No | gnomAD | |
rs369676435 | 1371 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1380 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1255871441 | 1381 | A>P | No | gnomAD | |
rs2051494450 | 1383 | K>E | No | Ensembl | |
COSM4715081 COSM4715080 COSM4715082 rs1564843502 COSM4715079 |
1384 | N>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
rs771937306 | 1385 | D>G | No |
ExAC TOPMed gnomAD |
|
rs1193007439 | 1385 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs373593323 | 1386 | E>A | No |
ESP ExAC TOPMed gnomAD |
|
rs373593323 | 1386 | E>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1232485824 | 1391 | I>V | No | TOPMed | |
rs2051495488 | 1393 | E>D | No | TOPMed | |
rs2133066319 | 1393 | E>K | No | Ensembl | |
rs1359169206 | 1397 | P>S | No | gnomAD | |
RCV001385982 rs750815297 |
1398 | L>missing | No |
ClinVar dbSNP |
|
rs765106847 | 1400 | Y>C | No |
TOPMed gnomAD |
|
rs765106847 | 1400 | Y>F | No |
TOPMed gnomAD |
|
rs1400427421 | 1401 | Y>C | No | gnomAD | |
rs2051496689 | 1401 | Y>H | No | Ensembl | |
rs1020324868 | 1403 | I>V | No | Ensembl | |
rs1213917729 | 1404 | E>G | No |
TOPMed gnomAD |
|
rs575613361 | 1404 | E>K | No |
TOPMed gnomAD |
|
rs1294951284 | 1406 | S>L | No | gnomAD | |
rs761198488 | 1407 | H>D | No |
ExAC TOPMed gnomAD |
|
rs2051497777 | 1407 | H>P | No | Ensembl | |
rs761198488 | 1407 | H>Y | No |
ExAC TOPMed gnomAD |
|
rs769314870 | 1411 | L>R | No |
ExAC gnomAD |
|
rs376243775 COSM1220942 |
1412 | T>M | large_intestine [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs1013956708 | 1413 | G>A | No |
TOPMed gnomAD |
|
rs1395184523 | 1414 | H>Y | No | gnomAD | |
COSM1349948 COSM5156116 COSM1349947 COSM1349946 |
1416 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs768077598 | 1417 | K>Q | No |
ExAC gnomAD |
|
COSM3868104 rs370622297 COSM3868103 COSM3868102 |
1418 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1408950534 | 1419 | E>G | No |
TOPMed gnomAD |
|
COSM4830038 COSM4830037 COSM4830039 COSM4830036 |
1419 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1585218 COSM1585219 rs761148662 COSM921663 |
1421 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1564843738 | 1424 | L>F | No | Ensembl | |
rs754117196 | 1427 | Q>P | No |
ExAC TOPMed gnomAD |
|
rs754117196 | 1427 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs776101909 | 1429 | L>V | No |
ExAC gnomAD |
|
rs760903665 | 1430 | L>* | No |
ExAC TOPMed gnomAD |
|
rs760903665 | 1430 | L>S | No |
ExAC TOPMed gnomAD |
|
rs764545119 | 1433 | C>R | No |
ExAC gnomAD |
|
rs776663468 | 1433 | C>S | No |
ExAC TOPMed gnomAD |
|
rs776663468 | 1433 | C>Y | No |
ExAC TOPMed gnomAD |
|
rs1274185689 | 1434 | R>* | No | gnomAD | |
COSM1220943 COSM1349949 COSM5826853 COSM1220944 |
1434 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs765625216 | 1436 | V>I | No |
ExAC gnomAD |
|
rs2051614417 | 1437 | E>A | No | TOPMed | |
TCGA novel | 1440 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1251852335 | 1441 | W>* | No | gnomAD | |
rs1183306182 | 1443 | G>R | No |
TOPMed gnomAD |
|
rs2133103739 | 1443 | G>V | No | Ensembl | |
rs1423447994 | 1445 | D>G | No |
TOPMed gnomAD |
|
COSM1349951 COSM1349952 COSM1349950 COSM5100918 |
1445 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs368429183 | 1445 | D>Y | No |
ESP TOPMed |
|
TCGA novel | 1447 | M>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1469293582 | 1447 | M>K | No | gnomAD | |
TCGA novel | 1447 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs754671370 | 1449 | I>V | No |
ExAC gnomAD |
|
rs2051616208 | 1452 | H>Y | No | gnomAD | |
rs983730547 | 1453 | G>E | No |
TOPMed gnomAD |
|
rs1164068178 | 1455 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1164068178 | 1455 | T>R | No |
TOPMed gnomAD |
|
rs1589446823 | 1456 | L>R | No | Ensembl | |
rs866629033 | 1457 | T>I | No | Ensembl | |
rs866629033 | 1457 | T>K | No | Ensembl | |
rs1392078248 | 1458 | T>A | No | gnomAD | |
rs1330951857 | 1458 | T>N | No | gnomAD | |
COSM3441841 COSM3441840 COSM3441842 |
1461 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2051617972 | 1463 | K>E | No | Ensembl | |
rs2051687357 | 1464 | E>A | No | Ensembl | |
rs767410318 | 1466 | V>F | No |
ExAC gnomAD |
|
rs767410318 | 1466 | V>I | No |
ExAC gnomAD |
|
rs767410318 | 1466 | V>L | No |
ExAC gnomAD |
|
rs1589449171 | 1467 | E>K | No | Ensembl | |
rs2051688064 | 1468 | A>D | No | Ensembl | |
rs752465893 | 1469 | I>T | No |
ExAC TOPMed gnomAD |
|
rs1009208215 | 1469 | I>V | No |
TOPMed gnomAD |
|
rs1589449189 | 1470 | D>Y | No | TOPMed | |
rs778433836 | 1471 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs199793703 | 1471 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 1472 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2051688967 | 1473 | A>* | No | TOPMed | |
rs2051689215 | 1473 | A>D | No |
TOPMed gnomAD |
|
rs1589449211 | 1473 | A>P | No | Ensembl | |
rs1190870060 | 1475 | I>M | No |
TOPMed gnomAD |
|
rs1430243872 | 1475 | I>V | No | gnomAD | |
rs560712395 | 1476 | N>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs560712395 | 1476 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs560712395 | 1476 | N>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2051689915 | 1477 | S>C | No | TOPMed | |
rs745439074 | 1478 | D>A | No |
ExAC gnomAD |
|
rs769196439 | 1478 | D>E | No |
ExAC TOPMed gnomAD |
|
rs991464575 | 1480 | P>Q | No | Ensembl | |
rs529475564 | 1481 | I>V | No |
1000Genomes TOPMed gnomAD |
|
TCGA novel | 1482 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1393795942 | 1485 | I>V | No | TOPMed | |
TCGA novel | 1487 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs770314103 | 1489 | C>R | No |
ExAC gnomAD |
|
COSM1585215 COSM921665 COSM1585214 |
1490 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2051691492 | 1493 | Q>E | No | Ensembl | |
COSM5371362 COSM139850 COSM1722506 rs771124727 COSM222187 |
1495 | R>Q | NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs759582192 | 1497 | M>I | No |
ExAC gnomAD |
|
rs774474634 | 1497 | M>V | No |
ExAC gnomAD |
|
TCGA novel | 1497 | M>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1585212 COSM1585213 COSM921666 |
1499 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1345378487 | 1500 | I>M | No | gnomAD | |
rs1233025723 | 1501 | F>C | No | gnomAD | |
COSM5228116 COSM1474895 COSM1474894 COSM428171 |
1502 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1159598158 | 1514 | L>I | No | TOPMed | |
rs2051830475 | 1516 | E>G | No |
TOPMed gnomAD |
|
TCGA novel | 1518 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1585210 COSM1585211 COSM921667 |
1519 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs931524881 | 1519 | F>Y | No |
TOPMed gnomAD |
|
rs772160156 | 1520 | S>A | No |
ExAC gnomAD |
|
rs775344945 | 1520 | S>L | No |
ExAC gnomAD |
|
rs772160156 | 1520 | S>P | No |
ExAC gnomAD |
|
rs760606863 | 1521 | D>G | No |
ExAC gnomAD |
|
rs1182368388 | 1522 | D>N | No |
