Descriptions

TLR9 (Toll-like receptor 9) plays a key role in the innate immune system in response to unmethylated CpG DNA. After stimulation of cells with CpG DNA, TLR9 redistributes from the endoplasmic reticulum to lysosomes, where a signaling cascade is triggered by recruitment of the MyD88 adaptor molecule. TLR9 is a type I transmembrane protein characterized by an extracellular leucine-rich repeat (LRR) domain, a transmembrane helix, and an intracellular Toll/interleukin-1 receptor (TIR) homology domain. TLR9 undergoes proteolytic cleavage, executed by cysteine proteases, in the endolysosomal compartment, and molecular modeling shows that the cleavage sites are situated between LRR14 and LRR15, as being part of a flexible loop that could render TLR9 susceptible to proteolysis. On a molar basis, the C-terminal cleavage fragment of TLR9 binds CpG DNA more strongly than does full-length TLR9, although full-length TLR9 binds CpG DNA. The broadly specific inhibitor z-FA-fmk is most effective at blocking the cleavage and, accordingly, abrogated TNF production in cells exposed to the TLR9 agonist CpG DNA.

Autoinhibitory domains (AIDs)

Target domain

24-806 (LRR domains)

Relief mechanism

Cleavage

Assay

Deletion assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for Q9NR96

Entry ID Method Resolution Chain Position Source
8AR3 NMR - A 812-860 PDB
AF-Q9NR96-F1 Predicted AlphaFoldDB

