O14795

SS
Gene name
UNC13B (UNC13)
Protein name
Protein unc-13 homolog B
Names
Munc13-2 , munc13
Species
Homo sapiens (Human)
KEGG Pathway
hsa:10497
EC number
Protein Class

Descriptions

Unc13, a phorbol ester/diacylglycerol-binding protein, is a synaptic hub protein required for fast chemical synaptic transmission by directly regulating SNAREs, and its Syntaxin-interacting MUN domain is essential for Unc13 function. The C1-C2B domain N-terminally adjacent to the MUN domain inhibits Unc13 function by tightly coupled to the MUN domain, which is disinhibited by diacylglycerol (DAG) or calcium binding. The disinhibition step allows for the superpriming of synaptic vesicles. Also, the addition of flexibility to the linker between the C2B and MUN domains relieves the autoinhibited state.

Autoinhibitory domains (AIDs)

478-527 (C1 domain) SS

Target domain

917-1405 (MUN domain)

Relief mechanism

Ligand binding

Assay

583-711 (C2B domain) SS

Target domain

917-1405 (MUN domain)

Relief mechanism

Ligand binding

Assay

712-916 (C2B-MUN linker region) SS

Target domain

917-1405 (MUN domain)

Relief mechanism

Ligand binding

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for O14795

Entry ID Method Resolution Chain Position Source
AF-O14795-F1 Predicted AlphaFoldDB