TOPMed gnomAD |
|
rs865837779 | 1523 | P>L | No | Ensembl | |
rs2051831551 | 1523 | P>S | No | Ensembl | |
rs764087748 | 1524 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
COSM5158843 COSM1349956 COSM1349958 COSM1349957 |
1526 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs776401726 | 1526 | P>S | No |
ExAC gnomAD |
|
rs761566268 | 1527 | S>P | No |
ExAC TOPMed gnomAD |
|
COSM1152219 rs2051832384 |
1528 | P>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs2051832384 | 1528 | P>R | No | TOPMed | |
rs1389250936 | 1528 | P>S | No |
TOPMed gnomAD |
|
rs1355796898 | 1529 | D>E | No |
TOPMed gnomAD |
|
RCV000519966 CA5613173 rs182314619 |
1529 | D>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1235091819 | 1531 | L>V | No | gnomAD | |
TCGA novel | 1533 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1485358230 | 1536 | L>I | No |
TOPMed gnomAD |
|
rs750075391 | 1536 | L>P | No |
ExAC gnomAD |
|
TCGA novel | 1536 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2051833352 | 1537 | L>F | No | Ensembl | |
TCGA novel | 1540 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs757878108 | 1540 | K>R | No |
ExAC TOPMed gnomAD |
|
rs1331277852 | 1541 | K>N | No | Ensembl | |
rs766002774 | 1542 | L>I | No |
ExAC TOPMed gnomAD |
|
rs766002774 | 1542 | L>V | No |
ExAC TOPMed gnomAD |
|
rs1261632735 | 1545 | H>L | No |
TOPMed gnomAD |
|
rs751180713 | 1546 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs2051834185 | 1546 | Q>H | No | TOPMed | |
rs768854393 | 1547 | T>M | No |
ExAC TOPMed gnomAD |
|
rs1475718709 | 1549 | V>E | No | gnomAD | |
rs2051834619 | 1549 | V>M | No | gnomAD | |
rs376222459 | 1550 | D>Y | No |
ESP ExAC TOPMed gnomAD |
|
rs757589468 | 1554 | Q>K | No |
ExAC gnomAD |
|
rs2133172714 | 1555 | K>N | No | Ensembl | |
rs757579659 | 1556 | A>P | No |
ExAC gnomAD |
|
rs757579659 | 1556 | A>S | No |
ExAC gnomAD |
|
rs757579659 | 1556 | A>T | No |
ExAC gnomAD |
|
rs1358302667 | 1556 | A>V | No | gnomAD | |
COSM686035 COSM1146523 COSM1646358 |
1558 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs758609545 | 1560 | A>V | No |
ExAC gnomAD |
|
COSM3415374 COSM3415375 COSM3415376 COSM5078857 |
1561 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1391076246 | 1562 | M>T | No | TOPMed | |
rs2133254310 | 1564 | V>A | No | Ensembl | |
rs780305452 | 1564 | V>M | No |
ExAC TOPMed gnomAD |
|
TCGA novel rs768754811 |
1565 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
rs1265008421 | 1566 | A>S | No | TOPMed | |
rs2052128193 | 1567 | Y>* | No | TOPMed | |
rs1348871494 | 1569 | G>C | No | gnomAD | |
rs897492037 | 1569 | G>D | No | TOPMed | |
rs748050550 | 1570 | G>R | No |
ExAC gnomAD |
|
TCGA novel rs1589464286 |
1571 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs769566656 | 1572 | A>P | No |
ExAC gnomAD |
|
rs865781686 | 1572 | A>V | No | Ensembl | |
rs762889107 | 1573 | N>K | No |
ExAC TOPMed gnomAD |
|
rs772868962 | 1573 | N>T | No |
ExAC gnomAD |
|
rs1187459288 | 1574 | P>A | No |
TOPMed gnomAD |
|
rs1187459288 | 1574 | P>S | No |
TOPMed gnomAD |
|
rs2274224 | 1575 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs765834047 | 1576 | P>S | No |
ExAC gnomAD |
|
rs2052131388 | 1577 | A>D | No | Ensembl | |
rs1216357274 | 1577 | A>T | No | Ensembl | |
TCGA novel | 1580 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1023411023 | 1582 | E>D | No | Ensembl | |
COSM6130785 COSM6130783 COSM6130784 COSM6130786 |
1586 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4016823 COSM4016824 rs1282534937 COSM4016822 |
1588 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
TCGA novel | 1588 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1024165268 | 1593 | Y>C | No | TOPMed | |
rs1319983314 | 1596 | L>P | No | gnomAD | |
rs1443119002 | 1599 | D>E | No |
TOPMed gnomAD |
|
rs1281653799 | 1600 | N>D | No | gnomAD | |
rs2052337127 | 1600 | N>K | No | TOPMed | |
rs1228355324 | 1603 | E>A | No | gnomAD | |
rs750964111 | 1604 | D>E | No |
ExAC gnomAD |
|
rs765634224 COSM1603870 |
1604 | D>H | liver [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs1207616254 | 1605 | R>G | No | gnomAD | |
rs1443540342 | 1608 | N>S | No | gnomAD | |
rs1288527473 | 1609 | K>N | No |
TOPMed gnomAD |
|
COSM4715085 COSM4715084 COSM4715083 COSM4715086 |
1610 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1014863355 | 1611 | C>* | No |
TOPMed gnomAD |
|
rs1438056519 | 1611 | C>R | No | gnomAD | |
rs1564860133 | 1611 | C>Y | No | gnomAD | |
rs371524257 | 1615 | L>F | No |
ESP TOPMed gnomAD |
|
rs371524257 | 1615 | L>I | No |
ESP TOPMed gnomAD |
|
rs763255266 | 1616 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs766744123 | 1617 | F>L | No |
ExAC gnomAD |
|
rs1188868783 | 1618 | E>D | No | TOPMed | |
rs2052339052 | 1619 | Y>C | No | gnomAD | |
rs1420005853 | 1623 | I>V | No | gnomAD | |
rs1471766120 | 1626 | R>K | No |
TOPMed gnomAD |
|
rs1471766120 | 1626 | R>M | No |
TOPMed gnomAD |
|
rs972762217 | 1627 | I>V | No | Ensembl | |
COSM921671 COSM1585207 rs988525181 COSM1585206 |
1628 | K>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs755152638 | 1630 | A>E | No |
ExAC gnomAD |
|
rs539090556 RCV000980308 |
1630 | A>T | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1294281128 | 1631 | D>G | No | gnomAD | |
COSM4844269 COSM4844266 COSM4844268 COSM4844267 |
1631 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1357989560 | 1633 | S>P | No | gnomAD | |
rs2052340787 | 1636 | N>H | No |
TOPMed gnomAD |
|
rs2052340882 | 1636 | N>S | No | TOPMed | |
rs1243172719 | 1637 | K>E | No | gnomAD | |
rs2052341081 | 1638 | G>V | No | Ensembl | |
rs1589475254 | 1640 | V>A | No | Ensembl | |
rs371691449 | 1640 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
rs371691449 | 1640 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs2052379194 | 1641 | Y>C | No | Ensembl | |
TCGA novel | 1644 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1341022209 | 1645 | L>P | No |
TOPMed gnomAD |
|
rs375092651 | 1645 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
rs759983858 | 1647 | E>D | No |
ExAC TOPMed gnomAD |
|
COSM3415377 COSM5825667 COSM3415378 COSM3415379 |
1648 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1238732808 | 1650 | Y>F | No |
TOPMed gnomAD |
|
rs2133337317 | 1650 | Y>H | No | Ensembl | |
rs1238732808 | 1650 | Y>S | No |
TOPMed gnomAD |
|
rs2052379881 | 1653 | Q>R | No | Ensembl | |
rs373844518 | 1654 | N>S | No |
ESP ExAC gnomAD |
|
COSM1970500 COSM1970501 rs2052380259 COSM1970502 |
1657 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
rs2052380526 | 1660 | Q>* | No | Ensembl | |
rs1448650125 | 1661 | I>V | No | gnomAD | |
rs1487080758 | 1662 | A>V | No | gnomAD | |
rs41291138 | 1663 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs41291138 | 1663 | P>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1664 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs756088601 | 1665 | L>F | No |
ExAC gnomAD |
|
rs1234317631 | 1667 | D>N | No |
