Q9ULV0
SS
Gene name |
MYO5B (KIAA1119) |
Protein name |
Unconventional myosin-Vb |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4645 |
EC number |
|
Protein Class |
|
Descriptions
Myosin Va (MyoVa) is a protein that functions as a dimer for processive walking on actin filaments. Autoinhibition of MyoVa involves the motor domain (MD) and the globular tail domain (GTD), with the motor adopting a closed, autoinhibited state that is inactive for ATPase activity. This state prevents the unnecessary consumption of ATP and uncontrolled movement when not transporting cargo. MyoVa exists in several states, including closed, half-closed, transition, and open states. The closed state of MyoVa can be changed to a half-closed state when the d-strand temporarily dissociates from the GTD, resulting in the dynamic confirmation of the short side in the triangular-shaped structure, which is called the closed state. In the presence of both a GTBM-containing protein and Rab11a, the half-closed conformation undergoes a significant motion of both the MD and the lever arm (LA), resulting in the disassembly of the hinge structure, which is referred to as a transition state. Finally, the unstable transition conformation quickly shifts to the open conformation, allowing the GTPs to tightly associate with cargo and the MDs to hydrolyze ATP for the walking process. Notably, a single cargo binding of either a GTBM-binding protein or Rab11a is insufficient to effectively activate MyoVa.
Autoinhibitory domains (AIDs)
Target domain |
1440-1823 (Globular tail domain, GTD) |
Relief mechanism |
Ligand binding, Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
5 structures for Q9ULV0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4J5M | X-ray | 207 A | A | 1453-1848 | PDB |
| 4LNZ | X-ray | 311 A | A | 1460-1848 | PDB |
| 4LWZ | X-ray | 255 A | B/D | 1456-1848 | PDB |
| 4LX0 | X-ray | 219 A | B/D | 1456-1848 | PDB |
| AF-Q9ULV0-F1 | Predicted | AlphaFoldDB |
2278 variants for Q9ULV0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001910659 rs1307013087 RCV002557834 |
5 | E>D | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA8962062 RCV001512446 rs190674457 RCV000283470 |
7 | Y>C | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs16951438 CA8962033 RCV002502262 VAR_056182 RCV000957757 RCV000402141 |
10 | C>G | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs141998504 RCV000342101 RCV001519853 CA8961965 |
49 | E>Q | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001361475 rs375051142 RCV003399160 |
54 | V>I | MYO5B-related condition [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002057461 RCV000286879 rs138743872 CA8961957 |
56 | R>L | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8961954 RCV000381499 rs78626055 RCV001515814 |
59 | L>P | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_087245 RCV001823622 rs2144390167 |
81 | H>R | Congenital microvillous atrophy DIAR2 [ClinVar, UniProt] | Yes |
ClinVar Ensembl dbSNP UniProt |
| VAR_087246 | 82 | E>K | DIAR2 [UniProt] | Yes | UniProt |
|
RCV001124121 RCV001862902 rs1165303022 |
91 | V>A | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV002248410 rs372682296 COSM4072439 VAR_087247 |
92 | R>C | Cholestasis, progressive familial intrahepatic, 10 Variant assessed as Somatic; MODERATE impact. PFIC10 [ClinVar, NCI-TCGA, UniProt] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD UniProt |
|
RCV000326839 rs202205346 CA8961934 |
92 | R>H | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001808853 rs2144390075 |
95 | E>missing | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121908103 CA116742 RCV000004471 VAR_054993 |
108 | V>G | Congenital microvillous atrophy DIAR2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes dbSNP |
|
rs2026454898 RCV001124120 |
115 | Q>H | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM3526206 RCV002248413 VAR_087248 rs2144383876 |
119 | Y>C | Cholestasis, progressive familial intrahepatic, 10 Variant assessed as Somatic; MODERATE impact. PFIC10; uncertain significance [ClinVar, NCI-TCGA, UniProt] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP UniProt |
|
RCV002553660 RCV001891340 rs371807276 |
122 | D>G | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1815930 VAR_063141 RCV000612182 RCV001512748 RCV000455826 CA8961899 |
126 | T>A | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_071649 | 143 | A>E | DIAR2 [UniProt] | Yes | UniProt |
| VAR_087249 | 149 | Q>del | DIAR2 [UniProt] | Yes | UniProt |
|
rs993447719 VAR_087250 |
158 | S>F | PFIC10; uncertain significance [UniProt] | Yes |
TOPMed gnomAD UniProt |
|
RCV001756675 VAR_071650 rs1324907355 |
168 | G>R | DIAR2 [UniProt] | Yes |
ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000370607 CA8961859 RCV001850746 rs377138861 |
181 | A>T | Congenital microvillous atrophy Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000990099 rs1166138315 RCV001858719 |
206 | I>T | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs557316656 RCV001123049 RCV001856626 |
213 | R>H | Congenital microvillous atrophy Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1216412 VAR_054994 RCV000990098 rs1053713532 |
219 | R>H | Congenital microvillous atrophy Variant assessed as Somatic; MODERATE impact. large_intestine DIAR2 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_087251 | 252 | Q>del | PFIC10 [UniProt] | Yes | UniProt |
| VAR_087252 | 266 | C>R | PFIC10; decreased ABCB11 targeting to the apical/canalicular plasma membrane in hepatocytes from a homozygous patient [UniProt] | Yes | UniProt |
|
RCV001127081 rs1047868917 RCV002556774 |
270 | G>S | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000359184 RCV000879457 rs79714279 CA8961732 |
296 | I>V | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs17659179 RCV000392622 RCV001517621 VAR_056183 CA8961720 RCV000455249 |
307 | K>N | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8961717 rs200142429 RCV002521170 RCV000343951 RCV001859930 |
309 | R>Q | Congenital microvillous atrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003418034 RCV000289007 CA8961712 RCV003137929 VAR_071651 rs753558336 |
316 | G>R | Congenital microvillous atrophy MYO5B-related condition DIAR2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001267661 VAR_087253 rs971419104 |
316 | G>V | Congenital microvillous atrophy DIAR2; uncertain significance [ClinVar, UniProt] | Yes |
ClinVar TOPMed dbSNP gnomAD UniProt |
|
RCV001897807 rs199755279 RCV002552910 |
318 | K>E | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_087254 | 336 | G>R | DIAR2; uncertain significance [UniProt] | Yes | UniProt |
|
rs776708126 RCV002248427 |
341 | Q>* | Cholestasis, progressive familial intrahepatic, 10 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_087255 | 341 | Q>del | PFIC10 [UniProt] | Yes | UniProt |
|
rs2025802093 COSM1750536 RCV001126688 |
343 | E>K | Congenital microvillous atrophy urinary_tract [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar Ensembl dbSNP |
|
rs189027956 RCV000954764 CA249357 RCV000203156 RCV001126687 |
344 | R>H | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001124020 rs755460184 |
359 | S>R | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_087256 | 363 | R>del | DIAR2 [UniProt] | Yes | UniProt |
|
CA116743 RCV000004472 RCV002512757 rs121908104 |
375 | W>* | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs190998983 COSM5854227 RCV001991860 RCV002248414 |
379 | R>C | Cholestasis, progressive familial intrahepatic, 10 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs748541233 RCV001903262 RCV002554240 |
379 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1275478557 VAR_087257 |
392 | M>T | PFIC10 and DIAR2 [UniProt] | Yes |
gnomAD UniProt |
|
RCV002562928 rs772794033 RCV001992679 |
400 | A>V | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_087258 RCV002001146 RCV002251775 COSM1388956 rs761492029 |
401 | R>C | Cholestasis, progressive familial intrahepatic, 10 Variant assessed as Somatic; MODERATE impact. large_intestine PFIC10 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD UniProt |
|
rs1555648414 CA402432721 RCV002248730 RCV003419841 RCV000497613 VAR_071652 |
401 | R>H | Congenital microvillous atrophy Variant assessed as Somatic; MODERATE impact. MYO5B-related condition DIAR2 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002248419 rs2025722754 |
408 | I>F | DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs2144281575 VAR_087259 RCV001976075 |
416 | I>N | DIAR2; uncertain significance [UniProt] | Yes |
ClinVar Ensembl dbSNP UniProt |
|
RCV003416605 rs372853673 RCV001910345 |
434 | I>V | MYO5B-related condition [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1283622290 VAR_071653 RCV001267660 |
435 | G>R | Congenital microvillous atrophy DIAR2 [ClinVar, UniProt] | Yes |
ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001991259 rs777901615 RCV003303559 |
436 | V>A | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001987194 RCV002484667 rs1315323909 |
442 | F>S | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1298330895 RCV001858399 RCV000825535 |
450 | F>missing | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2025577640 VAR_071654 |
456 | N>S | DIAR2 [UniProt] | Yes |
Ensembl UniProt |
|
RCV003774727 VAR_087260 RCV002248428 rs780547885 |
488 | I>T | Cholestasis, progressive familial intrahepatic, 10 PFIC10; uncertain significance [ClinVar, UniProt] | Yes |
ClinVar ExAC dbSNP gnomAD UniProt |
|
rs756578413 RCV001902139 RCV003247069 |
489 | D>G | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_087261 | 492 | D>G | DIAR2; uncertain significance [UniProt] | Yes | UniProt |
|
VAR_087262 rs751000651 RCV002248423 |
497 | I>F | DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS DIAR2; uncertain significance [ClinVar, UniProt] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD UniProt |
|
rs200175136 RCV002537552 RCV000902252 RCV001122952 |
498 | D>N | Congenital microvillous atrophy Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1399711940 VAR_087263 |
500 | I>T | PFIC10; uncertain significance [UniProt] | Yes |
TOPMed gnomAD UniProt |
|
RCV002248433 rs760515993 VAR_071655 |
514 | C>R | Congenital microvillous atrophy DIAR2 [ClinVar, UniProt] | Yes |
ClinVar ExAC dbSNP gnomAD UniProt |
| VAR_087264 | 517 | P>L | PFIC10; uncertain significance [UniProt] | Yes | UniProt |
| VAR_087265 | 526 | Q>del | DIAR2 [UniProt] | Yes | UniProt |
|
RCV002248420 rs1369547753 |
528 | L>F | DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002579672 RCV002030687 rs1457490762 |
531 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs374618270 RCV001823591 RCV001869817 |
531 | R>W | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_087266 rs202201947 |
535 | S>N | PFIC10; uncertain significance [UniProt] | Yes |
1000Genomes ExAC TOPMed gnomAD UniProt |
| VAR_087267 | 536 | Q>del | DIAR2 [UniProt] | Yes | UniProt |
| VAR_072814 | 538 | F>S | DIAR2; found in a compound heterozygote also carrying F-550; enterocytes carrying S-538 and F-550 display disruption of cell polarity, mislocalized apical and basolateral transporter proteins and altered distribution of endosomal/lysosomal constituents including Rab GTPases [UniProt] | Yes | UniProt |
| VAR_072815 | 550 | I>F | DIAR2; found in a compound heterozygote also carrying S-538; enterocytes carrying S-538 and F-550 display disruption of cell polarity, mislocalized apical and basolateral transporter proteins and altered distribution of endosomal/lysosomal constituents including Rab GTPases [UniProt] | Yes | UniProt |
|
RCV001907125 rs375739710 RCV002548717 |
551 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_087268 | 557 | V>L | PFIC10; uncertain significance [UniProt] | Yes | UniProt |
|
RCV000779247 rs1568045080 |
569 | R>* | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002248424 rs2144244071 |
574 | E>* | DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| VAR_087269 | 574 | E>del | DIAR2 [UniProt] | Yes | UniProt |
| VAR_087270 | 580 | L>P | DIAR2; uncertain significance [UniProt] | Yes | UniProt |
| VAR_087271 | 583 | S>N | PFIC10; uncertain significance [UniProt] | Yes | UniProt |
|
RCV002035837 rs139542376 RCV003269081 |
585 | F>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001122949 RCV002556651 rs200548362 |
596 | K>E | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs75107667 RCV002503050 RCV000968378 RCV001122948 |
598 | P>L | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201639239 RCV002552909 RCV001897806 |
603 | T>A | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001283822 rs753160864 |
610 | S>* | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1388953 RCV001122947 rs191746501 |
614 | V>I | Congenital microvillous atrophy large_intestine [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002248429 RCV003094065 rs1258766593 |
621 | M>missing | Cholestasis, progressive familial intrahepatic, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003418348 RCV002024971 RCV003250437 rs200891104 |
621 | M>V | MYO5B-related condition Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_087272 | 642 | L>P | PFIC10; uncertain significance [UniProt] | Yes | UniProt |
|
RCV000266156 CA10641603 rs886053882 |
651 | T>R | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs190575106 RCV001937914 RCV003289217 |
653 | H>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_087273 | 654 | Y>C | PFIC10 [UniProt] | Yes | UniProt |
|
rs121908105 VAR_054995 COSM4972174 RCV000004473 RCV002512758 CA116745 |
656 | R>C | Congenital microvillous atrophy Variant assessed as Somatic; MODERATE impact. DIAR2 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003555914 VAR_071656 rs121908106 CA116746 RCV000004474 |
660 | P>L | Congenital microvillous atrophy DIAR2; patient enterocytes show alterations in junctional composition, loss of polarity in basolateral and apical compartments, loss of apical brush border and formation of microvillus inclusions in cells at the villus tips; the mutation causes the motor to move slowly along F-actin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
| VAR_087274 | 672 | K>del | DIAR2 [UniProt] | Yes | UniProt |
|
rs1242133221 VAR_087275 |
686 | T>M | DIAR2; uncertain significance [UniProt] | Yes |
gnomAD UniProt |
|
RCV001733536 RCV001861041 rs1014035512 COSM2879017 |
688 | R>* | Variant assessed as Somatic; HIGH impact. Congenital microvillous atrophy [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001126583 RCV000894063 rs201670299 |
708 | R>Q | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000658807 rs192207329 RCV001126582 |
709 | V>M | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003426254 RCV001926464 rs375057436 |
738 | K>N | MYO5B-related condition [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199963863 RCV000387316 CA8961152 RCV002521169 |
741 | F>L | Congenital microvillous atrophy [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000884214 rs368212890 RCV000349234 CA8961150 |
743 | R>H | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000291936 rs886053880 CA10650936 |
744 | T>I | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_087276 | 749 | R>del | DIAR2 [UniProt] | Yes | UniProt |
|
RCV002248418 rs2144150824 |
755 | Y>missing | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs183277668 RCV000383736 COSM1216415 CA8961122 |
776 | R>Q | Congenital microvillous atrophy large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs201966606 COSM116878 RCV001123921 |
776 | R>W | Congenital microvillous atrophy ovary Variant assessed as Somatic; MODERATE impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1568025953 RCV003560892 RCV002248434 |
777 | G>missing | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001819058 RCV001123920 rs61737448 RCV000964553 |
781 | K>N | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001123919 rs756579504 |
789 | G>E | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_087277 RCV002248411 rs575729461 COSM438173 |
799 | R>W | Cholestasis, progressive familial intrahepatic, 10 Variant assessed as Somatic; MODERATE impact. breast PFIC10; uncertain significance [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD UniProt |
|
RCV002556684 RCV001123918 rs760481978 |
803 | A>T | Congenital microvillous atrophy Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs767203225 RCV001882407 RCV001123917 |
804 | R>H | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001972038 rs199854266 RCV003247188 |
821 | K>E | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_087278 rs777038090 RCV002251602 RCV002246656 RCV002248414 RCV002011779 |
824 | R>C | Cholestasis, progressive familial intrahepatic, 10 Congenital microvillous atrophy Variant assessed as Somatic; MODERATE impact. PFIC10 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD UniProt |
|
rs771274382 RCV002571233 RCV001970599 |
824 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001122832 rs1291391204 |
827 | R>G | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002070009 RCV001122831 rs569933953 |
836 | R>C | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs539079604 RCV001856621 RCV001122829 |
860 | M>K | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000323442 CA10641582 rs886053879 |
863 | K>R | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs372432070 RCV000265954 CA8961001 RCV000913224 |
864 | A>T | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_087279 | 874 | W>del | DIAR2 [UniProt] | Yes | UniProt |
|
COSM5650501 RCV003264287 RCV001933711 rs745379191 |
877 | R>H | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002070170 rs1598870169 RCV001332766 |
881 | Q>* | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs777961930 CA8960985 RCV000923121 RCV002521168 COSM1189693 RCV000358249 |
882 | R>W | lung Diarrhea with Microvillus Atrophy Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002070497 rs199782770 RCV001128534 RCV002556810 |
901 | R>Q | Congenital microvillous atrophy Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs370548179 RCV001856677 RCV001128533 |
911 | R>C | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_056184 RCV000261929 RCV001521396 CA8960961 rs2298624 |
918 | R>H | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_087280 | 934 | I>S | PFIC10; uncertain significance [UniProt] | Yes | UniProt |
|
CA10650929 COSM3526175 RCV000354352 rs886053878 |
935 | D>N | Congenital microvillous atrophy Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs556141097 RCV001128532 RCV001873516 |
961 | R>W | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002521167 CA8960890 RCV000351010 RCV001326868 rs371584389 |
983 | E>Q | Congenital microvillous atrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002556753 RCV001126473 rs747276755 |
989 | R>H | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003416238 RCV002290691 RCV002546953 rs755870645 RCV001342221 COSM1216409 |
999 | R>C | Cholestasis, progressive familial intrahepatic, 10 Variant assessed as Somatic; MODERATE impact. large_intestine MYO5B-related condition Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000916574 rs61737447 RCV001126472 |
1001 | I>F | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8960872 rs201592338 RCV000312565 RCV001450205 |
1011 | D>N | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199498650 RCV001924455 RCV002560493 |