1635 variants for O14795

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1174051334 3 L>P No TOPMed
gnomAD
rs1204480367 4 L>H No Ensembl
rs1466658041 5 C>S No gnomAD
rs1333762433 6 V>L No gnomAD
rs71521257 7 R>L No ESP
ExAC
TOPMed
gnomAD
rs71521257 7 R>P No ESP
ExAC
TOPMed
gnomAD
rs746266458 8 V>F No ExAC
TOPMed
gnomAD
rs746266458 8 V>L No ExAC
TOPMed
gnomAD
rs750724373 9 K>E No ExAC
TOPMed
gnomAD
rs750724373 9 K>Q No ExAC
TOPMed
gnomAD
rs867630269 11 A>T No TOPMed
gnomAD
rs1824958490 13 F>L No TOPMed
rs758806383 14 Q>R No ExAC
TOPMed
gnomAD
rs780634676 15 G>S No ExAC
TOPMed
gnomAD
rs1364595901 15 G>V No TOPMed
gnomAD
rs1824959206 16 S>A No Ensembl
rs200386049 20 F>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs987366980 22 T>I No TOPMed
rs1354111325 23 Y>* No gnomAD
rs1564081136 23 Y>C No gnomAD
rs1564081136 23 Y>S No gnomAD
rs1199217477
COSM5194166
COSM455897
 25 T>I Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1825179055 29 Q>* No Ensembl
rs755404131 31 V>M No ExAC
TOPMed
gnomAD
rs1466473896 33 S>N No TOPMed
rs781731760 34 T>A No ExAC
gnomAD
rs748649059 35 T>A No ExAC
TOPMed
gnomAD
rs756726680 35 T>S No ExAC
TOPMed
gnomAD
rs1321949344 36 V>A No TOPMed
rs1825180785 37 A>P No TOPMed
gnomAD
rs1825180785 37 A>S No TOPMed
gnomAD
rs1825181003 38 V>D No Ensembl
rs140222663
COSM1108621
 39 R>C endometrium [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs745505422 39 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs775079813 40 G>A No ExAC
TOPMed
gnomAD
rs771724849 40 G>C No ExAC
gnomAD
rs775079813 40 G>D No ExAC
TOPMed
gnomAD
rs768383834 41 D>H No ExAC
gnomAD
rs1825182182 42 Q>* No TOPMed
rs1825182342 42 Q>L No Ensembl
COSM170114
rs776598642
 43 P>S large_intestine [Cosmic] No cosmic curated
ExAC
gnomAD
rs1378123402 44 S>F No gnomAD
rs1825182646 44 S>P No TOPMed
rs1564081215 45 W>* No Ensembl
rs532853338 47 Q>* No 1000Genomes
TOPMed
gnomAD
rs532853338 47 Q>E No 1000Genomes
TOPMed
gnomAD
rs1452365666 50 M>V No gnomAD
rs746485028 55 R>C No ExAC
TOPMed
gnomAD
COSM1108622
rs377586506
 55 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs377586506 55 R>L No ESP
ExAC
TOPMed
gnomAD
rs1825516953 56 L>V No Ensembl
rs773381833 57 D>N No ExAC
gnomAD
rs370292765 58 L>M No ESP
ExAC
TOPMed
gnomAD
rs370292765 58 L>V No ESP
ExAC
TOPMed
gnomAD
rs1825517532 59 G>A No gnomAD
rs1223009985 60 L>P No gnomAD
rs530842528 60 L>V No 1000Genomes
ExAC
gnomAD
rs1825518727 62 V>A No gnomAD
rs1825518566 62 V>M No Ensembl
rs865795598 63 E>V No Ensembl
rs1355285032 64 V>A No TOPMed
gnomAD
rs1355285032 64 V>E No TOPMed
gnomAD
rs1825519218 64 V>I No TOPMed
rs1251167199 65 W>* No gnomAD
rs1000498085 65 W>R No TOPMed
gnomAD
rs753018791 66 N>K No ExAC
TOPMed
gnomAD
rs756548220 67 K>R No ExAC
TOPMed
gnomAD
rs993513945 68 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs993513945 68 G>V No TOPMed
gnomAD
rs1304601631 70 I>N No gnomAD
rs1225217095 70 I>V No TOPMed
gnomAD
rs749887218 72 D>G No ExAC
gnomAD
rs1382307506 73 T>A No TOPMed
rs1825522466 74 M>I No gnomAD
rs373656914 74 M>R No ESP
ExAC
TOPMed
gnomAD
rs373656914 74 M>T No ESP
ExAC
TOPMed
gnomAD
rs879019590 74 M>V No gnomAD
rs779496253 75 V>M No ExAC
TOPMed
gnomAD
COSM1187706
rs1282392333
 76 G>R lung [Cosmic] No cosmic curated
Ensembl
rs1295459092 78 V>A No gnomAD
rs1825523352 78 V>L No Ensembl
rs1564084292 79 W>S No Ensembl
rs367834612
COSM248207
 81 A>V prostate [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1030611754 83 K>T No TOPMed
gnomAD
rs769802084 84 T>A No ExAC
TOPMed
gnomAD
rs1825525109 85 I>V No TOPMed
gnomAD
rs372260676
COSM3657122
COSM3657121
 86 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
NCI-TCGA
TOPMed
gnomAD
rs149086575 86 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1825525806 87 Q>H No Ensembl
rs143163503 87 Q>L No ESP
ExAC
TOPMed
gnomAD
rs771043101 88 S>L No ExAC
TOPMed
gnomAD
rs759748590 89 D>V No ExAC
gnomAD
rs549097938 90 E>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs778986875 92 G>E No ExAC
rs1483577097 92 G>R No TOPMed
gnomAD
rs778986875 92 G>V No ExAC
rs1378754251 93 P>R No TOPMed
gnomAD
TCGA novel 97 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2131534388 97 S>F No Ensembl
TCGA novel 98 T>F Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1241099710 98 T>I No gnomAD
rs1443145917 100 E>G No TOPMed
rs1825590206 100 E>Q No Ensembl
rs772290076 101 A>T No ExAC
gnomAD
rs775667930 101 A>V No ExAC
TOPMed
gnomAD
rs776535464 102 E>K No ExAC
TOPMed
gnomAD
rs140811719 103 T>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762313172 104 L>I No ExAC
gnomAD
rs201405260 105 M>T No TOPMed
gnomAD
rs1825591926 106 K>* No Ensembl
rs758943835 108 D>G No ExAC
gnomAD
rs751028566 108 D>N No ExAC
TOPMed
gnomAD
rs987456576 109 E>* No TOPMed
gnomAD
rs372197543 110 I>N No ESP
ExAC
TOPMed
gnomAD
rs1825593071 112 G>E No Ensembl
COSM1108623 115 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763927171 115 N>S No ExAC
TOPMed
gnomAD
rs1825593688 116 P>Q No Ensembl
rs1825593807 117 T>I No TOPMed
rs1587437725 118 P>L No Ensembl
rs757180304 119 H>Q No ExAC
TOPMed
gnomAD
rs1212197834 119 H>R No gnomAD
rs1825594047
COSM3848458
COSM3848457
 119 H>Y Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1490353965 120 K>E No Ensembl
rs778739015
COSM186296
 120 K>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1284694982 122 L>F No TOPMed
gnomAD
rs1199056137
COSM1108624
 122 L>V Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1825595075 123 L>P No Ensembl
rs1825595389 124 D>E No Ensembl
rs1825595232 124 D>G No TOPMed
rs760741456 125 T>A No ExAC
TOPMed
gnomAD
rs760741456 125 T>P No ExAC
TOPMed
gnomAD
rs1587437789 126 R>G No Ensembl
rs758403290 126 R>S No ExAC
gnomAD
rs374929028 128 E>K No ESP
ExAC
TOPMed
gnomAD
rs374929028 128 E>Q No ESP
ExAC
TOPMed
gnomAD
rs1435394601 129 L>M No TOPMed
gnomAD
rs1435394601 129 L>V No TOPMed
gnomAD
rs1174843197 129 L>W No gnomAD
rs768868887 130 P>R No ExAC
rs1307680444 130 P>T No TOPMed
rs776939055 131 F>L No ExAC
TOPMed
gnomAD
rs1231713492 133 I>M No gnomAD
rs1271683211 134 P>T No gnomAD
rs1825907608 136 E>* No Ensembl
rs1825907755 137 E>K No Ensembl
rs374199987 138 A>G No ESP
ExAC
TOPMed
gnomAD
rs374199987 138 A>V No ESP
ExAC
TOPMed
gnomAD
rs755140244 140 Y>* No ExAC
TOPMed
gnomAD
rs747121440 140 Y>C No ExAC
gnomAD
rs1268328878 141 W>R No TOPMed
gnomAD
TCGA novel 142 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs758019684 142 T>I No gnomAD
rs758019684 142 T>N No gnomAD
rs1825909729 143 Y>C No TOPMed
rs1196414976 145 W>* No gnomAD
rs1347641134 145 W>R No TOPMed
rs1825910601 146 E>K No TOPMed
rs781367547 147 Q>K No ExAC
gnomAD
rs748437868 149 N>S No ExAC
TOPMed
gnomAD
rs1164207289 150 A>D No gnomAD
rs1587450133 151 L>S No Ensembl
rs770046489 152 G>* No ExAC
gnomAD
rs1825911955 152 G>E No TOPMed
rs563439192 153 A>T No 1000Genomes
ExAC
gnomAD
TCGA novel 155 N>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs749704856 155 N>S No ExAC
TOPMed
gnomAD
rs771571357 156 E>K No ExAC
gnomAD
rs983207580 157 Y>C No TOPMed
gnomAD
rs983207580 157 Y>F No TOPMed
gnomAD
rs755015460 159 S>R No ExAC
gnomAD
rs751545089 159 S>T No ExAC
gnomAD
TCGA novel 163 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1827099521 164 Q>* No gnomAD
TCGA novel 164 Q>E Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1419590715 164 Q>H No gnomAD
rs1334526104 164 Q>L No TOPMed
gnomAD
rs1334526104 164 Q>R No TOPMed
gnomAD
rs111290100 165 R>G No Ensembl
rs925781049 165 R>K No TOPMed
gnomAD
rs147253508 166 K>N No ESP
ExAC
TOPMed
gnomAD
rs781395907 166 K>T No ExAC
gnomAD
rs756377466 167 P>Q No ExAC
TOPMed
gnomAD
rs777935396 169 P>H No ExAC
TOPMed
gnomAD
rs771517930 171 A>P No ExAC
gnomAD
rs1827101848 173 A>G No Ensembl
rs746417699 173 A>T No ExAC
TOPMed
gnomAD
rs991723837 174 Q>L No Ensembl
rs991723837 174 Q>P No Ensembl
rs768278226 175 C>R No ExAC
gnomAD
rs1827102349 175 C>Y No Ensembl
rs1564099010 176 S>P No gnomAD
rs1829317244 177 F>S No TOPMed
gnomAD
rs139127549 179 D>E No ESP
ExAC
TOPMed
gnomAD
rs1829317647 180 P>A No Ensembl
rs1311814904 181 D>N No TOPMed
rs759406668 182 S>G No ExAC
gnomAD
rs1364698882 182 S>I No gnomAD
rs1380878536 182 S>R No TOPMed
gnomAD
rs370449728 184 V>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370449728
COSM3382525
COSM1187708
 184 V>I lung pancreas [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141451741 185 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754109626 187 R>* No ExAC
TOPMed
gnomAD
rs754109626 187 R>G No ExAC
TOPMed
gnomAD
rs750849094
COSM3907102
COSM3907103
 187 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758780874 188 D>Y No ExAC
TOPMed
gnomAD
TCGA novel 189 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1183783299 190 D>G No TOPMed
gnomAD
rs202038986 191 Y>C No 1000Genomes
gnomAD
rs202038986 191 Y>F No 1000Genomes
gnomAD
rs139333262 192 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777319260 192 R>H No ExAC
TOPMed
gnomAD
rs139333262 192 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1235769574 193 S>N No Ensembl
rs964694672 194 E>K No TOPMed
gnomAD
TCGA novel 196 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1383629297 196 S>T No gnomAD
rs1829322409 198 S>C No TOPMed
rs1829322727 199 F>L No TOPMed
gnomAD
rs770578466 201 P>L No ExAC
TOPMed
gnomAD
rs146150117 201 P>S No ESP
TCGA novel 203 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs140204867 203 Y>H No ESP
TOPMed
rs745700736 204 H>R No ExAC
TOPMed
gnomAD
rs774096285 204 H>Y No ExAC
gnomAD
rs1454940277 205 T>A No gnomAD
rs138440338 205 T>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138440338 205 T>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1829324525 209 P>L No Ensembl
VAR_036615 209 P>S a colorectal cancer sample; somatic mutation [UniProt] No UniProt
rs775468232 210 N>K No ExAC
TOPMed
gnomAD
rs1380131690 210 N>S No gnomAD
rs373487566 211 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs553771154 211 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 212 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1318619581 212 S>P No gnomAD
rs1587560574 214 H>P No Ensembl
rs1374754333 214 H>Y No TOPMed
gnomAD
rs776854404 215 Q>* No ExAC
TOPMed
gnomAD
rs1020684900 215 Q>H No Ensembl
rs1008927423 215 Q>P No TOPMed
gnomAD
rs1829326689 217 P>L No TOPMed
gnomAD
rs1241520708 218 V>G No gnomAD
rs750722239 219 P>L No ExAC
TOPMed
gnomAD
COSM3657126
rs765577061
COSM3657125
 219 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765577061 219 P>T No ExAC
TOPMed
gnomAD
rs1417440480 220 V>L No gnomAD
rs146675814 221 R>* No ESP
ExAC
TOPMed
gnomAD
rs146675814 221 R>G No ESP
ExAC
TOPMed
gnomAD
rs373846094 221 R>L No ExAC
TOPMed
gnomAD
rs373846094 221 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs770226679
COSM3848460
COSM3848459
 222 S>L Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1419131624 222 S>P No TOPMed
rs1489347469 224 Q>H No TOPMed
COSM753527 224 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs778517841 225 Q>H No ExAC
gnomAD
rs1829329349 227 L>Q No TOPMed
gnomAD
rs771895950 230 G>R No ExAC
TOPMed
gnomAD
rs1353307920 231 S>N No TOPMed
gnomAD
rs1829329955 231 S>R No gnomAD
rs949699976 232 S>C No TOPMed
COSM3699677
rs148828097
COSM3699676
 232 S>T large_intestine [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs370437520 233 R>Q No ESP
ExAC
TOPMed
gnomAD
rs746908694 233 R>W No ExAC
TOPMed
gnomAD
rs776800953 234 D>G No ExAC
gnomAD
rs776800953 234 D>V No ExAC
gnomAD
rs1829331076 237 N>S No TOPMed
rs1829331330 238 D>A No TOPMed
rs35199210
VAR_037273
RCV000954446
 238 D>E No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1347928832 239 S>A No TOPMed
TCGA novel 239 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs773559713 240 M>V No ExAC
TOPMed
gnomAD
rs1587560874 245 L>F No Ensembl
rs766706373 246 D>N No ExAC
TOPMed
gnomAD
COSM3657127
COSM3657128
rs1829332462
 248 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1176695943 250 R>Q No TOPMed
gnomAD
rs1479667678 250 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs763367265 251 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs369977949 251 R>W No ExAC
