Descriptions

Kinesin (KIF) motor proteins play a major role in the transport of intracellular cargo and in the regulation of microtubule (MT) organization and dynamics in an ATP-dependent fashion. A prototypic kinesin includes a conserved globular N-terminal motor domain, which binds to MTs, hydrolyses ATP and converts its chemical energy to mechanical work. The kinesin motor domain is typically followed by a stalk domain often consisting of α-helical coiled-coil regions that are important for dimerization and a tail domain containing the binding sites for cargo or kinesin-regulatory proteins.
Intramolecular antiparallel coiled coil in the stalk domain autoinhibits the kinesin motor domain, preventing its interaction with microtubules (MTs) and ATP hydrolysis, thus regulating intracellular transport and MT dynamics. Interaction of the KIF21A regulatory domain with the KIF21B motor domain and sequence similarities to KIF7 and KIF27 strongly suggest a conservation of this regulatory mechanism in other kinesin-4 family members.

Autoinhibitory domains (AIDs)

Target domain

7-379 (Kinesin motor domain)

Relief mechanism

Partner binding, Others

Assay

Structural analysis, Deletion assay, Split protein assay, Mutagenesis experiment

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

6 structures for Q7Z4S6

Entry ID Method Resolution Chain Position Source
5D3A X-ray 250 A A/B 938-1017 PDB
5NFD X-ray 218 A A/B 938-1017 PDB
5YBU X-ray 189 A B 1146-1167 PDB
5YBV X-ray 212 A C/D 1146-1167 PDB
7KLJ X-ray 152 A A/B 1337-1653 PDB
AF-Q7Z4S6-F1 Predicted AlphaFoldDB