1016 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_087281 | 1016 | R>del | DIAR2 and PFIC10 [UniProt] | Yes | UniProt |
|
RCV000347080 RCV001778916 rs397841722 RCV000455510 CA8960813 RCV001520707 |
1055 | L>missing | Congenital microvillous atrophy Diarrhea with Microvillus Atrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
| VAR_087282 | 1064 | R>del | DIAR2 [UniProt] | Yes | UniProt |
|
RCV002556752 RCV001126471 rs771709366 |
1066 | R>W | Congenital microvillous atrophy Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_087283 | 1079 | Q>H | PFIC10; uncertain significance [UniProt] | Yes | UniProt |
|
RCV002556751 COSM1680358 RCV001126470 rs768704859 |
1082 | D>N | Congenital microvillous atrophy large_intestine [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs777155836 RCV003264077 RCV001754508 |
1091 | I>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001123824 rs1364064267 |
1140 | A>T | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001123823 RCV001862901 rs775981130 |
1154 | R>W | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201109748 RCV000378692 RCV001514741 CA8960708 |
1163 | L>R | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_087284 | 1172 | Q>del | DIAR2 [UniProt] | Yes | UniProt |
|
RCV002070006 RCV001122737 rs201651982 |
1213 | K>M | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001760088 rs201194311 RCV001122735 RCV003413927 |
1216 | L>R | Congenital microvillous atrophy MYO5B-related condition [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8960618 RCV002523045 RCV000283150 rs189721715 RCV001859929 |
1233 | S>I | Congenital microvillous atrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002051189 RCV002478104 rs530758620 |
1246 | Q>H | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000317515 rs886053877 CA10647718 |
1297 | H>Y | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs200181910 RCV001128442 |
1298 | V>F | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA10641576 rs886053876 RCV000259991 |
1306 | A>V | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs774837934 RCV000370867 CA8960540 RCV001859928 |
1307 | Y>C | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8960498 RCV001521395 RCV000454937 RCV000367590 rs1942418 |
1321 | G>E | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs779188563 RCV002248422 |
1343 | L>P | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001128441 rs755338257 RCV001873515 |
1345 | A>T | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2024227322 VAR_087285 |
1361 | L>P | DIAR2; uncertain significance [UniProt] | Yes |
TOPMed UniProt |
|
rs1264355256 RCV002226583 |
1364 | Q>* | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs765059688 CA8960458 RCV000310476 RCV001859926 |
1375 | Q>E | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_087286 | 1375 | Q>del | PFIC10 [UniProt] | Yes | UniProt |
|
rs145598498 RCV001513251 CA8960456 RCV000403788 |
1382 | T>M | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001126389 RCV001856654 COSM220669 rs199722479 |
1401 | R>Q | Congenital microvillous atrophy Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001126388 RCV000730235 rs76213287 |
1414 | E>K | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2144048741 RCV002248431 |
1456 | Q>* | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| VAR_087287 | 1467 | Q>del | DIAR2 [UniProt] | Yes | UniProt |
|
rs201914259 RCV001859925 CA8960370 RCV000391647 RCV002521166 |
1482 | R>Q | Congenital microvillous atrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000400949 CA10641563 rs886053875 |
1492 | M>V | Diarrhea with Microvillus Atrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000883392 rs139632666 RCV002501403 RCV001123725 |
1494 | S>L | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2024085527 RCV001123724 |
1495 | G>V | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs751931284 RCV001123723 RCV002556680 |
1505 | L>F | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001764075 rs763029595 RCV002540568 |
1555 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_071657 | 1556 | L>R | DIAR2 [UniProt] | Yes | UniProt |
|
CA8960261 RCV000949024 RCV000337830 rs186428920 |
1558 | H>Q | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001850744 RCV000373685 CA8960237 rs199737949 |
1568 | G>D | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs762039116 RCV000985166 RCV000760532 |
1589 | E>* | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_087288 | 1600 | Q>del | DIAR2 [UniProt] | Yes | UniProt |
|
CA8960216 rs746297387 RCV003765894 RCV000316736 |
1612 | V>M | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000578184 rs1555793199 RCV003698797 CA658684183 |
1636 | T>missing | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001856617 rs201466306 RCV002556648 RCV001122633 |
1652 | Y>N | Congenital microvillous atrophy Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM6148537 RCV003407861 rs75537257 RCV001944556 COSM1522914 |
1657 | I>V | lung Variant assessed as Somatic; MODERATE impact. MYO5B-related condition [Cosmic, NCI-TCGA, ClinVar] | Yes |
cosmic curated NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001859924 CA8960163 RCV000388734 RCV002523044 rs200540643 |
1681 | V>L | Congenital microvillous atrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs9950781 RCV000331699 RCV001510643 CA8960161 |
1683 | K>R | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000274225 RCV001511308 VAR_071658 rs112417235 CA8960157 |
1688 | M>V | Congenital microvillous atrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002548880 RCV002041153 rs200556602 |
1707 | S>N | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs373990722 RCV001122632 RCV002556647 |
1733 | A>T | Congenital microvillous atrophy Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1388942 rs200931302 RCV001122631 RCV002556646 |
1757 | A>T | Congenital microvillous atrophy Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_087289 | 1795 | R>del | DIAR2 [UniProt] | Yes | UniProt |
|
rs201080553 RCV000762227 RCV001128351 |
1804 | R>P | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001128350 rs200172993 RCV001856675 |
1817 | M>V | Congenital microvillous atrophy [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| rs1454211500 | 2 | S>L | No | gnomAD | |
| rs1454211500 | 2 | S>W | No | gnomAD | |
| rs2033279152 | 3 | V>A | No | TOPMed | |
| rs2144370158 | 5 | E>G | No | Ensembl | |
| rs1350666352 | 5 | E>K | No | gnomAD | |
| rs1427502326 | 6 | L>F | No |
TOPMed gnomAD |
|
| rs1447784570 | 6 | L>P | No | gnomAD | |
| rs780718239 | 7 | Y>H | No |
ExAC gnomAD |
|
|
RCV001929119 rs1161647893 |
8 | S>C | No |
ClinVar dbSNP gnomAD |
|
| rs1033160188 | 8 | S>T | No |
TOPMed gnomAD |
|
| rs757926386 | 9 | Q>L | No |
ExAC gnomAD |
|
| rs757926386 | 9 | Q>P | No |
ExAC gnomAD |
|
| rs757926386 | 9 | Q>R | No |
ExAC gnomAD |
|
| rs2030521077 | 10 | C>Y | No | gnomAD | |
| rs1440299860 | 11 | T>K | No | gnomAD | |
|
RCV001938174 rs2144417753 |
11 | T>P | No |
ClinVar Ensembl dbSNP |
|
| rs1319258851 | 12 | R>K | No | TOPMed | |
| rs1276339588 | 12 | R>S | No | gnomAD | |
| rs1198544354 | 13 | V>A | No |
TOPMed gnomAD |
|
| rs556931697 | 13 | V>F | No | gnomAD | |
| rs1011785803 | 14 | W>* | No | TOPMed | |
| rs759325127 | 17 | D>E | No |
ExAC gnomAD |
|
| rs769636819 | 17 | D>N | No |
ExAC gnomAD |
|
| rs1446291952 | 20 | E>D | No | gnomAD | |
| rs1283935136 | 20 | E>G | No | gnomAD | |
| rs1337702122 | 21 | V>L | No | gnomAD | |
| rs776347920 | 23 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs776347920 | 23 | R>G | No |
ExAC TOPMed gnomAD |
|
|
RCV001966225 rs202129020 |
23 | R>H | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1407069619 | 24 | S>* | No |
TOPMed gnomAD |
|
|
rs1407069619 RCV001944383 |
24 | S>L | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1477484243 | 26 | E>G | No |
TOPMed gnomAD |
|
| rs1406967601 | 28 | T>A | No | gnomAD | |
| COSM1258568 | 29 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777375439 | 30 | D>N | No |
ExAC gnomAD |
|
|
rs527660873 RCV001988336 |
31 | Y>C | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| COSM3526212 | 33 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2030518779 | 34 | G>A | No | TOPMed | |
| rs1016827282 | 34 | G>R | No | Ensembl | |
| rs747885444 | 35 | D>E | No |
ExAC TOPMed gnomAD |
|
| COSM709415 | 36 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1182412707 | 36 | K>Q | No | gnomAD | |
| rs1466051697 | 37 | S>N | No | TOPMed | |
|
rs778701332 RCV001964919 |
38 | L>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1248926487 | 39 | Q>* | No |
TOPMed gnomAD |
|
| rs1223172485 | 39 | Q>R | No | gnomAD | |
|
RCV001870037 rs1322782610 |
41 | R>K | No |
ClinVar dbSNP gnomAD |
|
|
rs369340100 RCV001988154 |
43 | E>Q | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1289412904 | 44 | D>E | No | gnomAD | |
| rs1331652720 | 44 | D>V | No | gnomAD | |
| rs754267236 | 44 | D>Y | No | ExAC | |
| rs2030517681 | 45 | E>Q | No | Ensembl | |
| rs756670641 | 46 | T>K | No |
ExAC gnomAD |
|
|
RCV002015673 rs756670641 |
46 | T>M | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1359561556 | 49 | E>G | No |
TOPMed gnomAD |
|
| rs2029975070 | 50 | Y>F | No | TOPMed | |
| COSM3526211 | 50 | Y>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1304419707 | 51 | P>S | No |
TOPMed gnomAD |
|
| rs1358247866 | 52 | I>T | No |
TOPMed gnomAD |
|
|
rs761877616 RCV002017500 |
52 | I>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1215539460 | 53 | D>G | No | TOPMed | |
| rs973716394 | 53 | D>N | No |
TOPMed gnomAD |
|
| rs375051142 | 54 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs774999728 | 55 | Q>* | No |
ExAC gnomAD |
|
| rs774999728 | 55 | Q>K | No |
ExAC gnomAD |
|
|
RCV001906373 COSM3970575 rs765665080 |
56 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs138743872 RCV001363076 |
56 | R>H | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs747567561 | 58 | Q>* | No |
ExAC gnomAD |
|
| rs747567561 | 58 | Q>E | No |
ExAC gnomAD |
|
| rs267605198 | 58 | Q>H | No | Ensembl | |
| rs2144390290 | 58 | Q>R | No | 1000Genomes | |
|
rs200086960 RCV000926140 |
61 | F>L | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs573969616 | 63 | R>Q | No |
ExAC gnomAD |
|
| rs748187424 | 63 | R>W | No |
ExAC TOPMed gnomAD |
|
|
rs117920737 RCV002190306 |
66 | D>A | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs117920737 | 66 | D>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs755183341 | 66 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs755183341 | 66 | D>N | No |
ExAC TOPMed gnomAD |
|
|
RCV001899558 rs755183341 |
66 | D>Y | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs757104329 | 67 | I>M | No |
ExAC gnomAD |
|
| rs2029972582 | 67 | I>T | No | Ensembl | |
| rs780898847 | 67 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs533184820 | 70 | G>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs533184820 | 70 | G>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 71 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762928118 | 74 | L>M | No |
ExAC gnomAD |
|
| rs752172497 | 75 | T>I | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 76 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs1598972786 |
79 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
RCV001768461 rs1218772348 COSM3526210 |
80 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs767154177 | 81 | H>N | No |
TOPMed gnomAD |
|
|
rs767154177 COSM1324569 |
81 | H>Y | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM988809 rs371138736 |
85 | V>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA gnomAD |
| rs2029971322 | 87 | H>L | No | TOPMed | |
| rs771346749 | 87 | H>Y | No |
ExAC gnomAD |
|
| rs1203146323 | 89 | L>S | No |
TOPMed gnomAD |
|
| TCGA novel | 89 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs377476169 | 90 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs2144390099 | 93 | F>L | No | Ensembl | |
| rs1350762694 | 94 | L>V | No | gnomAD | |
| rs2029970171 | 95 | E>A | No | Ensembl | |
| rs2029970105 | 95 | E>D | No | TOPMed | |
| rs2029970038 | 96 | S>T | No | Ensembl | |
| rs544362324 | 97 | N>S | No |
1000Genomes ExAC gnomAD |
|
| rs544362324 | 97 | N>T | No |
1000Genomes ExAC gnomAD |
|
| rs2029969869 | 98 | H>D | No | Ensembl | |
| rs2029969790 | 98 | H>Q | No | Ensembl | |
| rs761593493 | 99 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs1250699836 | 100 | Y>C | No | gnomAD | |
| rs1294631057 | 101 | T>A | No | gnomAD | |
| rs1568081767 | 103 | C>R | No | Ensembl | |
| COSM6083664 | 104 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs758190724 | 105 | I>V | No |
ExAC TOPMed gnomAD |
|
|
COSM4705014 rs754688861 RCV001864300 |
106 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs754688861 | 106 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs121908103 | 108 | V>A | No | 1000Genomes | |
| rs754808459 | 109 | A>G | No |
ExAC gnomAD |
|
| COSM3526207 | 112 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1436551855 | 112 | P>T | No | gnomAD | |
| rs1404538497 | 117 | P>R | No | TOPMed | |
| rs984900775 | 118 | I>M | No | TOPMed | |
| rs983089507 | 118 | I>N | No |
TOPMed gnomAD |
|
| rs983089507 | 118 | I>T | No |
TOPMed gnomAD |
|
| rs1172011674 | 122 | D>E | No | gnomAD | |
| rs779586515 | 123 | V>I | No |
ExAC gnomAD |
|
| rs1392172787 | 124 | I>M | No | gnomAD | |
| rs750051198 | 125 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs2026454575 | 125 | Y>H | No | Ensembl | |
| rs1241251730 | 126 | T>N | No | gnomAD | |
| rs774511689 | 128 | S>G | No |
ExAC gnomAD |
|
| rs868156584 | 129 | G>D | No | gnomAD | |
| rs1018909182 | 130 | Q>H | No | Ensembl | |
|
RCV001943364 rs1209784860 |
132 | M>L | No |
ClinVar dbSNP gnomAD |
|
| rs2026454187 | 132 | M>T | No | gnomAD | |
| rs1209784860 | 132 | M>V | No | gnomAD | |
| COSM228205 | 133 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1640993 | 133 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2026454163 | 134 | D>N | No | TOPMed | |
| rs2026454141 | 135 | M>L | No | gnomAD | |
| rs2026454101 | 136 | D>A | No | TOPMed | |
| COSM3692139 | 136 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764674526 | 137 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1229761410 | 138 | H>R | No | gnomAD | |
| rs372120095 | 138 | H>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs1268717399 | 139 | I>V | No |
TOPMed gnomAD |
|
| rs1341504152 | 141 | A>T | No | gnomAD | |
| rs367890531 | 141 | A>V | No |
ESP TOPMed gnomAD |
|
| rs746141458 | 144 | E>G | No |
ExAC TOPMed gnomAD |
|
|
rs2026453749 COSM3526204 |
144 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs1372458097 | 145 | E>K | No | gnomAD | |
| rs750298539 | 146 | A>S | No | gnomAD | |
| rs750298539 | 146 | A>T | No | gnomAD | |
| rs868303097 | 149 | Q>L | No | Ensembl | |
| rs868303097 | 149 | Q>R | No | Ensembl | |
| rs1308733365 | 150 | M>I | No | gnomAD | |
| TCGA novel | 151 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1598969973 | 151 | A>V | No |
TOPMed gnomAD |
|
|
RCV002210869 rs185864408 |
152 | R>G | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs768311844 | 153 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs375703894 | 153 | D>H | No |
ESP TOPMed gnomAD |
|
| rs768311844 | 153 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs1331419130 | 155 | K>E | No |
TOPMed gnomAD |
|
| rs1598943512 | 155 | K>N | No | Ensembl | |
| rs993447719 | 158 | S>Y | No |
TOPMed gnomAD |
|
| rs1339641294 | 159 | I>M | No |
TOPMed gnomAD |
|
| rs2026045623 | 159 | I>V | No | Ensembl | |
| rs1045652857 | 160 | I>V | No |
TOPMed gnomAD |
|
| rs2026045528 | 161 | V>I | No | TOPMed | |
| rs1276738937 | 162 | S>I | No |
TOPMed gnomAD |
|
| rs1276738937 | 162 | S>N | No |
TOPMed gnomAD |
|
|
RCV000996686 rs1598943476 |
164 | E>G | No |
ClinVar Ensembl dbSNP |
|
| rs2026045392 | 166 | G>A | No | Ensembl | |
|
RCV002040275 rs1438462255 |
167 | A>S | No |
ClinVar dbSNP gnomAD |
|
| rs1459666103 | 170 | T>M | No |
TOPMed gnomAD |
|
|
RCV001893893 rs1159400084 |
171 | V>L | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs745395686 | 173 | A>V | No |
ExAC gnomAD |
|
| rs2026045134 | 175 | Y>D | No | TOPMed | |
| rs1405097745 | 176 | A>T | No | gnomAD | |
| rs200687310 | 177 | M>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs756963372 | 177 | M>T | No |
ExAC gnomAD |
|
| rs2026045033 | 177 | M>V | No | TOPMed | |
| rs778249198 | 178 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs567083385 | 178 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1438763418 | 179 | Y>F | No | Ensembl | |
| rs1598943421 | 182 | T>P | No | Ensembl | |
| rs760065886 | 183 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs1315378123 | 183 | V>F | No |
TOPMed gnomAD |
|
|
RCV001909185 rs1315378123 |
183 | V>I | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs924309788 | 184 | G>D | No |
TOPMed gnomAD |
|
| rs1219892326 | 184 | G>S | No | gnomAD | |
| rs753977426 | 186 | S>* | No |
ExAC TOPMed gnomAD |
|
|
rs753977426 RCV001982528 |
186 | S>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1598943395 | 187 | A>T | No | Ensembl | |
| rs2026044426 | 188 | S>G | No | Ensembl | |
| rs1367065451 | 188 | S>N | No |
TOPMed gnomAD |
|
| rs373272788 | 190 | T>A | No |
ESP TOPMed |
|
| rs1289250740 | 191 | N>D | No | gnomAD | |
| rs977113309 | 191 | N>S | No | TOPMed | |
| COSM6083665 | 193 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1343072949 | 193 | E>K | No | gnomAD | |
| rs761003896 | 195 | K>E | No |
ExAC gnomAD |
|
|
rs773290007 RCV001875454 |
195 | K>M | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs768559015 | 195 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1598943370 | 196 | V>G | No | Ensembl | |
| rs1172285303 | 197 | L>P | No | gnomAD | |
| rs1172285303 | 197 | L>Q | No | gnomAD | |
| rs779552947 | 198 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs2026043986 | 200 | S>G | No | gnomAD | |
| rs1417473364 | 201 | P>A | No |
TOPMed gnomAD |
|
| COSM3526203 | 201 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs867785853 RCV002037272 |
202 | I>V | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2026043835 | 203 | M>I | No |
TOPMed gnomAD |
|
| rs769744221 | 203 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs377677072 | 203 | M>V | No | Ensembl | |
| rs547195799 | 204 | E>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1407763690 | 206 | I>V | No |
TOPMed gnomAD |
|
| COSM988808 | 207 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1598936785 | 211 | T>P | No | Ensembl | |
| rs1598936782 | 212 | T>A | No | Ensembl | |
| rs2025943359 | 212 | T>I | No | gnomAD | |
| rs1598936782 | 212 | T>P | No | Ensembl | |
| rs371567612 | 213 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs557316656 | 213 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs371567612 | 213 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs747766166 | 214 | N>S | No |
ExAC gnomAD |
|
| COSM988806 | 215 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1232310088 | 215 | D>Y | No |
TOPMed gnomAD |
|
|
rs755378266 COSM5893990 RCV001579951 |
219 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| rs1195919305 | 221 | G>A | No |
TOPMed gnomAD |
|
| COSM988805 | 221 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1274282112 | 223 | Y>C | No | gnomAD | |