TOPMed
gnomAD
rs1453859201 252 A>S No Ensembl
rs753256739 253 I>T No ExAC
gnomAD
rs1428978624 253 I>V No TOPMed
gnomAD
rs1337127689 255 P>T No TOPMed
gnomAD
rs2131860079 256 T>I No Ensembl
rs2131860096 257 S>G No Ensembl
rs1301158119 257 S>N No TOPMed
gnomAD
rs1564127858 259 S>N No Ensembl
rs768882532 260 R>S No TOPMed
rs368712468 261 Y>C No ESP
ExAC
TOPMed
gnomAD
COSM3779995
COSM1581895
rs199517826
 263 S>F Variant assessed as Somatic; MODERATE impact. urinary_tract haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200673646 264 S>P No ExAC
gnomAD
rs758018868 265 C>R No ExAC
gnomAD
rs779549254 265 C>S No ExAC
gnomAD
rs779549254 265 C>Y No ExAC
gnomAD
rs1830130318 266 N>D No gnomAD
rs751265402 266 N>K No ExAC
rs1353369408 267 V>E No gnomAD
rs754815011 267 V>L No ExAC
TOPMed
rs754815011 267 V>M No ExAC
TOPMed
rs748036568 268 S>N No ExAC
gnomAD
rs769857082 268 S>R No ExAC
TOPMed
gnomAD
rs1830131222 270 G>E No TOPMed
rs374242407 271 S>I No ESP
ExAC
TOPMed
gnomAD
rs374242407 271 S>N No ESP
ExAC
TOPMed
gnomAD
rs374242407 271 S>T No ESP
ExAC
TOPMed
gnomAD
rs771094380 272 S>C No ExAC
TOPMed
gnomAD
rs771094380 272 S>F No ExAC
TOPMed
gnomAD
rs2131860379 273 Q>H No Ensembl
rs150960215 274 L>P No ESP
ExAC
TOPMed
gnomAD
COSM3907106
COSM3907107
 275 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs746159249 275 S>G No ExAC
gnomAD
rs772413377 275 S>N No ExAC
TOPMed
gnomAD
rs1445854429 275 S>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs772413377 275 S>T No ExAC
TOPMed
gnomAD
rs1389909049 278 D>E No gnomAD
rs2131860452 278 D>G No Ensembl
rs775845912 278 D>H No ExAC
TOPMed
gnomAD
rs1401268383 279 Q>R No TOPMed
gnomAD
rs958281015 280 Y>C No Ensembl
rs761105470 280 Y>H No ExAC
TOPMed
gnomAD
rs990951015 281 H>D No TOPMed
gnomAD
rs368657999 281 H>Q No ESP
ExAC
TOPMed
gnomAD
COSM73199 281 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1564127999 282 E>D No TOPMed
COSM1108625
COSM5876186
rs1337561821
 282 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs762090249 283 Q>* No TOPMed
gnomAD
rs762090249 283 Q>E No TOPMed
gnomAD
rs1830134090 285 D>G No Ensembl
rs765979882 286 D>E No ExAC
TOPMed
gnomAD
rs1182183905 286 D>G No gnomAD
rs890880528 286 D>H No TOPMed
gnomAD
rs890880528 286 D>N No TOPMed
gnomAD
rs1225933036 287 H>P No TOPMed
gnomAD
rs1225933036 287 H>R No TOPMed
gnomAD
rs200296975 288 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372763906 288 R>W No 1000Genomes
ExAC
TOPMed
gnomAD
rs538965122 290 T>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs538965122 290 T>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs756069606 291 D>E No ExAC
TOPMed
rs777552275 292 S>L No ExAC
TOPMed
gnomAD
rs1830136147 293 I>T No Ensembl
rs1830136263 294 H>P No TOPMed
COSM4846894
COSM4846893
 294 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1830136378 295 S>P No TOPMed
rs757283180 297 H>R No ExAC
TOPMed
gnomAD
rs1830136505 297 H>Y No TOPMed
rs1404472673 300 H>Q No TOPMed
gnomAD
COSM6183252
COSM6183251
 301 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs931176124 301 S>G No TOPMed
gnomAD
rs746032041 301 S>N No ExAC
gnomAD
TCGA novel
rs1587593329
 302 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
COSM384146
COSM3657129
 303 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs775792785 305 D>E No ExAC
gnomAD
rs773363405
COSM1159401
 305 D>G pancreas [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1330230230 305 D>H No gnomAD
rs1330230230 305 D>N No gnomAD
rs1456503818 306 G>S No gnomAD
rs1337876122 307 Q>H No TOPMed
gnomAD
rs1209661528 308 A>V No TOPMed
rs769102693 312 E>* No ExAC
gnomAD
TCGA novel 312 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs769102693 312 E>K No ExAC
gnomAD
rs1587593431 314 E>K No Ensembl
rs1008461963 316 P>H No TOPMed
gnomAD
rs1008461963 316 P>L No TOPMed
gnomAD
rs1830139864 318 E>D No TOPMed
rs902255100 318 E>K No TOPMed
gnomAD
rs765746583 319 V>M No ExAC
gnomAD
rs1830140115 321 G>D No TOPMed
rs372755412 322 Q>E No ESP
ExAC
TOPMed
gnomAD
TCGA novel 324 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1224495085 324 E>K No gnomAD
rs377203976 327 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1198332444 329 C>R No gnomAD
rs138908686 329 C>Y No ESP
ExAC
TOPMed
gnomAD
COSM1137996
rs1830141311
 330 E>* Variant assessed as Somatic; HIGH impact. kidney [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs1299063356 332 K>E No TOPMed
gnomAD
TCGA novel 333 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1323853452 334 M>I No gnomAD
rs1587593528 334 M>R No TOPMed
rs1587593528 334 M>T No TOPMed
rs752450018 335 K>T No ExAC
TOPMed
gnomAD
rs141476659 337 D>N No ESP
ExAC
TOPMed
gnomAD
rs764020791 337 D>V No ExAC
gnomAD
rs141476659 337 D>Y No ESP
ExAC
TOPMed
gnomAD
rs757233483 338 A>T No ExAC
TOPMed
gnomAD
rs1260720464 338 A>V No TOPMed
gnomAD
rs1830143029 339 T>I No TOPMed
gnomAD
rs1431099974 340 T>I No TOPMed
gnomAD
rs1415048621 340 T>S No TOPMed
gnomAD
rs1564128223 341 H>P No TOPMed
gnomAD
COSM5079921
COSM1569280
 341 H>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs375780668 342 P>S No ESP
rs758572676 344 P>A No ExAC
TOPMed
gnomAD
rs1411729627 344 P>L No TOPMed
gnomAD
rs758572676 344 P>S No ExAC
TOPMed
gnomAD
COSM1187709
rs970871359
 347 V>L lung [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1830144852 348 L>V No TOPMed
rs1830145128 349 Q>R No TOPMed
TCGA novel 350 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs780217701 351 D>V No ExAC
gnomAD
rs768888400 352 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs747297369 352 H>Y No ExAC
gnomAD
rs781627556 353 F>C No ExAC
gnomAD
rs1232988447 353 F>I No gnomAD
rs760690824 356 P>T No ExAC
TOPMed
gnomAD
rs771751002 357 Q>P No ExAC
TOPMed
gnomAD
rs771751002 357 Q>R No ExAC
TOPMed
gnomAD
rs775281145 358 E>D No ExAC
TOPMed
gnomAD
COSM1108626 358 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs760437659 359 S>C No ExAC
rs1431170679 359 S>N No gnomAD
rs1389799891 360 F>L No gnomAD
rs760178960 360 F>V No ExAC
gnomAD
rs776241803 363 E>A No ExAC
gnomAD
rs761647836 363 E>D No ExAC
TOPMed
gnomAD
rs1830317744 363 E>K No TOPMed
rs765082339 365 A>P No ExAC
gnomAD
TCGA novel 365 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1375998424 366 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs750345797 366 S>P No ExAC
gnomAD
rs1830318632 367 S>L No gnomAD
rs762891742 368 P>S No ExAC
TOPMed
gnomAD
rs1433364246 370 T>I No gnomAD
rs766375749 372 A>D No ExAC
TOPMed
gnomAD
rs766375749 372 A>V No ExAC
TOPMed
gnomAD
rs781451074 374 A>V No ExAC
TOPMed
gnomAD
rs1830319621 377 I>V No TOPMed
rs752904612 378 R>* No ExAC
TOPMed
gnomAD
rs775394090 378 R>Q No ExAC
TOPMed
gnomAD
rs372189059 379 A>E No ESP
COSM4849362
COSM4849361
 383 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3657131
COSM3657130
rs992850032
 384 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs918562434 384 R>Q No TOPMed
rs762787107 385 L>F No ExAC
TOPMed
gnomAD
rs1830320872 386 Q>K No TOPMed
rs749759595 387 L>P No ExAC
gnomAD
COSM753526 389 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1833810721 391 P>A No Ensembl
COSM3926755
COSM3926756
 391 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs749057503 391 P>Q No ExAC
gnomAD
rs1272909050 394 G>A No gnomAD
rs1367135848 395 D>E No TOPMed
gnomAD
rs770750153 397 S>F No ExAC
TOPMed
gnomAD
rs1340072525 399 P>L No gnomAD
TCGA novel 400 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1204534677
COSM5998546
COSM5998547
 400 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1163153742 401 W>C No gnomAD
rs767579393 401 W>R No ExAC
TOPMed
gnomAD
rs147014808 402 L>V No ESP
ExAC
gnomAD
rs1486408597 403 P>L No gnomAD
TCGA novel 404 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel
rs2132182965
 405 G>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs764434090 405 G>E No ExAC
TOPMed
gnomAD
rs764434090 405 G>V No ExAC
TOPMed
gnomAD
rs1187354299 406 P>S No gnomAD
rs745755875 407 A>T No ExAC
gnomAD
rs775663236 408 G>R No ExAC
TOPMed
gnomAD
rs149350534 409 G>R No ESP
ExAC
TOPMed
gnomAD
COSM6115442
COSM6115441
 409 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs149350534 409 G>W No ESP
ExAC
TOPMed
gnomAD
COSM3657133
COSM3657132
 410 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs143686793 410 L>V No ESP
ExAC
TOPMed
gnomAD
rs1342902504 411 Y>C No TOPMed
gnomAD
rs1834036173 414 D>E No TOPMed
gnomAD
rs1834036386 415 S>N No Ensembl
TCGA novel 415 S>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs765570021 416 M>K No ExAC
gnomAD
rs765570021 416 M>T No ExAC
gnomAD
rs763467923 420 R>C No ExAC
TOPMed
gnomAD
rs1032722130 420 R>H No TOPMed
gnomAD
rs75322267 421 R>K No ExAC
gnomAD
rs756866010 424 P>A No ExAC
gnomAD
rs1834039121 424 P>Q No TOPMed
rs368072886 426 P>S No ESP
TOPMed
gnomAD
TCGA novel 427 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM5100189
COSM1462216
 428 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs778729417 428 V>I No ExAC
TOPMed
gnomAD
rs756885524 433 L>R No ExAC
TOPMed
gnomAD
rs753378150 433 L>V No ExAC
gnomAD
rs1834312872 434 V>F No TOPMed
gnomAD
rs1379565708 435 Q>H No TOPMed
gnomAD
rs750134155 437 R>Q No ExAC
gnomAD
COSM5158313
COSM1462217
rs376500028
 437 R>W Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1397244234 438 K>E No gnomAD
rs1834313912 438 K>T No TOPMed
rs1834314093 439 A>V No Ensembl
rs1409344900 440 G>E No TOPMed
gnomAD
rs758126746 440 G>R No ExAC
TOPMed
gnomAD
rs746873653 441 I>M No ExAC
gnomAD
rs780055670 441 I>S No ExAC
gnomAD
rs1834314999 442 T>A No Ensembl
rs2132214779 442 T>I No Ensembl
rs1834314999 442 T>P No Ensembl
rs748150499 445 M>I No ExAC
gnomAD
rs375685578 445 M>T No ESP
ExAC
TOPMed
gnomAD
COSM3996534
COSM3996535
rs754993902
 445 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
TCGA novel 446 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1834315851 446 A>V No TOPMed
gnomAD
rs769956101 448 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs773300549
COSM4752664
COSM1462218
 448 R>H liver Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749580027 449 T>I No ExAC
TOPMed
gnomAD
rs1834317108 451 L>I No gnomAD
rs1358395826 451 L>R No TOPMed
gnomAD
rs1834318116 454 E>G No TOPMed
rs768034621 454 E>K No ExAC
gnomAD
rs1269152563 455 E>Q No gnomAD
rs780450534 456 L>M No Ensembl
rs1186723563 457 K>I No gnomAD
rs1834380584 459 H>L No Ensembl
rs746210192 460 V>L No ExAC
TOPMed
gnomAD
rs746210192 460 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs191978661 461 Y>C No 1000Genomes
ExAC
rs1367299513 464 T>N No gnomAD
rs913695841 467 A>S No TOPMed
gnomAD
rs913695841 467 A>T No TOPMed
gnomAD
rs761306089 468 L>F No ExAC
gnomAD
rs1405622165 472 I>M No gnomAD
rs1564177355 472 I>V No Ensembl
COSM1108627
COSM5411036
rs762371782
 473 S>L Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs772807057 474 C>F No ExAC
gnomAD
rs1363755598 474 C>G No gnomAD
rs1029572590 476 T>N No TOPMed
rs1834385980 477 P>H No TOPMed
rs367581284
COSM3657134
COSM3657135
 477 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1268574001 478 H>N No gnomAD
rs1564177423 478 H>R No Ensembl
rs1268574001 478 H>Y No gnomAD
rs759401091 479 N>K No ExAC
gnomAD
rs1223611355 480 F>L No TOPMed
rs767476787 480 F>S No ExAC
gnomAD
rs1483614485 481 E>D No TOPMed
gnomAD
rs1267745602 481 E>Q No gnomAD
rs752517847 482 V>F No ExAC
TOPMed
gnomAD
rs752517847 482 V>I No ExAC
TOPMed
gnomAD
rs140172954 484 T>K No ESP
ExAC
TOPMed
gnomAD
rs140172954 484 T>M No ESP
ExAC
TOPMed
gnomAD
rs1587725066 484 T>P No Ensembl
rs140172954 484 T>R No ESP
ExAC
TOPMed
gnomAD
COSM5213417
COSM455898
rs542947932
 488 P>A Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1274299119 488 P>L No TOPMed
rs779079946 489 T>A No ExAC
TOPMed
gnomAD
rs779079946 489 T>P No ExAC
TOPMed
gnomAD
rs1156418611 490 Y>D No gnomAD
rs909710483 491 C>S No TOPMed
rs1399089610 491 C>Y No TOPMed
gnomAD
COSM6115440
COSM6115439
 492 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3848461
COSM3848462
 493 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1834391331 495 E>G No TOPMed