1628 variants for Q7Z4S6

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001110640
rs1227646139
66 I>T Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs113878846
RCV002540804
RCV000910070
139 A>S Inborn genetic diseases [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001110639
COSM3376233
rs141530856
190 V>I Congenital fibrosis of extraocular muscles type 1 pancreas [ClinVar, Cosmic] Yes cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM2065225
CA6511235
rs770064077
RCV000287713
COSM1361328
193 R>H Congenital fibrosis of extraocular muscles type 1 Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV000389659
CA6511215
rs149328427
203 Q>R Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV003311584
rs267603451
236 Q>* Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinVar
dbSNP
gnomAD
VAR_074031 352 D>E CFEOM1; de novo mutation [UniProt] Yes UniProt
RCV002535307
rs768580958
RCV000732988
356 M>L Inborn genetic diseases [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs121912588
CA339982
RCV000002543
VAR_019399
356 M>T Congenital fibrosis of extraocular muscles type 1 CFEOM1 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000319726
rs745692702
RCV000903904
CA6511100
387 N>S Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000894701
CA6511073
RCV000262273
rs78616703
414 G>R Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs375541289
RCV001113865
427 M>V Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs886049345
CA10637334
RCV000354754
441 A>T Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000302061
rs149219011
CA6510978
RCV000954280
543 K>R Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6510911
RCV000289132
RCV001701946
rs79089655
627 G>V Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6510910
rs765856120
RCV000399984
629 S>I Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1555167299
RCV000497582
CA384401387
RCV003159607
664 L>P KIF21A-related condition [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs869025264
RCV000207402
CA351603
763 V>M Congenital aniridia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs200645253
CA6510851
RCV000352193
769 T>A Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000386473
rs779688115
CA6510787
811 L>F Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs764601859
CA6510771
RCV000281670
831 T>M Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs764601859
RCV001110553
COSM548312
831 T>R lung Congenital fibrosis of extraocular muscles type 1 [Cosmic, ClinVar] Yes cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001110552
COSM4575362
COSM4575363
rs1458182449
835 R>W Congenital fibrosis of extraocular muscles type 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] Yes NCI-TCGA Cosmic
ClinVar
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs145318959
COSM1163002
RCV001109765
887 A>V Congenital fibrosis of extraocular muscles type 1 pancreas [ClinVar, Cosmic] Yes cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001109764
RCV000894861
rs149718388
895 P>L Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs886049344
RCV000259437
CA10637329
915 I>T Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs749644826
CA6510695
RCV000361240
RCV003362752
928 R>C Congenital fibrosis of extraocular muscles type 1 Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000323422
rs886049343
CA10642076
933 I>N Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_074032 944 E>Q CFEOM1 [UniProt] Yes UniProt
RCV000002546
rs267607200
CA115556
947 M>I Fibrosis of extraocular muscles, congenital, 3b [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000002545
VAR_019400
CA252285
rs121912590
947 M>R Congenital fibrosis of extraocular muscles type 1 CFEOM1 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_027021 947 M>T CFEOM1 [UniProt] Yes UniProt
RCV000002544
rs121912589
VAR_019401
CA252284
947 M>V Congenital fibrosis of extraocular muscles type 1 CFEOM1 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_074033 954 R>L CFEOM1 [UniProt] Yes UniProt
rs121912586
RCV002254900
RCV000002541
CA115555
VAR_019402
RCV000002540
954 R>Q Congenital fibrosis of extraocular muscles type 1 Fibrosis of extraocular muscles, congenital, 3b CFEOM1 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000267056
rs121912585
RCV000002539
CA115554
RCV000002538
VAR_019403
RCV003398420
954 R>W Congenital fibrosis of extraocular muscles type 1 Variant assessed as Somatic; MODERATE impact. KIF21A-related condition Fibrosis of extraocular muscles, congenital, 3b CFEOM1 [ClinVar, NCI-TCGA, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
VAR_074034 1008 A>P CFEOM1 [UniProt] Yes UniProt
VAR_019404
rs121912587
RCV000002542
CA252283
1010 I>T Congenital fibrosis of extraocular muscles type 1 CFEOM1 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV001109763
rs1946526630
1028 V>I Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000310515
RCV000882518
CA6510607
rs142268373
1050 N>S Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs150294289
RCV000363848
CA6510558
RCV000904253
1111 V>A Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001113783
rs1316892081
1185 P>L Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000406843
rs149075970
CA6510462
1214 P>R Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000351593
rs75223821
CA6510438
1237 E>D Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs747176706
RCV001113782
1281 R>H Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000313138
CA10641128
rs886049342
1291 T>N Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs1565724893
RCV000779102
1293 S>missing Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinVar
dbSNP
rs1565724702
RCV000779101
1296 N>missing Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinVar
dbSNP
rs142879430
CA6510329
RCV000401978
1320 R>K Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000281544
rs886049341
CA10642067
1422 I>V Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
COSM1676830
COSM1676831
rs749290916
RCV002556197
RCV001112436
1423 R>Q Congenital fibrosis of extraocular muscles type 1 Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] Yes NCI-TCGA Cosmic
ClinVar
NCI-TCGA
dbSNP
gnomAD
rs781214904
RCV000373719
CA6510226
1426 T>M Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs748150530
CA6510167
RCV000335321
1491 H>Y Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000893947
rs62000373
RCV001111982
1505 S>R Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10641118
RCV000287324
rs886049340
1510 I>L Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA6510141
rs142038295
RCV000272319
1521 M>R Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001111981
rs1942967439
1605 G>E Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000326200
CA10642059
rs886049339
1631 A>T Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs373406994
RCV000268861
CA6510048
1654 R>L Congenital fibrosis of extraocular muscles type 1 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1939873512 2 L>S No Ensembl
rs998747931 2 L>V No TOPMed
gnomAD
rs1939873512 2 L>W No Ensembl
rs2140543663 4 A>S No Ensembl
rs2140543663 4 A>T No Ensembl
rs901772088 4 A>V No TOPMed
gnomAD
rs1269706987 5 P>A No gnomAD
rs942928510 7 E>D No TOPMed
gnomAD
rs1283389822 9 S>Y No gnomAD
rs1040577254 10 V>L No TOPMed
gnomAD
rs1040577254 10 V>M No TOPMed
gnomAD
rs1383184252 14 V>D No gnomAD
rs1422024452 14 V>I No TOPMed
gnomAD
rs1422024452 14 V>L No TOPMed
gnomAD
rs753835660 16 I>M No ExAC
TOPMed
gnomAD
rs1949861277 19 Q>* No TOPMed
gnomAD
rs1728873657 19 Q>H No TOPMed
rs1272892313 19 Q>R No TOPMed
gnomAD
rs1196836806 20 L>F No gnomAD
TCGA novel 20 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1344943070 21 A>V No gnomAD
rs1289975638 22 K>E No gnomAD
rs1036918539 23 E>K No TOPMed
gnomAD
TCGA novel 25 I>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs766144623 27 G>E No ExAC
gnomAD
rs864321718 28 C>W No gnomAD
rs146467179 29 H>R No ESP
ExAC
TOPMed
gnomAD
rs530120375 30 I>L No 1000Genomes
TOPMed
gnomAD
rs751744115 30 I>T No ExAC
gnomAD
rs530120375 30 I>V No 1000Genomes
TOPMed
gnomAD
rs376379819 31 C>S No ESP
ExAC
TOPMed
gnomAD
rs775439890 34 V>A No ExAC
TOPMed
gnomAD
rs775439890 34 V>G No ExAC
TOPMed
gnomAD
rs200140335 36 P>S No ESP
ExAC
TOPMed
gnomAD
rs200140335 36 P>T No ESP
ExAC
TOPMed
gnomAD
rs964997318
COSM321238
38 E>K lung [Cosmic] No cosmic curated
TOPMed
rs752560589 39 P>L No ExAC
TOPMed
gnomAD
rs1338137842 40 Q>H No TOPMed
rs1161423002 41 V>L No gnomAD
rs777328454 42 F>C No ExAC
gnomAD
rs747408878 44 G>A No ExAC
TOPMed
gnomAD
TCGA novel 46 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs201016471 47 K>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs1181921264 48 A>P No gnomAD
rs1181921264 48 A>T No gnomAD
rs778279184 50 T>A No ExAC
TOPMed
gnomAD
rs1949855738 54 V>L No Ensembl
rs749197486 56 D>G No ExAC
TOPMed
gnomAD
rs780002236 57 I>V No ExAC
TOPMed
gnomAD
TCGA novel 58 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM938955
COSM1651251
59 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1949854726 60 Q>R No TOPMed
rs1280148553 62 E>G No gnomAD
rs1196914694 64 I>F No TOPMed
gnomAD
rs1566011738 64 I>T No Ensembl
rs1227646139 66 I>S No gnomAD
rs1949853648 67 Q>R No TOPMed
rs1949853098 69 I>T No TOPMed
rs764312133 69 I>V No ExAC
gnomAD
rs375950963 70 E>D No ESP
ExAC
TOPMed
gnomAD
TCGA novel 74 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs753023239 74 E>K No ExAC
gnomAD
rs1949851973 75 G>A No Ensembl
TCGA novel 76 C>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1949851622 78 E>G No TOPMed
rs1411594155 81 N>D No TOPMed
gnomAD
rs1026082131 81 N>S No Ensembl
rs1949850968 83 T>A No Ensembl
rs1398535026 85 F>C No gnomAD
rs1949850637 85 F>L No TOPMed
gnomAD
TCGA novel 87 Y>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1476695099 98 M>V No TOPMed
TCGA novel
rs1949839293
99 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs757125466 100 T>I No ExAC
TOPMed
gnomAD
rs757125466 100 T>K No ExAC
TOPMed
gnomAD
rs752832786 101 G>E No ExAC
gnomAD
rs1949838687 101 G>R No TOPMed
rs1949838112 104 V>I No Ensembl
rs755059417 106 I>M No ExAC
gnomAD
rs1949836950 109 E>D No TOPMed
TCGA novel 110 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs766924557 112 G>C No ExAC
gnomAD
rs1173428205 114 I>V No TOPMed
rs1949835705 116 R>* No TOPMed
COSM1734426
rs750992981
116 R>Q pancreas [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1340413916 120 H>N No TOPMed
gnomAD
rs1949835141 120 H>Q No TOPMed
rs767747370 121 L>F No ExAC
TOPMed
gnomAD
rs767747370 121 L>V No ExAC
TOPMed
gnomAD
rs762274417 122 F>Y No ExAC
gnomAD
rs1649896543 123 K>E No TOPMed
TCGA novel 124 S>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs772743219 124 S>R No TOPMed
gnomAD
rs1949834077 126 E>G No TOPMed
rs773829948 126 E>K No ExAC
gnomAD
rs768314730 127 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs774980465 127 E>G No ExAC
TOPMed
gnomAD
rs774980465 127 E>V No ExAC
TOPMed
gnomAD
rs574944321 128 K>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs745772090 129 K>I No ExAC
rs781230981 129 K>N No ExAC
TOPMed
gnomAD
COSM1639119
COSM1361329
129 K>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs148456295 130 H>P No ESP
ExAC
TOPMed
gnomAD
rs148456295
COSM1705389
130 H>R skin [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
TCGA novel 130 H>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1428463661 131 I>L No TOPMed
gnomAD
rs746843180 131 I>T No ExAC
TOPMed
gnomAD
rs1428463661 131 I>V No TOPMed
gnomAD
TCGA novel 132 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM938954
COSM1651252
133 I>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs779218500 133 I>V No ExAC
TOPMed
gnomAD
COSM4864123
COSM938953
134 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1442945887 135 N>H No TOPMed
gnomAD
rs964671160 136 G>E No Ensembl
rs1209459274 138 P>R No Ensembl
rs113878846 139 A>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1249716902 140 P>L No gnomAD
COSM4811402
COSM1299338
140 P>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756263422 141 D>A No ExAC
gnomAD
rs750860679 142 F>I No ExAC
gnomAD
rs1275019194 144 V>A No gnomAD
rs1189046583 144 V>M No TOPMed
gnomAD
rs1380112604 146 A>T No gnomAD
rs1949828944 146 A>V No TOPMed
gnomAD
rs928789507 151 L>F No Ensembl
rs1482050446 151 L>H No gnomAD
rs1949713428 152 Y>C No TOPMed
rs1949713249 154 E>* No TOPMed
rs2139132518 158 D>A No 1000Genomes
COSM4869728
COSM938952
158 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
RCV000896847
rs181888536
160 F>L No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1158465554 161 D>V No gnomAD
rs1472980527 162 T>I No TOPMed
gnomAD
rs1472980527 162 T>N No TOPMed
gnomAD