| rs749868684 | 224 | I>M | No |
ExAC gnomAD |
|
| COSM3526202 | 225 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1480360 | 225 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780426659 | 226 | I>N | No |
ExAC gnomAD |
|
| rs1483053084 | 227 | G>V | No |
TOPMed gnomAD |
|
| rs1005676876 | 229 | D>N | No | Ensembl | |
| rs756585940 | 229 | D>V | No |
ExAC gnomAD |
|
| rs1180455525 | 230 | K>E | No | TOPMed | |
| rs750490159 | 230 | K>R | No |
ExAC gnomAD |
|
| rs369377048 | 231 | R>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs369377048 | 231 | R>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs369377048 | 231 | R>T | No |
ESP ExAC TOPMed gnomAD |
|
| COSM988804 | 232 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs981691819 | 233 | H>Y | No | Ensembl | |
| rs1033882250 | 234 | I>V | No |
TOPMed gnomAD |
|
| rs151001572 | 235 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs751760150 | 235 | I>V | No |
ExAC gnomAD |
|
|
rs753603057 RCV001992829 |
236 | G>E | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM988803 RCV002047834 rs200010695 |
236 | G>R | endometrium [Cosmic] | No |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| rs766245374 | 237 | A>S | No |
ExAC TOPMed gnomAD |
|
|
RCV001896878 rs766245374 |
237 | A>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs772882127 | 239 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs1277183245 | 239 | M>V | No | gnomAD | |
| rs878920256 | 240 | R>K | No | Ensembl | |
| COSM988802 | 240 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1568062035 | 242 | Y>C | No | Ensembl | |
| rs771681382 | 243 | L>H | No |
ExAC gnomAD |
|
| rs771681382 | 243 | L>P | No |
ExAC gnomAD |
|
| rs1598936688 | 245 | E>G | No | Ensembl | |
| rs2144312663 | 247 | S>T | No | Ensembl | |
| rs2025941666 | 250 | V>I | No | TOPMed | |
| rs1179788756 | 251 | F>L | No | gnomAD | |
| rs774139620 | 252 | Q>* | No |
ExAC gnomAD |
|
| rs774139620 | 252 | Q>K | No |
ExAC gnomAD |
|
| rs768283128 | 252 | Q>R | No |
ExAC gnomAD |
|
| rs2025919154 | 253 | A>V | No | TOPMed | |
| rs777784873 | 254 | D>V | No |
ExAC gnomAD |
|
| rs1326272713 | 255 | D>E | No |
TOPMed gnomAD |
|
|
rs376607398 RCV001903809 |
255 | D>G | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs376607398 | 255 | D>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs538440820 | 256 | E>D | No |
1000Genomes TOPMed gnomAD |
|
| rs752937470 | 256 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs779766463 | 258 | N>S | No |
ExAC gnomAD |
|
| rs2025918627 | 260 | H>Y | No | TOPMed | |
| rs750172419 | 261 | I>V | No |
ExAC gnomAD |
|
| TCGA novel | 262 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs555910353 | 263 | Y>C | No |
1000Genomes ExAC gnomAD |
|
| rs2144309825 | 263 | Y>H | No | Ensembl | |
| rs1372326879 | 264 | Q>E | No |
TOPMed gnomAD |
|
| rs1190554148 | 265 | L>V | No | gnomAD | |
| rs757208688 | 268 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs757208688 | 268 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs751144095 | 268 | A>V | No |
1000Genomes ExAC gnomAD |
|
| rs763627060 | 269 | A>S | No |
ExAC gnomAD |
|
| rs1047868917 | 270 | G>C | No |
TOPMed gnomAD |
|
| rs2025917806 | 270 | G>D | No | Ensembl | |
| rs775193741 | 272 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1389349049 | 273 | E>K | No | TOPMed | |
| rs377372057 | 277 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs2025854233 | 281 | S>G | No | gnomAD | |
| rs2025854179 | 281 | S>N | No | TOPMed | |
| rs573551022 | 281 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs781179271 | 284 | D>E | No |
ExAC gnomAD |
|
|
rs2144300329 RCV002010768 |
284 | D>G | No |
ClinVar Ensembl dbSNP |
|
| rs1158642652 | 284 | D>Y | No | gnomAD | |
| rs1196124377 | 286 | F>L | No | gnomAD | |
| rs1231658327 | 286 | F>L | No | gnomAD | |
| rs2025853986 | 287 | Y>C | No | Ensembl | |
| TCGA novel | 287 | Y>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757104392 | 288 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1252813993 | 288 | T>I | No | gnomAD | |
| rs1173680418 | 289 | S>A | No | TOPMed | |
| rs1318990685 | 290 | Q>R | No |
TOPMed gnomAD |
|
| rs1465967428 | 291 | G>* | No |
TOPMed gnomAD |
|
| COSM6148532 | 291 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3526200 | 291 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2025853757 | 293 | D>V | No | TOPMed | |
| rs1348709333 | 294 | T>N | No | gnomAD | |
|
RCV001937558 rs2144300272 |
295 | S>F | No |
ClinVar Ensembl dbSNP |
|
| rs79714279 | 296 | I>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1237306047 | 296 | I>N | No | gnomAD | |
|
COSM988801 rs754668788 |
297 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs868716202 RCV001951885 |
298 | G>C | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs144305793 | 298 | G>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs868716202 | 298 | G>S | No |
TOPMed gnomAD |
|
| rs144305793 | 298 | G>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs369217445 | 299 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM231386 rs762183636 RCV001928769 |
301 | D>N | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs768831904 | 304 | D>E | No |
ExAC gnomAD |
|
|
RCV002003765 rs2144300176 |
304 | D>V | No |
ClinVar Ensembl dbSNP |
|
| rs763323837 | 307 | K>E | No |
ExAC gnomAD |
|
| rs368787390 | 309 | R>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs368787390 | 309 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs200142429 | 309 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1193937277 | 311 | A>D | No |
TOPMed gnomAD |
|
| rs1193937277 | 311 | A>G | No |
TOPMed gnomAD |
|
| rs182144565 | 313 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs748007470 RCV002006379 |
313 | T>I | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs748007470 | 313 | T>K | No |
ExAC TOPMed gnomAD |
|
|
RCV002042385 rs2144300091 |
314 | L>H | No |
ClinVar Ensembl dbSNP |
|
|
rs2025852675 RCV002038127 |
314 | L>I | No |
ClinVar dbSNP gnomAD |
|
| rs2025852603 | 315 | L>I | No | TOPMed | |
| rs971419104 | 316 | G>A | No |
TOPMed gnomAD |
|
| rs971419104 | 316 | G>E | No |
TOPMed gnomAD |
|
| rs2025803025 | 317 | V>M | No | Ensembl | |
| rs751904568 | 318 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs2025802877 | 319 | E>K | No | TOPMed | |
| TCGA novel | 321 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1440378944 | 322 | Q>E | No | gnomAD | |
| rs764712007 | 323 | M>I | No |
ExAC gnomAD |
|
| rs1251603538 | 324 | S>N | No |
TOPMed gnomAD |
|
| rs1464842493 | 325 | I>F | No |
TOPMed gnomAD |
|
| rs1328612940 | 327 | K>N | No |
TOPMed gnomAD |
|
| rs1203579174 | 328 | I>V | No | gnomAD | |
| rs1598928778 | 329 | I>T | No | Ensembl | |
| rs2025802467 | 334 | H>R | No | gnomAD | |
| rs1233571014 | 337 | S>G | No | gnomAD | |
| rs1354246374 | 337 | S>N | No |
TOPMed gnomAD |
|
| rs2025802331 | 338 | V>M | No | gnomAD | |
| rs1393606930 | 339 | A>T | No | gnomAD | |
| rs765201776 | 339 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2025802115 | 342 | A>G | No | Ensembl | |
|
RCV001934707 rs777672829 |
344 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs189027956 | 344 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs777672829 | 344 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs768607625 | 345 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1461138754 | 345 | D>G | No | gnomAD | |
| rs2025801937 | 345 | D>N | No | Ensembl | |
| rs749189492 | 346 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs749189492 | 346 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs775027641 | 347 | D>V | No |
ExAC gnomAD |
|
| rs1251141244 | 348 | S>A | No |
TOPMed gnomAD |
|
| rs1456256202 | 350 | S>G | No | gnomAD | |
| rs745598808 | 351 | I>L | No |
ExAC gnomAD |
|
| rs745598808 | 351 | I>V | No |
ExAC gnomAD |
|
| rs1420396626 | 352 | S>T | No |
TOPMed gnomAD |
|
| COSM3526197 | 353 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1296460023 | 353 | P>S | No |
TOPMed gnomAD |
|
| rs2025725173 | 354 | Q>E | No | TOPMed | |
| rs772554828 | 357 | Y>H | No |
ExAC gnomAD |
|
| rs772554828 | 357 | Y>N | No |
ExAC gnomAD |
|
| rs748735483 | 358 | L>V | No |
ExAC TOPMed gnomAD |
|
| COSM3891101 | 359 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753891465 | 360 | N>S | No |
ExAC gnomAD |
|
|
rs1239739885 RCV001960755 |
363 | R>* | No |
ClinVar TOPMed dbSNP |
|
| TCGA novel | 363 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs369568383 | 363 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs2025724877 | 365 | L>V | No | TOPMed | |
| rs2144281964 | 366 | G>V | No | Ensembl | |
| rs750627516 | 367 | V>L | No |
ExAC gnomAD |
|
| rs762740043 | 368 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs752477815 | 369 | H>N | No |
ExAC gnomAD |
|
|
rs2144281939 RCV001887680 |
372 | M>I | No |
ClinVar Ensembl dbSNP |
|
| rs765109506 | 372 | M>L | No |
ExAC gnomAD |
|
| rs1343286903 | 373 | E>K | No | gnomAD | |
| rs2144281933 | 373 | E>V | No | Ensembl | |
| rs1272311574 | 374 | H>N | No | gnomAD | |
| rs759477548 | 374 | H>R | No |
ExAC gnomAD |
|
| rs965419129 | 375 | W>* | No | gnomAD | |
| rs965419129 | 375 | W>S | No | gnomAD | |
| rs772997025 | 377 | C>Y | No |
ExAC TOPMed gnomAD |
|
| COSM3796437 | 378 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2025724345 | 380 | K>M | No | TOPMed | |
| rs2025724319 | 380 | K>N | No | Ensembl | |
| rs779292358 | 381 | L>V | No |
ExAC gnomAD |
|
| rs1598923772 | 382 | V>G | No | Ensembl | |
| rs1228129316 | 383 | T>I | No |
TOPMed gnomAD |
|
|
rs200796610 RCV000922481 |
385 | S>L | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs200796610 | 385 | S>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs752945591 | 386 | E>D | No |
ExAC gnomAD |
|
| rs2025724072 | 388 | Y>F | No | Ensembl | |
|
RCV001914925 rs781404633 |
389 | V>F | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs781404633 | 389 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs757422021 | 390 | K>Q | No |
ExAC gnomAD |
|
|
RCV001972070 rs752466795 |
390 | K>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs752466795 | 390 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs2025723875 | 391 | T>A | No | Ensembl | |
| rs1434729915 | 392 | M>V | No |
TOPMed gnomAD |
|
| rs765050884 | 393 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs765050884 | 393 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs2025723634 | 394 | L>Q | No | TOPMed | |
| rs2025723560 | 395 | Q>K | No |
TOPMed gnomAD |
|
| rs759806102 | 396 | Q>L | No | Ensembl | |
|
RCV001360738 rs759806102 |
396 | Q>P | No |
ClinVar Ensembl dbSNP |
|
|
COSM1303765 rs2025723436 |
398 | I>M | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs760268635 | 398 | I>T | No |
ExAC gnomAD |
|
| rs2025723395 | 399 | N>D | No | TOPMed | |
| rs776630285 | 399 | N>S | No |
TOPMed gnomAD |
|
| rs1239607853 | 400 | A>T | No | TOPMed | |
| rs11082795 | 402 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs774623997 | 402 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs529555831 | 403 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs775978762 | 403 | A>V | No |
ExAC gnomAD |
|
| rs770226793 | 404 | L>V | No |
ExAC gnomAD |
|
|
COSM438175 rs745968678 |
405 | A>V | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs757511853 | 406 | K>* | No |
ExAC gnomAD |
|
|
rs1425595680 RCV001891910 |
407 | H>L | No |
ClinVar dbSNP gnomAD |
|
| rs2025722754 | 408 | I>V | No | TOPMed | |
| rs747234131 | 409 | Y>* | No |
ExAC gnomAD |
|
| rs778632789 | 410 | A>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 410 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs951156993 | 410 | A>V | No |
TOPMed gnomAD |
|
| rs2025722501 | 414 | G>D | No | TOPMed | |
|
RCV001898023 rs200773306 |
414 | G>S | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2025722431 | 415 | W>C | No | gnomAD | |
| rs756071340 | 415 | W>L | No |
ExAC TOPMed gnomAD |
|
| rs756071340 | 415 | W>S | No |
ExAC TOPMed gnomAD |
|
| rs2025722391 | 417 | V>M | No | Ensembl | |
| rs145905243 | 418 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs749988696 COSM988797 |
418 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC gnomAD |
| rs969240814 | 418 | E>K | No |
TOPMed gnomAD |
|
| rs969240814 | 418 | E>Q | No |
TOPMed gnomAD |
|
| rs749988696 | 418 | E>V | No |
ExAC gnomAD |
|
| TCGA novel | 419 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2025722251 | 420 | I>T | No | TOPMed | |
| rs2144281541 | 420 | I>V | No | Ensembl | |
|
rs202093525 RCV002045460 |
421 | N>K | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs201374776 | 421 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs763585606 | 422 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs763387978 | 423 | A>S | No |
ExAC gnomAD |
|
| rs1322548036 | 423 | A>V | No | gnomAD | |
| TCGA novel | 424 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2025722121 | 424 | L>P | No | gnomAD | |
| rs1048454397 | 425 | H>R | No | Ensembl | |
| rs1403094516 | 425 | H>Y | No | gnomAD | |
| rs1159600004 | 426 | T>A | No | gnomAD | |
| rs2144281460 | 430 | Q>K | No | Ensembl | |
| rs2025721902 | 430 | Q>P | No | TOPMed | |
| rs896309141 | 431 | H>P | No | TOPMed | |
|
TCGA novel rs2025721879 |
431 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs770114157 | 432 | S>Y | No |
ExAC gnomAD |
|
| rs372853673 | 434 | I>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs776785214 | 434 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs578050757 | 435 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
| rs2025721583 | 436 | V>F | No | TOPMed | |
| rs758462557 | 438 | D>N | No |
ExAC gnomAD |
|
| rs2025721470 | 440 | Y>C | No | TOPMed | |
| rs1781014054 | 444 | T>I | No | Ensembl | |
|
RCV001991774 rs2144261521 |
445 | F>C | No |
ClinVar Ensembl dbSNP |
|
| rs757051892 | 445 | F>I | No |
ExAC TOPMed gnomAD |
|
| rs757051892 | 445 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs757051892 | 445 | F>V | No |
ExAC TOPMed gnomAD |
|
| rs1174405995 | 446 | E>* | No | gnomAD | |
| rs1420481685 | 447 | V>A | No |
TOPMed gnomAD |
|
| rs751194063 | 447 | V>I | No |
ExAC gnomAD |
|
| rs1341581433 | 451 | E>K | No |
TOPMed gnomAD |
|
| rs1476865973 | 452 | Q>* | No | gnomAD | |
| rs1568049602 | 452 | Q>R | No | TOPMed | |
| rs2025577696 | 454 | C>F | No | TOPMed | |
| rs1189925980 | 455 | I>V | No | gnomAD | |
| rs1266136191 | 457 | Y>C | No | gnomAD | |
| rs1207737174 | 459 | N>S | No | gnomAD | |
| rs540336174 | 463 | Q>R | No | 1000Genomes | |
| rs1309108123 | 464 | Q>H | No | gnomAD | |
| rs1280712507 | 466 | F>L | No |
TOPMed gnomAD |
|
| rs368289471 | 468 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs770787160 | 469 | H>N | No | ExAC | |
| rs746751300 | 469 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs1598914754 | 475 | Q>K | No | Ensembl | |
| rs772877259 | 477 | E>* | No |
ExAC TOPMed gnomAD |
|
|
RCV002025493 rs772877259 |
477 | E>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1437656614 | 478 | Y>C | No | gnomAD | |
|
rs778573108 RCV001867563 |
479 | M>L | No |
ExAC TOPMed gnomAD ClinVar dbSNP |
|
| rs778573108 | 479 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs754441353 | 480 | K>* | No |
ExAC gnomAD |
|
| rs1487861727 | 480 | K>N | No | gnomAD | |
| rs2025569344 | 482 | Q>K | No | Ensembl | |
| rs1263197105 | 483 | I>M | No | gnomAD | |
| rs375592664 | 485 | W>* | No |
ESP ExAC gnomAD |
|
| TCGA novel | 485 | W>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772618483 | 486 | T>S | No | Ensembl | |
| rs1568049290 | 487 | L>V | No | Ensembl | |
| COSM3526194 | 489 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1388955 | 489 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1309243723 | 491 | Y>C | No | gnomAD | |
| rs1238420912 | 492 | D>Y | No |
TOPMed gnomAD |
|
| rs1568049269 | 494 | Q>R | No | Ensembl | |
| rs1302218035 | 495 | P>L | No |
TOPMed gnomAD |
|
| rs751000651 | 497 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs200175136 | 498 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs751792611 | 500 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs764434204 | 503 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs2025568570 | 504 | L>M | No | Ensembl | |
| rs2144260222 | 506 | I>T | No | Ensembl | |
| rs763068882 | 506 | I>V | No | ExAC | |
| rs2025568410 | 508 | D>E | No | Ensembl | |
| COSM4072437 | 509 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3526192 | 511 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2025568390 | 511 | D>V | No | Ensembl | |
| rs375197947 | 512 | E>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs2025568328 | 512 | E>Q | No | Ensembl | |
| rs2025568265 | 513 | E>Q | No | TOPMed | |
| rs760515993 | 514 | C>S | No |
ExAC gnomAD |
|
| COSM4072436 | 515 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3526191 | 516 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs192135533 | 516 | V>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000901967 rs192135533 |
516 | V>I | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 518 | K>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs767371946 | 518 | K>R | No |
ExAC gnomAD |
|
| COSM344649 | 519 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM2879038 RCV001768547 rs2144246987 |
519 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
| COSM1480359 | 519 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1207936021 | 520 | T>A | No |
TOPMed gnomAD |
|
| rs371936078 | 521 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs538616740 | 522 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs763767865 | 523 | N>S | No |
ExAC gnomAD |
|
| rs1568045823 | 525 | A>T | No | Ensembl | |
| TCGA novel | 526 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 527 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1369547753 | 528 | L>I | No | gnomAD | |
| rs966006212 | 529 | Y>C | No |
TOPMed gnomAD |
|
| rs1438151974 | 529 | Y>N | No |
TOPMed gnomAD |
|
| rs1598909043 | 530 | D>A | No | Ensembl | |
|
rs200469007 RCV001363122 |
530 | D>E | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1793702910 | 530 | D>Y | No | TOPMed | |
| rs1598909021 | 532 | H>P | No | Ensembl | |
| rs758904563 | 533 | S>F | No |
ExAC gnomAD |
|
| rs1598909014 | 533 | S>P | No | Ensembl | |
| rs2144246906 | 534 | S>C | No | Ensembl | |
|
TCGA novel rs1598909006 |
534 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1598909006 | 534 | S>T | No | TOPMed | |
| rs2144246889 | 536 | Q>* | No | Ensembl | |
| rs747494839 | 536 | Q>H | No |
ExAC gnomAD |
|
| rs370888152 | 536 | Q>R | No | ESP | |
| TCGA novel | 537 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2025467883 | 538 | F>L | No | TOPMed | |
| rs2025467858 | 539 | Q>* | No | Ensembl | |
| TCGA novel | 540 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1244002655 | 541 | P>L | No | gnomAD | |
| rs746895518 | 542 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs773025095 | 542 | R>H | No |
ExAC gnomAD |
|
| rs773025095 | 542 | R>L | No |
ExAC gnomAD |
|
| rs773025095 | 542 | R>P | No |
ExAC gnomAD |
|
| rs748566298 | 543 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs748566298 | 543 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs951913734 | 544 | S>F | No |
TOPMed gnomAD |
|
|
RCV001897253 rs2144246822 |
544 | S>T | No |
ClinVar Ensembl dbSNP |