rs1834391142 495 E>K No TOPMed
rs1304131246 496 G>D No gnomAD
rs980530720 496 G>S No Ensembl
rs1304131246 496 G>V No gnomAD
rs1834392026 497 L>P No Ensembl
COSM1108629 498 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1834392502 498 L>H No TOPMed
rs2132221737 499 W>R No Ensembl
rs371711878 499 W>S No ESP
TOPMed
gnomAD
COSM346193
rs865802701
 500 G>D lung [Cosmic] No cosmic curated
Ensembl
rs994129317 500 G>R No TOPMed
gnomAD
rs994129317 500 G>S No TOPMed
gnomAD
rs1834393626 501 I>V No Ensembl
rs1226416423 502 A>V No gnomAD
rs777050093
COSM220372
 503 R>Q haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs138993835 503 R>W No ESP
ExAC
TOPMed
gnomAD
rs201925591 504 Q>* No 1000Genomes
ExAC
TOPMed
gnomAD
rs939024135 504 Q>R No TOPMed
rs374499101 505 G>R No ESP
ExAC
TOPMed
gnomAD
rs759274444 506 M>I No ExAC
gnomAD
rs756677044 507 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs752569888 507 R>H No ExAC
TOPMed
gnomAD
rs1218430813 509 S>N No TOPMed
rs571328752 509 S>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs368769067 510 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1375384535 511 C>G No TOPMed
gnomAD
rs1375384535 511 C>R No TOPMed
gnomAD
rs1284109164 513 V>D No TOPMed
rs376050341 513 V>I No ESP
ExAC
TOPMed
gnomAD
rs1834398022 518 K>N No TOPMed
gnomAD
rs2132222173 518 K>R No Ensembl
rs372407646 519 C>F No ESP
TOPMed
gnomAD
rs1372391324 520 Q>E No gnomAD
rs750588747 521 D>Y No ExAC
TOPMed
gnomAD
rs1564177747 523 L>F No Ensembl
rs200739160 524 N>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs200739160 524 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs149889294 526 D>E No ESP
ExAC
TOPMed
gnomAD
rs1347159812 527 C>F No TOPMed
gnomAD
rs1834400152 527 C>R No Ensembl
rs1347159812 527 C>Y No TOPMed
gnomAD
rs747375169 530 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs775204133 532 A>S No ExAC
gnomAD
rs746701405 533 E>Q No ExAC
TOPMed
gnomAD
rs908884467 535 S>T No Ensembl
rs768444404 536 C>Y No ExAC
TOPMed
gnomAD
rs61753426 538 H>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761702116 538 H>Y No ExAC
gnomAD
rs1285284997 539 G>R No gnomAD
COSM1462219
COSM5167251
 540 A>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs773171988 540 A>T No ExAC
TOPMed
gnomAD
rs1166702636 540 A>V No TOPMed
gnomAD
rs1834502099 541 E>G No gnomAD
rs1055039537 541 E>K No TOPMed
rs763080241 542 D>N No ExAC
TOPMed
gnomAD
rs766423478 542 D>V No ExAC
TOPMed
gnomAD
rs763080241 542 D>Y No ExAC
TOPMed
gnomAD
rs751746355 543 R>Q No ExAC
TOPMed
gnomAD
COSM3907112
COSM3907111
rs1330269747
 543 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1834504691 545 Q>E No TOPMed
rs974999118 545 Q>R No TOPMed
gnomAD
rs755159093 547 I>T No ExAC
TOPMed
gnomAD
rs1834505147 549 M>T No TOPMed
rs1834505404 550 A>T No TOPMed
rs1191922774 551 M>I No gnomAD
rs767951381 551 M>V No ExAC
gnomAD
rs922184878 552 K>E No gnomAD
COSM1581896
rs371483220
 554 R>C haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs200053468 554 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs200053468 554 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs371483220
COSM608616
 554 R>S lung [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs749828619 557 I>V No ExAC
gnomAD
rs374967761 558 R>* No ESP
ExAC
TOPMed
gnomAD
COSM753525
rs142442316
 558 R>L lung [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs142442316 558 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs368840993 559 E>G No ESP
ExAC
TOPMed
gnomAD
COSM186330
rs575353228
 560 R>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1581897
rs747904316
 560 R>Q haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
ExAC
gnomAD
rs1834509298 561 N>I No TOPMed
rs1834509503 562 K>N No Ensembl
rs769640460 563 P>S No ExAC
gnomAD
rs1289821689 564 E>D No TOPMed
gnomAD
rs1348161755 568 V>F No gnomAD
rs773116964 569 I>F No ExAC
TOPMed
gnomAD
rs770976126 570 R>P No ExAC
TOPMed
gnomAD
rs770976126 570 R>Q No ExAC
TOPMed
gnomAD
rs762811189 570 R>W No ExAC
TOPMed
gnomAD
rs1208573152 572 V>I No TOPMed
gnomAD
rs759752944 574 T>A No ExAC
gnomAD
rs376261047 576 N>I No ESP
ExAC
TOPMed
gnomAD
rs376261047 576 N>S No ESP
ExAC
TOPMed
gnomAD
rs370039649 577 K>E No ESP
TOPMed
gnomAD
rs373528248 577 K>I No ESP
ExAC
gnomAD
rs373528248 577 K>R No ESP
ExAC
gnomAD
rs1834514190 578 A>S No TOPMed
rs560973072 580 H>R No 1000Genomes
ExAC
gnomAD
rs1480259067 582 Q>* No TOPMed
gnomAD
rs1013472527 583 Q>H No gnomAD
rs1412040899 583 Q>R No gnomAD
rs1834516624 584 M>T No TOPMed
rs1834517068 587 V>G No TOPMed
rs151329492 587 V>L No 1000Genomes
rs1834517288 589 Q>H No Ensembl
rs751057461 590 S>N No ExAC
TOPMed
gnomAD
rs754519763 590 S>R No ExAC
TOPMed
gnomAD
rs751057461 590 S>T No ExAC
TOPMed
gnomAD
rs2132231631 592 L>P No Ensembl
COSM4821114
COSM4821115
 593 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2132231647 594 G>D No Ensembl
rs1834518772 595 T>A No gnomAD
rs780816082 595 T>I No ExAC
gnomAD
rs780816082 595 T>N No ExAC
gnomAD
TCGA novel 596 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1242175873 598 W>* No gnomAD
rs769517086 598 W>C No ExAC
gnomAD
rs1834520290 601 K>E No TOPMed
gnomAD
rs777434738 602 I>V No ExAC
TOPMed
gnomAD
rs1834521274 604 I>V No Ensembl
rs560836312 607 V>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs1165416361 607 V>M No TOPMed
gnomAD
rs1262752126 611 G>S No TOPMed
rs1564180112 611 G>V No Ensembl
rs1834580489 612 L>V No TOPMed
rs769025672 613 Q>* No ExAC
gnomAD
rs1365199716 616 D>V No TOPMed
gnomAD
rs776963495 618 T>I No ExAC
gnomAD
rs776963495 618 T>R No ExAC
gnomAD
rs762077190 619 G>V No ExAC
TOPMed
gnomAD
rs765689076 620 S>F No ExAC
gnomAD
rs1275272040 620 S>T No TOPMed
rs1245208495 621 S>N No gnomAD
rs2132236314 623 P>L No Ensembl
rs1834583674 624 Y>H No gnomAD
rs1037516021 625 V>M No TOPMed
COSM1108631 626 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763452316 626 T>S No ExAC
rs1466308202 628 Q>P No gnomAD
rs1261617758 630 S>N No gnomAD
rs1404852318 631 K>T No TOPMed
gnomAD
rs1834586322 633 K>R No gnomAD
rs201487370 634 K>R No ESP
ExAC
TOPMed
gnomAD
rs763622459 635 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs753594578
COSM1231754
 635 R>H large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
COSM3907113
COSM3907114
 636 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1453750235 637 K>E No gnomAD
rs995890927 639 I>V No TOPMed
gnomAD
rs1286652792 640 F>S No TOPMed
gnomAD
rs1834588913 642 N>D No TOPMed
rs55720245 642 N>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 642 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1449375772 646 V>A No TOPMed
gnomAD
TCGA novel 648 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1834590016 648 E>K No TOPMed
rs778784397 649 E>A No ExAC
TOPMed
gnomAD
rs745736241 651 F>S No ExAC
gnomAD
rs374284179 652 H>Y No ESP
ExAC
TOPMed
gnomAD
TCGA novel 653 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs770076367 654 E>K No ExAC
gnomAD
TCGA novel 655 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs267602222 655 C>G No ExAC
gnomAD
rs1834750567 655 C>Y No TOPMed
rs1834750782 657 N>T No Ensembl
rs867537099 658 S>F No Ensembl
rs371965791 661 R>C No ESP
ExAC
TOPMed
gnomAD
rs371965791 661 R>G No ESP
ExAC
TOPMed
gnomAD
rs754392163 661 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs754392163 661 R>P No TOPMed
gnomAD
rs954272211 662 I>S No TOPMed
gnomAD
COSM1108632
rs774827252
COSM3907117
 665 R>C Variant assessed as Somatic; MODERATE impact. large_intestine endometrium stomach [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774827252 665 R>G No ExAC
TOPMed
gnomAD
rs202163094 665 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774827252 665 R>S No ExAC
TOPMed
gnomAD
rs1674688087 666 V>I No TOPMed
rs1674688087 666 V>L No TOPMed
rs1834753305 668 D>N No TOPMed
COSM4007181
COSM1756155
 671 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs977266218 673 I>L No Ensembl
rs764965489 673 I>M No ExAC
gnomAD
rs1370383322 674 K>R No TOPMed
gnomAD
rs2132250864 675 S>* No Ensembl
rs61732426 675 S>A No ESP
ExAC
TOPMed
gnomAD
rs1275737157 677 V>I No gnomAD
rs1204344955 678 K>E No TOPMed
gnomAD
TCGA novel 679 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1744689
rs1488629237
 680 R>C biliary_tract [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1195130683 680 R>H No TOPMed
gnomAD
rs140439964 683 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1564182519 684 E>D No Ensembl
rs1189126558 685 S>P No TOPMed
gnomAD
rs1189126558 685 S>T No TOPMed
gnomAD
rs754971809 686 D>A No ExAC
gnomAD
TCGA novel 689 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs781082830 692 T>I No ExAC
gnomAD
rs1350276599 693 I>M No gnomAD
rs752798381 693 I>V No ExAC
TOPMed
gnomAD
rs756188015 694 I>T No ExAC
TOPMed
gnomAD
rs757745727 695 E>D No Ensembl
rs777965576 696 V>F No ExAC
TOPMed
gnomAD
rs777965576 696 V>I No ExAC
TOPMed
gnomAD
rs144007866 697 R>Q No ESP
ExAC
TOPMed
gnomAD
rs749570998 697 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1834759922 698 T>A No Ensembl
rs1456419229 698 T>I No TOPMed
gnomAD
rs1834760343 699 L>V No TOPMed
gnomAD
rs1834760843 700 S>N No TOPMed
rs893774300 701 G>D No Ensembl
rs1360536303 701 G>S No gnomAD
COSM3907118
COSM3907119
rs746321396
 702 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1834761631 704 D>N No TOPMed
COSM248208
rs138199360
 705 V>I Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1564182707 706 W>* No Ensembl
rs775913950 706 W>R No ExAC
gnomAD
rs1279732060 708 N>S No TOPMed
gnomAD
rs1834800877 710 E>G No Ensembl
rs779201025 711 K>E No ExAC
TOPMed
gnomAD
rs142888810
COSM397384
 712 R>K lung [Cosmic] No cosmic curated
ESP
TOPMed
rs142888810 712 R>T No ESP
TOPMed
rs746224059 713 T>A No ExAC
gnomAD
rs145062713 713 T>R No ESP
ExAC
TOPMed
gnomAD
COSM3907121
COSM3907120
 714 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs780609481 716 S>P No ExAC
gnomAD
COSM3926758
COSM3926757
 717 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs549328472 718 V>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs1834803786
TCGA novel
 721 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs748897178 721 A>V No ExAC
gnomAD
rs1834804234 722 I>V No TOPMed
rs1405792078 723 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1177426354 724 L>I No gnomAD
rs1377843954 724 L>Q No gnomAD
rs989606176 725 Q>H No Ensembl
rs1324096170 726 I>V No TOPMed
rs376863483 729 E>G No ESP
TOPMed
gnomAD
rs2132254856 733 E>A No Ensembl
rs1564183401 736 V>L No Ensembl
rs773913568 737 A>G No ExAC
TOPMed
gnomAD
rs773913568 737 A>V No ExAC
TOPMed
gnomAD
rs969884708 738 P>S No TOPMed
gnomAD
rs759370985 739 Y>H No ExAC
rs915313211 740 H>R No Ensembl
rs1351522091 740 H>Y No gnomAD
rs368700689
COSM5005140
COSM5005139
 741 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760610803 742 Q>E No ExAC
gnomAD
TCGA novel 744 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs764120863 745 C>R No ExAC
gnomAD
rs959955117 748 E>Q No TOPMed
rs776593147 750 L>F No ExAC
TOPMed
gnomAD
rs765295713 752 H>Q No ExAC
TOPMed
gnomAD
rs761880295 752 H>R No ExAC
gnomAD
rs750588825 754 L>H No ExAC
TOPMed
gnomAD
rs968615917 756 D>Y No TOPMed
gnomAD
rs188569841 757 I>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs978528194 757 I>N No TOPMed
gnomAD
rs978528194 757 I>T No TOPMed
gnomAD
rs138938539 759 G>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1834841044 760 S>G No TOPMed
rs911067546 760 S>I No TOPMed
gnomAD
rs911067546 760 S>N No TOPMed
gnomAD
rs755433104 761 G>E No ExAC
gnomAD
rs1166565352 762 G>R No gnomAD
rs56201405 763 V>G No Ensembl
COSM5142950
COSM5142949
rs142152806
 764 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753313955 764 R>H No ExAC
TOPMed
gnomAD
rs753313955 764 R>P No ExAC
TOPMed
gnomAD
rs1475070503 765 I>N No TOPMed
gnomAD
TCGA novel 766 P>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1395957432 769 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs200090482 769 R>Q No ESP
ExAC
TOPMed
gnomAD
rs367600670 770 G>A No ESP
ExAC
TOPMed
gnomAD