rs745978127
COSM4863659
COSM938951
164 R>C Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs781488871 164 R>H No ExAC
TOPMed
gnomAD
rs781488871 164 R>L No ExAC
TOPMed
gnomAD
rs757781644 166 I>N No ExAC
TOPMed
gnomAD
rs757781644 166 I>T No ExAC
TOPMed
gnomAD
rs1949711468 168 A>T No Ensembl
rs752122331 169 K>R No ExAC
TOPMed
gnomAD
rs764421420 170 S>T No ExAC
gnomAD
rs761738616 171 K>E No Ensembl
rs1949710590 172 K>I No Ensembl
rs1949710247 172 K>N No Ensembl
rs369178971
COSM1676845
173 S>* large_intestine [Cosmic] No cosmic curated
ESP
gnomAD
COSM4498370
COSM4498371
173 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1949710074 173 S>P No TOPMed
rs758804095 174 N>I No ExAC
TOPMed
rs758804095 174 N>S No ExAC
TOPMed
rs1565998337 178 H>L No Ensembl
rs758912579 180 D>H No ExAC
gnomAD
rs758912579 180 D>N No ExAC
gnomAD
COSM4810790
COSM938950
180 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1741361
rs1949708537
182 T>A urinary_tract [Cosmic] No cosmic curated
Ensembl
rs776209935 182 T>I No ExAC
gnomAD
COSM3968182
rs776209935
COSM3968181
182 T>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
gnomAD
COSM6072388
COSM6072389
184 G>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs765869720 184 G>R No ExAC
rs1018223613 185 I>V No TOPMed
gnomAD
rs1949707447 187 T>I No TOPMed
rs760646186 188 V>G No ExAC
TOPMed
gnomAD
rs773328520 189 G>D No ExAC
gnomAD
rs1949706418 191 T>A No gnomAD
rs945939403 191 T>I No TOPMed
gnomAD
rs1949706052 192 T>P No Ensembl
rs775802404 193 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1439385947 198 E>* No TOPMed
rs1371062772 201 M>L No gnomAD
rs768395970 202 M>L No ExAC
TOPMed
gnomAD
rs149328427 203 Q>P No ESP
ExAC
TOPMed
gnomAD
rs746150457 204 C>F No TOPMed
gnomAD
rs746150457 204 C>Y No TOPMed
gnomAD
rs148027037 207 L>S No 1000Genomes
ESP
ExAC
gnomAD
rs771004518 209 A>D No ExAC
gnomAD
rs1949655132 211 S>C No Ensembl
rs1949655309 211 S>T No Ensembl
rs778195029 212 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1274485860 213 T>K No TOPMed
gnomAD
rs1949654807 213 T>P No Ensembl
rs1592366272 214 T>P No Ensembl
rs891941469 216 S>G No TOPMed
gnomAD
rs1949653684 218 Q>H No Ensembl
rs1949653327 221 V>G No Ensembl
rs1949653165 222 Q>K No Ensembl
COSM1645567
COSM459526
rs567275114
225 R>C cervix Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1949652600
COSM84147
225 R>H pancreas [Cosmic] No cosmic curated
gnomAD
rs753495640 227 H>Q No ExAC
TOPMed
gnomAD
rs1471828683 227 H>Y No TOPMed
TCGA novel 228 A>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM938949
rs779602428
COSM4867480
229 I>V Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 231 T>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1002148747 233 H>N No TOPMed
rs755633407 233 H>R No ExAC
gnomAD
rs1336253126 234 V>L No gnomAD
rs1949650648 235 C>Y No TOPMed
rs968752395 236 Q>H No TOPMed
rs767206825 238 R>T No ExAC
gnomAD
rs1398697802 239 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1949649363 240 C>R No gnomAD
COSM1322539 242 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1682477634 242 Q>P No TOPMed
rs935761437 243 I>M No gnomAD
rs1949648806 244 D>A No gnomAD
TCGA novel 245 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1468192418 246 D>E No gnomAD
rs1164491796 246 D>Y No gnomAD
rs772197323 247 N>S No ExAC
gnomAD
rs377116944 248 A>E No ExAC
TOPMed
gnomAD
rs1396157941 249 T>A No TOPMed
TCGA novel 250 D>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs769022716 252 K>R No ExAC
gnomAD
rs749632095
RCV001355730
253 I>T No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1949613554 254 I>T No Ensembl
rs1949612887 255 S>A No gnomAD
rs1949612542 258 A>G No Ensembl
rs1292335779 261 N>S No TOPMed
gnomAD
COSM4867251
COSM938948
262 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1949612006 264 E>K No TOPMed
gnomAD
rs745576659 265 T>N No ExAC
gnomAD
rs1949611433 267 T>A No Ensembl
rs1592362966 267 T>N No Ensembl
COSM3688180
COSM3688181
269 K>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1592362890 270 F>L No Ensembl
rs1330960891 271 H>R No gnomAD
COSM4858627
COSM693267
274 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1949609929 274 D>N No gnomAD
rs1272845957 276 A>T No gnomAD
rs138390624 278 S>T No ESP
ExAC
TOPMed
gnomAD
rs937811368 283 R>C No 1000Genomes
TOPMed
gnomAD
COSM1676843
rs758156089
283 R>H large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
TCGA novel 283 R>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1949608069 284 T>I No Ensembl
rs1949607102 289 E>G No Ensembl
rs1017951046
COSM938947
COSM4868510
289 E>K Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs370066971 290 R>K No ESP
rs1478587281 291 A>G No gnomAD
rs765082569
COSM1361327
COSM4786483
291 A>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1177175 293 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1592362425 294 G>A No Ensembl
rs750158577 294 G>C No ExAC
TOPMed
gnomAD
rs1177512217 295 I>V No gnomAD
rs1949605140
COSM41532
296 S>C lung [Cosmic] No cosmic curated
TOPMed
rs1179670901 297 I>V No TOPMed
rs1949604804 298 N>T No Ensembl
rs773472902 299 C>Y No ExAC
gnomAD
rs767553587 300 G>E No ExAC
gnomAD
COSM5643210
COSM5643209
300 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs764295598 303 A>P No ExAC
gnomAD
rs781240040 305 G>D No Ensembl
TCGA novel 309 S>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs972411719 309 S>R No TOPMed
gnomAD
rs1436855388 309 S>R No gnomAD
TCGA novel 312 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1949361146 312 G>R No Ensembl
rs1949360938 313 D>V No Ensembl
COSM693268
COSM4859377
315 S>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1351297429 318 A>P No TOPMed
gnomAD
rs1344951736 318 A>V No gnomAD
rs1361472826 320 H>R No gnomAD
rs1204385293 321 V>D No TOPMed
rs1429561167 322 P>A No gnomAD
rs770246874 322 P>L No ExAC
gnomAD
rs1490765240 323 Y>C No TOPMed
gnomAD
rs1490765240 323 Y>F No TOPMed
gnomAD
rs776365804 326 S>T No ExAC
gnomAD
rs1949357660 329 T>A No TOPMed
gnomAD
rs1024080688 329 T>I No Ensembl
rs1949357272 330 R>G No gnomAD
rs1833162130 332 L>P No TOPMed
gnomAD
TCGA novel 333 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1949356480 333 Q>R No TOPMed
TCGA novel 334 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs971322383 337 G>E No TOPMed
gnomAD
rs1183333668 337 G>R No TOPMed
gnomAD
rs1454729970 338 G>V No TOPMed
TCGA novel 338 G>V Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1275123439 339 N>S No gnomAD
rs1949355192 340 S>I No TOPMed
rs772956810 343 I>L No ExAC
TOPMed
gnomAD
rs771443337 343 I>T No ExAC
TOPMed
gnomAD
rs772956810 343 I>V No ExAC
TOPMed
gnomAD
rs1948954674 344 M>L No Ensembl
rs1244589483 345 I>M No TOPMed
rs1948954301 345 I>T No gnomAD
COSM187103
rs143166999
346 A>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1592319162 348 V>D No Ensembl
TCGA novel 353 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1948952455 356 M>I No TOPMed
rs768580958 356 M>V No ExAC
TOPMed
gnomAD
rs992012618
COSM938945
COSM2065198
358 T>M Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1948952236 358 T>S No TOPMed
COSM6072390
COSM6072391
359 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs779694955 361 T>S No ExAC
gnomAD
TCGA novel 363 K>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 363 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1948950282 365 A>S No TOPMed
rs1592318930 365 A>V No Ensembl
rs778081595 366 N>H No ExAC
TOPMed
gnomAD
rs758353486 366 N>S No ExAC
TOPMed
gnomAD
rs752828477 367 R>* No ExAC
TOPMed
gnomAD
rs765481237 367 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs760108872 368 A>T No ExAC
gnomAD
rs766620026 369 R>G No ExAC
gnomAD
rs1948948515 369 R>K No Ensembl
rs761132468 371 I>V No ExAC
gnomAD
rs767209233 372 K>R No ExAC
gnomAD
rs1948947899 373 N>S No TOPMed
gnomAD
rs761242353 375 V>L No ExAC
TOPMed
gnomAD
rs761242353 375 V>M No ExAC
TOPMed
gnomAD
rs1948947313 376 M>I No Ensembl
rs1186045282 376 M>T No gnomAD
rs968830367 377 V>A No gnomAD
rs1948947149 377 V>L No Ensembl
rs1021616179 378 N>S No gnomAD
rs1948946798 378 N>Y No gnomAD
rs773844977 380 D>N No ExAC
gnomAD
rs1302414390 381 R>K No gnomAD
rs1388678542 382 A>T No gnomAD
rs749195583 383 S>C No ExAC
TOPMed
gnomAD
rs749195583 383 S>G No ExAC
TOPMed
gnomAD
rs1948945443 383 S>I No Ensembl
rs1349887483 385 Q>E No TOPMed
gnomAD
rs369194542 385 Q>H No ESP
ExAC
TOPMed
gnomAD
rs769430367 386 I>M No ExAC
gnomAD
TCGA novel 386 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1019794380 387 N>D No TOPMed
RCV001773300
rs2138873313
389 L>I No ClinVar
Ensembl
dbSNP
COSM1676841
rs777791795
390 R>C central_nervous_system [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs758689865 390 R>H No ExAC
TOPMed
gnomAD
RCV002223435
rs777791795
390 R>S No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs748441314 391 S>R No ExAC
gnomAD
rs1199323292 392 E>K No gnomAD
COSM3811927
COSM3811926
394 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1287405376 395 R>* No Ensembl
rs779115969 395 R>Q No ExAC
TOPMed
gnomAD
rs267603450 396 L>F No ExAC
gnomAD
rs1442245860 396 L>R No gnomAD
rs267603450 396 L>V No ExAC
gnomAD
rs754258302 397 Q>H No ExAC
gnomAD
rs76957342 397 Q>P No Ensembl
rs1464916547 398 M>L No gnomAD
rs1308921763 398 M>R No TOPMed
gnomAD
rs1565945825 399 E>K No gnomAD
rs1948941362 401 M>L No TOPMed
gnomAD
rs376944751 401 M>T No ESP
ExAC
TOPMed
gnomAD
rs1948941362 401 M>V No TOPMed
gnomAD
rs1278629407 402 E>G No gnomAD
rs931089309 404 K>R No Ensembl
rs898209512 405 T>R No Ensembl
rs1229330768 406 G>S No gnomAD
rs1948857862 408 R>G No Ensembl
COSM4786877
COSM1322540
408 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs946615924 409 I>V No Ensembl
rs1948857484 410 I>V No Ensembl
rs1948857263 411 D>A No Ensembl
rs1244207399 412 E>G No gnomAD
rs750947190 412 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1948856710 413 E>D No TOPMed
rs78616703 414 G>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757651743 414 G>D No ExAC
gnomAD
rs1416576490 415 V>M No TOPMed
gnomAD
rs1948855733 416 E>D No TOPMed
gnomAD
rs771773477 416 E>G No TOPMed
gnomAD
rs1948855552 417 S>G No TOPMed
rs2138843354 418 I>M No Ensembl
rs879099697 418 I>V No Ensembl
rs751166979 419 N>S No ExAC
TOPMed
gnomAD
rs1948854860 420 D>V No gnomAD
rs1421287570 421 M>I No gnomAD
RCV000910155
rs551748818
421 M>V No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1160923543 422 F>L No gnomAD
rs1472208880 424 E>D No gnomAD
rs375541289 427 M>L No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel
rs1592312677
430 T>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
TCGA novel 431 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 434 N>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1471900499
COSM938944
COSM4870467
436 R>C Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs200436491 436 R>H No ExAC
TOPMed
gnomAD
rs764712550 439 I>V No ExAC
gnomAD
rs1948851642 441 A>V No Ensembl
rs1439743720 442 M>I No gnomAD
rs1948851469 442 M>T No TOPMed
rs368294102 443 Q>* No ESP
TOPMed
gnomAD
rs368294102 443 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
NCI-TCGA
TOPMed
gnomAD
rs144601000 444 E>A No ESP
ExAC
TOPMed
gnomAD
rs144601000 444 E>G No ESP
ExAC
TOPMed
gnomAD
rs2138841416 445 T>A No Ensembl
rs770807001 445 T>K No ExAC
TOPMed
gnomAD
rs770807001 445 T>M No ExAC
TOPMed
gnomAD
rs1948850057 447 D>G No Ensembl
rs769003611 448 A>V No ExAC
gnomAD
rs375768830 450 R>S No ESP
ExAC
TOPMed
gnomAD
rs771402953 454 T>A No Ensembl
rs769811096 454 T>I No ExAC
gnomAD
rs746352730 455 Q>R No ExAC
TOPMed
gnomAD
rs781683151 458 S>I No ExAC
gnomAD
rs781683151 458 S>N No ExAC
gnomAD
rs757563686 459 D>E No ExAC
TOPMed
gnomAD
rs1166484313 459 D>G No gnomAD
rs1183320157 461 A>V No gnomAD
rs1471332590 463 H>N No TOPMed
gnomAD
rs1471332590 463 H>Y No TOPMed
gnomAD
rs751929960 464 V>F No ExAC
TOPMed
gnomAD
rs751929960 464 V>I No ExAC
TOPMed
gnomAD
rs1948846699 465 L>I No gnomAD
rs778178203 466 A>D No ExAC
TOPMed
gnomAD
rs1948846517 466 A>T No Ensembl
COSM1511943
COSM6136709
COSM6136708
rs778178203
466 A>V lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758057629 467 R>G No ExAC
TOPMed
gnomAD
COSM5233394
COSM548310
467 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1333883973 469 G>D No TOPMed
gnomAD
rs1333883973 469 G>V No TOPMed
gnomAD
TCGA novel 471 G>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs778450822 471 G>E No ExAC
gnomAD
rs754452058 473 E>* No ExAC
gnomAD
rs1211798681 473 E>G No TOPMed
gnomAD
rs1211798681 473 E>V No TOPMed
gnomAD
TCGA novel
rs1948814189
474 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1486805804 476 S>G No gnomAD
rs1948813413 477 N>S No gnomAD
rs766053082 479 I>T No ExAC
gnomAD
rs750432034 480 H>D No ExAC
TOPMed
gnomAD