825 variants for Q9NR96

Variant ID(s) Position Change Description Diseaes Association Provenance
CA353105861
rs1240996318
2 G>D No ClinGen
gnomAD
CA353105858
rs1273048547
3 F>L No ClinGen
gnomAD
VAR_024668
RCV000971495
CA2430897
rs5743842
5 R>C No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2430896
rs199759037
COSM1424364
5 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2430895
rs56172276
6 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA353105732
rs1362089750
7 A>D No ClinGen
gnomAD
CA2430893
COSM1046839
rs150459369
7 A>T Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202195635
CA74732836
9 H>Y No ClinGen
TOPMed
gnomAD
rs370157255
CA2430892
10 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1270141629
CA353105641
11 L>M No ClinGen
gnomAD
rs1288470860
CA353105588
13 L>F No ClinGen
gnomAD
rs1394861605
CA353105537
15 V>M No ClinGen
TOPMed
rs1577981421
CA353105507
16 Q>K No ClinGen
Ensembl
CA2430888
rs139242193
18 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353105393
rs1186360916
18 I>V No ClinGen
gnomAD
CA2430887
rs746563907
19 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1241708543
CA2430885
22 M>I No ClinGen
TOPMed
rs1312227021
CA353105155
23 T>A No ClinGen
TOPMed
rs1277429812
CA353105116
23 T>I No ClinGen
gnomAD
CA74732820
rs918728499
25 A>V No ClinGen
Ensembl
CA2430882
rs754311214
26 L>P No ClinGen
ExAC
gnomAD
rs1356994585
CA353105013
27 G>D No ClinGen
gnomAD
CA74732815
rs866728864
28 T>I No ClinGen
Ensembl
CA353104941
rs1245349119
29 L>F No ClinGen
TOPMed
rs1354121442
CA353104893
31 A>D No ClinGen
TOPMed
gnomAD
rs1354121442
CA353104888
31 A>V No ClinGen
TOPMed
gnomAD
CA2430881
rs367677799
32 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs974271351
CA74732806
35 C>F No ClinGen
Ensembl
CA353104801
rs1239041600
35 C>R No ClinGen
TOPMed
rs892160452
CA74732803
38 Q>L No ClinGen
Ensembl
rs750628960
CA2430879
39 P>A No ClinGen
ExAC
gnomAD
rs1229630759
CA353104652
40 H>Y No ClinGen
gnomAD
rs200055519
CA2430877
41 G>S No ClinGen
ExAC
gnomAD
CA74732795
rs952850329
44 N>K No ClinGen
gnomAD
rs201958063
CA74732793
45 C>Y No ClinGen
gnomAD
TCGA novel 47 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
CA74732790
rs180715569
49 F>V No ClinGen
Ensembl
CA2430873
rs775461893
52 S>F No ClinGen
ExAC
gnomAD
CA353104311
rs1257387558
54 P>H No ClinGen
gnomAD
CA2430872
rs764964193
55 H>L No ClinGen
ExAC
gnomAD
CA2430871
rs55979550
58 M>R No ClinGen
ExAC
gnomAD
rs750403100
CA74732781
58 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA2430869
rs374677585
60 A>T No ClinGen
ESP
ExAC
gnomAD
rs770637836
CA2430868
61 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs770637836
CA353104131
61 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA2430867
rs200596305
62 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs997645449
CA74732772
62 R>H No ClinGen
gnomAD
rs772719609
CA2430866
63 G>D No ClinGen
ExAC
gnomAD
CA353104068
rs1464508419
64 N>D No ClinGen
gnomAD
CA353104044
rs1171569842
65 V>I No ClinGen
gnomAD
rs189941642
CA74732765
66 T>I No ClinGen
1000Genomes
TOPMed
CA353104024
rs1577981311
66 T>P No ClinGen
Ensembl
rs780558008
CA2430863
67 S>R No ClinGen
ExAC
gnomAD
rs1183785127
CA353103942
69 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs756551977
CA2430862
70 L>* No ClinGen
ExAC
gnomAD
CA353103924
rs756551977
70 L>S No ClinGen
ExAC
gnomAD
CA2430861
rs746281362
74 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA2430860
rs781684117
74 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA353103729
rs1319660926
77 H>Q No ClinGen
gnomAD
CA2430858
rs5743843
VAR_052364
79 H>Q No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs1246235772
CA353103702
79 H>Y No ClinGen
gnomAD
rs1020495230
CA74732752
83 F>L No ClinGen
Ensembl
CA2430857
rs751767849
83 F>S No ClinGen
ExAC
gnomAD
rs1226463372
CA353103578
84 A>V No ClinGen
TOPMed
COSM3595893 85 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1299201604
CA353103568
85 H>P No ClinGen
gnomAD
CA2430855
rs201646083
85 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs776469312
CA2430851
88 S>R No ClinGen
ExAC
gnomAD
rs759389903
CA2430852
88 S>R No ClinGen
ExAC
gnomAD
rs766103514
CA2430850
90 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA353103487
rs1441565360
90 R>W No ClinGen
gnomAD
CA2430849
rs201572271