|
| rs1328954280 | 545 | N>K | No |
TOPMed gnomAD |
|
| rs1399079640 | 545 | N>S | No | gnomAD | |
| rs201372185 | 546 | T>M | No |
ExAC TOPMed gnomAD |
|
|
rs1374951575 COSM4398355 |
547 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs780089668 | 549 | I>F | No |
ExAC gnomAD |
|
| rs780089668 | 549 | I>V | No |
ExAC gnomAD |
|
| rs1472115452 | 550 | I>V | No | gnomAD | |
| rs1439537280 | 551 | V>A | No | gnomAD | |
| rs7236435 | 552 | H>P | No | Ensembl | |
| rs887713195 | 552 | H>Q | No | Ensembl | |
| rs2144246767 | 552 | H>Y | No | Ensembl | |
| rs2025467221 | 554 | A>E | No | Ensembl | |
| rs536900208 | 554 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs752541296 | 555 | D>E | No | ExAC | |
| rs1341883130 | 558 | E>V | No | gnomAD | |
| rs2025449779 | 560 | L>F | No | TOPMed | |
| rs772778406 | 560 | L>R | No |
ExAC TOPMed gnomAD |
|
|
rs2025449709 COSM3526190 |
561 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs766999286 | 562 | D>E | No |
ExAC gnomAD |
|
| rs774764917 | 563 | G>A | No |
ExAC gnomAD |
|
|
rs762362651 RCV001991109 |
563 | G>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001362064 rs2144244124 |
565 | L>R | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 568 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1489309204 | 568 | N>S | No | gnomAD | |
| TCGA novel | 568 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3526188 | 569 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1284742961 | 569 | R>S | No |
TOPMed gnomAD |
|
| TCGA novel | 570 | D>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2025449401 | 570 | D>Y | No | TOPMed | |
| rs1355342908 | 571 | T>A | No |
TOPMed gnomAD |
|
| rs749679237 | 571 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1487926458 | 572 | V>A | No | gnomAD | |
| rs746143759 | 572 | V>L | No |
ExAC gnomAD |
|
| COSM3526187 | 572 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3526186 | 574 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001986966 rs371586732 |
576 | Q>H | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs370533981 | 577 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs770964995 | 577 | I>T | No |
ExAC gnomAD |
|
| rs1425069874 | 577 | I>V | No |
TOPMed gnomAD |
|
| rs778745198 | 578 | N>S | No |
ExAC TOPMed gnomAD |
|
|
RCV001955501 rs778745198 |
578 | N>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1369597474 | 579 | I>M | No | TOPMed | |
| rs369304806 | 582 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs369304806 | 582 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1218499932 | 583 | S>R | No | gnomAD | |
| rs750054708 | 587 | L>P | No |
ExAC gnomAD |
|
|
RCV002037123 rs1166778981 |
589 | A>T | No |
ClinVar dbSNP gnomAD |
|
|
rs780735273 RCV001295947 |
590 | D>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs181890135 | 592 | F>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372264584 RCV001915330 |
593 | H>R | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs753253103 | 594 | D>E | No |
ExAC gnomAD |
|
|
RCV001875279 rs199774365 |
595 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
| rs575724209 | 595 | D>G | No | 1000Genomes | |
| rs1238375083 | 595 | D>N | No |
TOPMed gnomAD |
|
| rs200548362 | 596 | K>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs370132961 | 596 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs776863264 | 596 | K>R | No |
ExAC gnomAD |
|
| rs773416594 | 597 | D>A | No |
ExAC TOPMed gnomAD |
|
| rs2025262727 | 597 | D>E | No | TOPMed | |
| rs773416594 | 597 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs75107667 | 598 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1242766204 | 599 | V>F | No | gnomAD | |
| rs1242766204 | 599 | V>I | No | gnomAD | |
|
COSM2879027 rs2025262660 |
600 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs775602214 | 601 | A>P | No |
ExAC gnomAD |
|
| rs775602214 | 601 | A>T | No |
ExAC gnomAD |
|
| rs920068425 | 602 | T>A | No | Ensembl | |
| rs2025262533 | 602 | T>I | No | gnomAD | |
| rs1478952934 | 603 | T>S | No |
TOPMed gnomAD |
|
|
COSM1611267 rs756856070 |
605 | G>R | liver [Cosmic] | No |
cosmic curated ExAC gnomAD |
| COSM988794 | 605 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1598895723 | 606 | K>N | No | Ensembl | |
| rs199813207 | 606 | K>R | No | Ensembl | |
| rs2025262309 | 607 | G>V | No | TOPMed | |
|
COSM1388954 rs1421265347 |
608 | S>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
|
rs1416947630 RCV001993964 |
609 | S>C | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs757945719 | 609 | S>P | No |
ExAC gnomAD |
|
|
rs753160864 COSM4400184 |
610 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1487913231 | 611 | K>N | No | gnomAD | |
| rs1267348047 | 612 | I>F | No |
TOPMed gnomAD |
|
|
rs370589682 RCV001351260 |
612 | I>M | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2025262018 | 612 | I>T | No | Ensembl | |
|
RCV002026920 rs1267348047 |
612 | I>V | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs766829308 | 613 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs754154299 | 613 | S>R | No |
ExAC gnomAD |
|
|
rs186494043 RCV002036032 |
615 | R>C | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs775514214 RCV001758217 |
615 | R>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs775514214 | 615 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1355364329 | 618 | R>I | No |
TOPMed gnomAD |
|
|
RCV002043059 rs745884966 |
619 | P>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs769626838 COSM71764 |
619 | P>T | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs781455598 | 620 | P>H | No | gnomAD | |
| rs781455598 | 620 | P>L | No | gnomAD | |
| rs1360856766 | 620 | P>S | No | gnomAD | |
| rs943298494 | 621 | M>I | No | TOPMed | |
| rs200891104 | 621 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs746635198 | 621 | M>T | No |
ExAC gnomAD |
|
| rs2025261401 | 622 | K>T | No | gnomAD | |
| rs777432556 | 623 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs777432556 | 623 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs747671509 | 625 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs370058052 | 625 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2025261272 | 625 | N>S | No | TOPMed | |
| rs1484482117 | 627 | E>G | No | gnomAD | |
|
rs1203725499 RCV002039852 |
627 | E>K | No |
ClinVar dbSNP gnomAD |
|
| rs1598895619 | 629 | K>E | No | TOPMed | |
| rs1598895619 | 629 | K>Q | No | TOPMed | |
| rs754423337 | 629 | K>R | No |
ExAC gnomAD |
|
| rs568535014 | 632 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV002022292 rs374640744 |
632 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1220336046 | 633 | G>D | No | gnomAD | |
| rs1317601930 | 634 | H>R | No | gnomAD | |
| rs767867688 | 634 | H>Y | No | ExAC | |
| rs2144212418 | 635 | Q>R | No | Ensembl | |
| rs2025250177 | 636 | F>I | No | TOPMed | |
| rs1465679673 | 637 | R>C | No |
TOPMed gnomAD |
|
| rs751856988 | 637 | R>H | No |
ExAC TOPMed gnomAD |
|
|
rs764052140 RCV001923762 |
638 | T>I | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs371760953 | 641 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs760396011 | 642 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs760396011 | 642 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1193958674 | 644 | M>I | No |
TOPMed gnomAD |
|
| rs772986195 | 644 | M>V | No |
ExAC gnomAD |
|
| rs1358356507 | 646 | T>N | No | gnomAD | |
| rs2025249688 | 647 | L>V | No | Ensembl | |
| rs892706451 | 648 | N>S | No | Ensembl | |
| rs2025249639 | 649 | A>V | No | TOPMed | |
| rs774090846 | 650 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs886053882 | 651 | T>I | No |
TOPMed gnomAD |
|
| rs1334620321 | 652 | P>A | No |
TOPMed gnomAD |
|
| rs1326305386 | 652 | P>H | No |
TOPMed gnomAD |
|
| rs1326305386 | 652 | P>L | No |
TOPMed gnomAD |
|
| rs1334620321 | 652 | P>S | No |
TOPMed gnomAD |
|
| rs1334620321 | 652 | P>T | No |
TOPMed gnomAD |
|
| rs2025249318 | 654 | Y>F | No | Ensembl | |
| rs121908105 | 656 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1163583538 | 656 | R>H | No |
TOPMed gnomAD |
|
| rs1163583538 | 656 | R>P | No |
TOPMed gnomAD |
|
| rs121908105 | 656 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1382564318 | 658 | I>L | No | gnomAD | |
| rs2025249054 | 658 | I>M | No | Ensembl | |
| rs757737747 | 659 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs757737747 | 659 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs1452327714 | 662 | D>G | No | gnomAD | |
|
COSM3959238 rs200378779 |
662 | D>H | lung [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200378779 RCV001482349 |
662 | D>N | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1452327714 | 662 | D>V | No | gnomAD | |
| rs763668146 | 663 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs752825163 | 664 | K>N | No |
ExAC gnomAD |
|
| rs765368500 | 665 | L>V | No |
ExAC gnomAD |
|
| rs1223946799 | 666 | P>A | No |
TOPMed gnomAD |
|
| rs1453181948 | 666 | P>H | No |
TOPMed gnomAD |
|
| rs1223946799 | 666 | P>T | No |
TOPMed gnomAD |
|
| rs961964592 | 667 | F>L | No |
TOPMed gnomAD |
|
| rs961964592 | 667 | F>V | No |
TOPMed gnomAD |
|
| rs1277450329 | 668 | H>D | No | gnomAD | |
| rs760588422 | 668 | H>L | No |
ExAC gnomAD |
|
| rs2144195098 | 668 | H>Q | No | Ensembl | |
| rs760588422 | 668 | H>R | No |
ExAC gnomAD |
|
| rs1277450329 | 668 | H>Y | No | gnomAD | |
| rs1598889424 | 669 | F>L | No | Ensembl | |
| rs2025167141 | 670 | D>A | No | gnomAD | |
| rs1296852119 | 670 | D>E | No | gnomAD | |
| rs2025167141 | 670 | D>V | No | gnomAD | |
| rs2025167166 | 670 | D>Y | No | Ensembl | |
| rs1360262594 | 673 | R>K | No | gnomAD | |
| rs777222341 | 674 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs777222341 | 674 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1598889400 | 675 | V>A | No | TOPMed | |
| rs1598889400 | 675 | V>G | No | TOPMed | |
| rs2144195031 | 675 | V>L | No | Ensembl | |
| rs1453899437 | 676 | Q>R | No | gnomAD | |
| TCGA novel | 679 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2969930 | 681 | C>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1401138978 COSM563802 COSM6082705 |
682 | G>R | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1401138978 | 682 | G>W | No | gnomAD | |
|
RCV001327479 rs748367985 |
683 | V>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs748367985 | 683 | V>G | No |
ExAC TOPMed gnomAD |
|
|
RCV002025853 rs772367372 |
683 | V>M | No |
ClinVar ExAC dbSNP gnomAD |
|
|
rs2144194943 RCV002011901 |
685 | E>G | No |
ClinVar Ensembl dbSNP |
|
| rs1014035512 | 688 | R>G | No | gnomAD | |
| rs780177504 | 688 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs780177504 | 688 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1204380931 | 690 | S>G | No |
TOPMed gnomAD |
|
| TCGA novel | 695 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1292690577 | 695 | P>S | No | gnomAD | |
| rs2025166182 | 696 | S>C | No | TOPMed | |
| rs1382574951 | 697 | R>G | No | gnomAD | |
| rs1313114658 | 697 | R>K | No | gnomAD | |
|
rs774688133 RCV001916940 |
697 | R>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs769061205 | 699 | A>P | No |
ExAC gnomAD |
|
| rs769061205 | 699 | A>S | No |
ExAC gnomAD |
|
| rs763135430 | 699 | A>V | No |
ExAC gnomAD |
|
| rs2144161524 | 700 | Y>* | No | Ensembl | |
|
rs2024965693 RCV001985930 |
700 | Y>C | No |
ClinVar Ensembl dbSNP |
|
| rs1281373397 | 701 | H>P | No |
TOPMed gnomAD |
|
| rs1281373397 | 701 | H>R | No |
TOPMed gnomAD |
|
| rs1463190163 | 701 | H>Y | No | TOPMed | |
| rs1385417225 | 702 | D>E | No |
TOPMed gnomAD |
|
| rs1383692926 | 702 | D>Y | No | gnomAD | |
| COSM473886 | 703 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1390152193 | 704 | F>L | No | TOPMed | |
| rs966892340 | 704 | F>Y | No | TOPMed | |
| rs376384329 | 705 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs777701945 | 705 | N>K | No |
ExAC gnomAD |
|
| rs376384329 | 705 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs376384329 | 705 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs373021162 | 706 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs771897253 | 706 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs754860103 | 707 | Y>D | No |
ExAC gnomAD |
|
| rs200856386 | 708 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201670299 | 708 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200856386 | 708 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs567098636 | 709 | V>A | No |
1000Genomes ExAC gnomAD |
|
| rs567098636 | 709 | V>E | No |
1000Genomes ExAC gnomAD |
|
| rs1275799597 | 711 | V>A | No |
TOPMed gnomAD |
|
| rs1035484501 | 711 | V>I | No | TOPMed | |
| TCGA novel | 712 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1264035931 | 714 | R>K | No |
TOPMed gnomAD |
|
| rs1264035931 | 714 | R>T | No |
TOPMed gnomAD |
|
|
RCV001985455 rs2144161362 |
715 | E>K | No |
ClinVar Ensembl dbSNP |
|
| rs2024964969 | 715 | E>V | No | Ensembl | |
| rs1261111710 | 716 | L>H | No | gnomAD | |
| rs2081686500 | 716 | L>V | No | TOPMed | |
| rs373248607 | 717 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs373248607 | 717 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs373248607 | 717 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2024964793 | 720 | D>G | No | Ensembl | |
| rs1294606731 | 720 | D>N | No | gnomAD | |
| rs763334363 | 721 | K>I | No |
ExAC gnomAD |
|
| rs1022805945 | 724 | I>L | No | gnomAD | |
| rs1568028274 | 724 | I>T | No | Ensembl | |
| rs1022805945 | 724 | I>V | No | gnomAD | |
| rs1169722454 | 726 | R>K | No |
TOPMed gnomAD |
|
| TCGA novel | 726 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1397183978 | 727 | S>P | No |
TOPMed gnomAD |
|
| rs765385481 | 728 | V>I | No |
ExAC gnomAD |
|
| rs776557234 | 729 | L>P | No |
ExAC gnomAD |
|
|
RCV001890137 rs201693565 |
729 | L>V | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1015349899 | 730 | E>G | No | Ensembl | |
| rs2144161194 | 730 | E>Q | No | Ensembl | |
| rs748063322 | 731 | N>K | No | ExAC | |
| rs1191446929 | 731 | N>T | No | gnomAD | |
| rs1283937972 | 732 | L>F | No |
TOPMed gnomAD |
|
| rs1283937972 | 732 | L>V | No |
TOPMed gnomAD |
|
| rs879232722 | 733 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| COSM4395660 | 735 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756703474 | 736 | P>A | No |
ExAC gnomAD |
|
| rs2024902995 | 736 | P>R | No | TOPMed | |
| rs756703474 | 736 | P>S | No |
ExAC gnomAD |
|
|
COSM2879012 rs758821508 |
737 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs758821508 | 737 | D>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs753293377 | 738 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs779113043 | 738 | K>M | No |
ExAC TOPMed gnomAD |
|
|
rs779113043 COSM4072434 |
738 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
RCV002037502 rs371741757 |
741 | F>Y | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs560075014 | 743 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs368212890 | 743 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM473885 | 746 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1259794730 | 747 | F>C | No |
TOPMed gnomAD |
|
| rs1179868986 | 747 | F>I | No | gnomAD | |
|
rs1490814880 RCV002033324 |
748 | F>missing | No |
ClinVar dbSNP |
|
|
COSM3526179 rs775529538 |
749 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs769427830 | 749 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs769427830 | 749 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs759393452 | 750 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs776202582 | 750 | A>V | No |
ExAC gnomAD |
|
| rs770569913 | 751 | G>D | No |
ExAC gnomAD |
|
| rs2024902166 | 752 | Q>* | No | TOPMed | |
| rs1473535020 | 753 | V>L | No |
TOPMed gnomAD |
|
| rs1285938277 | 755 | Y>* | No | gnomAD | |
| rs2024902089 | 755 | Y>S | No | Ensembl | |
| TCGA novel | 755 | Y>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201797985 RCV001874326 |
756 | L>V | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs2024901973 | 758 | K>E | No | Ensembl | |
| rs754258886 | 760 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs754258886 | 760 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
RCV001903219 rs767095432 |
760 | R>W | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs201238002 | 761 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs201238002 | 761 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs201238002 | 761 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2024901750 | 762 | D>N | No | gnomAD | |
| rs750716365 | 762 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs1410867516 | 763 | K>E | No | TOPMed | |
| rs767666638 | 763 | K>M | No |
ExAC gnomAD |
|
| rs200094239 | 763 | K>N | No |
1000Genomes ExAC gnomAD |
|
| rs767666638 | 763 | K>R | No |
ExAC gnomAD |
|
| rs267605197 | 764 | F>L | No |
ExAC gnomAD |
|
| rs1429892534 | 764 | F>S | No | gnomAD | |
|
RCV001373269 rs759461762 |
765 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs765228902 RCV002044877 |
765 | R>W | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| COSM1286461 | 766 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1030549638 | 768 | T>I | No |
TOPMed gnomAD |
|
| rs1030549638 | 768 | T>N | No |
TOPMed gnomAD |
|
|
rs770764473 RCV001397228 |
769 | I>N | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs770764473 | 769 | I>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001901803 rs370511121 |
769 | I>V | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM5588385 rs1598873247 |
770 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed NCI-TCGA Cosmic |
| rs2024901336 | 770 | M>V | No | gnomAD | |
|
rs2144150669 RCV002012434 |
771 | I>M | No |
ClinVar Ensembl dbSNP |
|
| rs1231447747 | 771 | I>V | No | TOPMed | |
| rs2144150659 | 772 | Q>* | No | Ensembl | |
| rs1192437582 | 773 | K>T | No | Ensembl | |
| rs760287743 | 774 | T>N | No |
ExAC gnomAD |
|
| rs201966606 | 776 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs779221743 | 777 | G>V | No |
ExAC gnomAD |
|
| rs769200828 | 778 | W>* | No |
ExAC TOPMed gnomAD |
|
| rs2024900975 | 778 | W>* | No | Ensembl | |
| rs769200828 | 778 | W>C | No |
ExAC TOPMed gnomAD |
|
| rs2144150592 | 780 | Q>P | No | Ensembl | |
| rs1363281922 | 782 | V>M | No | gnomAD | |
| rs2024900812 | 784 | Y>H | No | gnomAD | |
| rs2144150561 | 785 | H>R | No | Ensembl | |
|
RCV001976174 rs2144150553 |
786 | R>K | No |
ClinVar Ensembl dbSNP |
|
| rs371467730 | 789 | G>R | No | Ensembl | |
| TCGA novel | 790 | A>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1256245355 | 790 | A>T | No | TOPMed | |
| rs2024900612 | 791 | T>A | No | TOPMed | |
| rs781489880 | 791 | T>N | No |
ExAC gnomAD |
|
| rs1232869761 | 793 | T>P | No | gnomAD | |
| rs1186500048 | 793 | T>S | No |
TOPMed gnomAD |
|
| rs1568025905 | 794 | L>M | No | Ensembl | |
|
rs2144150506 RCV001877234 |
796 | R>K | No |
ClinVar Ensembl dbSNP |
|
| rs2024900440 | 796 | R>S | No | Ensembl | |
| rs2024900385 | 798 | C>F | No |
TOPMed gnomAD |
|
| rs2024900409 | 798 | C>R | No | gnomAD | |
| rs764140831 | 798 | C>W | No |
ExAC gnomAD |
|
| rs1474996872 | 799 | R>Q | No |
TOPMed gnomAD |
|
| rs1598873139 | 801 | H>P | No | Ensembl | |
| rs1185064133 | 801 | H>Y | No | gnomAD | |
| rs934453440 | 802 | L>V | No |
TOPMed gnomAD |
|
|
rs377458597 RCV001341023 |