rs1948812656 481 S>G No TOPMed
TCGA novel 481 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs761541891 483 I>V No ExAC
gnomAD
COSM938943
COSM2065175
485 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs143300316
COSM108456
485 E>K skin [Cosmic] No cosmic curated
Ensembl
rs1948811700 485 E>V No TOPMed
rs916797963 486 I>V No TOPMed
gnomAD
COSM938942
rs1948811066
COSM4863679
487 E>K Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1948810735 488 D>A No TOPMed
gnomAD
rs1948810904 488 D>Y No Ensembl
rs2138827295 489 L>V No Ensembl
rs1179718800 491 A>T No TOPMed
gnomAD
TCGA novel 493 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs146440071 493 L>S No ESP
ExAC
TOPMed
gnomAD
TCGA novel 493 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1453403699 495 E>K No TOPMed
gnomAD
rs767618564 496 S>N No Ensembl
rs1948419475 497 E>A No Ensembl
rs773709604 498 A>T No ExAC
gnomAD
rs1948418833 499 V>G No TOPMed
gnomAD
rs772460803 500 N>Y No ExAC
gnomAD
COSM4467858
rs774562432
COSM4467857
504 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
TCGA novel 506 N>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1481871548 507 L>M No gnomAD
rs1948417443 508 T>A No TOPMed
gnomAD
rs1160277688 508 T>R No TOPMed
rs1948417225 510 A>G No Ensembl
rs1948416802 511 T>A No Ensembl
rs1452723005 512 A>G No TOPMed
gnomAD
rs779882169 512 A>S No ExAC
TOPMed
gnomAD
rs779882169 512 A>T No ExAC
TOPMed
gnomAD
rs755633872 513 R>G No ExAC
TOPMed
gnomAD
rs1385293596 513 R>K No gnomAD
rs745377020 514 A>V No ExAC
TOPMed
gnomAD
rs144047911 515 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs993302961 519 G>E No Ensembl
rs569736835 519 G>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1948413540 521 S>P No TOPMed
rs1592284814 522 T>S No Ensembl
rs1364104176 524 S>F No gnomAD
TCGA novel 524 S>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1948412946 524 S>T No Ensembl
rs1349715518 525 P>L No gnomAD
rs758223938 525 P>S No ExAC
TOPMed
gnomAD
rs1431095676 527 I>M No TOPMed
gnomAD
rs1948411879 527 I>V No Ensembl
rs960059923 529 S>P No Ensembl
rs1312032581 530 S>* No TOPMed
rs371442550 531 D>G No ESP
ExAC
TOPMed
gnomAD
rs1948410647 532 K>T No TOPMed
rs867354889 533 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs139129865 534 T>I No ESP
ExAC
TOPMed
gnomAD
TCGA novel 535 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs923122059 535 I>T No TOPMed
rs2138685600 536 E>K No Ensembl
rs1245668808 537 I>T No gnomAD
rs1204999624 538 I>K No gnomAD
TCGA novel 538 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs760678283 539 D>E No ExAC
TOPMed
gnomAD
rs1358721057 539 D>G No TOPMed
gnomAD
rs1352108446
COSM275737
539 D>N Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1231578129 540 L>I No gnomAD
rs1347396430 540 L>P No gnomAD
rs1347396430 540 L>Q No gnomAD
rs1363043598 541 A>E No gnomAD
rs1236806542 541 A>P No gnomAD
rs1236806542 541 A>T No gnomAD
COSM2065161
COSM2065162
544 D>I Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1381571381 544 D>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs964475807 544 D>V No TOPMed
gnomAD
COSM938941
COSM4863628
544 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs374696798 545 L>V No ESP
ExAC
gnomAD
rs1290382409 546 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
TCGA novel
rs1134961
548 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
COSM261662 550 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774962499 550 R>K No ExAC
gnomAD
rs968902446 551 K>E No Ensembl
rs769101427 552 E>K No ExAC
gnomAD
rs1173833175 553 K>N No TOPMed
gnomAD
rs1165249973 554 R>K No gnomAD
TCGA novel 555 K>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1179328833 557 K>R No TOPMed
gnomAD
COSM2065160
COSM1361325
558 R>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774683597 558 R>M No Ensembl
rs774683597 558 R>T No Ensembl
rs1443639940 560 Q>H No TOPMed
gnomAD
rs1947904409 561 K>Q No TOPMed
TCGA novel 562 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 563 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1947903943 564 E>K No TOPMed
rs1161243532 565 S>N No TOPMed
rs1024198839 567 R>* No TOPMed
gnomAD
rs1258642320 567 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1482181587 568 E>G No gnomAD
rs191150586 569 E>A No 1000Genomes
TOPMed
gnomAD
rs191150586 569 E>G No 1000Genomes
TOPMed
gnomAD
rs988674826 570 R>G No TOPMed
gnomAD
rs1254959041 571 S>N No gnomAD
rs1364807045 572 V>A No TOPMed
gnomAD
rs775986011 573 A>G No ExAC
gnomAD
rs770300950 576 E>G No ExAC
TOPMed
gnomAD
rs148688136 576 E>K No ESP
ExAC
TOPMed
gnomAD
rs148688136 576 E>Q No ESP
ExAC
TOPMed
gnomAD
rs746545050 577 D>G No ExAC
TOPMed
gnomAD
COSM4870400
COSM938940
577 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1947492141 578 N>S No Ensembl
rs1325359832 578 N>Y No TOPMed
rs777619166 582 D>E No ExAC
TOPMed
gnomAD
rs748137887 584 E>D No ExAC
gnomAD
rs771990557 584 E>G No ExAC
gnomAD
rs2138415603 585 K>E No Ensembl
rs778652648 585 K>N No ExAC
gnomAD
rs1033430812 586 K>E No TOPMed
rs1399474327 589 K>N No TOPMed
gnomAD
COSM325630
rs1407646031
590 G>C lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs754807741 590 G>D No ExAC
TOPMed
gnomAD
rs1407646031 590 G>S No TOPMed
gnomAD
rs1947489076 592 S>A No Ensembl
rs147231078 592 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM938939
COSM4875650
593 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1468936451 595 E>K No gnomAD
rs906206403 597 N>D No TOPMed
gnomAD
rs751656519 597 N>S No ExAC
TOPMed
gnomAD
rs1372629291 598 E>A No gnomAD
rs1592241041 599 L>I No Ensembl
TCGA novel 600 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1947486606 600 E>K No Ensembl
TCGA novel 601 V>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs373882115 601 V>A No ESP
ExAC
TOPMed
gnomAD
rs758952493 601 V>L No ExAC
TOPMed
gnomAD
rs1173632775 604 S>R No gnomAD
rs1216438949 607 V>L No gnomAD
rs1448482009 608 S>N No gnomAD
rs1277934816 609 D>G No TOPMed
gnomAD
rs1947450563 609 D>H No Ensembl
TCGA novel 610 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1463663866 610 H>R No TOPMed
rs1241747341 610 H>Y No TOPMed
rs139879235 612 D>N No ESP
ExAC
TOPMed
gnomAD
rs1009678629 613 E>A No gnomAD
rs748099862 615 E>Q No Ensembl
TCGA novel 617 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs747284637 619 E>K No ExAC
TOPMed
gnomAD
rs747284637 619 E>Q No ExAC
TOPMed
gnomAD
rs1453778990
RCV001356104
621 E>missing No ClinVar
dbSNP
RCV000968687
rs750450259
621 E>missing No ClinVar
dbSNP
rs1373965379 623 D>E No TOPMed
gnomAD
rs1947446887 623 D>G No gnomAD
rs777970404 624 I>T No ExAC
gnomAD
rs758583396 625 D>G No ExAC
gnomAD
rs1168393894 626 G>R No TOPMed
gnomAD
rs1427945712 626 G>V No gnomAD
COSM1322541 628 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1440893509 630 S>P No TOPMed
TCGA novel 632 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1273575247 632 E>K No TOPMed
gnomAD
rs2138399874 634 D>E No Ensembl
rs1353385135 634 D>G No TOPMed
gnomAD
TCGA novel 636 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2138399705 636 E>D No Ensembl
rs755232716 638 D>G No ExAC
gnomAD
rs1947442598 639 E>G No Ensembl
rs138836723 642 N>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1373202204 643 Y>F No TOPMed
TCGA novel 644 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1051668919 644 Q>E No Ensembl
rs1947399005 646 D>E No TOPMed
rs1337320262 646 D>G No gnomAD
rs2138386942 647 L>V No 1000Genomes
rs778929196 654 I>M No ExAC
TOPMed
gnomAD
rs755495082 655 A>T No ExAC
gnomAD
COSM5223882
COSM1476515
657 K>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 659 K>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs897649790 660 L>M No TOPMed
rs897649790 660 L>V No TOPMed
rs1947397615 661 I>V No Ensembl
rs2138386375 662 D>G No Ensembl
rs2138386300 663 E>Q No Ensembl
rs1374420922 666 N>K No gnomAD
rs75160352 666 N>T No Ensembl
COSM6136710
COSM6136711
668 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel
rs754348492
672 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
NCI-TCGA
rs1696445047 676 K>R No TOPMed
rs750028358 677 Q>H No ExAC
gnomAD
rs756499040 677 Q>L No ExAC
gnomAD
rs1369964741 678 Y>S No gnomAD
rs1156747011 679 E>V No gnomAD
COSM4863500
COSM938937
680 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs940074449 683 M>L No TOPMed
gnomAD
rs2138384465 683 M>T No Ensembl
rs1180150511 684 M>I No TOPMed
gnomAD
rs1408329611 684 M>K No gnomAD
rs1466720080 687 H>R No gnomAD
COSM1511945
COSM6136713
rs751062866
COSM6136712
690 R>L lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
ExAC
TOPMed
gnomAD
rs751062866 690 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs761244403 690 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs201835314 691 D>N No Ensembl
rs1947391125 693 Q>* No Ensembl
rs1489790674 693 Q>H No gnomAD
rs1947390628 694 L>I No Ensembl
rs1394566563 697 D>A No TOPMed
gnomAD
rs558091834 697 D>H No 1000Genomes
ExAC
gnomAD
rs558091834 697 D>Y No 1000Genomes
ExAC
gnomAD
rs762918844 698 Q>L No ExAC
TOPMed
gnomAD
rs762918844
RCV000915150
698 Q>R No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs192560751 699 V>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs1309369202 700 L>F No gnomAD
rs1947389109 701 Q>R No TOPMed
rs1232370864 704 G>S No gnomAD
COSM4776543
rs753650390
COSM305993
705 S>L Variant assessed as Somatic; MODERATE impact. endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1381584879 706 V>I No TOPMed
gnomAD
rs1947339962 707 E>K No Ensembl
COSM3460395
COSM3460396
708 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs560037174 709 Y>H No 1000Genomes
ExAC
gnomAD
TCGA novel 712 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1299873101 712 E>K No gnomAD
rs1947339333 713 K>E No gnomAD
rs1374518123 714 A>E No gnomAD
TCGA novel 714 A>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1432481022 714 A>T No gnomAD
rs1173694250 715 K>T No TOPMed
gnomAD
rs756413250 716 K>N No ExAC
TOPMed
gnomAD
rs1467092894 716 K>Q No gnomAD
COSM1361324
rs1193021160
COSM4747037
717 V>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TCGA novel 717 V>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs750788580 718 R>G No ExAC
gnomAD
rs781602588 718 R>M No ExAC
TOPMed
gnomAD
TCGA novel 720 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1029964383 721 Y>C No TOPMed
gnomAD
rs756882881 722 E>G No ExAC
gnomAD
rs1592233191 722 E>K No Ensembl
rs751212958 724 K>N No ExAC
gnomAD
rs1592233123 725 L>P No Ensembl
COSM5923968
COSM5923967
726 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs80326094 726 Q>K No Ensembl
rs1947335931 726 Q>R No Ensembl
rs1281244118 727 A>G No gnomAD
rs1281244118 727 A>V No gnomAD
rs1202432059 728 M>I No gnomAD
rs1592233019 728 M>R No TOPMed
rs1592233019 728 M>T No TOPMed
COSM1322542 734 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM71339 735 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763620963 735 L>I No ExAC
gnomAD
rs1947333914 736 Q>H No TOPMed
rs1226589623 736 Q>K No gnomAD
TCGA novel 739 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1947333444 740 K>Q No Ensembl
TCGA novel 740 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs752626804 742 H>D No ExAC
TOPMed
gnomAD
COSM693273
COSM4862114
742 H>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs752626804 742 H>Y No ExAC
TOPMed
gnomAD
rs1486943329 743 A>T No TOPMed
gnomAD
rs961965933 743 A>V No Ensembl
rs759615987 744 R>K No ExAC
TOPMed
gnomAD
rs759615987 744 R>T No ExAC
TOPMed
gnomAD
rs770896441 747 K>Q No ExAC
TOPMed
gnomAD
COSM1361322
COSM5096817
748 N>I Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2138364197 748 N>S No 1000Genomes
rs1393671045 749 Q>* No TOPMed
gnomAD
rs1393671045 749 Q>K No TOPMed
gnomAD
rs1014776876 751 Q>H No gnomAD
rs774463961 752 Y>* No ExAC
gnomAD
rs528921927 752 Y>C No ExAC
gnomAD
rs528921927 752 Y>F No ExAC
gnomAD
rs112367509 754 K>R No Ensembl
rs370078871 755 Q>L No ESP
TOPMed
gnomAD
rs775997715 757 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1196503556
COSM4785921
COSM1361321
762 D>G Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1362390539 762 D>Y No TOPMed
rs1354367889 763 V>G No gnomAD
rs1433614706 764 M>I No Ensembl
rs1318486272 765 E>K No gnomAD
rs1259861197 766 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1009420903 769 T>I No TOPMed
gnomAD
TCGA novel 769 T>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM4449441
rs1219032396
COSM4449440
769 T>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs1947054603 771 V>A No TOPMed
rs1440816430 771 V>I No gnomAD
COSM1676838
rs778271459
COSM938936
772 R>C Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs530439474 772 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs1947053701 773 L>R No Ensembl
COSM4812317
COSM1299337