91 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1577981247
CA353103457
91 H>Y No ClinGen
Ensembl
rs200206317
CA2430848
93 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1166311703
CA353103366
94 L>R No ClinGen
gnomAD
rs747740029
CA2430846
96 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA2430845
rs773699082
98 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2430844
rs5743844
99 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2430842
COSM3781847
rs781694864
100 P>L pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1389105161
CA353103180
101 V>A No ClinGen
gnomAD
TCGA novel 104 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1577981210
CA353103059
106 M>R No ClinGen
Ensembl
CA353103046
rs1577981209
107 H>P No ClinGen
Ensembl
rs1577981207
CA353103009
108 F>S No ClinGen
Ensembl
CA353102991
rs1295652148
109 P>R No ClinGen
gnomAD
CA2430840
rs747260036
111 H>Q No ClinGen
ExAC
gnomAD
CA353102893
rs1157043280
114 I>V No ClinGen
gnomAD
CA2430836
rs184563116
115 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs184563116
CA2430837
115 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA74732717
rs1026141784
116 P>S No ClinGen
Ensembl
rs1431366387
CA353102831
117 S>N No ClinGen
gnomAD
COSM3595892 118 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs149110022
CA2430834
121 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs149110022
CA2430835
121 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs148085174
CA2430833
122 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs56287816
CA2430832
123 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA2430831
rs201783734
124 T>A No ClinGen
ExAC
gnomAD
rs974162456
CA74732702
124 T>N No ClinGen
gnomAD
rs201783734
CA74732705
124 T>S No ClinGen
ExAC
gnomAD
CA353102627
rs1350834332
126 E>G No ClinGen
gnomAD
rs1262811850
CA353102553
129 N>K No ClinGen
TOPMed
rs761364189
CA2430829
135 I>V No ClinGen
ExAC
gnomAD
CA2430828
rs200978876
136 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2430827
rs767987176
136 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA74732695
rs200978876
136 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM273352 139 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA353102276
rs1402656322
139 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2430826
rs200627901
140 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1379324294
CA353102228
142 P>A No ClinGen
gnomAD
rs1379324294
CA353102226
142 P>S No ClinGen
gnomAD
CA353102190
rs1577981122
144 S>P No ClinGen
Ensembl
COSM1046837 146 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA2430823
rs747419130
147 S>C No ClinGen
ExAC
gnomAD
COSM3595891 147 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA353102136
rs1577981119
147 S>P No ClinGen
Ensembl
CA353102131
rs1424057961
148 L>M No ClinGen
TOPMed
rs1577981105
CA353102117
149 S>P No ClinGen
Ensembl
rs376087748
CA2430821
149 S>Y No ClinGen
ESP
ExAC
gnomAD
CA2430819
rs779052425
150 L>P No ClinGen
ExAC
CA74732683
rs919277696
150 L>V No ClinGen
TOPMed
rs1342987320
CA353102034
152 H>R No ClinGen
TOPMed
CA353101977
rs1577981096
153 T>P No ClinGen
Ensembl
rs1224643512
CA353101840
156 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1298778487
CA353101700
161 A>T No ClinGen
TOPMed
rs201201841
CA2430813
163 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA2430810
rs763686449
164 A>D No ClinGen
ExAC
gnomAD
TCGA novel 164 A>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1046836
CA2430811
rs200062660
164 A>T oesophagus endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs201740851
COSM6165006
COSM1538106
CA2430807
165 G>S lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
rs771634375
CA2430806
166 L>P No ClinGen
ExAC
gnomAD
COSM4118968 167 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1421307312
CA353101497
167 H>Q No ClinGen
gnomAD
rs1172566806
CA353101489
168 A>S No ClinGen
gnomAD
CA2430805
rs201098493
168 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA74732656
rs1011356526
170 R>C No ClinGen
TOPMed
gnomAD
rs199767102
CA2430803
170 R>H No ClinGen
ExAC
TOPMed
gnomAD
COSM1046835 176 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1479202525
CA353101300
176 G>S No ClinGen
TOPMed
CA353101236
rs1405309670
177 N>S No ClinGen
TOPMed
CA353101256
rs1192636526
177 N>Y No ClinGen
TOPMed
rs768844402
CA2430800