rs1327006983 771 D>N No gnomAD
rs779807142 772 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs146391020 773 A>T No ESP
ExAC
TOPMed
gnomAD
rs929866104 775 K>R No Ensembl
rs1587737226 776 V>G No Ensembl
rs1214492011 776 V>M No TOPMed
gnomAD
rs1834846335 780 E>* No TOPMed
rs1263013500 780 E>G No TOPMed
gnomAD
rs1191700046 783 Q>K No gnomAD
rs527934887 784 E>K No 1000Genomes
ExAC
gnomAD
rs773183539 785 I>T No ExAC
gnomAD
rs1834847877 787 D>G No Ensembl
TCGA novel 788 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs763139148 790 A>S No ExAC
gnomAD
rs1046771052 791 M>I No TOPMed
rs766476922 791 M>V No ExAC
TOPMed
gnomAD
COSM1108634
rs751894353
 792 R>C Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1462220
rs541221911
COSM4374098
 792 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3664326
COSM1624940
 793 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1834849306
COSM1462221
 793 Y>H large_intestine [Cosmic] No cosmic curated
Ensembl
rs1385093849 795 I>T No TOPMed
gnomAD
rs1834849730 795 I>V No Ensembl
rs942472095 797 S>F No TOPMed
rs942472095 797 S>Y No TOPMed
rs753188025 798 I>M No ExAC
TOPMed
gnomAD
rs768006513 798 I>V No ExAC
TOPMed
gnomAD
rs756611040 799 Y>N No ExAC
gnomAD
rs778438927 800 Q>R No ExAC
TOPMed
gnomAD
TCGA novel 801 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs749879925 803 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM4876687
COSM4876688
 804 H>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1834904649 804 H>N No gnomAD
rs372457478 804 H>Q No ESP
ExAC
TOPMed
gnomAD
rs1394179963 804 H>R No Ensembl
rs1250880019 805 F>S No gnomAD
rs746628927 806 A>E No Ensembl
rs751150501 806 A>P No ExAC
gnomAD
rs868445977 807 C>Y No TOPMed
rs1834906578 808 L>S No TOPMed
gnomAD
rs1175440428 812 Y>C No gnomAD
rs77118641 813 M>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs756001226 813 M>L No ExAC
TOPMed
gnomAD
rs77118641 813 M>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs756001226 813 M>V No ExAC
TOPMed
gnomAD
rs774604013 815 P>L No ExAC
gnomAD
rs746038695 816 G>D No ExAC
TOPMed
gnomAD
rs1834908263 816 G>R No TOPMed
rs1389915643 817 V>M No gnomAD
rs933732940 818 P>S No TOPMed
gnomAD
rs1370540832 820 V>M No TOPMed
rs1323587181 822 S>T No TOPMed
gnomAD
COSM4905416
COSM4905415
 823 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs375773142 823 T>N No ESP
ExAC
TOPMed
gnomAD
rs1587738802 823 T>P No Ensembl
rs764579886 824 L>* No ExAC
TOPMed
gnomAD
rs764579886 824 L>S No ExAC
TOPMed
gnomAD
rs776948128 828 I>M No ExAC
TOPMed
gnomAD
rs1158277351 828 I>S No TOPMed
gnomAD
rs1834911229 829 N>S No gnomAD
rs765822778 830 A>T No ExAC
gnomAD
COSM3907124
COSM3907125
rs1834911836
 830 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1454340187 831 Y>* No TOPMed
gnomAD
rs751042543 831 Y>C No ExAC
TOPMed
gnomAD
rs76917191 833 A>P No Ensembl
rs867064063 833 A>V No Ensembl
rs945453063 835 T>A No TOPMed
rs1587738925 836 T>P No Ensembl
rs1044006835 836 T>S No TOPMed
gnomAD
rs1043826784 837 A>P No TOPMed
gnomAD
rs200818602 840 N>K No ExAC
TOPMed
gnomAD
rs541630756 840 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs541630756 840 N>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs755806612 841 V>A No ExAC
TOPMed
gnomAD
rs201644197 842 S>A No ESP
ExAC
TOPMed
gnomAD
rs1395294388 844 S>F No gnomAD
rs779042786 844 S>P No ExAC
gnomAD
rs1443284844 846 R>C No gnomAD
rs745913691 846 R>H No ExAC
TOPMed
gnomAD
rs745913691 846 R>P No ExAC
TOPMed
gnomAD
rs1215690093 850 S>P No gnomAD
COSM3907126
rs938252783
COSM3907127
 851 N>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs1834917630 853 G>A No TOPMed
rs1298133093 853 G>R No TOPMed
gnomAD
rs770212680 854 K>* No ExAC
gnomAD
rs770212680 854 K>E No ExAC
gnomAD
rs1835040902 855 E>D No TOPMed
rs1034784713 855 E>K No TOPMed
rs1835041336 858 V>I No Ensembl
rs959302036 860 L>P No TOPMed
rs773644789 865 H>Q No ExAC
gnomAD
rs1835042672 867 S>L No Ensembl
rs1406158699 867 S>T No TOPMed
TCGA novel 868 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs771435392 869 R>K No ExAC
TOPMed
gnomAD
rs1564186737 870 I>N No Ensembl
rs1004566313 870 I>V No Ensembl
rs760142420 871 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs763778650 872 L>V No ExAC
gnomAD
rs773168664 877 N>S No ExAC
gnomAD
rs952378056 878 N>D No TOPMed
rs1554713830 878 N>S No Ensembl
rs112463632 879 F>L No Ensembl
rs762692197 880 P>A No ExAC
TOPMed
gnomAD
rs1397474476 880 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs762692197 880 P>S No ExAC
TOPMed
gnomAD
rs1037446397 882 G>W No TOPMed
gnomAD
rs1469993317 885 E>V No TOPMed
gnomAD
rs751521575
COSM1674472
 886 R>Q kidney [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs766330600 886 R>W No ExAC
gnomAD
rs201421861 887 L>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs1410116145 888 Q>R No gnomAD
rs1835147643 889 D>G No TOPMed
rs1835147643 889 D>V No TOPMed
rs1397483389 893 T>A No gnomAD
rs991783765 894 V>M No TOPMed
gnomAD
rs1326457551 897 L>P No gnomAD
rs1184689839 898 T>A No TOPMed
rs778011122 899 S>C No ExAC
gnomAD
rs539192709 899 S>R No 1000Genomes
ExAC
gnomAD
rs1339849163 901 T>I No gnomAD
COSM753524 905 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 905 M>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1216538742 906 K>R No gnomAD
rs1587746922 907 V>G No Ensembl
rs1192009538 911 Q>E No gnomAD
rs1262943361 911 Q>L No gnomAD
rs777504510 912 S>N No ExAC
TOPMed
gnomAD
rs1835177981 913 P>A No TOPMed
gnomAD
COSM3907128
COSM3907129
 913 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs928770990 914 P>L No Ensembl
rs1165197704 914 P>S No gnomAD
rs1564188555 916 A>T No Ensembl
rs1835179493 917 S>N No TOPMed
COSM1108636 922 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs940141192 923 C>S No TOPMed
gnomAD
rs748908897 924 V>M No ExAC
TOPMed
gnomAD
rs1835180366 925 K>E No Ensembl
rs1835180571 926 A>P No TOPMed
COSM73200 926 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770712278 927 C>Y No ExAC
gnomAD
TCGA novel 928 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs774046578 929 N>T No ExAC
gnomAD
COSM422382 930 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs771974644 931 T>I No ExAC
TOPMed
gnomAD
rs1835182104 932 Y>C No Ensembl
rs764161830 932 Y>H No ExAC
gnomAD
rs747374598 934 Y>* No ExAC
rs761960897 940 H>Q No ExAC
gnomAD
rs1835183152 940 H>R No TOPMed
rs765594370 941 D>N No ExAC
TCGA novel 942 L>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs750719663 942 L>F No ExAC
TOPMed
gnomAD
rs758878201 943 Y>H No ExAC
TOPMed
gnomAD
rs752121019 944 S>T No ExAC
gnomAD
rs201000360 945 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs777451159 945 R>H No ExAC
TOPMed
gnomAD
rs748932310 946 Q>R No ExAC
TOPMed
gnomAD
rs770460480 947 Y>D No ExAC
TOPMed
gnomAD
rs770460480 947 Y>H No ExAC
TOPMed
gnomAD
rs778676265 948 Q>R No ExAC
gnomAD
rs1363910574 949 L>R No gnomAD
rs752065962 953 L>V No ExAC
TOPMed
gnomAD
rs755575300 954 P>S No ExAC
gnomAD
rs1835419419 955 P>A No TOPMed
rs753266169 955 P>L No ExAC
gnomAD
rs1221468262 958 Q>H No gnomAD
rs1835420370 959 G>V No Ensembl
TCGA novel 960 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1835420569 962 I>F No TOPMed
rs147799499
COSM218989
COSM4389355
 963 R>Q Variant assessed as Somatic; MODERATE impact. pancreas large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758129805
COSM4485039
COSM4485038
 963 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746905473 968 W>G No ExAC
gnomAD
rs571556968 969 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1835422005 970 K>E No TOPMed
rs139620196 970 K>R No ESP
ExAC
TOPMed
gnomAD
rs1564191146 972 I>L No Ensembl
TCGA novel 972 I>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs769925398 972 I>T No ExAC
gnomAD
rs1835423473 973 T>A No TOPMed
gnomAD
rs763292738 973 T>I No ExAC
TOPMed
gnomAD
rs1835423854 974 L>F No TOPMed
rs774826815 976 V>M No ExAC
TOPMed
gnomAD
rs1170009780 977 S>L No TOPMed
gnomAD
rs760029232 979 I>M No ExAC
gnomAD
rs145265358 980 E>G No ESP
ExAC
gnomAD
rs753313931 982 D>G No ExAC
gnomAD
rs1370997379 982 D>Y No TOPMed
gnomAD
TCGA novel 983 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs190693606
COSM1108637
 983 K>N endometrium [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs764817161 985 S>F No ExAC
TOPMed
gnomAD
rs1319494357 985 S>P No gnomAD
rs1323423577 987 T>I No Ensembl
rs758486344 988 P>T No Ensembl
rs1835427751 991 N>S No TOPMed
rs375286155 992 Q>H No ESP
ExAC
TOPMed
gnomAD
rs1835473480 994 P>T No Ensembl
rs1587756607 995 Q>R No Ensembl
rs1009698364 996 E>* No TOPMed
rs1564191743 996 E>D No Ensembl
rs1009698364 996 E>K No TOPMed
rs775802001 997 L>W No ExAC
gnomAD
rs761265259 999 V>M No ExAC
gnomAD
rs777929195 1001 K>R No Ensembl
rs764610901 1003 S>I No ExAC
gnomAD
rs764610901 1003 S>T No ExAC
gnomAD
rs762495942 1004 A>T No ExAC
TOPMed
gnomAD
rs1419549783 1004 A>V No gnomAD
rs896757310 1005 E>D No TOPMed
gnomAD
rs1835475876 1006 V>M No TOPMed
rs1835476067 1007 M>T No Ensembl
rs201180685 1009 H>R No ESP
ExAC
TOPMed
gnomAD
rs751275456 1010 L>F No ExAC
gnomAD
TCGA novel 1012 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1013 Q>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs754675410 1013 Q>R No ExAC
TOPMed
gnomAD
COSM3657139
COSM3657138
 1014 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1311461435 1015 M>I No TOPMed
gnomAD
rs1240774550 1015 M>V No TOPMed
gnomAD
rs1351197887 1017 Y>C No TOPMed
gnomAD
rs1351197887 1017 Y>F No TOPMed
gnomAD
rs1564191857 1020 E>Q No Ensembl
rs1835478386 1020 E>RGDA* No Ensembl
rs759268832
COSM5076761
COSM1569279
 1021 E>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs759268832 1021 E>D No ExAC
gnomAD
rs369670031 1022 H>Q No ESP
ExAC
TOPMed
gnomAD
rs17849220 1022 H>R No ExAC
TOPMed
gnomAD
TCGA novel 1022 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs755921880 1023 E>K No ExAC
gnomAD
rs2132346884 1025 D>A No Ensembl
rs777849648 1025 D>H No ExAC
gnomAD
rs1324191467 1028 C>R No gnomAD
rs1835885970 1028 C>Y No gnomAD
rs1434079366 1030 S>R No TOPMed
gnomAD
rs149118832 1030 S>T No ESP
ExAC
TOPMed
gnomAD
rs1276738074 1031 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1835886560 1033 Y>C No Ensembl
rs371473723 1034 M>I No ESP
ExAC
TOPMed
gnomAD
rs1835886727 1034 M>V No Ensembl
rs918241456 1035 N>K No TOPMed
gnomAD
rs746035119 1036 L>M No ExAC
gnomAD
rs1256174385 1038 F>L No TOPMed
gnomAD
rs772304671 1039 K>E No ExAC
gnomAD
rs1379525122 1043 L>F No Ensembl
rs1835888387 1045 N>H No gnomAD
rs747383622 1045 N>S No ExAC
TOPMed
gnomAD
rs777051872
COSM3413641
COSM3413640
 1047 Y>* central_nervous_system [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1441997101 1047 Y>D No TOPMed
gnomAD
rs374962956 1048 V>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374962956 1048 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs942887031 1049 R>Q No TOPMed
gnomAD
COSM1108638
rs151027172
 1049 R>W endometrium [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1407284268 1050 D>H No Ensembl
rs1835890621 1053 V>A No gnomAD
rs767186732 1055 Q>L No ExAC
rs767186732 1055 Q>R No ExAC
rs145029937 1056 G>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM487418 1056 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs753779014 1057 Q>* No ExAC
TOPMed
gnomAD
rs1403555961 1057 Q>P No gnomAD
TCGA novel 1057 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1587770546 1058 V>G No Ensembl
rs1231118699 1059 P>S No TOPMed
gnomAD
rs1231118699 1059 P>T No TOPMed
gnomAD
rs1176383206 1060 E>A No TOPMed
gnomAD
rs1835893191 1061 Y>S No gnomAD
COSM1462222
rs138905819
COSM5141621
 1063 A>V Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1587771221 1064 W>G No Ensembl
rs1587771229 1065 F>V No Ensembl
rs1310712168 1066 E>K No TOPMed
gnomAD
TCGA novel 1067 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs927212035 1068 F>L No TOPMed
gnomAD
rs140663072 1069 V>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3907133
rs140663072
COSM3907132
 1069 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1070 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs766380400 1071 Q>* No ExAC