777 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs747887370 778 K>R No ExAC
gnomAD
COSM4845130
COSM4845129
rs778531745
780 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs754563722 781 Q>E No ExAC
TOPMed
gnomAD
rs754563722 781 Q>K No ExAC
TOPMed
gnomAD
rs1947052317 782 E>G No TOPMed
rs766429919 783 K>E No ExAC
gnomAD
rs1247162394 784 A>D No TOPMed
gnomAD
rs1247162394 784 A>G No TOPMed
gnomAD
rs1453700596 784 A>S No gnomAD
rs1947050886 785 R>S No TOPMed
rs755870837 786 L>P No ExAC
gnomAD
rs1947050210 787 T>A No gnomAD
rs899183697 788 E>A No gnomAD
rs1251317083 789 S>C No gnomAD
rs750179951 792 N>S No ExAC
TOPMed
gnomAD
rs1947049086 793 R>G No gnomAD
rs373936264 796 A>T No ESP
ExAC
COSM1299336
COSM4810865
797 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1355495662 799 K>R No gnomAD
rs763062854 800 K>N No ExAC
gnomAD
COSM468306
COSM4857394
800 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 800 K>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1232994660 801 D>N No gnomAD
rs202062095 801 D>V No ExAC
gnomAD
rs371582303 803 R>C No ESP
ExAC
TOPMed
gnomAD
rs1326193641 803 R>H No gnomAD
rs371582303 803 R>S No ESP
ExAC
TOPMed
gnomAD
rs771426838 804 K>E No ExAC
gnomAD
rs761306396 804 K>R No ExAC
gnomAD
rs776751685 805 R>K No Ensembl
rs2138155038 807 H>D No Ensembl
rs778008456 807 H>R No ExAC
TOPMed
gnomAD
rs749005274 809 L>F No ExAC
TOPMed
gnomAD
rs1946661491 810 R>G No Ensembl
rs1946661254 810 R>K No TOPMed
rs1946660385 813 E>K No TOPMed
rs769384831 814 A>T No ExAC
gnomAD
rs887820875 815 Q>P No TOPMed
COSM4931238
COSM4931237
817 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1416156635 819 Q>E No TOPMed
gnomAD
rs1416156635 819 Q>K No TOPMed
gnomAD
COSM1676836
COSM1676837
820 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs745745130 821 V>A No ExAC
rs1285146797 822 V>I No TOPMed
gnomAD
TCGA novel 823 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs781202644 824 R>C No ExAC
TOPMed
gnomAD
rs781202644 824 R>G No ExAC
TOPMed
gnomAD
COSM4041549
rs558002876
COSM4041550
824 R>H ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751352937 825 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs751352937 825 R>G No ExAC
TOPMed
gnomAD
COSM1212403
rs777605261
825 R>H large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs777605261 825 R>L No ExAC
TOPMed
gnomAD
rs751352937 825 R>S No ExAC
TOPMed
gnomAD
COSM3671060
COSM3671061
826 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1272634893 829 E>V No TOPMed
rs1185704719 831 T>A No TOPMed
rs1946648663 832 A>T No TOPMed
rs1565819019 832 A>V No Ensembl
rs979633626 833 L>F No TOPMed
gnomAD
COSM693274
COSM4860732
rs979633626
833 L>V lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs762662150
COSM2065130
COSM2065129
834 R>C Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM415877
rs775230732
834 R>H urinary_tract [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1351407142
COSM5840900
COSM5840899
835 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
TCGA novel 836 Q>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1946647257 837 V>I No TOPMed
rs866560111 838 R>G No gnomAD
RCV000994895
rs1592198426
839 P>L No ClinVar
Ensembl
dbSNP
rs377418348 840 M>T No ESP
ExAC
TOPMed
gnomAD
rs1946646571 840 M>V No TOPMed
rs745390589 842 D>N No ExAC
TOPMed
gnomAD
rs377100439 844 V>G No Ensembl
rs770845892 845 A>G No ExAC
TOPMed
gnomAD
rs776073550 845 A>S No ExAC
gnomAD
rs2138148644 846 G>W No Ensembl
rs78917178 847 K>E No ExAC
gnomAD
rs756078781 848 V>G No ExAC
rs780333123 848 V>L No ExAC
TOPMed
gnomAD
rs1370378496 850 R>Q No TOPMed
gnomAD
rs952754000 850 R>W No gnomAD
rs1300421030 852 L>V No gnomAD
rs750509204 853 S>N No ExAC
TOPMed
gnomAD
TCGA novel 855 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs767549345 855 S>F No ExAC
gnomAD
rs757815392 856 D>Y No ExAC
TOPMed
gnomAD
rs764511984 857 A>E No ExAC
gnomAD
TCGA novel 857 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs774938793 858 P>L No ExAC
TOPMed
rs369381971 858 P>S No ESP
ExAC
TOPMed
gnomAD
rs369381971 858 P>T No ESP
ExAC
TOPMed
gnomAD
rs1200130993 862 T>A No gnomAD
TCGA novel 864 S>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 864 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1260086082 866 A>V No TOPMed
gnomAD
rs373609055 870 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM4859702
rs746913383
COSM693275
873 A>S lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 874 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1209001466 875 R>G No gnomAD
rs369621463 876 T>I No ESP
ExAC
TOPMed
gnomAD
TCGA novel 877 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1313920515 878 A>V No gnomAD
rs747977668 879 Q>L No ExAC
TOPMed
gnomAD
rs747977668 879 Q>R No ExAC
TOPMed
gnomAD
rs1946636515 882 M>I No Ensembl
rs146428467 882 M>V No ESP
ExAC
gnomAD
rs1299585064 883 R>G No gnomAD
rs1401809989 883 R>I No TOPMed
gnomAD
rs1401809989 883 R>T No TOPMed
gnomAD
rs2138145260 884 I>M No Ensembl
rs781301465 888 R>K No ExAC
gnomAD
rs781301465 888 R>T No ExAC
gnomAD
rs757443106 889 V>I No ExAC
TOPMed
gnomAD
COSM3986888
COSM3986889
890 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs201913108 892 L>F No ESP
ExAC
TOPMed
gnomAD
rs1443528519 892 L>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1946634018 894 T>A No gnomAD
rs145533806
RCV000970245
894 T>M No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs149718388 895 P>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs377107935 896 A>S No ESP
ExAC
gnomAD
rs1946632527 897 T>K No Ensembl
rs1223175612 898 N>D No TOPMed
gnomAD
rs1592197166 898 N>T No Ensembl
rs1946631660 900 N>D No TOPMed
gnomAD
rs753468576 900 N>K No ExAC
gnomAD
COSM3460393
COSM3460394
901 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs755324647 902 K>Q No ExAC
TOPMed
gnomAD
TCGA novel 903 K>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1246547717 904 Y>* No TOPMed
gnomAD
rs753476990 904 Y>C No ExAC
TOPMed
gnomAD
rs1355412839 904 Y>H No gnomAD
rs982903798 907 K>E No TOPMed
gnomAD
rs1307979882 908 G>E No TOPMed
gnomAD
rs1307979882 908 G>V No TOPMed
gnomAD
rs2138138634 910 T>N No Ensembl
rs749918204
COSM1676834
912 R>* haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs145303928 912 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774185664 913 V>E No ExAC
gnomAD
rs761776528 913 V>M No ExAC
TOPMed
gnomAD
rs1006504172 915 I>M No TOPMed
rs768448384 916 S>A No ExAC
TOPMed
gnomAD
rs1179385674 916 S>C No gnomAD
COSM3460392
COSM3460391
916 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs768448384 916 S>T No ExAC
TOPMed
gnomAD
rs1196712876 919 A>V No gnomAD
rs201804365 920 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747284586
COSM4041547
COSM4041548
920 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747284586 920 R>L No ExAC
TOPMed
gnomAD
rs747284586 920 R>P No ExAC
TOPMed
gnomAD
rs1351141435 922 K>N No gnomAD
rs1211233492 922 K>T No TOPMed
gnomAD
rs777972416 924 Q>H No ExAC
gnomAD
rs1284671239 924 Q>R No gnomAD
COSM4041546
COSM4041545
925 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772077335 925 L>V No ExAC
TOPMed
gnomAD
rs779305683 926 L>F No ExAC
TOPMed
rs779305683 926 L>I No ExAC
TOPMed
rs755299026 927 E>* No ExAC
rs755738527 928 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs755738527 928 R>L No ExAC
TOPMed
gnomAD
rs750114694 929 R>T No ExAC
gnomAD
rs1592195686 930 V>G No Ensembl
rs767011275 931 T>A No ExAC
TOPMed
gnomAD
rs1946610581 932 D>N No Ensembl
rs751455734 934 I>V No ExAC
gnomAD
rs763933896 935 M>V No ExAC
TOPMed
gnomAD
rs1421552176 937 K>N No gnomAD
rs1946608931 942 N>S No TOPMed
gnomAD
rs1409522933 943 M>T No TOPMed
gnomAD
rs372545573 943 M>V No ESP
TOPMed
gnomAD
rs1056598799 945 A>S No TOPMed
gnomAD
TCGA novel 945 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 951 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs376149427 952 K>E No ESP
ExAC
TOPMed
gnomAD
rs745424578 952 K>M No gnomAD
rs773506249 953 Q>K No ExAC
gnomAD
rs762149881 955 E>D No ExAC
TOPMed
gnomAD
rs905295295 955 E>G No TOPMed
rs1279279983 956 E>* No gnomAD
rs1220693174 958 T>I No TOPMed
gnomAD
rs1220693174 958 T>K No TOPMed
gnomAD
rs774269490 960 R>G No ExAC
TOPMed
gnomAD
COSM3398689
COSM3398690
rs2138124848
960 R>I Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
COSM3416808
rs142292357
COSM170145
961 R>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs142292357 961 R>G No ESP
ExAC
TOPMed
gnomAD
rs199795220 961 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3416807
COSM3416806
962 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs370441394 963 K>R No ESP
ExAC
TOPMed
gnomAD
COSM938935
COSM4868648
964 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770085648 964 L>V No ExAC
gnomAD
rs1946577890 966 K>E No TOPMed
rs61733370 967 R>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000968252
rs61733370
967 R>K No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs61733370 967 R>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1397034944 969 E>A No TOPMed
gnomAD
rs1439133785 969 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs144311378 971 I>L No ESP
ExAC
TOPMed
gnomAD
rs746716611 971 I>T No ExAC
gnomAD
rs144311378 971 I>V No ESP
ExAC
TOPMed
gnomAD
rs1180924393 972 V>I No gnomAD
rs777109447 973 K>R No ExAC
TOPMed
gnomAD
rs1946575414 974 E>A No TOPMed
rs1244501187 974 E>D No gnomAD
rs2138122956 975 N>S No Ensembl
rs1308444424 976 G>E No TOPMed
gnomAD
rs1001479403 976 G>R No TOPMed
gnomAD
COSM257236 978 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs752627686 984 N>D No ExAC
gnomAD
TCGA novel 985 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs149602555 985 I>V No ESP
ExAC
TOPMed
gnomAD
rs968203446 986 N>S No TOPMed
gnomAD
rs1946573186 988 E>A No TOPMed
TCGA novel 989 M>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1312231703 989 M>T No gnomAD
COSM6136714
COSM6136715
990 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 990 E>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1381400352 993 T>S No gnomAD
rs1946571907 994 A>P No Ensembl
rs377047702 996 I>T No ESP
ExAC
gnomAD
rs1331968401 997 D>G No gnomAD
rs61733764 997 D>H No gnomAD
rs61733764 997 D>N No gnomAD
rs761907530 999 I>V No ExAC
TOPMed
gnomAD
rs369034538 1002 S>G No ESP
TOPMed
gnomAD
TCGA novel 1006 C>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1946569843 1008 A>D No gnomAD
rs751774889 1009 N>S No Ensembl
rs751836346 1010 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
rs764110171 1013 M>T No ExAC
gnomAD
rs371835130 1014 E>D No Ensembl
rs1946568163 1015 E>K No TOPMed
gnomAD
rs1245940570 1016 A>T No TOPMed
rs1305521189 1019 E>G No gnomAD
rs1192194635 1019 E>K No gnomAD
TCGA novel 1020 G>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1490945887 1020 G>D No TOPMed
gnomAD
rs145207490 1021 E>K No 1000Genomes
rs755957986 1022 T>A No ExAC
TOPMed
gnomAD
rs146384175 1023 L>S No ESP
TOPMed
rs113796726 1024 D>E No gnomAD
rs1946527284 1025 V>A No TOPMed
rs751673366 1028 V>D No ExAC
gnomAD
rs1241096457 1029 I>L No TOPMed
gnomAD
rs1241096457 1029 I>V No TOPMed
gnomAD
rs1946525951 1031 A>V No TOPMed
rs1946525677 1032 C>R No TOPMed
rs763228459 1033 T>I No ExAC
TOPMed
gnomAD
TCGA novel 1034 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1946525030 1034 L>V No Ensembl
rs1946524402 1035 T>K No Ensembl
rs892495726 1035 T>P No TOPMed
rs1295910635 1037 A>S No gnomAD
rs1360570327 1038 R>* No TOPMed
gnomAD
rs1946523260 1038 R>Q No TOPMed
gnomAD
rs1946523030 1039 Y>H No Ensembl
rs771841179 1043 H>Y No ExAC
gnomAD
rs1193181698 1047 M>L No TOPMed
gnomAD
rs1946520573 1048 G>D No gnomAD
rs1488780871 1048 G>R No gnomAD
rs1263931298 1049 I>V No gnomAD
rs1311773456 1052 G>D No TOPMed
gnomAD
rs761139342 1054 Q>H No ExAC
TOPMed
gnomAD
rs773694301 1055 A>D No ExAC
gnomAD
rs773694301 1055 A>G No ExAC
gnomAD
rs773694301 1055 A>V No ExAC
gnomAD
rs1230534151
COSM312336
1056 A>S lung [Cosmic] No cosmic curated
TOPMed
gnomAD
rs2138080683 1057 Q>L No Ensembl
rs761520066 1059 E>D No ExAC
TOPMed
gnomAD
rs1197714585 1059 E>K No gnomAD
rs1027109820 1061 Q>* No Ensembl
rs1339343134 1064 V>G No gnomAD
rs767995169 1065 L>Q No ExAC
COSM1705381
rs915555359
1066 E>K skin [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1239402355 1067 G>V No TOPMed
gnomAD
rs748836406 1068 R>* No ExAC
gnomAD
rs1375258659 1068 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1946446441 1070 K>R No TOPMed
TCGA novel 1071 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs774930561 1072 T>A No ExAC
gnomAD
TCGA novel 1073 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs769757650 1073 E>K No ExAC
gnomAD
rs745833102 1075 T>I No ExAC
TOPMed
gnomAD
rs1946445134 1078 T>N No TOPMed
rs780924477 1079 Q>P No ExAC
gnomAD
rs780924477 1079 Q>R No ExAC