180 Y>H No ClinGen
ExAC
gnomAD
TCGA novel 181 K>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1438595607
CA353101101
181 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs749405730
CA2430799
182 N>K No ClinGen
ExAC
gnomAD
CA2430798
rs780099835
183 P>L No ClinGen
ExAC
gnomAD
rs780099835
RCV001172304
183 P>R No ClinVar
dbSNP
rs777760744
CA74732648
183 P>T No ClinGen
TOPMed
gnomAD
CA2430797
CA353101020
rs756098803
185 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA2430796
rs750300739
187 A>E No ClinGen
ExAC
gnomAD
CA353100919
rs1577981012
190 V>G No ClinGen
Ensembl
CA353100932
rs1339785578
190 V>M No ClinGen
Ensembl
rs1330761016
CA353100897
COSM3696180
191 A>V Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
CA2430793
rs751351212
192 P>L No ClinGen
ExAC
gnomAD
CA74732629
rs199542217
193 G>D No ClinGen
TOPMed
TCGA novel 193 G>V Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
CA353100858
rs1161158331
194 A>T No ClinGen
gnomAD
CA2430791
rs201050931
195 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA353100819
rs1385403961
196 L>P No ClinGen
gnomAD
rs764783650
CA2430789
197 G>A No ClinGen
ExAC
gnomAD
rs764783650
CA353100798
197 G>D No ClinGen
ExAC
gnomAD
CA2430790
rs200383943
197 G>S No ClinGen
ExAC
gnomAD
CA353100764
rs1438812490
199 G>D No ClinGen
gnomAD
CA353100746
rs1577980971
200 N>T No ClinGen
Ensembl
CA353100707
rs1376410257
202 T>N No ClinGen
TOPMed
rs1577980966
CA353100715
202 T>P No ClinGen
Ensembl
CA353100691
rs1361879205
203 H>L No ClinGen
gnomAD
CA353100695
rs1361879205
203 H>P No ClinGen
gnomAD
rs1007724971
CA74732617
206 L>F No ClinGen
TOPMed
gnomAD
CA353100568
rs1321350883
209 N>D No ClinGen
gnomAD
TCGA novel 210 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs759945507
CA74732610
211 L>F No ClinGen
gnomAD
rs774746148
CA2430784
213 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA353100442
rs1228312597
215 P>L No ClinGen
TOPMed
rs147453407
CA2430783
216 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2430782
rs749495421
COSM285758
216 R>H Variant assessed as Somatic; MODERATE impact. oesophagus large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs140994532
CA2430781
217 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs929984846
CA74732602
217 N>S No ClinGen
TOPMed
CA353100283
rs1490930435
221 S>R No ClinGen
TOPMed
gnomAD
rs769795689
CA2430780
221 S>R No ClinGen
ExAC
gnomAD
CA2430778
rs781043967
223 E>D No ClinGen
ExAC
gnomAD
CA2430779
rs201564821
223 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2430776
rs746846564
230 N>D No ClinGen
ExAC
gnomAD
CA353100097
COSM4118967
rs1366842587
231 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs147300053
CA2430775
231 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147300053
CA2430774
231 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2430772
rs137890561
233 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353100016
rs1297252503
234 K>T No ClinGen
gnomAD
CA2430770
rs753365019
236 A>T No ClinGen
ExAC
gnomAD
CA2430769
rs201482702
236 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1174860358
CA353099943
238 E>K No ClinGen
gnomAD
rs978782016
CA74732575
240 L>P No ClinGen
Ensembl
CA2430767
rs774632252
242 N>I No ClinGen
ExAC
gnomAD
CA353099818
rs774632252
242 N>S No ClinGen
ExAC
gnomAD
CA74732571
rs200364422
243 L>Q No ClinGen
TOPMed
gnomAD
CA74732569
rs200364422
243 L>R No ClinGen
TOPMed
gnomAD
rs763164177
CA2430765
245 A>T No ClinGen
ExAC
gnomAD
rs1559437996
CA353099715
246 L>P No ClinGen
Ensembl
CA2430763
COSM1229413
rs769984937
247 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA74732562
COSM290543
rs749742285
247 R>H Variant assessed as Somatic; MODERATE impact. large_intestine breast [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA353099672
rs1225248290
248 V>L No ClinGen
gnomAD
rs776772605
CA2430761
250 D>N No ClinGen
ExAC
gnomAD
rs1287019916
CA353099586
251 V>M No ClinGen
gnomAD
CA2430759
rs746908600
COSM1734823
253 G>R pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA74732554
rs992576380
256 R>C No ClinGen
TOPMed
gnomAD
rs202089021
CA2430758
256 R>H No ClinGen
ExAC
gnomAD
rs202089021
CA353099424
256 R>L No ClinGen
ExAC
gnomAD
CA74732550
rs201149475
257 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA353099410
COSM1424363
rs1430528863
257 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