TOPMed gnomAD |
|
COSM3441847 COSM329537 COSM3441846 |
1668 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2052381416 | 1669 | V>L | No | Ensembl | |
rs754034304 | 1672 | C>F | No |
ExAC gnomAD |
|
rs1172343524 | 1674 | A>P | No | gnomAD | |
rs2052381808 | 1676 | K>N | No | gnomAD | |
COSM1585205 COSM921672 COSM1585204 |
1676 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1386394599 | 1677 | F>I | No | gnomAD | |
TCGA novel | 1677 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1243136941 | 1678 | P>S | No |
TOPMed gnomAD |
|
rs1243136941 | 1678 | P>T | No |
TOPMed gnomAD |
|
rs2052708471 | 1679 | G>E | No |
TOPMed gnomAD |
|
rs200570410 | 1679 | G>R | No |
ExAC gnomAD |
|
rs757455360 | 1680 | L>R | No |
ExAC gnomAD |
|
rs753944067 | 1680 | L>V | No | ExAC | |
rs1479758750 | 1682 | T>I | No |
TOPMed gnomAD |
|
rs937542975 | 1685 | A>V | No | TOPMed | |
rs2052709328 | 1686 | S>F | No | TOPMed | |
rs2052709215 | 1686 | S>T | No | TOPMed | |
rs765229262 | 1688 | S>C | No |
ExAC gnomAD |
|
rs1335336022 | 1690 | R>K | No | gnomAD | |
rs1335336022 | 1690 | R>T | No | gnomAD | |
rs2052709838 TCGA novel |
1691 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs2133454288 | 1694 | R>K | No | Ensembl | |
rs1055957017 | 1697 | R>K | No | TOPMed | |
rs1267301603 | 1701 | F>L | No |
TOPMed gnomAD |
|
RCV001908295 rs2133454427 |
1701 | F>S | No |
ClinVar Ensembl dbSNP |
|
rs201633028 RCV002096149 |
1704 | N>S | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1251741271 | 1705 | P>A | No |
TOPMed gnomAD |
|
rs539813481 | 1705 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs539813481 | 1705 | P>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs754613559 | 1707 | R>G | No |
ExAC TOPMed gnomAD |
|
rs780873471 | 1707 | R>K | No |
ExAC TOPMed gnomAD |
|
rs2052711356 | 1708 | M>R | No | Ensembl | |
rs1378053673 | 1711 | G>E | No | TOPMed | |
rs1405270558 | 1711 | G>W | No | gnomAD | |
TCGA novel | 1712 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1333813518 | 1713 | T>I | No |
TOPMed gnomAD |
|
rs2052711841 | 1714 | A>T | No | TOPMed | |
TCGA novel | 1720 | S>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs929600820 | 1722 | K>Q | No | Ensembl | |
COSM4405486 COSM4405485 COSM4405484 |
1723 | S>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1038433250 | 1723 | S>N | No |
TOPMed gnomAD |
|
COSM921673 COSM1585202 COSM1585203 |
1723 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1723 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
RCV000722362 rs1564873908 |
1725 | C>missing | No |
ClinVar dbSNP |
|
rs780773220 | 1725 | C>F | No |
ExAC TOPMed gnomAD |
|
rs752359550 | 1725 | C>W | No |
ExAC TOPMed gnomAD |
|
COSM3868107 COSM3868106 COSM3868105 |
1727 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2052916640 TCGA novel |
1727 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2052916537 | 1727 | G>S | No | Ensembl | |
rs777329061 | 1729 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
COSM921674 COSM1585201 rs368531853 COSM1585200 |
1729 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1051743395 | 1730 | Q>E | No | Ensembl | |
rs1226440254 | 1731 | T>I | No | gnomAD | |
rs772606467 | 1732 | W>R | No |
ExAC TOPMed gnomAD |
|
rs2052917485 | 1733 | E>G | No | Ensembl | |
rs2052917389 | 1733 | E>K | No | TOPMed | |
rs267602626 | 1734 | E>* | No | gnomAD | |
rs267602626 | 1734 | E>K | No | gnomAD | |
rs1236250466 | 1734 | E>V | No | gnomAD | |
COSM1474897 COSM428172 COSM1474896 COSM5227757 |
1735 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs769168756 | 1736 | S>A | No |
ExAC gnomAD |
|
rs1249334030 | 1736 | S>F | No | gnomAD | |
RCV000912809 rs762135003 |
1737 | S>F | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs891372245 | 1738 | P>A | No |
TOPMed gnomAD |
|
rs770207968 | 1738 | P>R | No |
ExAC gnomAD |
|
COSM3441853 COSM3441852 COSM3441851 |
1738 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1173624921 | 1739 | L>F | No | gnomAD | |
rs112359735 | 1742 | T>A | No | Ensembl | |
rs1179835431 | 1742 | T>I | No | TOPMed | |
rs117545428 | 1743 | T>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1367411406 | 1744 | S>Y | No | gnomAD | |
rs1433215737 | 1745 | L>F | No | gnomAD | |
rs1185378074 | 1747 | A>G | No |
TOPMed gnomAD |
|
rs1185378074 | 1747 | A>V | No |
TOPMed gnomAD |
|
rs1297178595 | 1748 | I>S | No | gnomAD | |
rs2052920557 | 1751 | T>I | No | Ensembl | |
rs2052920754 COSM1220938 |
1753 | K>R | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
rs2052920838 | 1754 | C>Y | No | Ensembl | |
COSM3808049 COSM1220945 COSM1220946 COSM5831617 |
1756 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs371506038 | 1756 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
rs759267806 | 1759 | S>L | No |
ExAC gnomAD |
|
rs1228062735 | 1763 | N>I | No |
TOPMed gnomAD |
|
rs544095097 | 1764 | A>S | No |
1000Genomes ExAC gnomAD |
|
rs563882342 | 1765 | A>T | No |
1000Genomes ExAC gnomAD |
|
rs2133536861 | 1767 | R>C | No | 1000Genomes | |
rs373607060 | 1767 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
COSM3738793 rs747535637 |
1770 | R>C | liver [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs755331165 | 1770 | R>H | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1771 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2052922661 | 1771 | R>T | No | TOPMed | |
rs1386309138 | 1774 | Q>* | No | gnomAD | |
rs3765524 | 1777 | T>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs773347686 | 1778 | Q>H | No |
ExAC gnomAD |
|
TCGA novel | 1778 | Q>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1780 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs749337785 | 1780 | T>I | No |
ExAC TOPMed gnomAD |
|
rs749337785 | 1780 | T>N | No |
ExAC TOPMed gnomAD |
|
rs184878324 | 1781 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs184878324 | 1781 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1229352883 | 1781 | A>V | No | gnomAD | |
rs375009518 | 1783 | Q>R | No |
ESP ExAC gnomAD |
|
rs1327628714 | 1786 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs368327192 | 1786 | R>S | No |
ESP ExAC gnomAD |
|
rs763759972 | 1789 | P>S | No |
ExAC gnomAD |
|
rs1245949386 | 1793 | R>C | No | gnomAD | |
COSM1585198 COSM1585199 COSM921675 rs1472812094 |
1793 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs2052925451 | 1795 | D>E | No | TOPMed | |
rs2052925360 | 1795 | D>N | No | TOPMed | |
rs2052925557 | 1797 | S>A | No | Ensembl | |
rs764661960 | 1797 | S>C | No |
ExAC gnomAD |
|
COSM3383113 COSM3383112 COSM3383114 |
1798 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1472223808 | 1799 | P>A | No | gnomAD | |
rs1158131470 | 1799 | P>L | No |
TOPMed gnomAD |
|
rs755528503 | 1803 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs2052926302 | 1804 | F>I | No | Ensembl | |
rs1002696684 | 1805 | W>R | No |
TOPMed gnomAD |
|
rs981294689 | 1806 | L>F | No |
TOPMed gnomAD |
|