gnomAD
rs766380400 1071 Q>E No ExAC
gnomAD
rs1835914785
COSM3952692
COSM3952691
 1071 Q>R lung [Cosmic] No cosmic curated
TOPMed
rs1182883043 1072 W>* No gnomAD
rs1355793643 1072 W>R No TOPMed
rs1441494011 1074 D>G No gnomAD
rs781447107 1075 E>A No ExAC
gnomAD
TCGA novel 1075 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1835916239 1076 N>H No TOPMed
TCGA novel 1079 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1564196565 1079 V>E No Ensembl
rs756538356 1079 V>L No ExAC
TOPMed
gnomAD
rs1835917445 1081 L>R No TOPMed
rs1835917834 1082 E>K No Ensembl
rs1304372030 1083 F>L No Ensembl
COSM1462223
COSM4374123
rs534059326
 1085 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs138319899 1085 R>H No ESP
ExAC
TOPMed
gnomAD
rs138319899 1085 R>L No ESP
ExAC
TOPMed
gnomAD
rs1445256842 1086 G>R No gnomAD
TCGA novel 1086 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1308913468 1087 A>G No gnomAD
rs1165802721 1087 A>T No gnomAD
COSM5455781
rs756943841
COSM5455780
 1090 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776483798 1090 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1182537984 1091 D>V No TOPMed
rs1564196670 1092 K>E No Ensembl
rs1564196681 1092 K>N No Ensembl
rs149632058 1094 D>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2132351834 1096 F>L No Ensembl
rs41276043
RCV000961056
 1096 F>L No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1488671746 1097 Q>H No gnomAD
rs1192659484 1101 E>D No gnomAD
rs749919081 1102 H>R No ExAC
TOPMed
gnomAD
rs767598519 1103 A>T No ExAC
gnomAD
rs1194728851 1103 A>V No gnomAD
rs202128839
COSM307658
 1104 L>V kidney [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
rs1425869399 1108 S>C No gnomAD
rs1835940807 1108 S>P No TOPMed
rs1464171528 1109 V>L No gnomAD
rs1835941399 1110 V>G No TOPMed
gnomAD
rs2132352137 1112 V>A No Ensembl
rs1198818032 1113 F>L No TOPMed
gnomAD
rs1449889358 1114 T>I No TOPMed
gnomAD
rs760840077 1115 Q>H No ExAC
TOPMed
gnomAD
rs1210595577 1116 L>F No TOPMed
gnomAD
rs370999495 1117 N>S No ESP
ExAC
TOPMed
gnomAD
rs1041591502 1118 Q>H No TOPMed
rs1459928164 1119 S>C No gnomAD
rs1835943129 1119 S>R No TOPMed
rs1835943404 1120 F>L No gnomAD
COSM753523 1121 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs757698118 1123 I>L No ExAC
TOPMed
gnomAD
rs757698118 1123 I>V No ExAC
TOPMed
gnomAD
rs55744473 1124 R>Q No ESP
ExAC
TOPMed
gnomAD
rs779283157 1124 R>W No ExAC
TOPMed
gnomAD
rs1294258015 1127 E>* No gnomAD
rs1835945386 1129 P>L No Ensembl
rs780869715 1132 S>I No ExAC
gnomAD
rs1332258525 1133 I>V No TOPMed
gnomAD
rs1784389023 1136 H>L No TOPMed
gnomAD
rs1381298079 1136 H>Q No TOPMed
gnomAD
rs370745816 1137 Y>C No ESP
TOPMed
gnomAD
rs1318927673 1138 M>I No TOPMed
gnomAD
rs747760125 1138 M>K No ExAC
TOPMed
gnomAD
rs1835946847 1138 M>L No TOPMed
rs747760125 1138 M>R No ExAC
TOPMed
gnomAD
rs747760125 1138 M>T No ExAC
TOPMed
gnomAD
rs755589991 1139 R>K No Ensembl
rs565966274 1140 R>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1005236662 1141 F>C No gnomAD
rs777542703 1142 A>V No ExAC
gnomAD
TCGA novel 1144 T>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs1835972910 1144 T>I No Ensembl
rs1835973394 1145 I>T No gnomAD
rs2132354875 1145 I>V No Ensembl
rs1161209278 1146 G>A No TOPMed
gnomAD
rs767045154 1146 G>R No ExAC
gnomAD
rs752138036 1148 V>A No ExAC
gnomAD
rs1449646237 1150 M>I No gnomAD
rs2132355010 1150 M>L No Ensembl
COSM5738590
COSM5738589
 1151 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs138607361 1151 Q>R No ESP
ExAC
TOPMed
gnomAD
rs1381900732 1152 Y>H No gnomAD
rs1311111388 1155 I>T No gnomAD
rs1835976588 1157 S>P No TOPMed
rs1046457104 1159 D>Y No Ensembl
rs1181280817 1160 F>V No Ensembl
rs1835977766 1161 P>Q No Ensembl
rs748983619 1161 P>T No ExAC
TOPMed
gnomAD
rs1253332330 1162 A>D No TOPMed
gnomAD
rs756954134 1163 Y>C No ExAC
TOPMed
gnomAD
rs1835978459 1164 C>G No TOPMed
rs1835978889 1167 E>* No Ensembl
rs1320713998 1169 L>V No TOPMed
rs1196916998 1170 P>A No TOPMed
gnomAD
rs1254528521 1171 C>Y No TOPMed
gnomAD
rs917907119 1173 L>P No TOPMed
gnomAD
rs369168037 1174 M>I No ESP
ExAC
gnomAD
rs1486321422 1174 M>V No TOPMed
gnomAD
rs1055321994 1176 N>D No Ensembl
rs746974980 1177 V>M No ExAC
TOPMed
gnomAD
rs1484139490 1181 R>M No TOPMed
gnomAD
rs1836018946 1182 V>I No Ensembl
rs1403319956 1185 E>D No gnomAD
rs1252068585 1185 E>G No TOPMed
gnomAD
rs1319638277 1187 M>I No TOPMed
gnomAD
rs202145715 1187 M>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1108639 1189 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770130166 1190 A>T No ExAC
TOPMed
gnomAD
rs1220495451 1190 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1564198169 1191 M>L No Ensembl
COSM753521
rs773639167
 1195 E>K lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1157522080 1195 E>V No gnomAD
rs1413783727 1196 L>M No gnomAD
rs1025016080 1197 D>E No TOPMed
gnomAD
rs760120913 1197 D>Y No ExAC
gnomAD
rs1836045702 1199 E>Q No gnomAD
rs767950504 1200 A>T No ExAC
gnomAD
rs1836046645 1202 D>V No gnomAD
rs1357718814 1202 D>Y No gnomAD
rs201084997 1203 S>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1431623830 1208 Q>L No TOPMed
gnomAD
rs1587775467 1209 V>G No Ensembl
rs758131689 1211 L>P No ExAC
gnomAD
rs139605689 1213 T>M No ESP
ExAC
TOPMed
gnomAD
rs41315995 1214 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2132361817 1216 D>E No Ensembl
TCGA novel 1217 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1836051000 1217 E>D No TOPMed
rs1836050452 1217 E>K No Ensembl
rs377673433 1218 L>F No ESP
TOPMed
gnomAD
rs920154335 1220 M>I No TOPMed
gnomAD
rs370611811 1220 M>V No ESP
ExAC
TOPMed
gnomAD
rs1332347054 1222 F>S No TOPMed
rs139577182 1223 G>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1433919367 1225 S>N No gnomAD
rs757480841 1225 S>R No ExAC
gnomAD
rs533204933 1226 F>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs1340416477 1226 F>L No TOPMed
gnomAD
rs533204933 1226 F>Y No 1000Genomes
ExAC
TOPMed
gnomAD
rs371882456 1228 V>I No 1000Genomes
TOPMed
rs371882456 1228 V>L No 1000Genomes
TOPMed
rs199650122 1229 R>P No ESP
ExAC
TOPMed
gnomAD
rs199650122 1229 R>Q No ESP
ExAC
TOPMed
gnomAD
rs371128685 1229 R>W No ESP
ExAC
TOPMed
gnomAD
rs1016251860 1230 I>T No TOPMed
gnomAD
rs775917272 1231 D>E No ExAC
rs12339582
VAR_037274
 1232 E>D No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1258691424 1232 E>G No TOPMed
gnomAD
rs1193814651 1233 C>R No gnomAD
rs1836076022 1233 C>Y No Ensembl
COSM1701067
rs1433926078
 1235 R>* skin [Cosmic] No cosmic curated
TOPMed
gnomAD
rs199730829 1235 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs1836077086 1236 Q>* No gnomAD
rs1836077856 1237 M>I No TOPMed
rs368472596 1237 M>T No ESP
ExAC
TOPMed
gnomAD
rs535567140 1237 M>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1836078104 1238 A>D No gnomAD
rs1836078905 1239 D>G No TOPMed
rs199656978 1239 D>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1836079143 1240 I>F No Ensembl
rs767242483 1241 L>P No ExAC
TOPMed
gnomAD
rs1391975188 1242 G>R No TOPMed
gnomAD
rs1391975188 1242 G>S No TOPMed
gnomAD
rs1042601072 1243 Q>H No TOPMed
gnomAD
rs1836080682 1244 V>I No TOPMed
rs201839806 1245 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs1554716190 1245 R>W No TOPMed
rs756088760 1246 G>D No ExAC
gnomAD
rs781349383 1247 T>R No ExAC
gnomAD
rs936770118 1248 G>E No TOPMed
TCGA novel 1248 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs753955931 1249 N>D No ExAC
gnomAD
rs745950630 1250 A>V No TOPMed
gnomAD
rs757348778 1251 S>P No ExAC
TOPMed
gnomAD
rs1836083709 1252 P>L No Ensembl
rs758739667 1254 A>T No ExAC
TOPMed
gnomAD
rs1836084478 1254 A>V No Ensembl
rs1194394082 1255 R>G No gnomAD
rs747413689 1256 A>D No ExAC
TOPMed
gnomAD
rs1836085420 1256 A>T No Ensembl
rs747413689 1256 A>V No ExAC
TOPMed
gnomAD
rs769128557 1258 A>G No ExAC
TOPMed
gnomAD
rs769128557 1258 A>V No ExAC
TOPMed
gnomAD
rs1426998013 1259 A>D No TOPMed
gnomAD
rs748767045 1259 A>S No ExAC
gnomAD
rs1426998013 1259 A>V No TOPMed
gnomAD
rs1301699886 1260 Q>R No gnomAD
rs1228330745 1261 D>E No TOPMed
gnomAD
rs1836087956 1262 A>T No TOPMed
rs1363283120 1263 D>A No TOPMed
gnomAD
rs367595308 1264 S>G No ESP
ExAC
TOPMed
gnomAD
rs774007178 1264 S>R No ExAC
TOPMed
gnomAD
rs1836089197 1265 V>A No TOPMed
COSM1108640
rs371863959
 1265 V>I Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1235289708 1266 L>F No TOPMed
gnomAD
rs767244055 1266 L>P No ExAC
gnomAD
rs1235289708 1266 L>V No TOPMed
gnomAD
rs200462690 1267 R>Q No ExAC
gnomAD
rs141208447
COSM3907135
COSM3907134
 1267 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757301084 1270 M>I No ExAC
gnomAD
rs369860627 1270 M>L No ESP
ExAC
TOPMed
gnomAD
rs2132366045 1275 G>V No Ensembl
rs775419382 1276 N>I No Ensembl
rs1177406508 1277 L>F No gnomAD
TCGA novel 1277 L>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1836106076 1279 L>F No TOPMed
rs1836106546 1281 A>V No TOPMed
rs143639649 1282 T>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1470913266 1283 V>A No gnomAD
rs766581016 1283 V>M No ExAC
gnomAD
rs751795142 1284 C>G No ExAC
gnomAD
rs2132367527 1284 C>Y No Ensembl
rs377073203 1285 E>D No ESP
ExAC
TOPMed
gnomAD
rs146809876 1286 K>N No ESP
TOPMed
gnomAD
rs781569714 1287 T>M No ExAC
TOPMed
gnomAD
rs756560330 1291 R>C No ExAC
TOPMed
gnomAD
rs369779966 1291 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369779966 1291 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs745369536 1292 V>I No ExAC
TOPMed
gnomAD
rs745369536 1292 V>L No ExAC
TOPMed
gnomAD
rs1836110916 1294 K>R No gnomAD
rs772943628 1298 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs772943628 1298 R>G No ExAC
TOPMed
gnomAD
rs545206508 1298 R>H No 1000Genomes
TOPMed
gnomAD
rs1231534192 1299 V>M No TOPMed
gnomAD
rs1468270529 1300 V>L No TOPMed
gnomAD
rs1468270529 1300 V>M No TOPMed
gnomAD
COSM3657145
COSM3657144
 1301 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1176332274 1302 N>S No gnomAD
rs776254253 1303 T>A No ExAC
gnomAD
rs1836113300 1303 T>I No TOPMed
rs1587777875 1304 M>I No TOPMed
rs761716945 1304 M>V No ExAC
gnomAD
TCGA novel 1305 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1836114231 1306 R>S No Ensembl
rs769604489 1307 M>I No ExAC
TOPMed
gnomAD
rs1836114728 1310 L>P No TOPMed
RCV002275609
rs1410465047
 1312 P>L No ClinVar
TOPMed
dbSNP
gnomAD
rs1410465047 1312 P>Q No TOPMed
gnomAD
rs1410465047 1312 P>R No TOPMed
gnomAD
rs1254005957 1313 L>I No TOPMed
gnomAD
rs1587777954 1315 D>A No Ensembl
rs773266625 1315 D>Y No ExAC
rs762951390 1316 Q>* No ExAC
gnomAD
rs978246152
COSM353644
 1316 Q>H lung [Cosmic] No cosmic curated
TOPMed
rs766471394 1316 Q>R No ExAC
gnomAD
rs377197435
COSM327542
 1317 T>M haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1836128089 1318 G>D No Ensembl
rs770895405 1318 G>S No ExAC
TOPMed
gnomAD
rs1219865865 1320 Q>* No TOPMed
gnomAD
rs774392477 1321 L>V No ExAC
gnomAD
rs931979824 1322 I>V No TOPMed
rs775788909 1324 T>A No ExAC
TOPMed
gnomAD
rs1836130157 1324 T>S No gnomAD
TCGA novel 1325 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1163912494 1326 A>T No gnomAD
rs760893265 1328 E>D No ExAC
gnomAD
rs1386875385 1328 E>K No gnomAD
rs943991398 1329 L>P No Ensembl
rs1385733478 1332 L>I No gnomAD
rs373035054 1332 L>P No ESP
ExAC
gnomAD
rs757803531 1333 S>A No ExAC
TOPMed
gnomAD
rs1836132901 1333 S>F No Ensembl
rs757803531 1333 S>P No ExAC
TOPMed
gnomAD
rs757803531 1333 S>T No ExAC
TOPMed
gnomAD
rs1422102739 1334 K>E No TOPMed
rs1036822604 1335 L>F No TOPMed
rs143717358 1335 L>P No ESP
ExAC
TOPMed
gnomAD
rs1836134227 1336 K>R No Ensembl
rs1836151756 1337 D>G No Ensembl
rs199676393 1338 H>R No ExAC
TOPMed
gnomAD
rs1452315080 1338 H>Y No gnomAD
rs750969360 1339 M>T No ExAC
TOPMed
gnomAD
rs148132181 1339 M>V No ESP
TOPMed
gnomAD
rs1008098513 1340 V>A No TOPMed
gnomAD
rs549111622 1341 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs185611344 1341 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758996557 1342 E>K No ExAC
TOPMed
gnomAD