804 | R>C | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs767203225 | 804 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs377458597 | 804 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs761439396 | 805 | R>K | No |
ExAC gnomAD |
|
| rs770424446 | 805 | R>S | No |
ExAC gnomAD |
|
| rs1215271492 | 808 | E>V | No |
TOPMed gnomAD |
|
| rs1162274040 | 809 | H>N | No |
TOPMed gnomAD |
|
| rs1162274040 | 809 | H>Y | No |
TOPMed gnomAD |
|
| rs772254605 | 811 | R>L | No |
ExAC TOPMed gnomAD |
|
|
RCV001935507 rs772254605 |
811 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs771243169 | 811 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 812 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772078441 | 812 | R>W | No |
ExAC gnomAD |
|
| rs2024881404 | 813 | I>V | No |
TOPMed gnomAD |
|
| rs2024881379 | 814 | R>I | No | TOPMed | |
|
rs748227747 RCV001950057 |
815 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs201123859 | 817 | V>G | No |
ExAC gnomAD |
|
| rs756031391 | 817 | V>L | No |
ExAC gnomAD |
|
| rs781007991 | 818 | V>G | No |
ExAC gnomAD |
|
| rs757025834 | 819 | L>F | No |
ExAC gnomAD |
|
| rs751167585 | 819 | L>P | No | ExAC | |
| rs757025834 | 819 | L>V | No |
ExAC gnomAD |
|
| rs763843310 | 820 | Q>P | No | ExAC | |
| rs2024880972 | 822 | H>R | No | gnomAD | |
| rs764893767 | 822 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs777038090 | 824 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs777038090 | 824 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1334284235 | 825 | M>T | No | Ensembl | |
| rs1395519853 | 828 | A>D | No | TOPMed | |
|
rs375202395 RCV001993012 |
829 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001887220 rs772273050 |
829 | R>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs772273050 | 829 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs373596171 | 830 | Q>K | No |
ESP TOPMed gnomAD |
|
| rs376725688 | 831 | A>T | No |
ESP ExAC |
|
| rs1375618020 | 832 | Y>C | No |
TOPMed gnomAD |
|
| rs768760965 | 833 | Q>R | No |
ExAC gnomAD |
|
| rs1480273869 | 834 | R>G | No | gnomAD | |
| COSM3526178 | 834 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs745776575 | 834 | R>S | No |
ExAC gnomAD |
|
| rs1224328865 | 835 | V>L | No |
TOPMed gnomAD |
|
| rs373039798 | 836 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs200591873 | 837 | R>K | No |
1000Genomes ExAC gnomAD |
|
| rs200591873 | 837 | R>T | No |
1000Genomes ExAC gnomAD |
|
| rs758105832 | 838 | A>P | No |
ExAC gnomAD |
|
| rs758105832 | 838 | A>T | No |
ExAC gnomAD |
|
| rs1234945345 | 839 | A>S | No |
TOPMed gnomAD |
|
| rs1234945345 | 839 | A>T | No |
TOPMed gnomAD |
|
| rs1325778657 | 839 | A>V | No | gnomAD | |
| rs530922514 | 840 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs754311097 | 841 | V>G | No |
ExAC gnomAD |
|
| rs1330249531 | 841 | V>L | No | gnomAD | |
| rs1383746101 | 842 | I>M | No | gnomAD | |
| rs1428978974 | 844 | A>D | No | Ensembl | |
| COSM4896935 | 844 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1220832749 | 845 | F>L | No |
TOPMed gnomAD |
|
| rs1407662748 | 846 | T>A | No | gnomAD | |
| rs1052919807 | 846 | T>I | No | TOPMed | |
| rs1407662748 | 846 | T>S | No | gnomAD | |
| rs368836963 | 847 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs772474014 | 847 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs772474014 | 847 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
rs368836963 COSM709420 |
847 | R>W | lung [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs267605196 | 848 | A>V | No | Ensembl | |
| rs761990326 | 849 | M>R | No |
ExAC TOPMed gnomAD |
|
|
rs761990326 COSM1637231 |
849 | M>T | bone [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
|
RCV001897294 rs925253139 |
849 | M>V | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs774586048 | 850 | F>C | No |
ExAC TOPMed gnomAD |
|
| rs774586048 | 850 | F>S | No |
ExAC TOPMed gnomAD |
|
| rs768724490 | 852 | R>G | No |
ExAC TOPMed gnomAD |
|
|
RCV002122982 rs145283236 |
852 | R>Q | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs768724490 RCV002029480 |
852 | R>W | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2024879380 | 853 | R>G | No | gnomAD | |
| rs1462681824 | 855 | Y>C | No | gnomAD | |
|
rs770761011 COSM438172 |
856 | R>C | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs770761011 | 856 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs909999412 | 856 | R>H | No |
TOPMed gnomAD |
|
| rs909999412 | 856 | R>L | No |
TOPMed gnomAD |
|
| rs770761011 | 856 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs201641526 | 857 | Q>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1202748503 | 858 | V>I | No | gnomAD | |
| rs1490783825 | 859 | L>F | No | gnomAD | |
| rs367931759 | 860 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs539079604 | 860 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs367931759 | 860 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs757827588 | 861 | E>G | No |
ExAC gnomAD |
|
| COSM4831369 | 861 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2024857757 | 863 | K>E | No | TOPMed | |
| rs1239190137 | 863 | K>N | No | gnomAD | |
| rs372432070 | 864 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs372432070 | 864 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV002020100 rs775815528 |
865 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs765187047 | 866 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1223179131 | 866 | T>S | No |
TOPMed gnomAD |
|
| rs1265490212 | 867 | I>M | No |
TOPMed gnomAD |
|
| rs1346540796 | 867 | I>T | No | gnomAD | |
| rs1222388866 | 870 | H>D | No |
TOPMed gnomAD |
|
| rs566021600 | 870 | H>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM321897 rs200084356 |
871 | V>L | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
|
RCV001897409 rs200084356 |
871 | V>M | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs375549243 | 872 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
|
rs199658277 RCV001304890 |
872 | R>W | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs868688046 | 873 | G>H | No | Ensembl | |
| rs2024857164 | 873 | G>R | No | TOPMed | |
| rs1307495259 | 873 | G>V | No | gnomAD | |
|
rs769234974 RCV001941432 |
875 | M>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1179934492 | 877 | R>C | No |
TOPMed gnomAD |
|
| rs1197970280 | 878 | R>G | No |
TOPMed gnomAD |
|
| rs780738516 | 878 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs780738516 | 878 | R>M | No |
ExAC TOPMed gnomAD |
|
| rs1002108223 | 879 | H>N | No |
TOPMed gnomAD |
|
|
rs77000962 RCV001314563 |
879 | H>Q | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1208792655 | 879 | H>R | No | gnomAD | |
| rs752104176 | 880 | F>I | No |
ExAC gnomAD |
|
| rs1225917620 | 880 | F>L | No | gnomAD | |
| rs752808273 | 882 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs752808273 | 882 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs375546772 | 884 | R>P | No |
1000Genomes ExAC gnomAD |
|
| rs375546772 | 884 | R>Q | No |
1000Genomes ExAC gnomAD |
|
|
rs753951906 RCV001902936 |
884 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs761810076 | 885 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs761810076 | 885 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs1156798499 | 887 | A>S | No |
TOPMed gnomAD |
|
| rs1470905817 | 887 | A>V | No | gnomAD | |
| rs774374760 | 888 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs2024856296 | 889 | V>I | No | gnomAD | |
| rs2024856233 | 891 | Q>* | No | Ensembl | |
| rs1476953794 | 891 | Q>H | No | gnomAD | |
| rs2024856209 | 891 | Q>R | No | gnomAD | |
| rs1243430087 | 892 | C>G | No |
TOPMed gnomAD |
|
| rs1243430087 | 892 | C>R | No |
TOPMed gnomAD |
|
| rs372823131 | 892 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs764819463 | 893 | A>S | No | Ensembl | |
| COSM3526176 | 895 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs201920924 | 895 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
COSM6003230 rs769423121 |
895 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1205070431 | 897 | L>F | No | gnomAD | |
| rs1278617685 | 898 | K>E | No | gnomAD | |
| rs1217776993 | 898 | K>R | No | gnomAD | |
| rs745571125 | 899 | A>S | No |
ExAC gnomAD |
|
| TCGA novel | 900 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs530225339 | 901 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs1338751420 COSM563804 COSM6082706 |
902 | E>K | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1448938467 | 903 | L>V | No | gnomAD | |
| rs1161706631 | 904 | K>N | No | TOPMed | |
| rs747427142 | 905 | A>P | No |
ExAC TOPMed gnomAD |
|
|
RCV001907359 rs747427142 |
905 | A>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs747427142 | 905 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1333441779 | 906 | L>F | No | gnomAD | |
| rs2024855446 | 910 | A>S | No | TOPMed | |
| rs114221227 | 911 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114221227 RCV000947880 |
911 | R>L | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2024855246 | 913 | A>G | No | gnomAD | |
|
rs564864501 RCV001895445 |
913 | A>S | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 913 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs373285292 | 914 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1208683354 | 916 | L>P | No | gnomAD | |
| rs766525225 | 918 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs766525225 | 918 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs2298624 | 918 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs766525225 | 918 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1204949508 | 920 | N>D | No | gnomAD | |
| rs751394892 | 920 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs762857950 | 920 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs751394892 | 920 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs775333298 | 921 | V>M | No |
ExAC gnomAD |
|
| rs1306140731 | 922 | G>A | No | TOPMed | |
| rs1283482790 | 922 | G>S | No | gnomAD | |
| rs1372379834 | 925 | N>S | No | gnomAD | |
| rs1314426983 | 925 | N>Y | No |
TOPMed gnomAD |
|
| rs2024854580 | 930 | L>M | No | TOPMed | |
| TCGA novel | 931 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM417828 | 932 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1368303058 | 932 | R>Q | No | gnomAD | |
|
RCV001954748 rs182361673 |
932 | R>W | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1181876118 RCV002025292 |
933 | K>R | No |
ClinVar TOPMed dbSNP |
|
| rs1249962969 | 934 | I>V | No |
TOPMed gnomAD |
|
| rs376657626 | 935 | D>V | No |
ESP TOPMed gnomAD |
|
| rs772660758 | 937 | Q>K | No |
ExAC gnomAD |
|
| rs1415995475 | 937 | Q>R | No | TOPMed | |
| rs1568021557 | 938 | N>K | No | Ensembl | |
| rs2024764153 | 941 | F>L | No | TOPMed | |
| rs2024764117 | 942 | K>E | No | TOPMed | |
|
VAR_056185 rs2277716 |
942 | K>R | No |
UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs778830477 | 943 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs780982522 | 945 | S>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753613582 | 946 | E>D | No |
ExAC gnomAD |
|
| rs766132905 | 947 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2024763815 | 949 | S>A | No | gnomAD | |
| TCGA novel | 949 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs369390900 | 950 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs767002724 | 951 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs2024763609 | 952 | T>I | No | gnomAD | |
| rs761241438 | 953 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs961812027 | 954 | T>A | No |
TOPMed gnomAD |
|
|
rs1233634156 RCV001895318 |
954 | T>I | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs763603836 | 955 | Y>* | No |
ExAC gnomAD |
|
| rs9948144 | 956 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs770088151 | 956 | T>I | No |
ExAC gnomAD |
|
| rs9948144 | 956 | T>P | No |
ExAC TOPMed gnomAD |
|
| COSM6082707 | 957 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1408494430 | 957 | M>T | No | TOPMed | |
| rs1319262539 | 957 | M>V | No |
TOPMed gnomAD |
|
| rs746055898 | 958 | E>V | No |
ExAC TOPMed gnomAD |
|
|
rs1303946117 RCV002017470 |
959 | V>A | No |
ClinVar dbSNP gnomAD |
|
|
rs1404964121 COSM2878989 |
959 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1598864136 | 960 | E>K | No | Ensembl | |
| rs1598864136 | 960 | E>Q | No | Ensembl | |
|
RCV001869897 rs770979977 |
961 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001758229 rs756861105 |
964 | K>missing | No |
ClinVar dbSNP |
|
| rs777891692 | 964 | K>* | No |
ExAC gnomAD |
|
| COSM5929823 | 965 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1267035369 | 965 | E>Q | No |
TOPMed gnomAD |
|
| COSM988792 | 966 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753810641 | 968 | H>Y | No |
ExAC gnomAD |
|
| rs1258105320 | 969 | Y>C | No | gnomAD | |
| rs2024762726 | 970 | Q>* | No | Ensembl | |
| rs779855968 | 971 | Q>H | No |
ExAC gnomAD |
|
| rs1482775858 | 972 | S>N | No | gnomAD | |
| rs755882247 | 973 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs755882247 | 973 | P>R | No |
ExAC TOPMed gnomAD |
|
|
RCV001308154 rs767079186 |
974 | G>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs750032213 | 974 | G>S | No |
ExAC gnomAD |
|
| rs761624048 | 975 | E>G | No |
ExAC gnomAD |
|
| TCGA novel | 977 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs763736771 | 977 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs2024762265 | 978 | S>R | No | gnomAD | |
| rs2024762297 | 978 | S>T | No | TOPMed | |
| TCGA novel | 980 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763514366 RCV001898687 |
980 | R>W | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1400741635 | 982 | Q>* | No | gnomAD | |
|
RCV002040324 rs757039495 |
984 | E>missing | No |
ClinVar dbSNP |
|
| rs759826786 | 985 | V>A | No |
ExAC gnomAD |
|
| rs759826786 | 985 | V>G | No |
ExAC gnomAD |
|
| rs777122898 | 987 | S>I | No |
ExAC gnomAD |
|
|
COSM3526174 rs777122898 |
987 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1598864018 | 987 | S>R | No | Ensembl | |
|
rs771049134 RCV001881087 |
989 | R>C | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs747276755 | 989 | R>L | No |
ExAC TOPMed gnomAD |
|
|
RCV001970580 rs771049134 |
989 | R>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1369153296 | 990 | T>A | No |
TOPMed gnomAD |
|
| rs1031350313 | 990 | T>I | No |
TOPMed gnomAD |
|
| rs1031350313 | 990 | T>R | No |
TOPMed gnomAD |
|
| rs1423138349 | 991 | E>* | No | gnomAD | |
| rs1468349284 | 991 | E>A | No |
TOPMed gnomAD |
|
| rs1184060148 | 994 | R>S | No |
TOPMed gnomAD |
|
| rs2024761568 | 996 | H>Q | No | Ensembl | |
| rs749172925 | 997 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs866858191 | 998 | E>K | No | gnomAD | |
| rs374195912 | 999 | R>H | No |
ESP TOPMed gnomAD |
|
| rs755870645 | 999 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs745645137 | 1000 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs745645137 | 1000 | K>Q | No |
ExAC TOPMed gnomAD |
|
| rs781099642 | 1000 | K>R | No |
ExAC gnomAD |
|
| TCGA novel | 1001 | I>D | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs895334015 | 1001 | I>M | No | Ensembl | |
|
rs2024761121 COSM3526172 |
1003 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs2024761093 | 1004 | D>N | No | gnomAD | |
| rs1407268330 | 1005 | A>D | No | gnomAD | |
|
rs539183320 RCV001956656 |
1005 | A>T | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs888019349 | 1006 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs765661059 | 1008 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1415503717 | 1008 | R>K | No | gnomAD | |
| rs1485458017 | 1009 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1472772691 | 1010 | K>R | No |
TOPMed gnomAD |
|
|
COSM6148535 rs373812332 COSM1522912 |
1012 | E>D | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1179447964 | 1012 | E>K | No | gnomAD | |
| rs1267686750 | 1014 | R>K | No |
TOPMed gnomAD |
|
| rs535609385 | 1015 | K>* | No |
ExAC gnomAD |
|
| rs535609385 | 1015 | K>E | No |
ExAC gnomAD |
|
|
COSM88489 RCV003050502 rs200358260 |
1016 | R>* | Variant assessed as Somatic; HIGH impact. ovary [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs199498650 | 1016 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1316139650 | 1019 | D>H | No | gnomAD | |
| rs761038201 | 1021 | E>G | No |
ExAC gnomAD |
|
| COSM262263 | 1025 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767721191 | 1026 | L>F | No |
ExAC gnomAD |
|
| COSM988791 | 1026 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767721191 | 1026 | L>V | No |
ExAC gnomAD |
|
| rs757588113 | 1028 | K>I | No | Ensembl | |
| rs377722632 | 1029 | D>G | No |
ESP TOPMed gnomAD |
|
| rs377722632 | 1029 | D>V | No |
ESP TOPMed gnomAD |
|
| rs774273210 | 1030 | E>A | No |
ExAC gnomAD |
|
| rs768812305 | 1031 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs745745112 | 1031 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1217315101 | 1033 | Q>H | No | TOPMed | |
| rs571633777 | 1033 | Q>R | No |
1000Genomes ExAC gnomAD |
|
| rs2024573621 | 1035 | N>Y | No | gnomAD | |
|
RCV001999642 rs2144107690 |
1036 | N>S | No |
ClinVar Ensembl dbSNP |
|
| rs751005908 | 1036 | N>T | No |
ExAC gnomAD |
|
| rs1227296909 | 1038 | I>L | No | gnomAD | |
|
RCV002009233 rs746798083 |
1039 | L>P | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs981896430 | 1041 | Q>H | No |
TOPMed gnomAD |
|
| rs1331259142 | 1042 | S>C | No |
TOPMed gnomAD |
|
| rs777772116 | 1043 | K>E | No |
ExAC gnomAD |
|
| rs2024558636 | 1044 | D>G | No | TOPMed | |
| rs970457989 | 1044 | D>N | No |
TOPMed gnomAD |
|
| rs1302588433 | 1045 | E>D | No |
TOPMed gnomAD |
|
| rs2024558604 | 1045 | E>G | No | gnomAD | |
| rs2144105227 | 1046 | F>L | No | Ensembl | |
|
rs562769688 RCV001870296 |
1047 | A>S | No |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
| rs562769688 | 1047 | A>T | No |
1000Genomes ExAC gnomAD |
|
| rs747702447 | 1047 | A>V | No |
ExAC gnomAD |
|
| rs1352441658 | 1048 | Q>E | No | gnomAD | |
| rs368793108 | 1048 | Q>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs368793108 | 1048 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
|
rs61737445 RCV001995610 |
1049 | N>K | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1413623551 | 1050 | S>F | No | gnomAD | |
| rs375397981 | 1051 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs1473750436 | 1051 | V>L | No | gnomAD | |
| rs748828349 | 1052 | K>R | No |
ExAC gnomAD |
|
|
RCV001874811 rs557000450 |
1053 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1194253918 | 1054 | N>Y | No | gnomAD | |
|
VAR_063142 rs72530399 |
1055 | L>LL | No |
UniProt dbSNP |
|
| rs754272038 | 1055 | L>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1568623038 | 1056 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs200219597 | 1056 | M>L | No | ExAC | |
| rs1209727377 | 1057 | K>N | No |
TOPMed gnomAD |
|
| rs1321198871 | 1057 | K>R | No |
TOPMed gnomAD |
|
|
RCV001867457 rs750970018 |
1059 | E>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs781487987 RCV001295737 |
1059 | E>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs751665071 | 1060 | L>M | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1061 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2024557547 | 1062 | E>G | No | gnomAD | |