rs781777103 | 1806 | L>P | No |
ExAC gnomAD |
|
rs981294689 | 1806 | L>V | No |
TOPMed gnomAD |
|
rs1310169027 | 1807 | H>Y | No | gnomAD | |
rs1349255578 | 1808 | G>W | No | gnomAD | |
TCGA novel | 1809 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1811 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1220428835 | 1816 | Y>C | No |
TOPMed gnomAD |
|
COSM6130776 COSM6130777 COSM6130778 COSM6130775 |
1816 | Y>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs749474276 | 1818 | T>S | No |
ExAC TOPMed gnomAD |
|
rs771250044 | 1820 | D>Y | No |
ExAC gnomAD |
|
rs1317035766 | 1821 | L>F | No | gnomAD | |
rs1375813217 | 1821 | L>P | No | gnomAD | |
rs2053138612 | 1824 | H>Y | No | Ensembl | |
rs1258200464 | 1827 | A>P | No | gnomAD | |
rs1386718843 | 1827 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
TCGA novel | 1831 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs757398673 | 1831 | E>G | No |
ExAC gnomAD |
|
COSM415403 COSM1645601 COSM1133327 |
1831 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2053139148 | 1832 | A>E | No | TOPMed | |
rs199653498 | 1834 | G>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2053139572 | 1835 | G>S | No |
TOPMed gnomAD |
|
rs75409041 | 1840 | L>F | No | Ensembl | |
rs779910403 | 1842 | P>A | No |
ExAC TOPMed gnomAD |
|
rs2053140300 COSM262983 |
1845 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs746926247 | 1846 | W>R | No |
ExAC gnomAD |
|
COSM4847920 COSM4847919 COSM4847918 COSM4847921 |
1847 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1404986261 | 1848 | K>R | No | gnomAD | |
rs768706217 | 1849 | N>K | No |
ExAC gnomAD |
|
rs2053140884 | 1851 | P>S | No | gnomAD | |
rs2053140986 | 1852 | M>V | No | gnomAD | |
rs1589509469 | 1853 | Y>C | No | Ensembl | |
rs1436598076 | 1855 | K>Q | No | gnomAD | |
rs1294978179 | 1855 | K>R | No | gnomAD | |
rs1325431415 | 1856 | F>L | No | gnomAD | |
rs1233710771 | 1858 | P>A | No | gnomAD | |
rs1233710771 | 1858 | P>S | No | gnomAD | |
rs2053142089 | 1860 | E>Q | No |
TOPMed gnomAD |
|
rs2053142181 | 1861 | R>K | No | Ensembl | |
rs1342857627 | 1865 | S>N | No |
TOPMed gnomAD |
|
rs1199784194 | 1865 | S>R | No |
TOPMed gnomAD |
|
rs1262632814 | 1868 | P>S | No |
TOPMed gnomAD |
|
rs1273582281 | 1869 | A>E | No |
TOPMed gnomAD |
|
rs184591536 | 1869 | A>S | No |
1000Genomes ExAC gnomAD |
|
rs184591536 | 1869 | A>T | No |
1000Genomes ExAC gnomAD |
|
rs2053143079 | 1870 | V>D | No |
TOPMed gnomAD |
|
rs1246436636 | 1870 | V>I | No |
TOPMed gnomAD |
|
rs1234999458 | 1871 | Y>H | No | TOPMed | |
rs933902901 | 1872 | S>F | No |
TOPMed gnomAD |
|
COSM262984 | 1872 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs772943934 | 1875 | I>F | No |
ExAC gnomAD |
|
rs762686660 | 1875 | I>M | No |
ExAC gnomAD |
|
COSM3441860 COSM3441861 COSM3441862 |
1877 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1427932815 | 1881 | V>M | No |
TOPMed gnomAD |
|
rs1171255447 | 1884 | S>G | No |
TOPMed gnomAD |
|
COSM267190 | 1886 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1294956402 | 1887 | M>I | No |
TOPMed gnomAD |
|
rs2053209579 | 1887 | M>T | No | TOPMed | |
rs2053209419 | 1887 | M>V | No | Ensembl | |
rs2053209807 | 1888 | G>* | No | Ensembl | |
rs759125453 | 1891 | C>S | No |
ExAC gnomAD |
|
rs2053210252 | 1891 | C>S | No | Ensembl | |
rs759125453 | 1891 | C>Y | No |
ExAC gnomAD |
|
rs2053210462 | 1892 | I>F | No |
TOPMed gnomAD |
|
rs2053210597 | 1892 | I>T | No | Ensembl | |
rs2053210462 | 1892 | I>V | No |
TOPMed gnomAD |
|
COSM1646357 COSM686033 COSM1146525 |
1893 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2053210766 | 1893 | E>G | No | Ensembl | |
rs764467728 | 1895 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs374201007 | 1896 | V>I | No |
ESP TOPMed gnomAD |
|
rs2053211204 | 1897 | L>V | No | Ensembl | |
COSM5192515 COSM1474900 COSM1474899 COSM1474898 |
1898 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1388477579 | 1899 | M>T | No | TOPMed | |
rs1302831861 | 1902 | D>N | No | gnomAD | |
rs777216538 | 1903 | S>N | No |
ExAC TOPMed gnomAD |
|
rs777216538 | 1903 | S>T | No |
ExAC TOPMed gnomAD |
|
rs1589512494 | 1905 | H>R | No | Ensembl | |
rs974611612 | 1907 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs762105530 | 1907 | R>H | No |
ExAC TOPMed gnomAD |
|
rs2133639890 | 1908 | T>I | No | Ensembl | |
rs765592069 | 1910 | P>L | No |
ExAC gnomAD |
|
rs1366569206 | 1912 | H>L | No | gnomAD | |
rs1357470118 | 1912 | H>Y | No | gnomAD | |
TCGA novel | 1913 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1589512569 | 1915 | T>A | No | Ensembl | |
rs918778336 | 1915 | T>N | No | Ensembl | |
rs766637825 | 1918 | P>L | No |
ExAC gnomAD |
|
rs184071036 | 1919 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM5765885 rs755120877 COSM5765887 COSM5765884 COSM5765886 |
1920 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC TOPMed gnomAD |
rs1589512617 | 1920 | W>R | No | Ensembl | |
rs1564881408 RCV000722696 |
1922 | E>missing | No |
ClinVar dbSNP |
|
rs780945870 | 1922 | E>K | No |
ExAC gnomAD |
|
rs748133025 | 1923 | Q>E | No |
ExAC gnomAD |
|
rs2053214256 | 1923 | Q>P | No | TOPMed | |
rs377288149 | 1927 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs2053214462 | 1927 | H>Y | No | Ensembl | |
rs1004119938 | 1929 | H>R | No | TOPMed | |
rs745313987 | 1931 | E>K | No |
ExAC TOPMed gnomAD |
|
rs866123283 | 1932 | D>N | No | gnomAD | |
rs866123283 | 1932 | D>Y | No | gnomAD | |
rs2053215702 | 1933 | L>P | No | Ensembl | |
rs2053215801 | 1934 | V>A | No | Ensembl | |
rs1219781383 | 1935 | F>C | No | gnomAD | |
COSM4016825 rs1314937548 COSM4016826 COSM4016827 |
1937 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs1343115907 | 1938 | F>C | No |
TOPMed gnomAD |
|
rs1300173316 | 1940 | V>I | No | TOPMed | |
rs1245492536 | 1943 | N>D | No | gnomAD | |
rs776933870 | 1943 | N>S | No |
ExAC gnomAD |
|
rs1344794553 | 1944 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs376573095 | 1945 | S>T | No |
ESP ExAC TOPMed |
|
rs1251254953 | 1946 | S>A | No | gnomAD | |
rs1443679422 | 1949 | T>I | No | gnomAD | |
rs1305616570 | 1950 | A>S | No |
TOPMed gnomAD |
|
COSM4853514 COSM4853515 COSM4853513 COSM4853512 |
1952 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2053218042 | 1958 | A>V | No | TOPMed | |
COSM4016830 COSM4016828 COSM4016829 rs774196868 |
1961 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs369203569 | 1961 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs267602627 | 1962 | G>E | No | Ensembl | |
COSM1585195 COSM1585194 COSM921678 |
1963 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1970567 RCV000592054 CA5613444 rs775052849 COSM1970566 COSM1970568 |
1964 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
rs746572025 | 1964 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs868033486 | 1967 | Q>* | No | gnomAD | |
rs1221249322 | 1967 | Q>R | No | gnomAD | |
rs770255322 | 1969 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1323373118 | 1969 | R>Q | No |