gnomAD
rs1457631420 1080 N>K No gnomAD
rs1369122644 1081 Q>L No gnomAD
rs1437917259 1082 L>I No gnomAD
rs748309541 1083 L>S No ExAC
gnomAD
rs992474024 1084 F>L No TOPMed
rs779110274 1084 F>L No ExAC
gnomAD
rs1252460684 1084 F>S No gnomAD
rs1592185504 1085 H>R No Ensembl
rs1946442450 1085 H>Y No TOPMed
rs1946442071 1086 M>L No TOPMed
gnomAD
rs960013288 1086 M>T No Ensembl
rs1946441676 1089 E>D No TOPMed
rs1946441471 1090 K>E No Ensembl
rs1946441247 1091 A>T No Ensembl
rs1946441045 1091 A>V No TOPMed
rs1451807193 1094 N>S No TOPMed
TCGA novel 1095 P>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs755218415 1097 L>P No ExAC
TOPMed
gnomAD
rs753936272 1099 A>T No ExAC
gnomAD
rs377193734 1101 L>I No ESP
ExAC
TOPMed
gnomAD
rs1408837029 1101 L>P No TOPMed
rs1408837029 1101 L>Q No TOPMed
rs377193734 1101 L>V No ESP
ExAC
TOPMed
gnomAD
COSM938934
COSM1651254
1102 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1946438829 1102 G>D No gnomAD
rs1423846263 1102 G>S No TOPMed
gnomAD
rs1360492822 1104 A>D No TOPMed
gnomAD
COSM3416804
COSM3416803
1105 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1946438233 1106 Q>R No TOPMed
rs367901380 1109 D>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1294831190 1109 D>G No TOPMed
gnomAD
rs1946396957 1109 D>N No TOPMed
rs1946396232 1110 S>N No TOPMed
TCGA novel
rs139033996
1110 S>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
ESP
ExAC
TOPMed
gnomAD
rs563027265 1111 V>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs1167441024 1112 P>L No TOPMed
gnomAD
rs1167441024 1112 P>Q No TOPMed
gnomAD
rs781481134 1116 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs778149010 1117 E>D No ExAC
TOPMed
gnomAD
rs140140022
RCV000912546
1117 E>Q No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs758701315 1119 S>N No ExAC
gnomAD
rs2137914302 1121 D>H No Ensembl
rs201693220 1122 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs764790302 1123 D>N No ExAC
gnomAD
rs1945902688 1123 D>V No TOPMed
rs796231505 1124 A>T No TOPMed
rs187723045 1125 P>S No 1000Genomes
TOPMed
gnomAD
rs187723045 1125 P>T No 1000Genomes
TOPMed
gnomAD
rs887878200 1127 N>S No TOPMed
gnomAD
rs1945900859 1129 P>L No Ensembl
rs1945900594 1132 E>D No gnomAD
TCGA novel 1133 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs965774800 1135 T>M No TOPMed
gnomAD
rs753516869 1139 D>H No ExAC
gnomAD
rs765831109 1140 L>I No ExAC
TOPMed
gnomAD
rs1945847349 1141 M>L No TOPMed
rs952973809 1147 V>A No Ensembl
rs750311917 1147 V>M No ExAC
TOPMed
gnomAD
rs761870399 1149 P>R No ExAC
TOPMed
gnomAD
rs1592156733 1150 K>T No TOPMed
rs372579199 1151 N>K No ESP
ExAC
TOPMed
gnomAD
COSM3688179
COSM3688178
1152 K>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1179262275 1152 K>R No gnomAD
rs757111473 1153 A>V No ExAC
gnomAD
rs1486236477 1154 R>* No TOPMed
gnomAD
rs986963607
COSM175284
1154 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1945431009 1155 R>G No gnomAD
TCGA novel 1156 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs74778449 1156 R>K No Ensembl
rs1592139967 1157 T>P No Ensembl
rs763923109 1159 T>S No ExAC
TOPMed
gnomAD
rs762845087 1161 M>V No ExAC
gnomAD
rs1346942612 1165 Y>C No TOPMed
gnomAD
rs761003662 1165 Y>H No ExAC
TOPMed
rs1346942612 1165 Y>S No TOPMed
gnomAD
rs1275921808 1167 D>G No gnomAD
rs1381122416 1169 S>I No gnomAD
rs1945427121 1169 S>R No TOPMed
rs1227919873 1171 L>P No TOPMed
rs1945426888 1171 L>V No TOPMed
rs772220692 1172 A>P No ExAC
TOPMed
gnomAD
rs772220692 1172 A>T No ExAC
TOPMed
gnomAD
rs762173645 1177 T>A No ExAC
gnomAD
rs774856036 1177 T>I No ExAC
TOPMed
gnomAD
rs554469530 1179 D>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs760073207 1179 D>N No ExAC
TOPMed
gnomAD
rs575286430 1180 A>G No 1000Genomes
ExAC
gnomAD
rs202078745 1180 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1180 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs143083005 1181 S>C No ESP
TOPMed
gnomAD
rs143083005 1181 S>F No ESP
TOPMed
gnomAD
TCGA novel 1181 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs962843455 1182 L>F No TOPMed
gnomAD
rs1188204192 1183 P>L No gnomAD
COSM4041543
COSM4041544
1184 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1238651079 1186 L>F No TOPMed
gnomAD
COSM6072398
COSM6072399
1187 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1945420673 1188 P>L No TOPMed
rs954946455 1188 P>S No TOPMed
rs954946455 1188 P>T No TOPMed
rs1262449822 1189 V>I No TOPMed
gnomAD
rs1262449822 1189 V>L No TOPMed
gnomAD
rs1945419876 1190 A>G No Ensembl
rs1203990826 1190 A>T No gnomAD
rs1945419614 1192 G>R No Ensembl
rs1945419112 1193 Q>* No TOPMed
gnomAD
COSM4833152
COSM4833151
1194 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1390414058 1194 E>V No TOPMed
COSM4832278
COSM4832279
1195 I>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1945418877 1195 I>V No TOPMed
rs1945418640 1199 T>P No TOPMed
rs1451001972 1200 E>G No TOPMed
rs1945417891 1201 T>A No Ensembl
rs1249207861 1202 S>I No TOPMed
gnomAD
rs1026567466 1203 G>D No Ensembl
TCGA novel 1203 G>V Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1203 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1015969607 1204 T>I No TOPMed
gnomAD
rs756814252 1204 T>P No ExAC
TOPMed
gnomAD
rs756814252 1204 T>S No ExAC
TOPMed
gnomAD
rs1394783161 1205 S>T No TOPMed
gnomAD
rs1945415757 1208 E>G No Ensembl
rs557018562 1209 K>E No 1000Genomes
TOPMed
gnomAD
TCGA novel 1209 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs758466226 1210 E>K No ExAC
TOPMed
gnomAD
rs1945414686 1211 L>F No TOPMed
rs1945414445 1212 S>F No TOPMed
rs866768006 1213 P>L No TOPMed
rs1945413905 1213 P>S No TOPMed
rs149075970 1214 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149075970 1214 P>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1945412683 1216 G>D No TOPMed
gnomAD
rs571247823 1218 P>T No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1219 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs147620197
COSM3398687
1220 K>E central_nervous_system [Cosmic] No cosmic curated
ESP
TOPMed
gnomAD
rs552970913 1220 K>R No 1000Genomes
TOPMed
gnomAD
COSM1476513
COSM4813862
1221 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1222 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1592138934 1222 G>S No Ensembl
rs1945411222 1222 G>V No Ensembl
rs1945411013 1223 S>R No Ensembl
rs2137771966 1224 I>S No Ensembl
rs1945030197 1225 S>C No Ensembl
rs1945029662 1227 Q>K No Ensembl
rs1438184694 1227 Q>R No gnomAD
rs2137660591 1230 L>P No Ensembl
rs780767170 1230 L>V No Ensembl
rs1252175888 1231 S>L No gnomAD
rs1219822918 1233 K>E No gnomAD
rs750548981 1234 K>E No ExAC
TOPMed
gnomAD
rs750548981 1234 K>Q No ExAC
TOPMed
gnomAD
rs1291959900 1234 K>T No gnomAD
COSM1361319
COSM5091775
rs761074592
1235 I>F Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs767779686 1235 I>M No ExAC
gnomAD
rs145259176 1236 P>A No ESP
ExAC
TOPMed
gnomAD
rs746483961 1237 E>Q No Ensembl
rs1334390547 1239 S>A No TOPMed
rs927536292 1239 S>F No TOPMed
gnomAD
TCGA novel 1239 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs147861618 1240 P>L No ESP
gnomAD
rs763411761 1240 P>S No ExAC
TOPMed
gnomAD
rs980738403 1241 V>L No TOPMed
rs776087480 1242 T>A No ExAC
TOPMed
gnomAD
rs1399041505 1242 T>I No gnomAD
rs776087480 1242 T>P No ExAC
TOPMed
gnomAD
rs776087480 1242 T>S No ExAC
TOPMed
gnomAD
rs569992788 1245 K>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs759940671 1245 K>R No ExAC
TOPMed
gnomAD
rs375504040 1246 A>P No ESP
TOPMed
gnomAD
rs375504040 1246 A>T No ESP
TOPMed
gnomAD
rs1592122713 1246 A>V No Ensembl
rs202059694 1248 E>K No ExAC
TOPMed
gnomAD
rs202059694 1248 E>Q No ExAC
TOPMed
gnomAD
rs746695893 1249 K>I No ExAC
TOPMed
gnomAD
rs1479940083 1252 K>I No gnomAD
rs1269171184 1254 K>R No TOPMed
gnomAD
rs772806269 1257 E>K No ExAC
TOPMed
gnomAD
rs1432997726 1261 S>A No gnomAD
rs1367190751 1262 D>G No gnomAD
rs2137588687 1262 D>N No Ensembl
rs1334651917 1263 S>P No TOPMed
gnomAD
rs1944784548 1264 G>E No gnomAD
rs1944784548 1264 G>V No gnomAD
rs201205072 1265 T>A No TOPMed
rs1592111055 1266 S>L No Ensembl
rs1944782965 1268 A>G No Ensembl
rs1177753954 1268 A>S No TOPMed
gnomAD
rs773795201 1269 S>N No ExAC
gnomAD
rs1592110965 1271 S>L No Ensembl
rs768618302 1272 P>R No ExAC
gnomAD
rs1944781508 1273 P>S No TOPMed
COSM116656 1274 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1183539058 1275 S>P No gnomAD
rs1756239087 1276 P>S No TOPMed
rs139695269
COSM1476512
1279 R>Q breast [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1384710859 1280 P>H No gnomAD
rs1384710859 1280 P>R No gnomAD
COSM4948628
COSM1361318
rs769601725
1281 R>C Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752800426 1282 N>S No ExAC
gnomAD
rs1245207332 1284 L>P No TOPMed
gnomAD
rs1245207332 1284 L>R No TOPMed
gnomAD
rs150630573
RCV000902855
1285 N>T No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1944775541 1286 V>G No TOPMed
gnomAD
TCGA novel 1287 F>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs755468804 1289 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs887165821
COSM4545797
COSM4545798
1289 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs755468804 1289 R>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1944774159 1290 L>F No Ensembl
rs1944773853 1290 L>P No TOPMed
TCGA novel 1291 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs886049342 1291 T>I No gnomAD
rs766790592 1292 V>F No ExAC
TOPMed
gnomAD
rs371178638 1294 Q>P No ESP
ExAC
TOPMed
gnomAD
rs371178638 1294 Q>R No ESP
ExAC
TOPMed
gnomAD
rs1565724787 1295 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs767268089 1297 T>A No ExAC
gnomAD
COSM3811921
COSM415878
1298 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1944769629 1299 V>I No TOPMed
gnomAD
rs768249226 1300 Q>H No ExAC
gnomAD
rs1944768695 1301 Q>K No TOPMed
gnomAD
rs1944768441 1303 K>E No TOPMed
rs1276329048 1303 K>M No TOPMed
rs11171717 1304 S>C No ExAC
gnomAD
rs11171717 1304 S>Y No ExAC
gnomAD
rs763602499 1305 D>V No ExAC
TOPMed
gnomAD
rs1012793782 1306 E>G No Ensembl
rs2137515461 1307 S>N No Ensembl
rs201618273 1310 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
rs2137515299 1310 S>P No Ensembl
rs1944493117 1311 L>V No Ensembl
rs769695817 1312 S>L No ExAC
TOPMed
gnomAD
rs531164985 1313 E>D No ExAC
TOPMed
gnomAD
COSM3986886
COSM3986887
1315 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM2065060
rs781410152
1317 S>F Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1485764024
COSM3460390
1318 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs1459792944 1318 S>P No TOPMed
gnomAD
rs1459792944 1318 S>T No TOPMed
gnomAD
rs142879430 1320 R>T No ESP
ExAC
TOPMed
gnomAD
rs1460980013 1321 G>V No TOPMed
rs1944033331 1323 I>M No Ensembl
RCV003237995
rs2137384157
1323 I>T No ClinVar
Ensembl
dbSNP
rs1944033582 1323 I>V No TOPMed
gnomAD
rs1444013812 1324 N>S No gnomAD
rs1410743282 1325 P>A No gnomAD
rs1944032519 1325 P>L No TOPMed
rs1944032279 1326 F>Y No TOPMed
rs1375008050 1328 A>T No TOPMed
gnomAD
rs778528102 1329 S>P No ExAC
TOPMed
gnomAD
rs762576003 1330 K>E No TOPMed
gnomAD
rs1424107928 1332 I>M No gnomAD
rs1944030545 1333 R>K No TOPMed
rs753262148 1333 R>S No ExAC
TOPMed
gnomAD
rs1565688929 1334 A>V No Ensembl
rs931031780 1337 L>F No gnomAD
rs931031780
RCV001758147
1337 L>I No ClinVar
dbSNP
gnomAD
rs1180639291 1338 Q>H No gnomAD
rs1472747319 1339 C>G No gnomAD
rs1426376893 1339 C>W No Ensembl
rs755967049 1340 I>M No ExAC
TOPMed
gnomAD
rs1471226955 1340 I>V No Ensembl
rs767162841 1342 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs761705954 1343 A>V No ExAC
gnomAD
rs1256275079 1344 E>K No TOPMed
gnomAD
rs751467047 1346 H>L No ExAC
gnomAD
rs1348979571 1347 T>A No TOPMed
gnomAD
rs930559700 1348 K>R No TOPMed
gnomAD
COSM938931
COSM4874936
1349 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776530688 1350 V>A No ExAC
rs1352492048 1350 V>M No gnomAD
rs1036294156 1352 C>S No TOPMed
gnomAD
rs1036294156 1352 C>Y No TOPMed
gnomAD
rs771063766 1353 V>L No ExAC
gnomAD
rs1225263157 1354 D>N No TOPMed
gnomAD
rs1225263157 1354 D>Y No TOPMed
gnomAD
rs1261194298 1355 S>A No TOPMed
gnomAD
rs1261194298 1355 S>P No TOPMed
gnomAD
rs980462939 1356 T>I No TOPMed
gnomAD
rs761028766 1357 D>E No ExAC
TOPMed
gnomAD
rs139664756 1358 D>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM6072400
COSM6072401
1358 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs139664756 1358 D>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748495397 1359 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1445476814 1359 L>P No TOPMed
gnomAD
rs773322171 1360 L>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs980893693 1361 F>L No TOPMed
gnomAD
rs1413652783 1362 T>S No TOPMed
gnomAD
TCGA novel 1364 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1479807856 1365 K>Q No gnomAD