rs758996557 1342 E>Q No ExAC
TOPMed
gnomAD
rs757053832 1345 R>Q No ExAC
TOPMed
gnomAD
rs753629976 1345 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs778767174 1347 L>H No ExAC
gnomAD
rs1836156037 1349 P>Q No gnomAD
rs772001681 1349 P>S No ExAC
gnomAD
rs772001681 1349 P>T No ExAC
gnomAD
rs1411285500 1350 K>N No gnomAD
rs371802270 1352 C>Y No ESP
ExAC
gnomAD
rs1427770744 1353 A>V No TOPMed
gnomAD
rs1299045265 1354 V>I No gnomAD
COSM3375242
COSM3375243
 1356 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1427165098 1357 L>I No gnomAD
rs369287210 1358 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs369287210 1358 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs987424803 1358 A>V No TOPMed
gnomAD
rs1349519239 1360 D>N No gnomAD
rs762202317 1361 T>A No ExAC
gnomAD
rs1284647993 1362 I>T No gnomAD
rs1836159398 1362 I>V No TOPMed
rs1836160115 1363 K>E No TOPMed
rs1289678730 1364 Q>E No gnomAD
rs571815457 1366 F>L No 1000Genomes
ExAC
gnomAD
rs1264423328 1368 A>S No TOPMed
gnomAD
rs1264423328 1368 A>T No TOPMed
gnomAD
rs973621868 1371 N>K No gnomAD
TCGA novel
rs2132377332
 1372 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1381471462 1375 K>E No gnomAD
rs760178113 1378 L>Q No ExAC
gnomAD
rs1052131600 1379 E>K No TOPMed
rs141044319 1381 S>R No ESP
ExAC
TOPMed
gnomAD
rs1442971559
COSM233716
 1382 P>L skin [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1165124784 1383 D>Y No gnomAD
rs1836214879 1384 L>R No Ensembl
rs776229067 1384 L>V No ExAC
rs372983620 1385 Q>* No ESP
rs1456927509 1385 Q>H No TOPMed
gnomAD
rs761421583 1386 S>C No ExAC
TOPMed
gnomAD
rs761421583 1386 S>F No ExAC
TOPMed
gnomAD
rs1432832753
COSM1314797
 1388 R>C Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs772051551 1388 R>H No ExAC
TOPMed
gnomAD
rs772051551 1388 R>L No ExAC
TOPMed
gnomAD
rs1836216766 1389 Y>C No TOPMed
TCGA novel 1392 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1394 Y>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs867081245 1394 Y>H No Ensembl
rs79145949 1396 Q>E No Ensembl
rs1564201308 1397 T>A No TOPMed
rs751464466 1397 T>I No ExAC
gnomAD
rs1836219553 1399 D>N No gnomAD
TCGA novel 1400 T>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs537245832 1400 T>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1587781819 1401 L>V No TOPMed
rs1836220254 1402 I>F No Ensembl
rs756393565 1403 K>N No ExAC
TOPMed
gnomAD
rs920759368 1406 V>M No TOPMed
rs150259776
COSM167944
 1407 R>C Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs540562181
COSM3907136
COSM3907137
 1407 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs150259776 1407 R>S No ESP
ExAC
TOPMed
gnomAD
COSM3926762
COSM3926761
rs1182153107
 1408 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1182153107 1408 S>W No TOPMed
gnomAD
rs1422886560 1409 Q>H No TOPMed
gnomAD
rs1159129333 1410 T>I No gnomAD
rs866468523 1411 T>A No TOPMed
rs536280492 1411 T>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs866468523 1411 T>S No TOPMed
rs1196154026 1413 G>V No gnomAD
rs538269145 1414 S>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs764116015 1414 S>P No ExAC
TOPMed
gnomAD
rs757402517 1415 G>R No ExAC
TOPMed
gnomAD
COSM6183250
COSM6183249
 1416 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1836438609 1416 V>M No Ensembl
rs779249700 1417 D>E No ExAC
TOPMed
gnomAD
rs1190076415 1417 D>N No TOPMed
rs201901981 1418 D>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs201901981 1418 D>Y No 1000Genomes
ExAC
TOPMed
gnomAD
rs372377844 1419 P>A No ExAC
gnomAD
rs1564203918 1419 P>R No Ensembl
rs372377844 1419 P>T No ExAC
gnomAD
rs1403628762 1420 V>A No gnomAD
rs1403628762 1420 V>G No gnomAD
rs1836440469 1420 V>M No gnomAD
rs1836441022 1421 G>R No Ensembl
TCGA novel 1422 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1564203931 1423 V>I No Ensembl
rs780478775 1425 I>V No ExAC
TOPMed
gnomAD
rs747534939 1426 Q>R No ExAC
TOPMed
gnomAD
rs1433568301 1427 V>M No gnomAD
rs1295851785 1428 D>H No gnomAD
rs769305056 1429 L>F No ExAC
gnomAD
rs1836442661 1430 F>L No Ensembl
rs1836442888 1431 T>A No TOPMed
rs139395290 1431 T>I No ESP
ExAC
TOPMed
gnomAD
rs1315248418 1432 H>Q No gnomAD
rs1836443350 1432 H>Y No TOPMed
rs1358062524 1433 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1358062524 1433 P>R No TOPMed
gnomAD
TCGA novel 1433 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1030094954 1434 G>S No TOPMed
gnomAD
rs770486701 1435 T>A No ExAC
TOPMed
gnomAD
rs1210591296 1436 G>R No gnomAD
rs1448698612 1437 E>K No gnomAD
rs1836445865 1438 H>Q No gnomAD
rs759348167 1439 K>E No ExAC
TOPMed
gnomAD
rs1386216450 1440 V>F No TOPMed
rs1587789323 1444 V>G No Ensembl
rs745550012 1446 A>D No ExAC
TOPMed
gnomAD
rs778660508 1446 A>P No ExAC
TOPMed
gnomAD
rs778660508 1446 A>S No ExAC
TOPMed
gnomAD
rs534291867 1448 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1364433377 1450 L>F No TOPMed
gnomAD
rs1836463998 1450 L>P No TOPMed
rs775407637 1454 T>R No ExAC
gnomAD
rs746882482 1455 A>T No ExAC
gnomAD
rs768469521 1455 A>V No ExAC
TOPMed
gnomAD
rs761738217 1456 G>D No ExAC
gnomAD
rs2132400420 1456 G>S No Ensembl
rs761738217 1456 G>V No ExAC
gnomAD
rs1836466319 1457 M>I No Ensembl
rs888437438 1457 M>V No gnomAD
rs1393902713 1458 F>S No gnomAD
TCGA novel 1459 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1006810860 1459 R>Q No TOPMed
gnomAD
rs765319803 1459 R>W No ExAC
gnomAD
rs773381295 1461 F>S No ExAC
TOPMed
gnomAD
rs766636195 1462 V>L No ExAC
TOPMed
gnomAD
rs766636195 1462 V>M No ExAC
TOPMed
gnomAD
rs1224116416 1464 V>A No gnomAD
rs1342669690 1466 M>T No gnomAD
rs577404650 1466 M>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1716813843 1467 V>A No TOPMed
rs1836468794 1469 P>A No Ensembl
rs1836469019 1469 P>L No Ensembl
TCGA novel 1469 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1229969656 1470 H>Q No TOPMed
gnomAD
rs1276543086 1470 H>Y No TOPMed
gnomAD
rs1836469702 1472 S>I No Ensembl
rs1030560756 1473 D>N No TOPMed
gnomAD
rs1836470462 1473 D>V No gnomAD
rs546365356 1474 K>E No 1000Genomes
TOPMed
rs2132400927 1474 K>R No Ensembl
COSM1108643 1476 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1484160032 1476 R>W No gnomAD
rs1408131130 1477 K>R No TOPMed
gnomAD
rs755374772 1478 F>I No ExAC
gnomAD
rs1836472417 1479 T>K No Ensembl
TCGA novel 1479 T>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1836472654 1483 K>E No TOPMed
rs201643678 1483 K>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1836473181 1484 S>N No TOPMed
gnomAD
rs1481049259 1484 S>R No gnomAD
rs1178923171 1485 N>I No TOPMed
gnomAD
TCGA novel 1485 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1836473968 1486 N>D No TOPMed
rs1397572475 1487 W>R No Ensembl
rs1836474456 1488 A>T No TOPMed
rs1169262547 1488 A>V No TOPMed
gnomAD
rs753270903 1489 P>S No ExAC
gnomAD
rs778537685 1490 K>E No ExAC
gnomAD
rs1836475643 1490 K>N No Ensembl
rs1836475392 1490 K>R No TOPMed
gnomAD
rs2132401395 1491 Y>C No Ensembl
rs1370720358 1492 N>D No gnomAD
rs1836476118 1494 T>I No TOPMed
COSM455901
rs576351913
COSM5214927
 1496 H>Y Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs52810879 1497 F>L No TOPMed
gnomAD
rs1836476846 1497 F>L No TOPMed
rs1564204755 1500 G>E No TOPMed
gnomAD
COSM3657146
COSM3657147
rs960263285
 1501 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs779790361 1502 E>K No ExAC
TOPMed
gnomAD
rs1488434330 1503 E>K No gnomAD
COSM3907139
COSM3907138
 1505 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs142697917 1505 P>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781007943 1506 E>* No ExAC
gnomAD
rs781007943 1506 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1172856019 1507 S>Y No TOPMed
gnomAD
rs367567567 1508 Y>C No ESP
ExAC
TOPMed
gnomAD
rs1836502247 1510 L>F No Ensembl
rs769706042 1510 L>V No ExAC
gnomAD
rs774311374 1512 I>L No Ensembl
rs1352814953 1512 I>M No gnomAD
rs371689397 1514 V>L No ESP
ExAC
TOPMed
gnomAD
COSM76955
rs371689397
 1514 V>M ovary Variant assessed as Somatic; MODERATE impact. oesophagus [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1457317775 1517 Y>H No TOPMed
gnomAD
rs1836504188 1520 A>S No gnomAD
COSM1108644
rs1445074022
 1520 A>V Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs147360334 1521 R>Q No ESP
ExAC
TOPMed
gnomAD
rs17849227 1521 R>W No ESP
ExAC
TOPMed
gnomAD
rs199514152
COSM177356
 1524 R>C Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199514152 1524 R>G No ExAC
TOPMed
gnomAD
rs137999033 1524 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs137999033 1524 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs569837734 1525 V>A No 1000Genomes
ExAC
gnomAD
rs748746763 1525 V>L No ExAC
TOPMed
gnomAD
rs748746763 1525 V>M No ExAC
TOPMed
gnomAD
rs1463935022 1529 A>T No gnomAD
rs1303128101 1530 V>M No gnomAD
rs754635476 1531 M>L No ExAC
gnomAD
rs780765965 1531 M>R No ExAC
gnomAD
TCGA novel 1531 M>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1483370145 1532 P>S No gnomAD
rs1183277280 1534 R>K No TOPMed
gnomAD
rs78483173 1535 D>G No Ensembl
rs752531061 1535 D>N No ExAC
gnomAD
rs755916922 1538 A>V No ExAC
gnomAD
rs749256872 1540 G>D No ExAC
gnomAD
rs777639636 1540 G>S No ExAC
gnomAD
rs749256872 1540 G>V No ExAC
gnomAD
rs770897087 1541 S>I No ExAC
TOPMed
gnomAD
TCGA novel 1542 C>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs779031727 1542 C>Y No ExAC
gnomAD
rs951420356 1543 A>T No TOPMed
gnomAD
rs1836511388 1545 W>C No gnomAD
rs1587791004 1546 C>G No Ensembl
rs1836512041 1547 P>S No TOPMed
rs1481467758 1549 G>R No TOPMed
gnomAD
rs761059704 1550 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs775583131 1550 R>W No ExAC
TOPMed
gnomAD
rs1378755782 1552 I>L No TOPMed
gnomAD
rs1836513454 1552 I>M No Ensembl
rs1378755782 1552 I>V No TOPMed
gnomAD
rs1410435595
COSM1231755
 1553 H>R large_intestine [Cosmic] No cosmic curated
gnomAD
rs769161004 1554 M>T No ExAC
TOPMed
gnomAD
TCGA novel
rs2132404806
 1556 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs777234673 1558 G>D No ExAC
gnomAD
rs1228392364 1558 G>S No TOPMed
gnomAD
rs143085052 1559 L>V No 1000Genomes
rs1267079493 1560 T>I No TOPMed
gnomAD
rs907804054 1561 I>L No TOPMed
gnomAD
rs907804054 1561 I>V No TOPMed
gnomAD
COSM5005904
rs1208495918
COSM5005903
 1562 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
COSM753520
rs765710171
 1563 R>Q lung [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs376478024 1563 R>W No ESP
TOPMed
gnomAD
rs751065390 1564 I>L No ExAC
gnomAD
rs759033937 1565 L>* No ExAC
gnomAD
rs1451150850 1567 Q>* No gnomAD
rs1471568632 1567 Q>P No gnomAD
TCGA novel 1568 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs973259786 1570 N>S No TOPMed
gnomAD
TCGA novel 1571 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1025861126 1572 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No Ensembl
NCI-TCGA
COSM4841351
COSM4841352
rs1025861126
 1572 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs755863703 1572 E>V No ExAC
gnomAD
rs369613302 1573 V>L No ESP
ExAC
TOPMed
gnomAD
rs369613302 1573 V>M No ESP
ExAC
TOPMed
gnomAD
rs1836519952 1574 A>S No Ensembl
COSM3907141
COSM3907140
rs1836520176
 1575 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
gnomAD
rs1430707262 1575 R>Q No TOPMed
gnomAD
rs778786242 1577 F>L No ExAC
gnomAD
rs149475299 1578 V>A No ESP
ExAC
TOPMed
gnomAD
rs745898914 1578 V>L No ExAC
TOPMed
gnomAD
rs745898914 1578 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1165556265 1579 K>E No gnomAD
rs371510721 1579 K>N No ESP
ExAC
TOPMed
gnomAD
rs1217766876 1580 L>F No gnomAD
COSM3907143
COSM3907142
 1580 L>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1836522687 1582 S>T No TOPMed
gnomAD
rs143964256 1585 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148652179 1585 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1276121051 1586 S>F No gnomAD
rs534190040 1587 T>A No 1000Genomes
ExAC
gnomAD
rs374982765 1587 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773596841 1588 E>K No ExAC
TOPMed
gnomAD
rs759037637 1589 E>D No ExAC
TOPMed
gnomAD
rs1836525507 1589 E>Q No TOPMed