TOPMed gnomAD |
|
rs1228545577 | 1971 | L>I | No | gnomAD | |
rs763259071 | 1971 | L>P | No |
ExAC gnomAD |
|
rs1009072565 | 1974 | E>* | No | TOPMed | |
rs771343639 | 1975 | V>I | No |
ExAC gnomAD |
|
rs1214596384 | 1976 | L>* | No | gnomAD | |
TCGA novel | 1977 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs764292204 | 1977 | E>G | No |
TOPMed gnomAD |
|
rs1246888142 | 1977 | E>Q | No | gnomAD | |
rs1196943350 | 1979 | S>A | No | gnomAD | |
rs774371738 | 1980 | S>G | No |
ExAC TOPMed gnomAD |
|
rs1163170205 | 1980 | S>N | No | gnomAD | |
rs774371738 | 1980 | S>R | No |
ExAC TOPMed gnomAD |
|
COSM1349966 TCGA novel rs775907880 |
1982 | F>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA cosmic curated gnomAD |
rs1285299068 | 1983 | I>V | No | TOPMed | |
COSM1585192 COSM1585193 COSM921679 |
1984 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1160067877 | 1984 | N>Y | No |
TOPMed gnomAD |
|
rs1399213126 | 1986 | R>G | No | gnomAD | |
TCGA novel | 1986 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1386100747 | 1987 | R>K | No |
TOPMed gnomAD |
|
rs1317936686 | 1988 | M>I | No |
TOPMed gnomAD |
|
rs1299023922 | 1988 | M>V | No |
TOPMed gnomAD |
|
rs868319587 | 1990 | E>K | No |
TOPMed gnomAD |
|
COSM1744114 rs1350630025 COSM1744115 COSM1744116 |
1992 | S>F | biliary_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs1345503411 | 1994 | G>S | No | gnomAD | |
rs199968141 | 1995 | N>S | No |
1000Genomes ExAC gnomAD |
|
rs1564883514 | 1996 | T>A | No | Ensembl | |
rs1347962803 | 1997 | M>T | No |
TOPMed gnomAD |
|
rs1222657238 | 1999 | A>P | No |
TOPMed gnomAD |
|
rs764074119 | 2001 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs750201745 | 2002 | M>V | No |
ExAC gnomAD |
|
rs200908827 | 2003 | F>L | No |
ExAC TOPMed |
|
rs2053446778 | 2005 | T>I | No | TOPMed | |
rs779637729 | 2007 | E>Q | No |
ExAC gnomAD |
|
RCV000722980 rs1564887427 |
2007 | E>missing | No |
ClinVar dbSNP |
|
rs1461617727 | 2008 | R>G | No |
TOPMed gnomAD |
|
rs1169941611 | 2010 | C>R | No |
TOPMed gnomAD |
|
rs1169941611 | 2010 | C>S | No |
TOPMed gnomAD |
|
TCGA novel | 2012 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2053447551 | 2012 | Q>L | No | Ensembl | |
rs2053447735 TCGA novel |
2015 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs751230422 | 2017 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1449777749 | 2019 | H>D | No | gnomAD | |
rs1313950181 | 2019 | H>R | No | gnomAD | |
rs1365390945 | 2020 | G>A | No |
TOPMed gnomAD |
|
rs1365390945 | 2020 | G>E | No |
TOPMed gnomAD |
|
rs552752024 | 2021 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM3441865 COSM3441863 COSM3441864 |
2022 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1338726854 | 2024 | P>L | No | gnomAD | |
rs2053448525 | 2024 | P>S | No | gnomAD | |
rs371057938 | 2025 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs371057938 | 2025 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs2053448918 | 2026 | P>R | No | TOPMed | |
rs2053449093 | 2027 | F>L | No | Ensembl | |
rs2053449249 | 2028 | T>A | No | gnomAD | |
rs1564887576 RCV000722964 |
2028 | T>A | No |
ClinVar Ensembl dbSNP |
|
rs2053449340 | 2028 | T>N | No | gnomAD | |
rs779315815 | 2029 | V>I | No |
ExAC TOPMed gnomAD |
|
rs1242763794 | 2031 | T>N | No | gnomAD | |
rs1242763794 | 2031 | T>S | No | gnomAD | |
rs2053450020 | 2032 | I>V | No | Ensembl | |
rs377038783 | 2034 | G>A | No |
ESP ExAC TOPMed gnomAD |
|
COSM218286 COSM1159215 COSM3441869 |
2034 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs373598655 | 2034 | G>R | No |
ESP TOPMed gnomAD |
|
rs2053450278 | 2035 | G>D | No | Ensembl | |
rs370404700 | 2036 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
rs370404700 | 2036 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
rs769056474 | 2037 | K>T | No |
ExAC gnomAD |
|
rs2053450729 | 2038 | A>E | No | Ensembl | |
rs977054750 | 2040 | Q>H | No | TOPMed | |
COSM284074 | 2042 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs761840349 | 2043 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs2053581498 | 2045 | I>T | No | Ensembl | |
rs1310705738 | 2047 | T>A | No |
TOPMed gnomAD |
|
rs1165287995 | 2047 | T>I | No | gnomAD | |
rs769780692 | 2048 | N>H | No |
ExAC TOPMed gnomAD |
|
rs1278154640 | 2048 | N>S | No | TOPMed | |
rs2053582001 | 2050 | Q>H | No | Ensembl | |
rs773139035 | 2052 | I>V | No |
ExAC gnomAD |
|
rs1393217745 | 2053 | K>E | No | gnomAD | |
rs1304944660 | 2053 | K>N | No | gnomAD | |
rs202230448 | 2055 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2053582524 | 2055 | V>L | No | gnomAD | |
rs755150417 | 2056 | T>I | No |
ExAC TOPMed gnomAD |
|
rs755150417 | 2056 | T>S | No |
ExAC TOPMed gnomAD |
|
rs374921875 | 2057 | T>P | No |
ESP ExAC TOPMed gnomAD |
|
rs190025280 | 2058 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs190025280 | 2058 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs372611082 | 2058 | D>V | No |
ESP ExAC TOPMed gnomAD |
|
rs199907181 | 2059 | Y>C | No | TOPMed | |
rs199907181 | 2059 | Y>F | No | TOPMed | |
COSM1585191 COSM1585190 COSM921681 |
2060 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 2061 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2053583521 | 2061 | L>F | No | TOPMed | |
COSM1585188 COSM921682 COSM1585189 |
2061 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1249180417 | 2062 | M>I | No | gnomAD | |
rs373329178 | 2062 | M>K | No |
ExAC gnomAD |
|
rs373329178 | 2062 | M>T | No |
ExAC gnomAD |
|
rs1589530536 | 2062 | M>V | No | Ensembl | |
rs763507258 | 2063 | E>A | No |
ExAC gnomAD |
|
rs758950503 | 2065 | K>I | No |
ExAC gnomAD |
|
TCGA novel | 2067 | F>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1356269652 | 2068 | I>T | No | gnomAD | |
rs780749041 | 2068 | I>V | No |
ExAC TOPMed gnomAD |
|
rs751934950 | 2069 | S>C | No |
ExAC TOPMed gnomAD |
|
rs755416836 | 2071 | E>G | No |
ExAC gnomAD |
|
rs748326515 | 2075 | C>G | No |
ExAC gnomAD |
|
rs748326515 | 2075 | C>R | No |
ExAC gnomAD |
|
rs1317450115 | 2075 | C>Y | No | gnomAD | |
rs2053585135 | 2076 | R>K | No | TOPMed | |
rs777703876 | 2078 | Q>H | No |
ExAC gnomAD |
|
rs1380776200 | 2078 | Q>P | No |
TOPMed gnomAD |
|
COSM1474903 COSM1474901 COSM1474902 rs1431829778 COSM5192801 |
2079 | P>T | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs2053585792 | 2083 | A>T | No | Ensembl | |
COSM1970594 rs774292214 COSM4626704 COSM1970593 COSM1970595 |
2083 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs1472589178 | 2084 | I>T | No | TOPMed | |
rs1157378517 | 2084 | I>V | No |
TOPMed gnomAD |
|
TCGA novel | 2085 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs771764501 | 2085 | G>D | No |
ExAC gnomAD |
|
rs759265610 | 2085 | G>R | No |
ExAC gnomAD |
|
rs2053586288 | 2088 | E>K | No | Ensembl | |
rs1194855624 | 2089 | E>D | No | Ensembl | |
TCGA novel | 2089 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM921683 COSM1585187 COSM1585186 |