CA353099353
rs1421960438
259 D>N No ClinGen
gnomAD
COSM1424362
CA353099277
rs1482996940
261 A>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1034146592
CA74732543
263 N>K No ClinGen
Ensembl
CA74732545
rs200870101
263 N>S No ClinGen
TOPMed
CA2430755
rs778756316
265 C>S No ClinGen
ExAC
gnomAD
rs1461720605
CA353099106
266 M>T No ClinGen
gnomAD
rs754627415
CA2430754
266 M>V No ClinGen
ExAC
gnomAD
rs1577980835
CA353099074
267 E>G No ClinGen
Ensembl
CA74732538
rs1001378722
268 C>R No ClinGen
Ensembl
CA353099041
rs1225003881
268 C>Y No ClinGen
gnomAD
rs372334880
CA2430753
270 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147338328
CA2430752
270 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA74732533
rs200060595
271 H>R No ClinGen
TOPMed
gnomAD
CA353098866
rs1452816146
273 P>T No ClinGen
gnomAD
CA74732529
rs968406997
274 Q>* No ClinGen
TOPMed
COSM3595889 277 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs199797502
COSM4118964
CA2430749
278 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1189982304
CA353098569
280 F>S No ClinGen
gnomAD
TCGA novel 282 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA2430747
rs753032218
285 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA353098375
rs897140854
COSM1617836
285 R>H liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs897140854
CA74732522
285 R>P No ClinGen
TOPMed
gnomAD
rs1423460421
CA353098331
287 E>* No ClinGen
gnomAD
rs759791507
CA2430745
289 L>P No ClinGen
ExAC
gnomAD
CA353098081
rs1559437926
293 D>E No ClinGen
Ensembl
rs1445268865
CA353098094
293 D>G No ClinGen
gnomAD
COSM731140 294 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1193981814
CA353098032
297 S>P No ClinGen
TOPMed
gnomAD
TCGA novel 297 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA353097979
rs1342379548
298 W>C No ClinGen
TOPMed
CA353097929
rs1476223719
301 A>T No ClinGen
TOPMed
gnomAD
TCGA novel 301 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs770978006
CA2430743
302 S>I No ClinGen
ExAC
gnomAD
rs200788196
CA74732511
303 W>* No ClinGen
Ensembl
CA2430742
rs760563131
303 W>S No ClinGen
ExAC
gnomAD
CA2430741
rs773233756
305 R>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 306 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs747995692
COSM1670242
CA2430739
311 R>* haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs141692865
CA2430738
311 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1005568000
CA74732502
312 V>A No ClinGen
Ensembl
rs1559437904
CA353097649
312 V>M No ClinGen
Ensembl
CA353097591
rs1195512596
313 L>P No ClinGen
TOPMed
rs1477781976
CA353097350
320 L>F No ClinGen
TOPMed
CA353097344
rs1299111372
320 L>P No ClinGen
gnomAD
CA353097237
rs1577980747
323 C>Y No ClinGen
Ensembl
CA353097156
rs1165668310
326 K>Q No ClinGen
gnomAD
CA353097003
rs1179656671
331 Q>* No ClinGen
gnomAD
rs202131815
CA2430731
COSM4734022
337 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1489779545
CA353096842
337 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM6097955 340 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA2430729
rs765584183
342 S>F No ClinGen
ExAC
gnomAD
rs201312874
CA74732481
344 N>S No ClinGen
TOPMed
CA353096585
rs1275070203
348 R>T No ClinGen
TOPMed
rs1319273627
CA353096573
349 V>M No ClinGen
TOPMed
gnomAD
CA353096483
rs1577980699
353 H>P No ClinGen
Ensembl
rs1488551983
CA353096426
358 P>A No ClinGen
TOPMed
rs200074687
CA2430724
361 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs772198850
CA2430723
362 S>N No ClinGen
ExAC
gnomAD
CA2430717
rs373946909
365 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2430716
rs373946909
365 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs924347558
CA74732456
COSM1229419
371 M>I large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1327780209
CA353096245
371 M>T No ClinGen
gnomAD
rs780667225
CA2430714
371 M>V No ClinGen
ExAC
gnomAD
CA353096229
rs1259167420
372 H>D No ClinGen
gnomAD
CA74732454
rs978547295
372 H>P No ClinGen
TOPMed
CA74732452
rs143200897
372 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM4118963
CA353096227
rs1259167420
372 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
NCI-TCGA
gnomAD
COSM1424361 373 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs927023070
CA74732450
373 G>S No ClinGen
Ensembl
CA353096166
rs1559437844
376 F>L No ClinGen
Ensembl