No associated diseases with O14795

9 regional properties for O14795

Type Name Position InterPro Accession
domain CARD domain 1 - 88 IPR001315-1
domain CARD domain 107 - 178 IPR001315-2
repeat Leucine-rich repeat 844 - 865 IPR001611-1
repeat Leucine-rich repeat 870 - 893 IPR001611-2
repeat Leucine-rich repeat 900 - 921 IPR001611-3
repeat Leucine-rich repeat 955 - 978 IPR001611-4
domain NACHT nucleoside triphosphatase 266 - 435 IPR007111
domain NOD2, winged helix domain 519 - 560 IPR041075
domain NACHT, LRR and PYD domains-containing protein, helical domain HD2 576 - 730 IPR041267

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Membrane ; Peripheral membrane protein
  • Cell membrane
  • Synapse
  • Localized to synapses
  • Translocated to the plasma membrane in response to phorbol ester binding (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

10 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
neuromuscular junction The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
presynaptic active zone A specialized region of the plasma membrane and cell cortex of a presynaptic neuron; encompasses a region of the plasma membrane where synaptic vesicles dock and fuse, and a specialized cortical cytoskeletal matrix.
presynaptic active zone cytoplasmic component A specialized region below the presynaptic membrane, characterized by electron-dense material, a specialized cytoskeletal matrix and accumulated (associated) synaptic vesicles.
presynaptic membrane A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane.
synaptic vesicle membrane The lipid bilayer surrounding a synaptic vesicle.
terminal bouton Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal bouton is a specialized region of it.

7 GO annotations of molecular function

Name Definition
calcium ion binding Binding to a calcium ion (Ca2+).
calmodulin binding Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
diacylglycerol binding Binding to a diacylglycerol, a diester of glycerol and two fatty acids.
GTP-dependent protein binding Binding to a protein or protein complex when at least one of the interacting partners is in the GTP-bound state.
phospholipid binding Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester.
small GTPase binding Binding to a small monomeric GTPase.
syntaxin-1 binding Binding to a syntaxin-1 SNAP receptor.

15 GO annotations of biological process

Name Definition
acrosomal vesicle exocytosis The calcium ion regulated exocytosis which results in fusion of the acrosomal vesicle with the plasma membrane of the sperm as part of the acrosome reaction.
cellular response to glucose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus.
chemical synaptic transmission The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
dense core granule priming A process that converts unprimed dense core granules (DCVs) to a pool of primed vesicles that are capable of fusing with the plasma membrane (fusion-competent) and thereby releasing their contents. Priming typically occurs after docking.
neuromuscular junction development A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a neuromuscular junction.
neuronal dense core vesicle exocytosis The secretion of molecules (e.g. neuropeptides, insulin-related peptides or neuromodulators such as serotonin and dopamine) contained within a neuronal dense core vesicle by fusion of the granule with the plasma membrane of a neuron in response to increased cytosolic calcium levels.
positive regulation of apoptotic process Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of inhibitory postsynaptic potential Any process that activates or increases the frequency, rate or extent of inhibitory postsynaptic potential (IPSP). IPSP is a temporary decrease in postsynaptic membrane potential due to the flow of negatively charged ions into the postsynaptic cell. The flow of ions that causes an IPSP is an inhibitory postsynaptic current (IPSC) and makes it more difficult for the neuron to fire an action potential.
positive regulation of protein secretion Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell.
positive regulation of synaptic vesicle priming Any process that increases the frequency, rate or extent of synaptic vesicle priming. Synaptic vesicle priming is the formation of SNARE-containing complexes, bringing synaptic vesicle membrane and plasma membranes into close proximity and thereby facilitating membrane fusion.
presynaptic dense core vesicle exocytosis The secretion of molecules (e.g. neuropeptides and neuromodulators such as serotonin and dopamine) contained within a membrane-bounced dense in response to increased presynaptic cytosolic calcium levels.
synaptic transmission, glutamatergic The vesicular release of glutamate from a presynapse, across a chemical synapse, the subsequent activation of glutamate receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
synaptic vesicle docking The initial (indirect) attachment of a synaptic vesicle membrane to the presynaptic active zone membrane, mediated by proteins protruding from the membrane and proteins of the presynaptic active zone cytoplasmic component. Synaptic vesicle tethering is the first step in this process.
synaptic vesicle maturation Steps required to form an initiated synaptic vesicle into a fully formed and transmissible synaptic vesicle.
synaptic vesicle priming A process that converts synaptic vesicles to a state of competence for calcium triggered fusion with the active zone membrane by bringing the two membranes into very close proximity. Priming typically (but not always) occurs after docking (Jahn and Fasshauer, 2012). Primed vesicles are also capable of spontaneously fusing with the active zone membrane.

9 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9UPW8 UNC13A Protein unc-13 homolog A Homo sapiens (Human) SS
Q8NB66 UNC13C Protein unc-13 homolog C Homo sapiens (Human) SS
Q4KUS2 Unc13a Protein unc-13 homolog A Mus musculus (Mouse) SS
Q8K0T7 Unc13c Protein unc-13 homolog C Mus musculus (Mouse) SS
Q9Z1N9 Unc13b Protein unc-13 homolog B Mus musculus (Mouse) SS
Q62770 Unc13c Protein unc-13 homolog C Rattus norvegicus (Rat) SS
Q62768 Unc13a Protein unc-13 homolog A Rattus norvegicus (Rat) SS
Q62769 Unc13b Protein unc-13 homolog B Rattus norvegicus (Rat) SS
P27715 unc-13 Phorbol ester/diacylglycerol-binding protein unc-13 Caenorhabditis elegans EV
10 20 30 40 50 60
MSLLCVRVKR AKFQGSPDKF NTYVTLKVQN VKSTTVAVRG DQPSWEQDFM FEISRLDLGL
70 80 90 100 110 120
SVEVWNKGLI WDTMVGTVWI ALKTIRQSDE EGPGEWSTLE AETLMKDDEI CGTRNPTPHK
130 140 150 160 170 180
ILLDTRFELP FDIPEEEARY WTYKWEQINA LGADNEYSSQ EESQRKPLPT AAAQCSFEDP
190 200 210 220 230 240
DSAVDDRDSD YRSETSNSFP PPYHTASQPN ASVHQFPVPV RSPQQLLLQG SSRDSCNDSM
250 260 270 280 290 300
QSYDLDYPER RAISPTSSSR YGSSCNVSQG SSQLSELDQY HEQDDDHRET DSIHSCHSSH
310 320 330 340 350 360
SLSRDGQAGF GEQEKPLEVT GQAEKEAACE PKEMKEDATT HPPPDLVLQK DHFLGPQESF
370 380 390 400 410 420
PEENASSPFT QARAHWIRAV TKVRLQLQEI PDDGDPSLPQ WLPEGPAGGL YGIDSMPDLR
430 440 450 460 470 480
RKKPLPLVSD LSLVQSRKAG ITSAMATRTS LKDEELKSHV YKKTLQALIY PISCTTPHNF
490 500 510 520 530 540
EVWTATTPTY CYECEGLLWG IARQGMRCSE CGVKCHEKCQ DLLNADCLQR AAEKSCKHGA
550 560 570 580 590 600
EDRTQNIIMA MKDRMKIRER NKPEIFEVIR DVFTVNKAAH VQQMKTVKQS VLDGTSKWSA
610 620 630 640 650 660
KITITVVCAQ GLQAKDKTGS SDPYVTVQVS KTKKRTKTIF GNLNPVWEEK FHFECHNSSD
670 680 690 700 710 720
RIKVRVWDED DDIKSRVKQR LKRESDDFLG QTIIEVRTLS GEMDVWYNLE KRTDKSAVSG
730 740 750 760 770 780
AIRLQISVEI KGEEKVAPYH VQYTCLHENL FHYLTDIQGS GGVRIPEARG DDAWKVYFDE
790 800 810 820 830 840
TAQEIVDEFA MRYGIESIYQ AMTHFACLSS KYMCPGVPAV MSTLLANINA YYAHTTASTN
850 860 870 880 890 900
VSASDRFAAS NFGKERFVKL LDQLHNSLRI DLSTYRNNFP AGSPERLQDL KSTVDLLTSI
910 920 930 940 950 960
TFFRMKVQEL QSPPRASQVV KDCVKACLNS TYEYIFNNCH DLYSRQYQLK QELPPEEQGP
970 980 990 1000 1010 1020
SIRNLDFWPK LITLIVSIIE EDKNSYTPVL NQFPQELNVG KVSAEVMWHL FAQDMKYALE
1030 1040 1050 1060 1070 1080
EHEKDHLCKS ADYMNLHFKV KWLHNEYVRD LPVLQGQVPE YPAWFEQFVL QWLDENEDVS
1090 1100 1110 1120 1130 1140
LEFLRGALER DKKDGFQQTS EHALFSCSVV DVFTQLNQSF EIIRKLECPD PSILAHYMRR
1150 1160 1170 1180 1190 1200
FAKTIGKVLM QYADILSKDF PAYCTKEKLP CILMNNVQQL RVQLEKMFEA MGGKELDLEA
1210 1220 1230 1240 1250 1260
ADSLKELQVK LNTVLDELSM VFGNSFQVRI DECVRQMADI LGQVRGTGNA SPDARASAAQ
1270 1280 1290 1300 1310 1320
DADSVLRPLM DFLDGNLTLF ATVCEKTVLK RVLKELWRVV MNTMERMIVL PPLTDQTGTQ
1330 1340 1350 1360 1370 1380
LIFTAAKELS HLSKLKDHMV REETRNLTPK QCAVLDLALD TIKQYFHAGG NGLKKTFLEK
1390 1400 1410 1420 1430 1440
SPDLQSLRYA LSLYTQTTDT LIKTFVRSQT TQGSGVDDPV GEVSIQVDLF THPGTGEHKV
1450 1460 1470 1480 1490 1500
TVKVVAANDL KWQTAGMFRP FVEVTMVGPH QSDKKRKFTT KSKSNNWAPK YNETFHFLLG
1510 1520 1530 1540 1550 1560
NEEGPESYEL QICVKDYCFA REDRVLGLAV MPLRDVTAKG SCACWCPLGR KIHMDETGLT
1570 1580 1590
ILRILSQRSN DEVAREFVKL KSESRSTEEG S