2090 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2053586671 | 2091 | M>I | No | gnomAD | |
rs1000159715 | 2091 | M>V | No |
TOPMed gnomAD |
|
rs1204953857 | 2093 | I>T | No | gnomAD | |
rs1460594357 | 2096 | S>G | No | gnomAD | |
rs1054881333 | 2097 | W>R | No | Ensembl | |
rs2053587274 | 2100 | E>K | No | TOPMed | |
rs538437231 | 2104 | M>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM4016833 COSM4016832 COSM4016831 |
2104 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs760229823 | 2104 | M>V | No |
ExAC TOPMed gnomAD |
|
rs1349683566 | 2105 | G>A | No |
TOPMed gnomAD |
|
rs1426476262 | 2105 | G>R | No | gnomAD | |
rs753257897 | 2106 | R>K | No |
ExAC gnomAD |
|
rs375684891 | 2107 | I>T | No |
ESP ExAC gnomAD |
|
TCGA novel | 2111 | T>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs755331102 | 2111 | T>P | No |
ExAC gnomAD |
|
rs781410807 | 2113 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs2053588328 | 2113 | Q>R | No | Ensembl | |
rs1269879141 | 2114 | E>K | No |
TOPMed gnomAD |
|
rs2053820935 | 2116 | L>R | No | Ensembl | |
COSM1585185 COSM1585184 COSM921684 |
2118 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs908769656 | 2120 | N>S | No |
TOPMed gnomAD |
|
rs1410521926 | 2121 | I>T | No | gnomAD | |
rs1326370481 | 2123 | Q>K | No | gnomAD | |
rs1589542824 | 2124 | D>G | No | Ensembl | |
TCGA novel | 2125 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1366618328 | 2126 | K>E | No |
TOPMed gnomAD |
|
COSM4016836 COSM4016835 COSM4016834 |
2127 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1301849938 | 2134 | E>A | No | gnomAD | |
rs758237098 | 2135 | E>G | No |
ExAC TOPMed gnomAD |
|
rs758237098 | 2135 | E>V | No |
ExAC TOPMed gnomAD |
|
rs1589542917 COSM1585182 COSM921685 COSM1585183 |
2137 | F>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs763852846 | 2137 | F>S | No | Ensembl | |
rs1041719230 | 2139 | V>I | No | Ensembl | |
rs2053824617 | 2140 | Q>E | No | gnomAD | |
rs1361352223 | 2143 | D>N | No | gnomAD | |
rs768511827 | 2146 | P>L | No | ExAC | |
rs2053825056 | 2146 | P>S | No | Ensembl | |
rs769631306 | 2150 | R>L | No |
ExAC TOPMed gnomAD |
|
COSM1585181 rs769631306 COSM1585180 COSM921686 |
2150 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs568921619 | 2155 | A>P | No |
1000Genomes ExAC gnomAD |
|
TCGA novel | 2156 | P>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1589543032 | 2156 | P>L | No | Ensembl | |
rs1386031367 | 2156 | P>T | No |
TOPMed gnomAD |
|
rs762568769 | 2157 | R>C | No |
ExAC TOPMed gnomAD |
|
rs767860128 | 2157 | R>H | No |
ExAC TOPMed gnomAD |
|
rs767860128 | 2157 | R>L | No |
ExAC TOPMed gnomAD |
|
rs767860128 | 2157 | R>P | No |
ExAC TOPMed gnomAD |
|
rs1330358397 | 2158 | V>D | No | gnomAD | |
rs200549010 COSM1970621 COSM1970620 COSM1970622 |
2158 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1373181398 | 2160 | T>N | No |
TOPMed gnomAD |
|
rs1040807562 | 2161 | A>P | No | TOPMed | |
RCV000516839 rs1040807562 CA377648579 |
2161 | A>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
rs896930151 | 2161 | A>V | No |
TOPMed gnomAD |
|
rs773108869 | 2162 | Q>* | No | Ensembl | |
rs751179270 | 2164 | V>I | No | Ensembl | |
rs1352289869 | 2165 | I>T | No |
TOPMed gnomAD |
|
rs748007890 | 2168 | T>N | No |
ExAC gnomAD |
|
rs2053932415 | 2169 | L>S | No | Ensembl | |
rs769544936 | 2170 | C>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs769544936 | 2170 | C>R | No |
ExAC TOPMed gnomAD |
|
rs1268350123 | 2171 | K>N | No | gnomAD | |
rs1379889812 | 2171 | K>T | No | gnomAD | |
TCGA novel | 2172 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2053932804 | 2172 | A>V | No | gnomAD | |
TCGA novel | 2174 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1014600774 | 2174 | Y>S | No | Ensembl | |
rs373010369 | 2177 | S>C | No | ESP | |
rs2053933434 | 2177 | S>T | No | Ensembl | |
rs1165674143 | 2180 | S>G | No |
TOPMed gnomAD |
|
rs1202047514 | 2180 | S>N | No |
TOPMed gnomAD |
|
rs773797305 | 2180 | S>R | No |
ExAC TOPMed gnomAD |
|
rs1202047514 | 2180 | S>T | No |
TOPMed gnomAD |
|
rs2053933951 | 2181 | N>D | No | Ensembl | |
rs776947470 | 2182 | P>L | No |
ExAC gnomAD |
|
TCGA novel | 2182 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs200439178 | 2185 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs765395358 | 2186 | D>N | No |
ExAC TOPMed gnomAD |
|
rs750672164 | 2187 | Y>C | No |
ExAC gnomAD |
|
rs1176586432 | 2187 | Y>H | No | gnomAD | |
rs750672164 | 2187 | Y>S | No |
ExAC gnomAD |
|
TCGA novel | 2189 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2053934798 | 2190 | L>F | No |
TOPMed gnomAD |
|
COSM3441872 COSM3441871 COSM3441870 |
2191 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs754922973 COSM1187998 |
2191 | E>V | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
COSM4016838 COSM4016839 rs1315950279 COSM4016837 |
2192 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
rs2053935078 | 2194 | V>L | No | Ensembl | |
rs976045617 | 2195 | K>R | No | TOPMed | |
rs2053935425 | 2197 | T>A | No | TOPMed | |
rs1405452061 | 2198 | T>N | No |
TOPMed gnomAD |
|
TCGA novel | 2199 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1030145372 | 2203 | T>I | No | Ensembl | |
rs1030145372 | 2203 | T>N | No | Ensembl | |
rs2053936122 | 2204 | T>I | No | TOPMed | |
rs2133907640 | 2205 | P>L | No | Ensembl | |
rs748963046 | 2205 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs748963046 | 2205 | P>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs778463347 | 2207 | S>C | No |
ExAC TOPMed gnomAD |
|
rs369756376 | 2207 | S>T | No | ESP | |
rs2053936556 | 2209 | Q>R | No | gnomAD | |
rs953372406 | 2210 | R>L | No |
TOPMed gnomAD |
|
rs953372406 | 2210 | R>P | No |
TOPMed gnomAD |
|
rs953372406 | 2210 | R>Q | No |
TOPMed gnomAD |
|
COSM1349968 COSM1349969 COSM1349970 rs1363480647 COSM5166243 |
2210 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs1271611192 | 2211 | V>I | No |
TOPMed gnomAD |
|
rs1271611192 | 2211 | V>L | No |
TOPMed gnomAD |
|
rs950728556 | 2213 | L>P | No | TOPMed | |
rs950728556 | 2213 | L>R | No | TOPMed | |
rs373489516 | 2214 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV001580282 rs373489516 |
2214 | D>N | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1032268249 | 2216 | E>K | No |
TOPMed gnomAD |
|
rs762109366 | 2219 | F>I | No |
ExAC gnomAD |
|
rs762109366 | 2219 | F>L | No |
ExAC gnomAD |
|
rs542110825 | 2227 | G>S | No | Ensembl | |
COSM4914338 COSM4914339 COSM4914337 COSM4914340 |
2228 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2053937937 | 2228 | A>T | No | Ensembl | |
COSM686030 COSM1646355 rs1156639637 COSM1146528 |
2229 | G>E | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
COSM1646356 COSM1146526 COSM686032 |
2229 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1363563143 | 2232 | I>M | No | gnomAD | |
rs766562737 | 2232 | I>T | No |
ExAC gnomAD |
|
rs751630029 | 2233 | L>V | No |