| TCGA novel | 1062 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001917341 rs752799569 |
1064 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs765443536 COSM3891098 |
1064 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs773309893 | 1065 | S>C | No |
ExAC gnomAD |
|
|
RCV002033355 rs760646336 |
1065 | S>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs201281611 | 1066 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201281611 | 1066 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2024557200 | 1068 | Q>H | No | TOPMed | |
|
rs200799466 RCV001892022 |
1068 | Q>R | No |
ClinVar TOPMed dbSNP |
|
|
COSM2156076 rs768343996 |
1069 | N>K | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs748990242 | 1070 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs867783774 | 1070 | L>P | No | Ensembl | |
| rs2024557037 | 1071 | V>A | No | gnomAD | |
| COSM3526171 | 1073 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2024556955 | 1075 | S>L | No | TOPMed | |
| COSM1388949 | 1075 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1251191391 | 1075 | S>T | No | gnomAD | |
| rs596220 | 1077 | L>W | No | Ensembl | |
| rs2024556869 | 1078 | E>G | No | TOPMed | |
| rs774950157 | 1080 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs746316472 | 1081 | Y>* | No |
ExAC TOPMed gnomAD |
|
| rs769324963 | 1081 | Y>H | No |
ExAC gnomAD |
|
| rs2024556668 | 1082 | D>E | No | TOPMed | |
| rs959264569 | 1083 | N>K | No |
TOPMed gnomAD |
|
| rs1000783989 | 1083 | N>S | No | TOPMed | |
|
RCV001963522 rs757769301 |
1085 | R>Q | No |
ClinVar ExAC dbSNP gnomAD |
|
|
rs61737444 COSM1742301 |
1085 | R>W | urinary_tract [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| rs747383756 | 1086 | D>E | No |
ExAC gnomAD |
|
| rs2024556426 | 1086 | D>G | No | TOPMed | |
| rs867534370 | 1087 | E>K | No | Ensembl | |
| rs1288796194 | 1090 | I>T | No |
TOPMed gnomAD |
|
| rs2024556287 | 1091 | I>T | No | Ensembl | |
| rs778045982 | 1092 | K>Q | No |
ExAC gnomAD |
|
| rs1188315877 | 1095 | P>A | No | gnomAD | |
| rs757188784 | 1097 | H>R | No |
ExAC gnomAD |
|
| rs766421153 | 1097 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs377018425 | 1099 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV001969531 rs377018425 |
1099 | R>Q | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs751484609 COSM1239529 RCV001901202 |
1099 | R>W | oesophagus haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
| rs180868486 | 1100 | N>K | No |
1000Genomes ExAC gnomAD |
|
| rs953192277 | 1101 | P>A | No | Ensembl | |
| rs953192277 | 1101 | P>S | No | Ensembl | |
| rs1324017347 | 1102 | S>P | No | gnomAD | |
| rs1314084997 | 1104 | Q>* | No |
TOPMed gnomAD |
|
| rs764854789 | 1104 | Q>H | No |
ExAC TOPMed gnomAD |
|
|
rs2144103117 RCV001928518 |
1104 | Q>R | No |
ClinVar Ensembl dbSNP |
|
| rs758615129 | 1106 | S>R | No | gnomAD | |
| rs1188231064 | 1108 | E>K | No | TOPMed | |
| rs2024544405 | 1110 | D>G | No |
TOPMed gnomAD |
|
| rs2024544435 | 1110 | D>N | No | Ensembl | |
| rs967113023 | 1112 | N>S | No | Ensembl | |
| rs776173316 | 1113 | Y>* | No |
ExAC gnomAD |
|
| rs2024544255 | 1114 | P>R | No |
TOPMed gnomAD |
|
| rs761191799 | 1115 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs772501970 | 1116 | I>M | No |
ExAC gnomAD |
|
| rs773602695 | 1116 | I>V | No |
ExAC gnomAD |
|
| rs748522936 | 1117 | S>F | No |
ExAC gnomAD |
|
| rs947440443 | 1118 | T>I | No |
TOPMed gnomAD |
|
| rs372567150 | 1119 | S>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs372567150 | 1119 | S>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs28637129 | 1121 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV002038243 rs2144103021 |
1121 | I>MR | No |
ClinVar Ensembl dbSNP |
|
| rs1489178230 | 1121 | I>N | No | gnomAD | |
| rs751447384 | 1122 | G>E | No |
ExAC gnomAD |
|
|
rs756171493 COSM3821539 |
1122 | G>R | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs751447384 | 1122 | G>V | No |
ExAC gnomAD |
|
| rs1315047749 | 1123 | D>E | No | TOPMed | |
| rs2024543599 | 1123 | D>V | No | Ensembl | |
|
rs375254329 RCV001932090 |
1124 | T>A | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs758385996 | 1124 | T>I | No |
ExAC TOPMed gnomAD |
|
| COSM3796436 | 1125 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1364696252 | 1126 | D>V | No |
TOPMed gnomAD |
|
| rs2144102982 | 1127 | A>G | No | Ensembl | |
| rs765054056 | 1128 | L>F | No |
ExAC gnomAD |
|
| rs1388556340 | 1128 | L>H | No | gnomAD | |
| rs753452028 | 1129 | Q>H | No |
ExAC gnomAD |
|
| rs1568622352 | 1129 | Q>R | No | Ensembl | |
| TCGA novel | 1130 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1598851262 | 1131 | V>A | No | Ensembl | |
| rs1598851262 | 1131 | V>G | No | Ensembl | |
| COSM3526170 | 1133 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs760437561 | 1136 | L>R | No |
ExAC TOPMed gnomAD |
|
| rs765946682 | 1136 | L>V | No |
ExAC gnomAD |
|
|
TCGA novel rs2024515022 |
1141 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs962379336 | 1141 | M>V | No | Ensembl | |
| rs957096119 | 1142 | D>E | No |
TOPMed gnomAD |
|
| rs2024514991 | 1142 | D>G | No | TOPMed | |
| rs2024514902 | 1143 | M>L | No | TOPMed | |
| rs780469134 | 1143 | M>T | No | Ensembl | |
| rs767178096 | 1144 | T>A | No |
ExAC TOPMed gnomAD |
|
|
RCV001338965 rs372301424 |
1144 | T>K | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001911339 rs372301424 |
1144 | T>M | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs372301424 | 1144 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1270896603 | 1145 | V>F | No | gnomAD | |
| rs1315943748 | 1147 | L>R | No | gnomAD | |
| rs2024514297 | 1148 | K>Q | No | Ensembl | |
| rs2024514238 | 1151 | K>E | No | TOPMed | |
| rs763222014 | 1153 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs763222014 | 1153 | V>L | No |
ExAC TOPMed gnomAD |
|
|
rs371387703 RCV001922649 |
1154 | R>Q | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1391462866 | 1155 | E>D | No | gnomAD | |
| rs2024513775 | 1155 | E>Q | No | Ensembl | |
| rs746140443 | 1158 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs1423511121 | 1158 | Q>H | No | TOPMed | |
| rs897081722 | 1159 | E>A | No | TOPMed | |
| rs897081722 | 1159 | E>G | No | TOPMed | |
| rs2144099882 | 1162 | K>N | No | Ensembl | |
| rs771017980 | 1163 | L>V | No |
ExAC gnomAD |
|
| rs755012983 | 1165 | V>M | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1166 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001388541 rs1290546936 |
1168 | E>missing | No |
ClinVar dbSNP |
|
| rs2024512944 | 1168 | E>D | No | Ensembl | |
| rs749027491 | 1168 | E>V | No |
ExAC gnomAD |
|
| rs1273798936 | 1169 | K>N | No | gnomAD | |
| rs2024512887 | 1169 | K>R | No | TOPMed | |
| rs779950293 | 1171 | E>K | No |
ExAC gnomAD |
|
| rs1387440491 | 1171 | E>V | No |
TOPMed gnomAD |
|
|
rs755694499 RCV002036362 |
1173 | Q>P | No |
ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 1174 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001986440 rs767088378 |
1174 | D>G | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs750133529 RCV002010683 |
1174 | D>N | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs200550771 | 1175 | S>I | No | 1000Genomes | |
| rs1355874357 | 1176 | K>N | No |
TOPMed gnomAD |
|
| COSM438171 | 1176 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2024512306 | 1177 | K>E | No | TOPMed | |
|
rs756841154 RCV002018463 |
1178 | V>D | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1598849821 | 1178 | V>F | No | Ensembl | |
| rs2024512060 | 1179 | Q>* | No | TOPMed | |
| rs561941052 | 1180 | A>V | No |
ExAC TOPMed gnomAD |
|
|
RCV001907628 rs2144094068 |
1181 | E>A | No |
ClinVar Ensembl dbSNP |
|
|
RCV001966236 rs2144094058 |
1182 | P>L | No |
ClinVar Ensembl dbSNP |
|
| rs1455623449 | 1183 | P>T | No | gnomAD | |
|
RCV001923109 rs2144094044 |
1184 | Q>missing | No |
ClinVar dbSNP |
|
| rs1555795769 | 1186 | D>E | No |
TOPMed gnomAD |
|
| rs376909051 | 1188 | D>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201172517 | 1188 | D>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201172517 | 1188 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs376909051 RCV001890609 |
1188 | D>V | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs201172517 | 1188 | D>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs867643879 | 1190 | D>G | No |
TOPMed gnomAD |
|
| rs878883738 | 1190 | D>H | No | Ensembl | |
|
RCV001958232 rs867643879 |
1190 | D>V | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
RCV000908224 rs373211672 |
1191 | P>L | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs373211672 | 1191 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2024463153 | 1191 | P>S | No | Ensembl | |
| rs2144093990 | 1192 | N>D | No | Ensembl | |
| rs1319978726 | 1192 | N>K | No | gnomAD | |
| rs541626099 | 1194 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1252255795 | 1194 | D>Y | No | gnomAD | |
| rs1239298992 | 1198 | N>K | No |
TOPMed gnomAD |
|
| rs1735179478 | 1198 | N>S | No | TOPMed | |
| rs1598847223 | 1198 | N>Y | No | Ensembl | |
| rs746689417 | 1199 | S>N | No |
ExAC gnomAD |
|
| rs746689417 | 1199 | S>T | No |
ExAC gnomAD |
|
| rs2024462636 | 1200 | L>Q | No | Ensembl | |
| rs2024462636 | 1200 | L>R | No | Ensembl | |
| COSM4921206 | 1202 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1199287156 | 1203 | Q>* | No |
TOPMed gnomAD |
|
| rs1199287156 | 1203 | Q>E | No |
TOPMed gnomAD |
|
| rs2024371528 | 1203 | Q>R | No | Ensembl | |
| TCGA novel | 1205 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1568615870 | 1205 | L>R | No | Ensembl | |
| rs2024371414 | 1205 | L>V | No | TOPMed | |
| COSM1324571 | 1206 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3526168 | 1206 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1598841780 | 1207 | S>A | No | Ensembl | |
| rs2024371242 | 1207 | S>L | No |
TOPMed gnomAD |
|
| COSM3526167 | 1210 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750546939 | 1210 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs750546939 | 1210 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs57700671 | 1212 | L>M | No | Ensembl | |
|
rs1419433184 RCV001978273 |
1212 | L>R | No |
ClinVar dbSNP gnomAD |
|
| rs2024370824 | 1213 | K>N | No | Ensembl | |
| rs1187307468 | 1213 | K>Q | No | gnomAD | |
|
rs201651982 RCV001301752 |
1213 | K>R | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2024370767 | 1214 | N>D | No | Ensembl | |
| TCGA novel | 1215 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs907136453 | 1215 | D>Y | No | TOPMed | |
| rs766207257 | 1217 | N>D | No |
ExAC gnomAD |
|
| rs766207257 | 1217 | N>H | No |
ExAC gnomAD |
|
| rs2024370352 | 1218 | E>K | No | TOPMed | |
| rs1353722692 | 1219 | L>V | No | gnomAD | |
| rs2024370131 | 1220 | R>T | No | TOPMed | |
| rs771730210 | 1222 | A>P | No |
ExAC gnomAD |
|
| rs771730210 | 1222 | A>S | No |
ExAC gnomAD |
|
| rs1296561335 | 1222 | A>V | No |
TOPMed gnomAD |
|
| rs1396668009 | 1223 | V>G | No |
TOPMed gnomAD |
|
|
rs773812634 RCV001892252 |
1223 | V>M | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1598841719 | 1225 | D>A | No | Ensembl | |
| rs1366314720 | 1225 | D>E | No | gnomAD | |
| rs780544339 | 1225 | D>N | No |
ExAC gnomAD |
|
| rs2024369399 | 1226 | Q>E | No | gnomAD | |
| rs2024369347 | 1226 | Q>H | No | gnomAD | |
| rs1183569079 | 1228 | T>K | No |
TOPMed gnomAD |
|
|
rs1183569079 RCV001948874 |
1228 | T>M | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2024369176 | 1229 | Q>E | No | TOPMed | |
| rs1401920320 | 1230 | N>S | No | Ensembl | |
| rs1401920320 | 1230 | N>T | No | Ensembl | |
| rs756681109 | 1231 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs756681109 | 1231 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs746232239 | 1232 | S>P | No |
ExAC gnomAD |
|
| rs1283703359 | 1233 | S>G | No | Ensembl | |
| rs370216981 | 1233 | S>R | No |
ESP TOPMed |
|
| rs2024368868 | 1234 | H>P | No | Ensembl | |
| rs1470210646 | 1234 | H>Y | No | gnomAD | |
| rs1213413329 | 1235 | G>R | No |
TOPMed gnomAD |
|
| rs1213413329 | 1235 | G>S | No |
TOPMed gnomAD |
|
| rs375823626 | 1236 | S>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1239988069 | 1237 | P>R | No | gnomAD | |
| rs1045489613 | 1238 | D>E | No |
TOPMed gnomAD |
|
| rs1260058166 | 1238 | D>G | No |
TOPMed gnomAD |
|
| rs1219242557 | 1238 | D>Y | No | TOPMed | |
| rs758553833 | 1240 | Y>C | No |
ExAC gnomAD |
|
| rs1048386963 | 1240 | Y>H | No |
TOPMed gnomAD |
|
| rs868736542 | 1241 | S>G | No | Ensembl | |
| rs949719073 | 1241 | S>N | No |
TOPMed gnomAD |
|
| rs1460688396 | 1243 | L>R | No | gnomAD | |
| rs766403576 | 1244 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs372636141 | 1245 | N>S | No | ESP | |
| rs865939660 | 1246 | Q>* | No | Ensembl | |
| rs1568615727 | 1249 | L>M | No | Ensembl | |
| rs761482043 | 1249 | L>P | No |
ExAC gnomAD |
|
| rs761482043 | 1249 | L>R | No |
ExAC gnomAD |
|
|
rs774010032 RCV001936169 |
1250 | A>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs768089604 | 1251 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs775041779 | 1252 | E>D | No |
ExAC gnomAD |
|
| COSM3891097 | 1252 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1463571659 | 1252 | E>Q | No |
TOPMed gnomAD |
|
| rs1166831769 | 1254 | L>F | No |
TOPMed gnomAD |
|
| rs2024367736 | 1254 | L>P | No | Ensembl | |
| rs781569396 | 1255 | E>A | No |
ExAC gnomAD |
|
| rs761611635 | 1255 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs778133001 | 1257 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs778133001 | 1257 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs747159964 | 1257 | R>S | No |
ExAC gnomAD |
|
|
COSM563810 rs1040629352 COSM6082708 |
1260 | E>D | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated TOPMed gnomAD NCI-TCGA Cosmic |
| rs925774656 | 1261 | V>A | No | TOPMed | |
| rs925774656 | 1261 | V>G | No | TOPMed | |
| rs372107755 | 1261 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs372107755 | 1261 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs756041853 | 1263 | I>S | No |
ExAC TOPMed gnomAD |
|
| rs756041853 | 1263 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs1440042169 | 1263 | I>V | No | gnomAD | |
| rs1320030351 | 1265 | R>G | No |
TOPMed gnomAD |
|
| rs1383742300 | 1266 | T>P | No |
TOPMed gnomAD |
|
| rs2024366957 | 1267 | Q>H | No | gnomAD | |
| rs751424284 | 1268 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs2024366899 | 1268 | I>T | No | Ensembl | |
| rs1199010714 | 1268 | I>V | No | TOPMed | |
| rs367940436 | 1269 | V>A | No |
ESP TOPMed |
|
| rs2024366865 | 1269 | V>L | No | TOPMed | |
| rs1598841512 | 1270 | S>I | No | Ensembl | |
|
TCGA novel rs1598841512 |
1270 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs762644280 | 1270 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs774939708 | 1271 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs774939708 | 1271 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1598841489 | 1272 | D>A | No | Ensembl | |
| rs2024366565 | 1272 | D>N | No | TOPMed | |
|
rs1446821416 RCV001906616 |
1274 | R>L | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
COSM3526166 rs1446821416 |
1274 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs199930567 | 1274 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
rs760030699 COSM4072430 |
1275 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| COSM6148536 | 1275 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1486146922 | 1276 | L>P | No |
TOPMed gnomAD |
|
| rs2024366168 | 1277 | A>D | No | Ensembl | |
| rs1217605009 | 1277 | A>P | No |
TOPMed gnomAD |
|
| rs1217605009 | 1277 | A>S | No |
TOPMed gnomAD |
|
| rs1217605009 | 1277 | A>T | No |
TOPMed gnomAD |
|
| rs771531830 | 1278 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs747360258 | 1278 | G>D | No |
ExAC gnomAD |
|
| rs771531830 | 1278 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1227824999 | 1279 | R>G | No | gnomAD | |
| rs368951466 | 1279 | R>M | No |
ESP TOPMed gnomAD |
|
|
rs2144080091 RCV001945828 |
1279 | R>S | No |
ClinVar Ensembl dbSNP |
|
| rs368951466 | 1279 | R>T | No |
ESP TOPMed gnomAD |
|
| rs2024365984 | 1280 | N>D | No |
TOPMed gnomAD |
|
| rs374627117 | 1280 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1296158683 | 1280 | N>T | No | gnomAD | |
| rs748414901 | 1281 | A>E | No |
ExAC gnomAD |
|
| rs772389682 | 1281 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1279620656 | 1282 | E>G | No | gnomAD | |
|
rs1195500915 RCV001874083 |
1283 | P>L | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1195500915 | 1283 | P>R | No |
TOPMed gnomAD |
|
| rs1375246242 | 1284 | N>S | No |
TOPMed gnomAD |
|
| rs1328558887 | 1285 | I>V | No |
TOPMed gnomAD |
|
|
rs370557489 RCV002000707 |
1286 | N>H | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs764780041 | 1286 | N>K | No |
ExAC TOPMed gnomAD |
|
|
RCV000996684 rs1598840811 |
1287 | A>missing | No |
ClinVar dbSNP |
|
| rs1193750220 | 1287 | A>S | No |
TOPMed gnomAD |
|
| rs1272618526 | 1288 | R>* | No | gnomAD | |
| rs1163199813 | 1290 | S>G | No | gnomAD | |
| rs1007715561 | 1290 | S>R | No | Ensembl | |
| rs2024353972 | 1291 | W>* | No |
TOPMed gnomAD |
|
|
RCV001931134 rs1402652492 |
1291 | W>* | No |
ClinVar dbSNP gnomAD |
|
| rs1374355081 | 1294 | S>R | No | TOPMed | |
| rs2043911310 | 1296 | K>E | No | Ensembl | |
| rs1236234047 | 1297 | H>Q | No |
TOPMed gnomAD |
|
|
rs2024353640 RCV001303520 |
1298 | V>missing | No |
ClinVar dbSNP |
|
|
RCV002022741 rs2024353698 |
1300 | Q>E | No |
ClinVar TOPMed dbSNP |
|
| rs2144078472 | 1302 | D>A | No | Ensembl | |
| rs901130766 | 1302 | D>Y | No |
TOPMed gnomAD |
|
| TCGA novel | 1303 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761217430 | 1304 | I>S | No |
ExAC TOPMed gnomAD |
|
| rs761217430 | 1304 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs765941227 | 1304 | I>V | No |
ExAC gnomAD |
|
| rs773872107 | 1305 | E>A | No |
ExAC gnomAD |
|
| rs1000417481 | 1307 | Y>N | No | Ensembl | |
| rs774837934 | 1307 | Y>S | No |
ExAC TOPMed gnomAD |
|
|
rs775393225 RCV001349371 |
1309 | G>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs749567358 RCV002021868 |
1309 | G>R | No |
ExAC TOPMed gnomAD ClinVar dbSNP |
|
| rs769875052 | 1310 | V>I | No |
ExAC gnomAD |
|
| rs1374699552 | 1311 | C>Y | No |
TOPMed gnomAD |
|
| rs2024353062 | 1312 | Q>* | No |
TOPMed gnomAD |
|
|
rs2144078392 RCV002029761 |
1312 | Q>R | No |
ClinVar Ensembl dbSNP |
|
| rs373738577 | 1313 | T>A | No |
ESP ExAC |
|
| rs777682824 | 1314 | N>S | No |
ExAC gnomAD |
|
| rs771017781 | 1315 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs1238229777 | 1315 | S>T | No | Ensembl | |
| rs1357540161 | 1316 | K>E | No | gnomAD | |
| COSM988786 | 1318 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2024269127 | 1319 | D>N | No | Ensembl | |
| rs1294174391 | 1320 | W>G | No | gnomAD | |
|
RCV001904209 rs932171818 |
1321 | G>* | No |
ClinVar Ensembl dbSNP |
|
| rs932171818 | 1321 | G>R | No | Ensembl | |
| rs774352140 | 1323 | L>I | No |
ExAC gnomAD |
|
| rs999809517 | 1324 | N>S | No |
TOPMed gnomAD |
|
| rs1167177575 | 1326 | D>A | No |
TOPMed gnomAD |
|
| rs1167177575 | 1326 | D>G | No |
TOPMed gnomAD |
|
| TCGA novel | 1328 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1329 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001981180 rs557902503 COSM2878954 |