COSM2065044
rs756337041
COSM2065043
1367 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs562228123 1367 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs756337041 1367 R>S No ExAC
TOPMed
gnomAD
rs1300102262 1370 K>E No TOPMed
rs1943836099 1371 V>L No TOPMed
rs774856058 1372 W>* No ExAC
gnomAD
rs762262699 1372 W>R No ExAC
TOPMed
gnomAD
COSM4874236
COSM938930
1375 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2137327940 1377 G>V No Ensembl
TCGA novel 1378 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1367079034 1378 Q>R No gnomAD
rs1565677895 1379 E>K No Ensembl
rs1943833125 1380 I>R No Ensembl
rs543953019 1381 M>I No 1000Genomes
TOPMed
rs916696180 1381 M>L No TOPMed
gnomAD
rs1943832504 1381 M>T No TOPMed
rs916696180 1381 M>V No TOPMed
gnomAD
rs764380324 1383 L>R No ExAC
gnomAD
rs1416916210 1383 L>V No gnomAD
rs775777214 1384 G>R No ExAC
TOPMed
gnomAD
rs775777214 1384 G>W No ExAC
TOPMed
gnomAD
rs1407687334 1385 G>R No TOPMed
gnomAD
rs1407687334 1385 G>S No TOPMed
gnomAD
rs769466593 1385 G>V No ExAC
TOPMed
gnomAD
rs1487519274 1386 H>Y No TOPMed
rs1943828624 1387 P>L No Ensembl
rs2137326315 1388 N>H No Ensembl
rs2137326172 1389 N>H No Ensembl
rs745549119 1389 N>I No ExAC
TOPMed
gnomAD
rs2137326008 1389 N>K No Ensembl
rs745549119 1389 N>S No ExAC
TOPMed
gnomAD
rs1943827345 1391 V>G No Ensembl
rs139013210 1391 V>M No ESP
ExAC
TOPMed
gnomAD
COSM75151
rs746875582
COSM4947701
1396 C>Y ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1202745618 1397 N>D No gnomAD
rs925281361 1398 Y>C No TOPMed
gnomAD
rs925281361 1398 Y>F No TOPMed
gnomAD
rs771051669 1399 T>I No Ensembl
TCGA novel 1399 T>Y Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2137325012 1401 L>W No Ensembl
rs758321044 1403 F>L No ExAC
gnomAD
rs1344148767 1404 T>S No gnomAD
rs2137324478 1405 V>G No Ensembl
rs747949177 1405 V>I No ExAC
TOPMed
gnomAD
COSM1299335
COSM4812061
1406 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2137324413 1406 S>L No Ensembl
rs778610172 1407 T>A No ExAC
TOPMed
gnomAD
rs2137324202 1408 S>F No Ensembl
rs1379688467 1409 Y>S No TOPMed
gnomAD
rs2137323943 1410 I>M No Ensembl
rs190902651 1410 I>V No 1000Genomes
ExAC
gnomAD
rs750669566 1412 V>L No ExAC
TOPMed
gnomAD
rs2137323697 1413 W>* No Ensembl
rs1943821797 1413 W>G No TOPMed
rs2137323534 1418 S>L No Ensembl
rs201680308 1418 S>T No ESP
ExAC
TOPMed
gnomAD
rs974476147 1419 A>T No gnomAD
rs757338165 1420 K>E No ExAC
TOPMed
gnomAD
rs757338165 1420 K>Q No ExAC
TOPMed
gnomAD
rs2137323180 1421 C>G No Ensembl
rs751709193 1421 C>S No ExAC
TOPMed
gnomAD
rs751709193 1421 C>Y No ExAC
TOPMed
gnomAD
rs1164718381
COSM1705378
COSM1705377
1423 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs764649339 1424 T>A No ExAC
TOPMed
gnomAD
rs1291824309 1425 L>V No TOPMed
gnomAD
rs781392170 1428 S>L No ExAC
gnomAD
rs1297147858 1429 G>A No TOPMed
gnomAD
rs1297147858 1429 G>D No TOPMed
gnomAD
rs777756778 1430 Q>E No ExAC
gnomAD
rs758899586 1430 Q>H No ExAC
gnomAD
rs1943610952 1433 L>F No TOPMed
TCGA novel 1434 G>W Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1943610184 1435 D>E No Ensembl
rs1305397666 1435 D>N No TOPMed
gnomAD
rs1226311136 1435 D>V No TOPMed
rs144392523 1436 A>D No ESP
ExAC
TOPMed
gnomAD
rs144392523 1436 A>V No ESP
ExAC
TOPMed
gnomAD
rs200589960 1437 C>F No ESP
ExAC
TOPMed
gnomAD
rs200589960 1437 C>S No ESP
ExAC
TOPMed
gnomAD
rs200589960 1437 C>Y No ESP
ExAC
TOPMed
gnomAD
rs1943608853 1439 A>P No TOPMed
rs1943608853 1439 A>T No TOPMed
rs766103846 1440 S>I No ExAC
TOPMed
gnomAD
TCGA novel 1440 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs185075080 1440 S>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs766103846 1440 S>T No ExAC
TOPMed
gnomAD
rs772735255 1441 T>I No ExAC
gnomAD
COSM4947791
rs771502610
COSM1361315
1443 R>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761755690
COSM3416801
COSM3416802
1443 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1943606674 1444 T>I No gnomAD
rs1259827334 1445 V>A No TOPMed
gnomAD
TCGA novel 1446 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1565665239 1447 I>T No Ensembl
rs774163102 1448 P>T No ExAC
TOPMed
gnomAD
rs2137272949 1450 G>E No Ensembl
rs369666213 1452 N>D No ESP
ExAC
gnomAD
rs369666213 1452 N>H No ESP
ExAC
gnomAD
TCGA novel 1454 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs749073888 1454 I>V No ExAC
gnomAD
rs1427117718 1455 N>D No TOPMed
gnomAD
rs771111885 1458 A>S No ExAC
TOPMed
gnomAD
rs747264491 1458 A>V No ExAC
TOPMed
gnomAD
rs548227296 1459 L>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1943602400 1460 N>H No Ensembl
rs530018336 1460 N>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs1255084857 1461 P>S No gnomAD
RCV000894967
rs748963082
1463 G>D No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs568874833 1464 T>I No 1000Genomes
ExAC
gnomAD
rs1943600335 1465 F>V No TOPMed
rs1943599861 1466 L>F No TOPMed
rs1366357542 1466 L>P No gnomAD
rs1300196237 1467 Y>C No TOPMed
gnomAD
rs1300196237 1467 Y>F No TOPMed
gnomAD
rs1290102511 1467 Y>H No TOPMed
gnomAD
rs1007813259 1470 S>F No Ensembl
rs1381233597 1471 G>E No TOPMed
gnomAD
rs149234238 1474 V>I No ESP
TOPMed
gnomAD
rs149234238 1474 V>L No ESP
TOPMed
gnomAD
COSM6072403
COSM6072402
1475 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1467627382 1476 M>I No gnomAD
rs1372844076 1478 D>N No TOPMed
TCGA novel 1479 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs755587423 1479 L>V No ExAC
TOPMed
gnomAD
rs1187806057 1484 S>C No gnomAD
TCGA novel 1484 S>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1425121304 1485 T>A No gnomAD
COSM3460387
COSM3460386
1486 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1332172227 1490 G>E No TOPMed
TCGA novel 1493 G>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs755501569 1493 G>S No ExAC
gnomAD
rs1364901418 1494 P>H No TOPMed
rs756554787 1494 P>S No ExAC
gnomAD
rs1222473844 1496 M>I No TOPMed
rs750868436 1496 M>L No ExAC
gnomAD
rs750868436 1496 M>V No ExAC
gnomAD
rs767064636 1498 L>F No ExAC
TOPMed
gnomAD
TCGA novel 1499 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs751006090 1500 V>A No ExAC
gnomAD
TCGA novel 1502 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs559104078 1503 I>N No 1000Genomes
ExAC
gnomAD
rs559104078 1503 I>S No 1000Genomes
ExAC
gnomAD
rs931221280 1503 I>V No Ensembl
rs1352452589 1505 S>G No TOPMed
gnomAD
rs2137197164 1505 S>N No Ensembl
rs775422512 1506 G>E No ExAC
gnomAD
rs1943301002 1506 G>R No Ensembl
rs375548931 1508 D>N No ESP
ExAC
gnomAD
rs1565649083 1508 D>V No Ensembl
rs375548931 1508 D>Y No ESP
ExAC
gnomAD
rs1158024107 1515 K>E No gnomAD
rs1023072936 1516 D>G No TOPMed
gnomAD
rs1023072936 1516 D>V No TOPMed
gnomAD
rs1472614748 1517 H>R No gnomAD
TCGA novel 1518 Y>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1518 Y>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1378693683
COSM368030
1521 M>I lung [Cosmic] No cosmic curated
gnomAD
rs756823322 1521 M>V No ExAC
gnomAD
rs1023408067 1524 V>I No Ensembl
rs1324792116 1525 T>A No TOPMed
rs1943123168 1525 T>I No TOPMed
COSM4899635
COSM4899636
1526 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs777209231 1528 A>G No ExAC
TOPMed
gnomAD
rs777209231 1528 A>V No ExAC
TOPMed
gnomAD
rs1448038974 1529 L>P No gnomAD
rs1209759462 1530 G>A No gnomAD
rs1943120717 1533 S>R No Ensembl
rs1362336549 1536 H>Y No gnomAD
rs1262925987 1537 N>S No TOPMed
gnomAD
rs759553232 1540 P>A No ExAC
gnomAD
rs1943119388 1540 P>L No Ensembl
COSM3871521
COSM3871522
1541 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1592028243 1541 P>S No Ensembl
rs753536074 1543 Y>C No ExAC
gnomAD
rs1943118349 1544 D>G No Ensembl
rs766218025 1546 I>V No ExAC
gnomAD
rs780066416 1547 E>D No ExAC
gnomAD
TCGA novel 1548 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1346548419 1548 A>V No gnomAD
rs774716605 1551 I>S No ExAC
TOPMed
gnomAD
rs1413375205 1551 I>V No TOPMed
gnomAD
rs763113489 1553 G>V No ExAC
gnomAD
rs769068732 1553 G>W No ExAC
gnomAD
rs775761627 1554 D>H No ExAC
TOPMed
gnomAD
rs775761627 1554 D>N No ExAC
TOPMed
gnomAD
rs1429547646 1557 F>C No TOPMed
rs1235926181 1558 S>I No gnomAD
rs1943113825 1559 G>R No TOPMed
rs1478111510 1560 S>A No gnomAD
rs982138535 1560 S>F No TOPMed
rs2137153523 1563 N>T No 1000Genomes
rs746422413 1565 I>V No ExAC
TOPMed
gnomAD
rs771343710 1569 D>G No ExAC
gnomAD
rs746600657 1572 Q>K No ExAC
TOPMed
gnomAD
rs1381721611 1572 Q>P No TOPMed
rs191093660 1574 D>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs1273856513 1574 D>G No gnomAD
TCGA novel 1574 D>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM1734419
COSM1734420
1577 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1157266802 1578 Q>* No gnomAD
rs748814688 1579 V>I No ExAC
TOPMed
gnomAD
rs780029810 1580 P>S No ExAC
gnomAD
rs756170780 1581 N>D No ExAC
gnomAD
rs750213364 1582 A>S No ExAC
gnomAD
rs1942972642 1583 H>Y No TOPMed
gnomAD
rs1490739730 1584 K>R No TOPMed
rs1189183372 1585 D>G No TOPMed
gnomAD
rs1189183372 1585 D>V No TOPMed
gnomAD
rs767452046 1586 W>L No ExAC
gnomAD
rs758649013 1587 V>I No ExAC
TOPMed
gnomAD
rs765166685 1591 G>V No ExAC
TOPMed
gnomAD
rs1942969389 1592 V>L No gnomAD
rs2137122371 1593 V>L No Ensembl
rs141385146 1596 H>Y No ESP
ExAC
gnomAD
rs537501726 1598 V>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs537501726 1598 V>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1565631039 1600 L>P No gnomAD
rs945173948 1600 L>V No Ensembl
rs1439161364 1603 C>G No Ensembl
COSM4041535
COSM4041536
1606 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs766876071 1606 G>D No ExAC
gnomAD
rs1437592707 1615 T>A No gnomAD
rs773513818 1615 T>I No ExAC
gnomAD
rs773513818 1615 T>N No ExAC
gnomAD
rs893540223 1616 F>S No TOPMed
rs1347330994 1617 M>T No gnomAD
rs1942965110 1621 E>D No TOPMed
rs772438071 1623 K>N No ExAC
TOPMed
gnomAD
rs747732382 1624 G>C No ExAC
gnomAD
rs10243 1624 G>D No TOPMed
rs747732382 1624 G>S No ExAC
gnomAD
rs1161324215 1625 H>N No TOPMed
gnomAD
rs943051896 1625 H>R No Ensembl
rs768248912 1626 D>G No ExAC
gnomAD
rs1942962671 1627 S>T No gnomAD
rs1454548070 1629 I>F No TOPMed
gnomAD
rs1942961799 1629 I>N No TOPMed
rs1454548070 1629 I>V No TOPMed
gnomAD
rs748809944 1630 N>S No ExAC
TOPMed
gnomAD
rs1307686317 1631 A>D No TOPMed
gnomAD
rs148144546 1632 I>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs756075691 1632 I>M No ExAC
gnomAD
rs148144546 1632 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
COSM4862248
COSM693277
1634 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs781080527 1636 S>F No ExAC
TOPMed
gnomAD
rs781080527 1636 S>Y No ExAC
TOPMed
gnomAD
rs1301181207 1638 H>D No TOPMed
gnomAD
rs1942957889 1641 T>S No Ensembl
rs1373843147 1642 A>P No gnomAD
rs1373843147 1642 A>S No gnomAD
rs1942105749 1644 D>E No Ensembl
rs1048446665 1645 D>E No TOPMed
rs777458254 1646 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs777458254 1646 R>G No ExAC
TOPMed
gnomAD
COSM220207
rs755174363
1646 R>Q NS Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs559949605 1647 T>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs559949605 1647 T>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs1240016204 1648 V>E No TOPMed
gnomAD
rs780041023 1648 V>M No ExAC
gnomAD
rs993800051 1649 R>I No TOPMed
gnomAD
rs1348946004 1651 W>S No TOPMed
gnomAD
rs896750929 1652 K>R No TOPMed
gnomAD
rs1942102415 1653 A>G No Ensembl
rs376346007 1654 R>C No ESP
ExAC
TOPMed
gnomAD
rs373406994
COSM4152803
1654 R>H kidney [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs376346007 1654 R>S No ESP
ExAC
TOPMed
gnomAD
rs370691140 1655 N>S No ESP
ExAC
TOPMed
gnomAD
rs1942101240 1655 N>Y No Ensembl
rs199566972 1656 L>F No Ensembl
rs1340484297 1656 L>S No gnomAD
COSM370736
rs1253389910
1657 Q>P lung [Cosmic] No cosmic curated
gnomAD
TCGA novel 1658 D>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1243077166 1659 G>S No gnomAD
rs1266144841 1660 Q>H No Ensembl
rs181255946 1660 Q>L No 1000Genomes
TCGA novel 1661 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1321308319 1661 I>T No TOPMed
gnomAD
rs1235189460 1662 S>P No TOPMed
gnomAD
rs893438891 1665 G>E No Ensembl
rs769657363 1666 D>H No ExAC
TOPMed
gnomAD
rs769657363 1666 D>N No ExAC
TOPMed
gnomAD
rs769657363 1666 D>Y No ExAC
TOPMed
gnomAD
rs775014213 1667 L>M No ExAC
gnomAD
rs769639690 1668 G>E No ExAC
gnomAD
rs769639690 1668 G>V No ExAC
gnomAD
rs770949743 1671 I>N No ExAC
TOPMed
gnomAD
rs770949743 1671 I>S No ExAC
TOPMed
gnomAD
rs770949743 1671 I>T No ExAC
TOPMed
gnomAD
rs777563049 1672 A>V No ExAC
gnomAD
rs771768221 1673 S>N No ExAC
gnomAD
rs1409209542 1674 N>D No gnomAD
COSM4934137
COSM4934136
1674 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs780239746 1675 N>L No ExAC
TOPMed
gnomAD