ExAC TOPMed gnomAD |
|
rs1338607117 | 2234 | K>* | No |
TOPMed gnomAD |
|
rs1336628562 | 2236 | K>E | No | gnomAD | |
rs2053938809 | 2236 | K>R | No | TOPMed | |
rs2053938900 | 2237 | E>K | No | TOPMed | |
rs913291323 | 2238 | Q>R | No | Ensembl | |
rs770345226 | 2241 | A>P | No |
ExAC gnomAD |
|
rs770345226 | 2241 | A>S | No |
ExAC gnomAD |
|
rs1317588208 | 2243 | R>* | No | gnomAD | |
rs1317588208 | 2243 | R>G | No | gnomAD | |
rs771149406 | 2243 | R>Q | No |
ExAC gnomAD |
|
rs1554919219 | 2246 | K>R | No | Ensembl | |
rs981543530 | 2247 | K>N | No | Ensembl | |
RCV001383386 rs747833630 |
2248 | K>missing | No |
ClinVar dbSNP |
|
rs774462183 | 2248 | K>R | No |
ExAC gnomAD |
|
rs2053953964 | 2249 | G>S | No | Ensembl | |
rs2053954074 | 2249 | G>V | No | Ensembl | |
TCGA novel | 2250 | I>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs767697356 | 2251 | S>Y | No |
ExAC TOPMed gnomAD |
|
rs180876175 | 2253 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs180876175 | 2253 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs202032657 | 2254 | S>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2053955066 | 2256 | L>V | No | TOPMed | |
rs1589550076 | 2258 | K>N | No | Ensembl | |
rs375539976 | 2258 | K>Q | No | ESP | |
rs2053955629 | 2261 | K>Q | No | TOPMed | |
rs2053955734 | 2261 | K>T | No | gnomAD | |
rs2053955838 | 2263 | T>A | No | gnomAD | |
rs909411688 | 2263 | T>I | No |
TOPMed gnomAD |
|
rs1564899669 | 2264 | K>Q | No | Ensembl | |
rs1422983924 | 2266 | P>H | No |
TOPMed gnomAD |
|
rs368314080 | 2266 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM921689 COSM1585176 rs201288761 COSM1585177 |
2267 | R>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA |
rs867054095 | 2268 | G>R | No | Ensembl | |
rs1383013974 | 2268 | G>V | No | gnomAD | |
rs758113749 | 2270 | T>I | No |
ExAC gnomAD |
|
rs1453614580 | 2273 | S>P | No |
TOPMed gnomAD |
|
rs375606039 | 2274 | Q>P | No |
ESP ExAC TOPMed gnomAD |
|
rs1181728731 | 2275 | L>F | No |
TOPMed gnomAD |
|
rs778177096 | 2277 | T>I | No |
ExAC gnomAD |
|
rs570419090 | 2278 | S>P | No | gnomAD | |
rs1216315721 | 2279 | E>G | No | gnomAD | |
rs1256842157 | 2280 | S>C | No | gnomAD | |
rs1256842157 | 2280 | S>G | No | gnomAD | |
rs1197510732 | 2280 | S>N | No |
TOPMed gnomAD |
|
rs2053958362 | 2280 | S>R | No | Ensembl | |
rs1323861374 | 2281 | I>T | No | gnomAD | |
rs749619246 | 2282 | Q>K | No |
ExAC gnomAD |
|
rs771218413 | 2284 | K>E | No | ExAC | |
rs2053958900 | 2284 | K>N | No | TOPMed | |
rs771540823 | 2285 | E>G | No |
ExAC TOPMed gnomAD |
|
rs1235337295 | 2285 | E>K | No | gnomAD | |
rs1051484226 | 2286 | E>G | No | Ensembl | |
TCGA novel | 2286 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs571727623 | 2288 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2053959551 | 2290 | G>S | No | TOPMed | |
rs772739339 | 2290 | G>V | No |
TOPMed gnomAD |
|
rs772469423 | 2291 | G>A | No |
ExAC TOPMed gnomAD |
|
rs760867173 | 2292 | L>M | No |
ExAC gnomAD |
|
rs2053960028 | 2293 | S>C | No |
TOPMed gnomAD |
|
rs1309552948 | 2295 | S>N | No |
TOPMed gnomAD |
|
rs1309552948 | 2295 | S>T | No |
TOPMed gnomAD |
|
rs1178874455 | 2296 | D>N | No | gnomAD | |
rs2053960235 | 2297 | T>A | No | TOPMed | |
TCGA novel | 2297 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs764042919 | 2297 | T>K | No |
ExAC gnomAD |
|
TCGA novel | 2299 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2133916064 | 2300 | Y>D | No | Ensembl | |
rs776445270 | 2301 | R>L | No |
ExAC TOPMed gnomAD |
|
rs776445270 | 2301 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs2133916226 | 2303 | Q>W | No | Ensembl |
No associated diseases with Q9P212
Functions
Description | ||
---|---|---|
EC Number | 3.1.4.11 | Phosphoric diester hydrolases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
4 GO annotations of cellular component
Name | Definition |
---|---|
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
6 GO annotations of molecular function
Name | Definition |
---|---|
enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
metal ion binding | Binding to a metal ion. |
phosphatidylinositol phospholipase C activity | Catalysis of the reaction |
phospholipase C activity | Catalysis of the reaction |
small GTPase binding | Binding to a small monomeric GTPase. |
13 GO annotations of biological process
Name | Definition |
---|---|
calcium-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions. |
diacylglycerol biosynthetic process | The chemical reactions and pathways resulting in the formation of diacylglycerol, a glyceride in which any two of the R groups (positions not specified) are acyl groups while the remaining R group can be either H or an alkyl group. |
epidermal growth factor receptor signaling pathway | The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
glomerulus development | The progression of the glomerulus over time from its initial formation until its mature state. The glomerulus is a capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney. The glomerulus is part of the nephron and is restricted to one body segment. |
intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
lipid catabolic process | The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. |
phosphatidylinositol metabolic process | The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. |
phosphatidylinositol-mediated signaling | The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
phospholipase C-activating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of phospholipase C (PLC) and a subsequent increase in the intracellular concentration of inositol trisphosphate (IP3) and diacylglycerol (DAG). |
positive regulation of lamellipodium assembly | Any process that increases the rate, frequency or extent of the formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell. |
Ras protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. |
release of sequestered calcium ion into cytosol | The process in which calcium ions sequestered in the endoplasmic reticulum, Golgi apparatus or mitochondria are released into the cytosolic compartment. |
31 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P32383 | PLC1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
Q1RML2 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Bos taurus (Bovine) | PR |
P10895 | PLCD1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Bos taurus (Bovine) | SS |
Q2VRL0 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Gallus gallus (Chicken) | PR |
Q15111 | PLCL1 | Inactive phospholipase C-like protein 1 | Homo sapiens (Human) | PR |
Q9UPR0 | PLCL2 | Inactive phospholipase C-like protein 2 | Homo sapiens (Human) | PR |
Q86YW0 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Homo sapiens (Human) | PR |
Q8N3E9 | PLCD3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 | Homo sapiens (Human) | SS |
Q9BRC7 | PLCD4 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 | Homo sapiens (Human) | SS |