1330 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1400954248 | 1330 | G>V | No | gnomAD | |
| rs2144066701 | 1331 | L>W | No | Ensembl | |
| rs1169608229 | 1332 | A>S | No | gnomAD | |
| rs1419507190 | 1334 | Q>* | No | gnomAD | |
| rs1422918812 | 1334 | Q>H | No | gnomAD | |
|
RCV001978848 rs192254917 |
1334 | Q>R | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1448317248 | 1335 | G>S | No | Ensembl | |
| rs1178490485 | 1336 | L>P | No | gnomAD | |
| rs563315102 | 1336 | L>V | No |
1000Genomes ExAC gnomAD |
|
| rs1257983321 | 1337 | K>R | No | gnomAD | |
| rs2024268209 | 1338 | Q>* | No | Ensembl | |
| rs2144066627 | 1340 | A>V | No | Ensembl | |
| rs1337437703 | 1341 | R>G | No | gnomAD | |
| rs1456855247 | 1341 | R>S | No | gnomAD | |
|
RCV001976742 rs2024227992 |
1344 | E>K | No |
ClinVar TOPMed dbSNP |
|
| rs370647174 | 1346 | Q>* | No |
ESP TOPMed gnomAD |
|
| rs754270014 | 1347 | L>P | No |
ExAC gnomAD |
|
| TCGA novel | 1349 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568610957 RCV002047983 |
1349 | A>V | No |
ClinVar Ensembl dbSNP |
|
| rs766614342 | 1351 | S>I | No |
ExAC gnomAD |
|
| rs2024227784 | 1352 | L>M | No |
TOPMed gnomAD |
|
| rs1568610955 | 1353 | E>K | No | Ensembl | |
| rs1475570754 | 1354 | H>L | No |
TOPMed gnomAD |
|
| rs1475570754 | 1354 | H>R | No |
TOPMed gnomAD |
|
| rs1167459481 | 1354 | H>Y | No | gnomAD | |
| rs1390350411 | 1355 | E>K | No |
TOPMed gnomAD |
|
| rs1185296346 | 1356 | E>Q | No | gnomAD | |
| COSM1388948 | 1357 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs376772881 | 1359 | E>G | No |
ESP ExAC gnomAD |
|
| rs756343557 | 1359 | E>K | No |
ExAC gnomAD |
|
| rs1369784870 | 1360 | H>Y | No | TOPMed | |
| rs1264355256 | 1364 | Q>E | No | gnomAD | |
| rs1015045981 | 1365 | L>F | No | TOPMed | |
| rs1488123598 | 1366 | E>K | No |
TOPMed gnomAD |
|
| rs1488123598 | 1366 | E>Q | No |
TOPMed gnomAD |
|
| COSM5854223 | 1367 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV002049068 rs2144060864 |
1367 | A>V | No |
ClinVar Ensembl dbSNP |
|
| rs377725328 | 1372 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1346955163 | 1372 | M>V | No | gnomAD | |
| rs2024226819 | 1373 | D>V | No | TOPMed | |
|
RCV001386806 rs990825035 |
1376 | Q>* | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
RCV002031263 rs990825035 |
1376 | Q>K | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1598833811 | 1378 | T>P | No | Ensembl | |
| rs1483221005 | 1379 | F>V | No |
TOPMed gnomAD |
|
| rs2024226542 | 1380 | C>R | No | Ensembl | |
| rs1297511440 | 1382 | T>A | No | gnomAD | |
|
rs145598498 RCV001966572 |
1382 | T>K | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1436075271 | 1384 | L>M | No | gnomAD | |
| rs2024226320 | 1384 | L>P | No | Ensembl | |
| rs1186357424 | 1386 | S>F | No |
TOPMed gnomAD |
|
| rs2144060734 | 1386 | S>T | No | Ensembl | |
| rs1048982330 | 1388 | E>A | No |
TOPMed gnomAD |
|
| rs1048982330 | 1388 | E>G | No |
TOPMed gnomAD |
|
| rs771492606 | 1389 | A>T | No |
ExAC gnomAD |
|
| rs2024226065 | 1390 | Q>K | No | Ensembl | |
| rs748585406 | 1391 | V>E | No |
ExAC TOPMed gnomAD |
|
| rs2024225973 | 1392 | E>G | No |
TOPMed gnomAD |
|
| rs779390956 | 1393 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs749634410 | 1394 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs755540100 | 1394 | G>S | No |
ExAC gnomAD |
|
|
rs200614244 RCV001892289 |
1395 | V>I | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs200614244 | 1395 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs756320306 | 1396 | Q>R | No |
ExAC gnomAD |
|
| COSM3891095 | 1398 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750633142 | 1398 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs750633142 | 1398 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1342870780 | 1399 | I>V | No | gnomAD | |
| rs1297190880 | 1400 | S>A | No |
TOPMed gnomAD |
|
| rs767577269 | 1400 | S>F | No |
ExAC gnomAD |
|
|
rs199709301 RCV001881729 |
1401 | R>W | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs200110215 RCV001966892 |
1404 | N>K | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs759585385 | 1404 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs759585385 | 1404 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs997587136 | 1405 | E>D | No | Ensembl | |
|
rs1413252998 COSM2878950 |
1405 | E>K | ovary [Cosmic] | No |
cosmic curated gnomAD |
| rs1413252998 | 1405 | E>Q | No | gnomAD | |
| TCGA novel | 1408 | D>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2024174709 | 1408 | D>V | No | Ensembl | |
|
COSM3526165 rs1016421905 |
1409 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
| rs1016421905 | 1409 | L>V | No | TOPMed | |
| rs753731801 | 1415 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs868501105 | 1417 | E>G | No | Ensembl | |
|
rs763072671 RCV001918899 |
1418 | K>N | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1179143403 | 1419 | N>K | No | gnomAD | |
| rs760381326 | 1419 | N>Y | No |
ExAC gnomAD |
|
| rs775700108 | 1420 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1401238178 | 1420 | E>K | No | TOPMed | |
| rs1598830922 | 1421 | R>T | No | Ensembl | |
| rs748407591 | 1423 | L>F | No | TOPMed | |
| COSM3989575 | 1424 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs200235904 RCV002040918 |
1424 | K>R | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1390056441 | 1425 | K>N | No | gnomAD | |
| rs2024174094 | 1425 | K>R | No | Ensembl | |
| rs767136619 | 1426 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs761493949 | 1427 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs2024173935 | 1429 | I>M | No | Ensembl | |
| rs2041645636 | 1429 | I>N | No | TOPMed | |
| rs1309408146 | 1430 | Y>C | No | gnomAD | |
| rs773810603 | 1430 | Y>H | No |
ExAC TOPMed gnomAD |
|
| rs773810603 | 1430 | Y>N | No |
ExAC TOPMed gnomAD |
|
| rs1240058774 | 1431 | M>L | No | gnomAD | |
| rs765352662 | 1432 | K>E | No | Ensembl | |
| rs2098788051 | 1435 | Q>L | No |
TOPMed gnomAD |
|
| rs2098788051 | 1435 | Q>R | No |
TOPMed gnomAD |
|
| rs763463605 | 1436 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1232304843 | 1436 | D>N | No | TOPMed | |
| rs547768529 | 1440 | A>T | No |
1000Genomes ExAC gnomAD |
|
| rs2024141557 | 1444 | A>T | No | Ensembl | |
| rs1263465065 | 1444 | A>V | No |
TOPMed gnomAD |
|
| rs1455622753 | 1445 | Q>H | No |
TOPMed gnomAD |
|
| rs1598828938 | 1446 | S>G | No | Ensembl | |
| rs1192238746 | 1446 | S>N | No |
TOPMed gnomAD |
|
| rs773563361 | 1446 | S>R | No |
ExAC gnomAD |
|
| rs1192238746 | 1446 | S>T | No |
TOPMed gnomAD |
|
| rs2144048806 | 1447 | E>D | No | Ensembl | |
| rs772394335 | 1447 | E>G | No |
ExAC gnomAD |
|
| rs2024141342 | 1447 | E>K | No | gnomAD | |
|
rs748156643 RCV001983951 |
1450 | R>C | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs748156643 | 1450 | R>G | No |
ExAC TOPMed gnomAD |
|
|
RCV002012944 rs779091130 |
1450 | R>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs779091130 | 1450 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs748156643 | 1450 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs568512218 | 1451 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs1341317037 | 1452 | E>K | No | gnomAD | |
| rs745828466 | 1453 | L>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2024140959 | 1454 | N>S | No | Ensembl | |
| rs370602740 | 1455 | R>M | No |
ESP TOPMed |
|
| rs2024140839 | 1456 | Q>H | No | gnomAD | |
| rs527698700 | 1458 | T>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs527698700 | 1458 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1598828878 | 1459 | V>G | No | Ensembl | |
| rs1466479782 | 1460 | Q>R | No | gnomAD | |
| rs1173909277 | 1461 | R>Q | No |
TOPMed gnomAD |
|
| rs763725719 | 1461 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2024140372 | 1464 | K>E | No | TOPMed | |
| rs2024140341 | 1464 | K>T | No | TOPMed | |
| rs2024140310 | 1466 | F>V | No | TOPMed | |
| rs1467023010 | 1468 | G>D | No | gnomAD | |
| rs2024140181 | 1469 | M>I | No | Ensembl | |
| rs752917039 | 1469 | M>L | No |
ExAC TOPMed gnomAD |
|
|
rs2144048662 RCV002032083 |
1469 | M>T | No |
ClinVar Ensembl dbSNP |
|
| rs752917039 | 1469 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs752105175 | 1471 | E>G | No |
ExAC gnomAD |
|
|
RCV001941374 rs571713501 |
1472 | Y>H | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1339562882 | 1473 | H>Y | No |
TOPMed gnomAD |
|
| rs551829659 | 1477 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA TOPMed gnomAD |
| rs2024139783 | 1480 | L>V | No | Ensembl | |
| rs767059485 | 1481 | I>L | No |
ExAC gnomAD |
|
| rs2024139712 | 1481 | I>N | No | Ensembl | |
|
rs531744417 RCV001346128 |
1482 | R>W | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2024139435 | 1484 | L>P | No | Ensembl | |
| rs924732532 | 1485 | V>M | No | TOPMed | |
|
RCV001910348 rs200737204 |
1487 | D>N | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs199811777 RCV002200393 |
1487 | D>V | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2276170 | 1488 | L>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1435304299 | 1488 | L>V | No | gnomAD | |
| rs1015527533 | 1489 | K>N | No | Ensembl | |
| rs372708509 | 1490 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs372708509 | 1490 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1220627137 | 1491 | Q>E | No |
TOPMed gnomAD |
|
| rs2024085692 | 1492 | M>I | No | Ensembl | |
| rs1217438478 | 1492 | M>T | No | gnomAD | |
|
RCV001948679 rs1029533871 COSM5942789 |
1495 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs150584932 | 1497 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001876847 rs2144041828 |
1498 | P>A | No |
ClinVar Ensembl dbSNP |
|
| rs754725045 | 1499 | C>R | No |
ExAC TOPMed gnomAD |
|
| rs1185621779 | 1499 | C>Y | No | TOPMed | |
| rs67244969 | 1500 | L>F | No | 1000Genomes | |
|
COSM3362539 rs67244969 |
1500 | L>I | kidney [Cosmic] | No |
cosmic curated 1000Genomes |
| COSM3526162 | 1501 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1363347292 | 1501 | P>S | No |
TOPMed gnomAD |
|
| rs376839918 | 1502 | A>T | No |
ExAC TOPMed gnomAD |
|
|
RCV002036930 rs141749368 |
1502 | A>V | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs767708503 | 1503 | Y>* | No |
ExAC gnomAD |
|
| rs1157320357 | 1503 | Y>C | No |
TOPMed gnomAD |
|
| rs1954990127 | 1504 | I>S | No | TOPMed | |
| rs762237662 | 1504 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs2024084856 | 1505 | L>P | No | TOPMed | |
| rs2024084749 | 1506 | Y>C | No | TOPMed | |
| rs775496187 | 1507 | M>I | No |
ExAC gnomAD |
|
| rs764280516 | 1507 | M>L | No |
ExAC gnomAD |
|
| rs763205160 | 1507 | M>T | No |
ExAC gnomAD |
|
| rs769873177 | 1508 | C>S | No |
ExAC gnomAD |
|
|
rs199865159 RCV002014645 |
1510 | R>Q | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs192784103 RCV001325229 |
1510 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs778610471 | 1512 | A>E | No |
ExAC TOPMed gnomAD |
|
|
rs371788153 RCV001992425 |
1512 | A>T | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs778610471 COSM4652979 |
1512 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs748972874 | 1513 | D>E | No | ExAC | |
| rs1400284029 | 1513 | D>Y | No | gnomAD | |
| rs779653326 | 1514 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs779653326 | 1514 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs1227386948 | 1514 | Y>N | No | TOPMed | |
| rs745439435 | 1516 | N>D | No |
ExAC gnomAD |
|
| rs781717779 | 1516 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs928786813 | 1517 | D>G | No | Ensembl | |
| rs1468587264 | 1517 | D>H | No |
TOPMed gnomAD |
|
| rs1468587264 | 1517 | D>N | No |
TOPMed gnomAD |
|
| rs1477657062 | 1518 | D>G | No | gnomAD | |
|
rs764462158 RCV002029998 |
1518 | D>N | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs752917500 | 1519 | L>H | No |
ExAC TOPMed gnomAD |
|
| rs1240416465 | 1519 | L>I | No | gnomAD | |
| rs752917500 | 1519 | L>P | No |
ExAC TOPMed gnomAD |
|
|
RCV002040033 rs765506377 |
1520 | K>E | No |
ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 1520 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs917623992 | 1520 | K>R | No | TOPMed | |
| rs1568606097 | 1521 | V>M | No | Ensembl | |
| rs1202748071 | 1522 | H>Y | No | gnomAD | |
| rs749142442 | 1523 | S>F | No | Ensembl | |
| rs2024082943 | 1527 | S>F | No |
TOPMed gnomAD |
|
| rs774148153 | 1528 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs2024082749 | 1528 | T>I | No | Ensembl | |
| rs2024082749 | 1528 | T>N | No | Ensembl | |
| rs774148153 | 1528 | T>P | No |
ExAC TOPMed gnomAD |
|
|
rs1267829065 RCV001984226 |
1529 | I>S | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2024082709 | 1529 | I>V | No |
TOPMed gnomAD |
|
| rs768586629 | 1530 | N>S | No |
ExAC gnomAD |
|
|
RCV001302209 rs371865430 |
1531 | G>D | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs775277216 | 1531 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1402902569 | 1532 | I>F | No | gnomAD | |
| rs368336546 | 1532 | I>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs202232356 | 1535 | V>A | No |
1000Genomes TOPMed gnomAD |
|
| rs202232356 | 1535 | V>D | No |
1000Genomes TOPMed gnomAD |
|
| rs2024082293 | 1535 | V>F | No | Ensembl | |
| rs745540908 | 1538 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs1161759056 | 1540 | N>S | No |
TOPMed gnomAD |
|
| rs776146545 | 1541 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs770349806 | 1542 | D>V | No |
ExAC gnomAD |
|
| rs778235752 | 1544 | E>D | No |
ExAC gnomAD |
|
| rs1231001143 | 1546 | T>A | No | gnomAD | |
|
RCV002085396 rs200907971 |
1546 | T>M | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs200907971 | 1546 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1290326169 | 1547 | S>* | No | gnomAD | |
| rs1290326169 | 1547 | S>L | No | gnomAD | |
| rs755178088 | 1548 | F>L | No |
ExAC gnomAD |
|
| rs1356420758 | 1548 | F>L | No |
TOPMed gnomAD |
|
| rs754021420 | 1549 | W>C | No |
ExAC gnomAD |
|
| rs780116737 | 1550 | L>F | No |
ExAC gnomAD |
|
| rs573278576 | 1552 | N>S | No |
1000Genomes ExAC gnomAD |
|
| rs573278576 | 1552 | N>T | No |
1000Genomes ExAC gnomAD |
|
| rs1372323317 | 1553 | T>A | No |
TOPMed gnomAD |
|
| rs965926465 | 1554 | C>G | No | Ensembl | |
| rs1018431496 | 1554 | C>S | No |
TOPMed gnomAD |
|
| rs750589594 | 1555 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs763029595 | 1555 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs752503224 | 1556 | L>F | No |
ExAC gnomAD |
|
| rs752503224 | 1556 | L>V | No |
ExAC gnomAD |
|
| rs759158159 | 1557 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs776141062 | 1557 | L>H | No |
ExAC TOPMed gnomAD |
|
| rs770671276 | 1558 | H>Y | No | ExAC | |
|
rs1267776571 RCV001881046 |
1559 | C>S | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1568605069 | 1560 | L>M | No | Ensembl | |
| rs2144038061 | 1565 | G>E | No | Ensembl | |
| rs748675289 | 1565 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs577687263 | 1566 | D>N | No |
1000Genomes ExAC gnomAD |
|
| rs768908812 | 1567 | E>D | No |
ExAC gnomAD |
|
| rs2144038053 | 1567 | E>K | No | 1000Genomes | |
| rs199737949 | 1568 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs749594795 | 1570 | M>K | No |
ExAC TOPMed gnomAD |
|
| rs749594795 | 1570 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs1304481594 | 1572 | Q>E | No | gnomAD | |
| rs775966738 | 1572 | Q>L | No |
ExAC gnomAD |
|
| TCGA novel | 1573 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1415369457 | 1574 | T>I | No |
TOPMed gnomAD |
|
| rs746119015 | 1575 | A>E | No |
ExAC gnomAD |
|
| rs1568604191 | 1576 | K>E | No | Ensembl | |
| rs781366616 | 1576 | K>N | No |
ExAC gnomAD |
|
| rs1377145246 | 1580 | H>Y | No |
TOPMed gnomAD |
|
| rs1028268632 | 1582 | L>H | No | Ensembl | |
| rs1714120083 | 1584 | N>S | No | TOPMed | |
| rs1598822435 | 1588 | T>I | No | Ensembl | |
|
rs762039116 RCV001957470 |
1589 | E>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs202078177 | 1590 | Y>* | No | Ensembl | |
| rs2024026950 | 1590 | Y>C | No | Ensembl | |
| rs1415396218 | 1591 | R>C | No | gnomAD | |
| rs753535746 | 1591 | R>H | No |
ExAC gnomAD |
|
| rs548299677 | 1592 | Q>H | No |
1000Genomes ExAC gnomAD |
|
| rs2144034762 | 1595 | S>N | No | Ensembl | |
| rs1200930854 | 1595 | S>R | No | gnomAD | |
| rs2024026497 | 1596 | D>N | No | TOPMed | |
| rs2024026389 | 1598 | S>P | No | TOPMed | |
| TCGA novel | 1600 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1251000227 | 1600 | Q>R | No | gnomAD | |
| rs2024026273 | 1601 | I>F | No | TOPMed | |
| rs761299651 | 1601 | I>T | No |
ExAC gnomAD |
|
| rs1323557387 | 1603 | Q>L | No |
TOPMed gnomAD |
|
| rs2024026129 | 1604 | Q>E | No | Ensembl | |
| rs2024026087 | 1604 | Q>H | No | TOPMed | |
| rs774565391 | 1606 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs1213697261 | 1606 | I>S | No | TOPMed | |
| rs774565391 | 1606 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1246614187 | 1609 | A>D | No |
TOPMed gnomAD |
|
| rs1246614187 | 1609 | A>V | No |
TOPMed gnomAD |
|
| rs763549542 | 1610 | E>K | No |
ExAC TOPMed gnomAD |
|
|
RCV002015126 rs374782805 |
1611 | G>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2024025630 | 1613 | L>F | No | TOPMed | |
| rs776975234 | 1615 | P>L | No |
ExAC TOPMed gnomAD |
|
|
COSM1680357 rs776975234 |
1615 | P>Q | kidney [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1460205557 | 1615 | P>S | No | gnomAD | |
| rs1444502225 | 1616 | M>I | No |
TOPMed gnomAD |
|
| rs2024025483 | 1616 | M>T | No |
TOPMed gnomAD |
|
| rs2024007953 | 1620 | A>P | No |
TOPMed gnomAD |
|
| rs2024007819 | 1621 | M>T | No | Ensembl | |
|
RCV002049484 rs1351872843 |
1621 | M>V | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs77401395 | 1625 | E>* | No | Ensembl | |
| rs771235825 | 1625 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| COSM988783 | 1627 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2024007644 | 1628 | Q>* | No | TOPMed | |
| TCGA novel | 1630 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2024007609 | 1631 | S>F | No | Ensembl | |
| rs889378145 | 1631 | S>P | No |
TOPMed gnomAD |
|
| rs1405215615 | 1632 | G>A | No |
TOPMed gnomAD |
|
| rs1051156054 | 1632 | G>R | No | TOPMed | |
| rs1287513841 | 1633 | V>M | No | TOPMed | |
| rs760972277 | 1634 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs748242455 | 1637 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs779955003 | 1638 | Y>S | No |
ExAC gnomAD |
|
| rs546240591 | 1639 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001981812 rs375780015 |
1639 | R>W | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs780999931 | 1641 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs756813138 | 1641 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1568603467 | 1643 | S>C | No | Ensembl | |
| rs751241323 | 1644 | S>G | No |
ExAC gnomAD |
|
| rs2024006804 | 1644 | S>N | No | gnomAD | |
| rs751241323 | 1644 | S>R | No |
ExAC gnomAD |
|
| rs1473920990 | 1645 | M>T | No | TOPMed | |
| rs777084765 | 1645 | M>V | No | ExAC | |
|
RCV001876913 rs1430496487 |
1646 | A>S | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1430496487 | 1646 | A>T | No |
TOPMed gnomAD |
|
| rs757908690 | 1646 | A>V | No |
ExAC gnomAD |
|
| rs2024006586 | 1648 | G>A | No | Ensembl | |
| rs2024006621 | 1648 | G>R | No | Ensembl | |
| rs752193239 | 1649 | D>G | No |