1 associated diseases with Q7Z4S6

[MIM: 135700]: Fibrosis of extraocular muscles, congenital, 1 (CFEOM1)

A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Patients affected by congenital fibrosis of extraocular muscles type 1 show an absence of the superior division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Patients affected by congenital fibrosis of extraocular muscles type 1 show an absence of the superior division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei. . Note=The disease is caused by variants affecting the gene represented in this entry.

10 regional properties for Q7Z4S6

Type Name Position InterPro Accession
repeat Leucine-rich repeat 762 - 784 IPR001611-1
repeat Leucine-rich repeat 818 - 841 IPR001611-2
repeat Leucine-rich repeat 876 - 898 IPR001611-3
repeat Leucine-rich repeat 932 - 954 IPR001611-4
repeat Leucine-rich repeat 990 - 1008 IPR001611-5
domain DAPIN domain 1 - 95 IPR004020
domain NACHT nucleoside triphosphatase 211 - 528 IPR007111
domain NACHT-associated domain 128 - 201 IPR029495
domain NOD1/2, winged helix domain 460 - 512 IPR041075
domain NACHT, LRR and PYD domains-containing protein, helical domain HD2 514 - 621 IPR041267

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton
  • Cell projection, dendrite
  • Cell projection, axon
  • In neurons, localized to axons and dendrites
PANTHER Family PTHR47969 CHROMOSOME-ASSOCIATED KINESIN KIF4A-RELATED
PANTHER Subfamily PTHR47969:SF30 KINESIN MOTOR DOMAIN-CONTAINING PROTEIN
PANTHER Protein Class cytoskeletal protein
microtubule binding motor protein
microtubule or microtubule-binding cytoskeletal protein
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
kinesin complex Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work.
microtubule Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.

5 GO annotations of molecular function

Name Definition
ankyrin repeat binding Binding to an ankyrin repeat of a protein. Ankyrin repeats are tandemly repeated modules of about 33 amino acids; each repeat folds into a helix-loop-helix structure with a beta-hairpin/loop region projecting out from the helices at a 90-degree angle, and repeats stack to form an L-shaped structure.
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction
microtubule binding Binding to a microtubule, a filament composed of tubulin monomers.
microtubule motor activity A motor activity that generates movement along a microtubule, driven by ATP hydrolysis.

1 GO annotations of biological process

Name Definition
microtubule-based movement A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.

20 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O95239 KIF4A Chromosome-associated kinesin KIF4A Homo sapiens (Human) SS
Q2VIQ3 KIF4B Chromosome-associated kinesin KIF4B Homo sapiens (Human) SS
P33176 KIF5B Kinesin-1 heavy chain Homo sapiens (Human) EV
O60282 KIF5C Kinesin heavy chain isoform 5C Homo sapiens (Human) EV
Q12840 KIF5A Kinesin heavy chain isoform 5A Homo sapiens (Human) EV
Q2M1P5 KIF7 Kinesin-like protein KIF7 Homo sapiens (Human) EV
Q86VH2 KIF27 Kinesin-like protein KIF27 Homo sapiens (Human) SS
O75037 KIF21B Kinesin-like protein KIF21B Homo sapiens (Human) EV
Q9P2E2 KIF17 Kinesin-like protein KIF17 Homo sapiens (Human) EV
O00139 KIF2A Kinesin-like protein KIF2A Homo sapiens (Human) PR
Q9NQT8 KIF13B Kinesin-like protein KIF13B Homo sapiens (Human) EV
Q9H1H9 KIF13A Kinesin-like protein KIF13A Homo sapiens (Human) SS
O43896 KIF1C Kinesin-like protein KIF1C Homo sapiens (Human) SS
Q7M6Z4 Kif27 Kinesin-like protein KIF27 Mus musculus (Mouse) SS
Q9QXL1 Kif21b Kinesin-like protein KIF21B Mus musculus (Mouse) SS
B7ZNG0 Kif7 Kinesin-like protein KIF7 Mus musculus (Mouse) SS
Q9QXL2 Kif21a Kinesin-like protein KIF21A Mus musculus (Mouse) EV SS
Q7M6Z5 Kif27 Kinesin-like protein KIF27 Rattus norvegicus (Rat) SS
F1M5N7 Kif21b Kinesin-like protein KIF21B Rattus norvegicus (Rat) SS
Q58G59 kif7 Kinesin-like protein kif7 Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MLGAPDESSV RVAVRIRPQL AKEKIEGCHI CTSVTPGEPQ VFLGKDKAFT FDYVFDIDSQ
70 80 90 100 110 120
QEQIYIQCIE KLIEGCFEGY NATVFAYGQT GAGKTYTMGT GFDVNIVEEE LGIISRAVKH
130 140 150 160 170 180
LFKSIEEKKH IAIKNGLPAP DFKVNAQFLE LYNEEVLDLF DTTRDIDAKS KKSNIRIHED
190 200 210 220 230 240
STGGIYTVGV TTRTVNTESE MMQCLKLGAL SRTTASTQMN VQSSRSHAIF TIHVCQTRVC
250 260 270 280 290 300
PQIDADNATD NKIISESAQM NEFETLTAKF HFVDLAGSER LKRTGATGER AKEGISINCG
310 320 330 340 350 360
LLALGNVISA LGDKSKRATH VPYRDSKLTR LLQDSLGGNS QTIMIACVSP SDRDFMETLN
370 380 390 400 410 420
TLKYANRARN IKNKVMVNQD RASQQINALR SEITRLQMEL MEYKTGKRII DEEGVESIND
430 440 450 460 470 480
MFHENAMLQT ENNNLRVRIK AMQETVDALR SRITQLVSDQ ANHVLARAGE GNEEISNMIH
490 500 510 520 530 540
SYIKEIEDLR AKLLESEAVN ENLRKNLTRA TARAPYFSGS STFSPTILSS DKETIEIIDL
550 560 570 580 590 600
AKKDLEKLKR KEKRKKKRLQ KLEESNREER SVAGKEDNTD TDQEKKEEKG VSERENNELE
610 620 630 640 650 660
VEESQEVSDH EDEEEEEEEE EDDIDGGESS DESDSESDEK ANYQADLANI TCEIAIKQKL
670 680 690 700 710 720
IDELENSQKR LQTLKKQYEE KLMMLQHKIR DTQLERDQVL QNLGSVESYS EEKAKKVRSE
730 740 750 760 770 780
YEKKLQAMNK ELQRLQAAQK EHARLLKNQS QYEKQLKKLQ QDVMEMKKTK VRLMKQMKEE
790 800 810 820 830 840
QEKARLTESR RNREIAQLKK DQRKRDHQLR LLEAQKRNQE VVLRRKTEEV TALRRQVRPM
850 860 870 880 890 900
SDKVAGKVTR KLSSSDAPAQ DTGSSAAAVE TDASRTGAQQ KMRIPVARVQ ALPTPATNGN
910 920 930 940 950 960
RKKYQRKGLT GRVFISKTAR MKWQLLERRV TDIIMQKMTI SNMEADMNRL LKQREELTKR
970 980 990 1000 1010 1020
REKLSKRREK IVKENGEGDK NVANINEEME SLTANIDYIN DSISDCQANI MQMEEAKEEG
1030 1040 1050 1060 1070 1080
ETLDVTAVIN ACTLTEARYL LDHFLSMGIN KGLQAAQKEA QIKVLEGRLK QTEITSATQN
1090 1100 1110 1120 1130 1140
QLLFHMLKEK AELNPELDAL LGHALQDLDS VPLENVEDST DEDAPLNSPG SEGSTLSSDL
1150 1160 1170 1180 1190 1200
MKLCGEVKPK NKARRRTTTQ MELLYADSSE LASDTSTGDA SLPGPLTPVA EGQEIGMNTE
1210 1220 1230 1240 1250 1260
TSGTSAREKE LSPPPGLPSK IGSISRQSSL SEKKIPEPSP VTRRKAYEKA EKSKAKEQKH
1270 1280 1290 1300 1310 1320
SDSGTSEASL SPPSSPPSRP RNELNVFNRL TVSQGNTSVQ QDKSDESDSS LSEVHRSSRR
1330 1340 1350 1360 1370 1380
GIINPFPASK GIRAFPLQCI HIAEGHTKAV LCVDSTDDLL FTGSKDRTCK VWNLVTGQEI
1390 1400 1410 1420 1430 1440
MSLGGHPNNV VSVKYCNYTS LVFTVSTSYI KVWDIRDSAK CIRTLTSSGQ VTLGDACSAS
1450 1460 1470 1480 1490 1500
TSRTVAIPSG ENQINQIALN PTGTFLYAAS GNAVRMWDLK RFQSTGKLTG HLGPVMCLTV
1510 1520 1530 1540 1550 1560
DQISSGQDLI ITGSKDHYIK MFDVTEGALG TVSPTHNFEP PHYDGIEALT IQGDNLFSGS
1570 1580 1590 1600 1610 1620
RDNGIKKWDL TQKDLLQQVP NAHKDWVCAL GVVPDHPVLL SGCRGGILKV WNMDTFMPVG
1630 1640 1650 1660 1670
EMKGHDSPIN AICVNSTHIF TAADDRTVRI WKARNLQDGQ ISDTGDLGED IASN