P16885 | PLCG2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 | Homo sapiens (Human) | SS |
P19174 | PLCG1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 | Homo sapiens (Human) | EV |
Q00722 | PLCB2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 | Homo sapiens (Human) | EV |
Q01970 | PLCB3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 | Homo sapiens (Human) | EV |
Q9NQ66 | PLCB1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | Homo sapiens (Human) | EV |
P51178 | PLCD1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Homo sapiens (Human) | EV |
Q15147 | PLCB4 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 | Homo sapiens (Human) | PR |
Q8R3B1 | Plcd1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Mus musculus (Mouse) | SS |
Q8K394 | Plcl2 | Inactive phospholipase C-like protein 2 | Mus musculus (Mouse) | PR |
Q8K2J0 | Plcd3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 | Mus musculus (Mouse) | PR |
Q8K4S1 | Plce1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Mus musculus (Mouse) | SS |
Q7YRU3 | PLCZ | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Sus scrofa (Pig) | PR |
P10688 | Plcd1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Rattus norvegicus (Rat) | SS |
Q99P84 | Plce1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Rattus norvegicus (Rat) | EV |
Q8GV43 | PLC6 | Phosphoinositide phospholipase C 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q944C2 | PLC5 | Phosphoinositide phospholipase C 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q6NMA7 | PLC9 | Phosphoinositide phospholipase C 9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9STZ3 | PLC8 | Phosphoinositide phospholipase C 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q56W08 | PLC3 | Phosphoinositide phospholipase C 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q39032 | PLC1 | Phosphoinositide phospholipase C 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q944C1 | PLC4 | Phosphoinositide phospholipase C 4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
A5D6R3 | plcd3a | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3-A | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MTSEEMTASV | LIPVTQRKVV | SAQSAADESS | EKVSDINISK | AHTVRRSGET | SHTISQLNKL |
70 | 80 | 90 | 100 | 110 | 120 |
KEEPSGSNLP | KILSIAREKI | VSDENSNEKC | WEKIMPDSAK | NLNINCNNIL | RNHQHGLPQR |
130 | 140 | 150 | 160 | 170 | 180 |
QFYEMYNSVA | EEDLCLETGI | PSPLERKVFP | GIQLELDRPS | MGISPLGNQS | VIIETGRAHP |
190 | 200 | 210 | 220 | 230 | 240 |
DSRRAVFHFH | YEVDRRMSDT | FCTLSENLIL | DDCGNCVPLP | GGEEKQKKNY | VAYTCKLMEL |
250 | 260 | 270 | 280 | 290 | 300 |
AKNCDNKNEQ | LQCDHCDTLN | DKYFCFEGSC | EKVDMVYSGD | SFCRKDFTDS | QAAKTFLSHF |
310 | 320 | 330 | 340 | 350 | 360 |
EDFPDNCDDV | EEDAFKSKKE | RSTLLVRRFC | KNDREVKKSV | YTGTRAIVRT | LPSGHIGLTA |
370 | 380 | 390 | 400 | 410 | 420 |
WSYIDQKRNG | PLLPCGRVME | PPSTVEIRQD | GSQRLSEAQW | YPIYNAVRRE | ETENTVGSLL |
430 | 440 | 450 | 460 | 470 | 480 |
HFLTKLPASE | TAHGRISVGP | CLKQCVRDTV | CEYRATLQRT | SISQYITGSL | LEATTSLGAR |
490 | 500 | 510 | 520 | 530 | 540 |
SGLLSTFGGS | TGRMMLKERQ | PGPSVANSNA | LPSSSAGISK | ELIDLQPLIQ | FPEEVASILM |
550 | 560 | 570 | 580 | 590 | 600 |
EQEQTIYRRV | LPVDYLCFLT | RDLGTPECQS | SLPCLKASIS | ASILTTQNGE | HNALEDLVMR |
610 | 620 | 630 | 640 | 650 | 660 |
FNEVSSWVTW | LILTAGSMEE | KREVFSYLVH | VAKCCWNMGN | YNAVMEFLAG | LRSRKVLKMW |
670 | 680 | 690 | 700 | 710 | 720 |
QFMDQSDIET | MRSLKDAMAQ | HESSCEYRKV | VTRALHIPGC | KVVPFCGVFL | KELCEVLDGA |
730 | 740 | 750 | 760 | 770 | 780 |
SGLMKLCPRY | NSQEETLEFV | ADYSGQDNFL | QRVGQNGLKN | SEKESTVNSI | FQVIRSCNRS |
790 | 800 | 810 | 820 | 830 | 840 |
LETDEEDSPS | EGNSSRKSSL | KDKSRWQFII | GDLLDSDNDI | FEQSKEYDSH | GSEDSQKAFD |
850 | 860 | 870 | 880 | 890 | 900 |
HGTELIPWYV | LSIQADVHQF | LLQGATVIHY | DQDTHLSARC | FLQLQPDNST | LTWVKPTTAS |
910 | 920 | 930 | 940 | 950 | 960 |
PASSKAKLGV | LNNTAEPGKF | PLLGNAGLSS | LTEGVLDLFA | VKAVYMGHPG | IDIHTVCVQN |
970 | 980 | 990 | 1000 | 1010 | 1020 |
KLGSMFLSET | GVTLLYGLQT | TDNRLLHFVA | PKHTAKMLFS | GLLELTRAVR | KMRKFPDQRQ |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
QWLRKQYVSL | YQEDGRYEGP | TLAHAVELFG | GRRWSARNPS | PGTSAKNAEK | PNMQRNNTLG |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
ISTTKKKKKI | LMRGESGEVT | DDEMATRKAK | MHKECRSRSG | SDPQDINEQE | ESEVNAIANP |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
PNPLPSRRAH | SLTTAGSPNL | AAGTSSPIRP | VSSPVLSSSN | KSPSSAWSSS | SWHGRIKGGM |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
KGFQSFMVSD | SNMSFVEFVE | LFKSFSVRSR | KDLKDLFDVY | AVPCNRSGSE | SAPLYTNLTI |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
DENTSDLQPD | LDLLTRNVSD | LGLFIKSKQQ | LSDNQRQISD | AIAAASIVTN | GTGIESTSLG |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
IFGVGILQLN | DFLVNCQGEH | CTYDEILSII | QKFEPSISMC | HQGLMSFEGF | ARFLMDKENF |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
ASKNDESQEN | IKELQLPLSY | YYIESSHNTY | LTGHQLKGES | SVELYSQVLL | QGCRSVELDC |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
WDGDDGMPII | YHGHTLTTKI | PFKEVVEAID | RSAFINSDLP | IIISIENHCS | LPQQRKMAEI |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
FKTVFGEKLV | TKFLFETDFS | DDPMLPSPDQ | LRKKVLLKNK | KLKAHQTPVD | ILKQKAHQLA |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
SMQVQAYNGG | NANPRPANNE | EEEDEEDEYD | YDYESLSDDN | ILEDRPENKS | CNDKLQFEYN |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
EEIPKRIKKA | DNSACNKGKV | YDMELGEEFY | LDQNKKESRQ | IAPELSDLVI | YCQAVKFPGL |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
STLNASGSSR | GKERKSRKSI | FGNNPGRMSP | GETASFNKTS | GKSSCEGIRQ | TWEESSSPLN |
1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
PTTSLSAIIR | TPKCYHISSL | NENAAKRLCR | RYSQKLTQHT | ACQLLRTYPA | ATRIDSSNPN |
1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
PLMFWLHGIQ | LVALNYQTDD | LPLHLNAAMF | EANGGCGYVL | KPPVLWDKNC | PMYQKFSPLE |
1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
RDLDSMDPAV | YSLTIVSGQN | VCPSNSMGSP | CIEVDVLGMP | LDSCHFRTKP | IHRNTLNPMW |
1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
NEQFLFHVHF | EDLVFLRFAV | VENNSSAVTA | QRIIPLKALK | RGYRHLQLRN | LHNEVLEISS |
1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
LFINSRRMEE | NSSGNTMSAS | SMFNTEERKC | LQTHRVTVHG | VPGPEPFTVF | TINGGTKAKQ |
2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
LLQQILTNEQ | DIKPVTTDYF | LMEEKYFISK | EKNECRKQPF | QRAIGPEEEI | MQILSSWFPE |
2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
EGYMGRIVLK | TQQENLEEKN | IVQDDKEVIL | SSEEESFFVQ | VHDVSPEQPR | TVIKAPRVST |
2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
AQDVIQQTLC | KAKYSYSILS | NPNPSDYVLL | EEVVKDTTNK | KTTTPKSSQR | VLLDQECVFQ |
2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
AQSKWKGAGK | FILKLKEQVQ | ASREDKKKGI | SFASELKKLT | KSTKQPRGLT | SPSQLLTSES |
2290 | 2300 | ||||
IQTKEEKPVG | GLSSSDTMDY | RQ |