ExAC gnomAD |
|
|
RCV002022961 rs2024006486 |
1649 | D>N | No |
ClinVar Ensembl dbSNP |
|
| rs1194010044 | 1650 | N>K | No | gnomAD | |
| rs2024006279 | 1652 | Y>C | No | TOPMed | |
| rs866197728 | 1653 | C>G | No | Ensembl | |
| rs866197728 | 1653 | C>R | No | Ensembl | |
|
RCV002035211 rs2144032376 |
1655 | E>G | No |
ClinVar Ensembl dbSNP |
|
| rs75537257 | 1657 | I>F | No |
ExAC TOPMed gnomAD |
|
|
rs766861389 RCV002008181 |
1659 | R>C | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs372387496 RCV001889207 |
1659 | R>H | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs772242451 | 1661 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs2144032342 | 1663 | A>T | No | Ensembl | |
| rs368237603 | 1664 | F>S | No |
ESP ExAC TOPMed |
|
| rs2024005729 | 1665 | H>R | No | TOPMed | |
| rs2024005648 | 1666 | T>K | No | TOPMed | |
| rs1598821087 | 1667 | V>I | No | Ensembl | |
| rs2024005433 | 1668 | M>I | No | TOPMed | |
| rs969988408 | 1668 | M>L | No |
TOPMed gnomAD |
|
| rs774456015 | 1668 | M>T | No |
ExAC gnomAD |
|
| rs969988408 | 1668 | M>V | No |
TOPMed gnomAD |
|
| rs1325391814 | 1669 | C>R | No | gnomAD | |
| rs1316824138 | 1669 | C>Y | No | gnomAD | |
| rs769679742 | 1670 | D>V | No |
ExAC gnomAD |
|
| rs375529250 | 1671 | Q>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs375529250 | 1671 | Q>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1336492853 | 1671 | Q>R | No | gnomAD | |
|
rs780910211 RCV001990127 |
1672 | G>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs367710844 | 1673 | L>S | No |
ExAC gnomAD |
|
| rs2024004963 | 1674 | D>E | No | TOPMed | |
| rs758022597 | 1675 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2024004869 | 1675 | P>R | No | TOPMed | |
| rs758022597 | 1675 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs752212773 | 1677 | I>V | No |
ExAC gnomAD |
|
| rs1202809704 | 1680 | Q>L | No | gnomAD | |
| rs2024004591 | 1681 | V>A | No | Ensembl | |
| rs1598821029 | 1682 | F>C | No | Ensembl | |
| rs755484254 | 1682 | F>L | No |
ExAC gnomAD |
|
|
RCV001351798 rs2024004434 |
1683 | K>N | No |
ClinVar Ensembl dbSNP |
|
| rs766862373 | 1684 | Q>L | No |
ExAC gnomAD |
|
| rs756487835 | 1685 | L>F | No |
ExAC gnomAD |
|
| rs1267969671 | 1687 | Y>C | No |
TOPMed gnomAD |
|
| rs1444332655 | 1688 | M>I | No | TOPMed | |
| rs112417235 | 1688 | M>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2024003876 | 1689 | I>T | No |
TOPMed gnomAD |
|
| rs1208368731 | 1689 | I>V | No |
TOPMed gnomAD |
|
| rs1015340191 | 1690 | N>D | No | Ensembl | |
| rs1295153970 | 1690 | N>S | No | gnomAD | |
| rs1314742226 | 1691 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| COSM4072429 | 1691 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1693 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1450954647 | 1693 | T>S | No | gnomAD | |
| rs2024003337 | 1697 | L>P | No | TOPMed | |
| rs768231362 | 1699 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs772909385 | 1700 | R>G | No |
ExAC gnomAD |
|
|
rs771703731 RCV001991013 |
1700 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA dbSNP |
| rs772909385 | 1700 | R>W | No |
ExAC gnomAD |
|
| rs778498719 | 1702 | D>N | No |
ExAC TOPMed |
|
| rs778498719 | 1702 | D>Y | No |
ExAC TOPMed |
|
|
rs138128932 RCV002145711 |
1703 | V>A | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs748864584 | 1703 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs987911570 | 1712 | L>F | No |
TOPMed gnomAD |
|
| rs763078498 | 1714 | Y>* | No |
1000Genomes ExAC gnomAD |
|
| rs1183088441 | 1714 | Y>C | No | gnomAD | |
|
rs748776509 COSM438169 |
1716 | I>V | liver Variant assessed as Somatic; MODERATE impact. breast [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs1223599042 | 1717 | S>R | No | gnomAD | |
| rs779461811 | 1718 | Q>* | No |
ExAC gnomAD |
|
| rs955089734 | 1719 | L>F | No |
TOPMed gnomAD |
|
| rs1234718744 | 1720 | E>K | No | gnomAD | |
| rs1205721096 | 1720 | E>V | No | gnomAD | |
| rs756596410 | 1722 | W>C | No |
ExAC gnomAD |
|
| rs746376479 | 1724 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs201349623 | 1724 | R>W | No |
TOPMed gnomAD |
|
| rs2023993425 | 1726 | R>G | No | Ensembl | |
| TCGA novel | 1728 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2023993263 | 1730 | Q>H | No | Ensembl | |
|
rs2144030861 RCV001978219 |
1730 | Q>L | No |
ClinVar Ensembl dbSNP |
|
| rs1598820311 | 1731 | S>R | No | Ensembl | |
| rs751983071 | 1732 | G>R | No |
ExAC gnomAD |
|
| rs200580023 | 1733 | A>V | No | Ensembl | |
| rs1568602881 | 1735 | Q>K | No | gnomAD | |
| TCGA novel | 1735 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765242704 | 1737 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs1487106819 | 1738 | E>K | No | gnomAD | |
| TCGA novel | 1739 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs79628339 | 1742 | Q>E | No | Ensembl | |
| rs760592789 | 1742 | Q>P | No |
ExAC gnomAD |
|
| rs369795927 | 1744 | A>P | No |
ESP TOPMed |
|
| rs767619758 | 1746 | L>F | No |
ExAC TOPMed gnomAD |
|
|
rs767619758 RCV001964452 |
1746 | L>I | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs767619758 | 1746 | L>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1749 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs267605195 | 1750 | K>N | No |
ExAC gnomAD |
|
| rs768384576 | 1751 | K>N | No |
ExAC gnomAD |
|
|
rs2144030735 RCV001907279 |
1752 | K>missing | No |
ClinVar dbSNP |
|
| rs2023992340 | 1753 | T>S | No | Ensembl | |
| rs1058514 | 1756 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1281404436 | 1756 | D>N | No |
TOPMed gnomAD |
|
| rs200931302 | 1757 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| COSM417831 | 1758 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs745453435 | 1759 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2023992128 | 1759 | A>T | No | TOPMed | |
| rs371559656 | 1760 | I>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs371559656 | 1760 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1386176169 | 1761 | C>R | No | gnomAD | |
|
rs771481649 RCV002030164 |
1761 | C>Y | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1289515329 | 1764 | C>S | No |
TOPMed gnomAD |
|
| rs1370492826 | 1765 | T>I | No | gnomAD | |
| rs1598820199 | 1765 | T>P | No | Ensembl | |
| rs867719821 | 1766 | S>F | No |
TOPMed gnomAD |
|
| rs1468835820 | 1767 | L>F | No | Ensembl | |
| rs778129470 | 1767 | L>H | No |
ExAC gnomAD |
|
| rs1419668154 | 1769 | T>P | No |
TOPMed gnomAD |
|
| rs1419668154 | 1769 | T>S | No |
TOPMed gnomAD |
|
| rs1186428023 | 1771 | Q>E | No | gnomAD | |
| rs758555491 | 1771 | Q>R | No |
ExAC gnomAD |
|
| rs1057348409 | 1772 | I>V | No |
TOPMed gnomAD |
|
| rs1598819273 | 1774 | K>N | No | Ensembl | |
| rs1170647793 | 1775 | I>L | No | TOPMed | |
| rs1598819263 | 1775 | I>M | No | Ensembl | |
| TCGA novel | 1776 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1483435825 | 1777 | N>K | No | gnomAD | |
| COSM3821537 | 1778 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1058518 | 1779 | Y>* | No | Ensembl | |
| rs530491680 | 1785 | F>S | No | gnomAD | |
| rs1310393170 | 1788 | R>Q | No |
TOPMed gnomAD |
|
| COSM213971 | 1788 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs374025628 RCV001987448 |
1790 | T>I | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1297070373 | 1791 | V>A | No |
TOPMed gnomAD |
|
| rs1373642142 | 1791 | V>M | No | gnomAD | |
|
rs202090244 RCV001992652 |
1792 | A>D | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs202090244 | 1792 | A>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1407420528 | 1792 | A>T | No | gnomAD | |
| rs1424661344 | 1793 | F>L | No |
TOPMed gnomAD |
|
| rs1424661344 | 1793 | F>V | No |
TOPMed gnomAD |
|
| rs1598819212 | 1794 | I>T | No | Ensembl | |
| rs748430336 | 1794 | I>V | No |
ExAC gnomAD |
|
|
rs377364712 RCV001889141 |
1795 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs199948930 | 1795 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs371592622 | 1796 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1269761733 | 1797 | I>V | No | gnomAD | |
| rs2144028656 | 1798 | Q>H | No | Ensembl | |
| rs1283311504 | 1799 | A>E | No | gnomAD | |
| rs1302647511 | 1801 | L>V | No |
TOPMed gnomAD |
|
| rs1222405497 | 1802 | Q>H | No | gnomAD | |
| rs201080553 | 1804 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs771842098 | 1804 | R>W | No |
ExAC TOPMed gnomAD |
|
|
rs2144012441 RCV002004478 |
1805 | N>S | No |
ClinVar Ensembl dbSNP |
|
| rs754801055 | 1806 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs762043231 | 1806 | D>G | No | Ensembl | |
|
rs2144012431 RCV001944027 |
1806 | D>N | No |
ClinVar Ensembl dbSNP |
|
| rs2023849729 | 1807 | P>L | No | TOPMed | |
| rs2023849729 | 1807 | P>R | No | TOPMed | |
| rs2023849791 | 1807 | P>S | No | gnomAD | |
| rs1384690428 | 1808 | Q>H | No | gnomAD | |
| rs2023849595 | 1810 | L>V | No | TOPMed | |
| rs879203212 | 1814 | A>V | No | Ensembl | |
| rs752091463 | 1815 | K>R | No |
ExAC gnomAD |
|
| rs752091463 | 1815 | K>T | No |
ExAC gnomAD |
|
| rs1058527 | 1816 | H>Q | No | Ensembl | |
| COSM3526160 | 1817 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2023849083 | 1818 | F>S | No | TOPMed | |
| rs1239954194 | 1819 | P>L | No | TOPMed | |
| rs2023849041 | 1819 | P>S | No | TOPMed | |
| rs2023848957 | 1820 | V>I | No |
TOPMed gnomAD |
|
| rs2023848957 | 1820 | V>L | No |
TOPMed gnomAD |
|
| TCGA novel | 1821 | L>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs557865582 | 1821 | L>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2023848908 | 1821 | L>V | No | Ensembl | |
| rs776043385 | 1822 | F>L | No |
ExAC TOPMed gnomAD |
|
| COSM262260 | 1823 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2023848706 | 1824 | F>I | No | Ensembl | |
| rs1058532 | 1825 | N>H | No |
TOPMed gnomAD |
|
| rs770089178 | 1825 | N>S | No |
ExAC gnomAD |
|
| rs1058532 | 1825 | N>Y | No |
TOPMed gnomAD |
|
| COSM1388941 | 1828 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776519992 | 1829 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1287159742 | 1831 | M>I | No | Ensembl | |
| rs752755386 | 1831 | M>T | No | gnomAD | |
| rs1228704721 | 1831 | M>V | No |
TOPMed gnomAD |
|
| rs1058536 | 1832 | D>E | No | TOPMed | |
| rs747128312 | 1833 | S>* | No |
ExAC gnomAD |
|
| COSM438168 | 1833 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1454890848 | 1834 | I>F | No | gnomAD | |
| rs2144012124 | 1835 | H>Y | No | 1000Genomes | |
| rs749035019 | 1838 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs1336307050 | 1838 | A>T | No |
TOPMed gnomAD |
|
|
RCV002041670 rs749035019 |
1838 | A>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs372086249 | 1839 | C>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs750103484 | 1841 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs750103484 | 1841 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1058543 | 1843 | E>D | No |
ExAC gnomAD |
|
| rs756785447 | 1843 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs756785447 | 1843 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1424349321 | 1844 | F>L | No | gnomAD | |
|
rs764637027 RCV001908597 |
1845 | L>F | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1186391656 | 1846 | N>D | No |
TOPMed gnomAD |
|
| rs1198520305 | 1846 | N>I | No |
TOPMed gnomAD |
|
| rs1198520305 | 1846 | N>S | No |
TOPMed gnomAD |
|
| rs1440339373 | 1848 | V>I | No |
TOPMed gnomAD |
|
| rs1555792377 | 1849 | V>D | No | ESP | |
| rs775640644 | 1849 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2023847337 | 1849 | V>R | No | gnomAD |
2 associated diseases with Q9ULV0
[MIM: 251850]: Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2)
A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized
[MIM: 619868]: Cholestasis, progressive familial intrahepatic, 10 (PFIC10)
A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC10 is an autosomal recessive form with highly variable phenotype and severity, manifesting in the first months or years of life. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized
- A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC10 is an autosomal recessive form with highly variable phenotype and severity, manifesting in the first months or years of life. . Note=The disease is caused by variants affecting the gene represented in this entry.
11 regional properties for Q9ULV0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| binding_site | IQ motif, EF-hand binding site | 763 - 785 | IPR000048-1 |
| binding_site | IQ motif, EF-hand binding site | 786 - 808 | IPR000048-2 |
| binding_site | IQ motif, EF-hand binding site | 811 - 833 | IPR000048-3 |
| binding_site | IQ motif, EF-hand binding site | 834 - 856 | IPR000048-4 |
| binding_site | IQ motif, EF-hand binding site | 859 - 881 | IPR000048-5 |
| binding_site | IQ motif, EF-hand binding site | 882 - 904 | IPR000048-6 |
| domain | Myosin head, motor domain | 63 - 762 | IPR001609 |
| domain | Dilute domain | 1526 - 1803 | IPR002710 |
| domain | Myosin, N-terminal, SH3-like | 8 - 60 | IPR004009 |
| domain | Class V myosin, motor domain | 83 - 749 | IPR036103 |
| domain | Myosin 5b, cargo-binding domain | 1474 - 1845 | IPR037990 |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| apical cortex | The region that lies just beneath the plasma membrane on the apical edge of a cell. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
| myosin complex | A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| microfilament motor activity | A motor activity that generates movement along a microfilament, driven by ATP hydrolysis. |
| small GTPase binding | Binding to a small monomeric GTPase. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
| endosomal transport | The directed movement of substances mediated by an endosome, a membrane-bounded organelle that carries materials enclosed in the lumen or located in the endosomal membrane. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| renal water homeostasis | Renal process involved in the maintenance of an internal steady state of water in the body. |
| vesicle transport along actin filament | Movement of a vesicle along an actin filament, mediated by motor proteins. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q27991 | MYH10 | Myosin-10 | Bos taurus (Bovine) | SS |
| Q02440 | MYO5A | Unconventional myosin-Va | Gallus gallus (Chicken) | SS |
| Q5U651 | RASIP1 | Ras-interacting protein 1 | Homo sapiens (Human) | PR |
| P35580 | MYH10 | Myosin-10 | Homo sapiens (Human) | SS |
| B0I1T2 | MYO1G | Unconventional myosin-Ig | Homo sapiens (Human) | PR |
| Q12965 | MYO1E | Unconventional myosin-Ie | Homo sapiens (Human) | PR |
| O00160 | MYO1F | Unconventional myosin-If | Homo sapiens (Human) | PR |
| Q9UM54 | MYO6 | Unconventional myosin-VI | Homo sapiens (Human) | EV |
| Q9Y4I1 | MYO5A | Unconventional myosin-Va | Homo sapiens (Human) | SS |
| Q9NQX4 | MYO5C | Unconventional myosin-Vc | Homo sapiens (Human) | SS |
| Q3U0S6 | Rasip1 | Ras-interacting protein 1 | Mus musculus (Mouse) | PR |
| Q61879 | Myh10 | Myosin-10 | Mus musculus (Mouse) | SS |
| Q99104 | Myo5a | Unconventional myosin-Va | Mus musculus (Mouse) | EV |
| P21271 | Myo5b | Unconventional myosin-Vb | Mus musculus (Mouse) | SS |
| Q9JLT0 | Myh10 | Myosin-10 | Rattus norvegicus (Rat) | SS |
| P70569 | Myo5b | Unconventional myosin-Vb | Rattus norvegicus (Rat) | SS |
| Q9M2K0 | XI-J | Myosin-16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSVGELYSQC | TRVWIPDPDE | VWRSAELTKD | YKEGDKSLQL | RLEDETILEY | PIDVQRNQLP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FLRNPDILVG | ENDLTALSYL | HEPAVLHNLK | VRFLESNHIY | TYCGIVLVAI | NPYEQLPIYG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QDVIYTYSGQ | NMGDMDPHIF | AVAEEAYKQM | ARDEKNQSII | VSGESGAGKT | VSAKYAMRYF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ATVGGSASET | NIEEKVLASS | PIMEAIGNAK | TTRNDNSSRF | GKYIQIGFDK | RYHIIGANMR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TYLLEKSRVV | FQADDERNYH | IFYQLCAAAG | LPEFKELALT | SAEDFFYTSQ | GGDTSIEGVD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DAEDFEKTRQ | AFTLLGVKES | HQMSIFKIIA | SILHLGSVAI | QAERDGDSCS | ISPQDVYLSN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FCRLLGVEHS | QMEHWLCHRK | LVTTSETYVK | TMSLQQVINA | RNALAKHIYA | QLFGWIVEHI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NKALHTSLKQ | HSFIGVLDIY | GFETFEVNSF | EQFCINYANE | KLQQQFNSHV | FKLEQEEYMK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EQIPWTLIDF | YDNQPCIDLI | EAKLGILDLL | DEECKVPKGT | DQNWAQKLYD | RHSSSQHFQK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PRMSNTAFII | VHFADKVEYL | SDGFLEKNRD | TVYEEQINIL | KASKFPLVAD | LFHDDKDPVP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ATTPGKGSSS | KISVRSARPP | MKVSNKEHKK | TVGHQFRTSL | HLLMETLNAT | TPHYVRCIKP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NDEKLPFHFD | PKRAVQQLRA | CGVLETIRIS | AAGYPSRWAY | HDFFNRYRVL | VKKRELANTD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KKAICRSVLE | NLIKDPDKFQ | FGRTKIFFRA | GQVAYLEKLR | ADKFRTATIM | IQKTVRGWLQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KVKYHRLKGA | TLTLQRYCRG | HLARRLAEHL | RRIRAAVVLQ | KHYRMQRARQ | AYQRVRRAAV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VIQAFTRAMF | VRRTYRQVLM | EHKATTIQKH | VRGWMARRHF | QRLRDAAIVI | QCAFRMLKAR |
| 910 | 920 | 930 | 940 | 950 | 960 |
| RELKALRIEA | RSAEHLKRLN | VGMENKVVQL | QRKIDEQNKE | FKTLSEQLSV | TTSTYTMEVE |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| RLKKELVHYQ | QSPGEDTSLR | LQEEVESLRT | ELQRAHSERK | ILEDAHSREK | DELRKRVADL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| EQENALLKDE | KEQLNNQILC | QSKDEFAQNS | VKENLMKKEL | EEERSRYQNL | VKEYSQLEQR |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| YDNLRDEMTI | IKQTPGHRRN | PSNQSSLESD | SNYPSISTSE | IGDTEDALQQ | VEEIGLEKAA |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| MDMTVFLKLQ | KRVRELEQER | KKLQVQLEKR | EQQDSKKVQA | EPPQTDIDLD | PNADLAYNSL |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| KRQELESENK | KLKNDLNELR | KAVADQATQN | NSSHGSPDSY | SLLLNQLKLA | HEELEVRKEE |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| VLILRTQIVS | ADQRRLAGRN | AEPNINARSS | WPNSEKHVDQ | EDAIEAYHGV | CQTNSKTEDW |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| GYLNEDGELG | LAYQGLKQVA | RLLEAQLQAQ | SLEHEEEVEH | LKAQLEALKE | EMDKQQQTFC |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| QTLLLSPEAQ | VEFGVQQEIS | RLTNENLDLK | ELVEKLEKNE | RKLKKQLKIY | MKKAQDLEAA |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| QALAQSERKR | HELNRQVTVQ | RKEKDFQGML | EYHKEDEALL | IRNLVTDLKP | QMLSGTVPCL |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| PAYILYMCIR | HADYTNDDLK | VHSLLTSTIN | GIKKVLKKHN | DDFEMTSFWL | SNTCRLLHCL |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| KQYSGDEGFM | TQNTAKQNEH | CLKNFDLTEY | RQVLSDLSIQ | IYQQLIKIAE | GVLQPMIVSA |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| MLENESIQGL | SGVKPTGYRK | RSSSMADGDN | SYCLEAIIRQ | MNAFHTVMCD | QGLDPEIILQ |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| VFKQLFYMIN | AVTLNNLLLR | KDVCSWSTGM | QLRYNISQLE | EWLRGRNLHQ | SGAVQTMEPL |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| IQAAQLLQLK | KKTQEDAEAI | CSLCTSLSTQ | QIVKILNLYT | PLNEFEERVT | VAFIRTIQAQ |
| 1810 | 1820 | 1830 | 1840 | ||
| LQERNDPQQL | LLDAKHMFPV | LFPFNPSSLT | MDSIHIPACL | NLEFLNEV |