rs980298299
CA74732447
377 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA353096150
rs1321938830
377 R>H No ClinGen
gnomAD
CA353096131
rs1285586024
379 L>F No ClinGen
gnomAD
CA2430708
rs754127798
380 D>E No ClinGen
ExAC
gnomAD
rs201499670
CA2430710
380 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs201499670
CA2430709
380 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs971236893
CA74732440
381 E>D No ClinGen
Ensembl
rs766661466
CA2430707
381 E>K No ClinGen
ExAC
gnomAD
rs1577980628
CA353096062
382 T>P No ClinGen
Ensembl
rs200533822
CA2430705
383 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774303186
CA2430702
385 R>Q No ClinGen
ExAC
gnomAD
rs144717805
CA2430703
385 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769544318
CA2430698
389 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA2430697
rs142357270
389 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142357270
CA2430696
389 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1204748301
CA353095955
390 L>M No ClinGen
gnomAD
CA353095929
rs1339105704
392 M>V No ClinGen
gnomAD
CA353095909
rs1268690823
393 L>F No ClinGen
gnomAD
rs748679440
CA2430694
395 T>I No ClinGen
ExAC
gnomAD
rs199736549
CA74732424
397 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs199736549
CA74732426
397 R>G No ClinGen
Ensembl
CA2430693
rs779526214
397 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA74732421
rs1006284456
398 L>V No ClinGen
TOPMed
COSM4819269 399 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA353095799
CA74732417
rs41308230
400 M>I No ClinGen
TOPMed
CA353095811
rs1163341375
400 M>V No ClinGen
TOPMed
CA353095784
rs1458754306
401 N>S No ClinGen
TOPMed
COSM1328132 404 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA2430692
rs755406172
404 N>S No ClinGen
ExAC
gnomAD
rs755406172
CA353095734
404 N>T No ClinGen
ExAC
gnomAD
rs866716615
CA74732414
406 A>T No ClinGen
Ensembl
rs749725833
CA2430691
406 A>V No ClinGen
ExAC
gnomAD
rs745639056
CA2430690
408 L>I No ClinGen
ExAC
gnomAD
CA2430688
rs200495784
409 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA74732408
rs200495784
409 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA353095648
rs1243994424
410 I>V No ClinGen
TOPMed
gnomAD
rs1475539937
CA353095637
411 F>L No ClinGen
gnomAD
rs550218164
CA353095597
413 A>G No ClinGen
1000Genomes
ExAC
gnomAD
rs550218164
CA2430687
413 A>V No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 414 F>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA74732402
rs901314272
415 P>L No ClinGen
Ensembl
rs1181237457
CA353095574
415 P>T No ClinGen
gnomAD
rs751568161
CA2430684
418 R>C No ClinGen
ExAC
gnomAD
rs550092930
CA74732398
418 R>H No ClinGen
Ensembl
CA2430682
rs762788064
419 Y>C No ClinGen
ExAC
gnomAD
rs201417455
CA2430681
420 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2430680
RCV000959560
rs764944818
421 D>V No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA2430676
rs148578023
423 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353095454
rs148578023
423 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1410273857
COSM4118962
CA353095402
426 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
NCI-TCGA
gnomAD
CA2430674
rs199611737
426 R>H No ClinGen
ExAC
TOPMed
gnomAD
COSM6097956 429 G>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA2430672
rs561203848
COSM731141
429 G>R lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs368350972
CA2430670
431 S>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368350972
CA2430669
431 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353095200
rs1231615025
434 T>I No ClinGen
gnomAD
CA353095190
rs1184457201
435 A>T No ClinGen
gnomAD
CA74732376
rs935650288
436 T>I No ClinGen
TOPMed
CA353095125
CA74732372
rs201448668
437 M>I No ClinGen
TOPMed
gnomAD
CA353095150
rs751720030
437 M>L No ClinGen
ExAC
gnomAD
rs1268506008
CA353095143
437 M>T No ClinGen
gnomAD
CA2430667
rs751720030
437 M>V No ClinGen
ExAC
gnomAD
rs200559631
CA353095109
438 G>A No ClinGen
gnomAD
rs200559631
CA74732370
438 G>E No ClinGen
gnomAD
CA353095115
rs1361760252
438 G>R No ClinGen
gnomAD
COSM5216819
rs1223235663
439 E>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs202223797
CA2430666
441 D>G No ClinGen
ExAC
gnomAD
rs202223797
CA74732367
441 D>V No ClinGen
ExAC
gnomAD
CA74732363
rs200813049
443 G>R No ClinGen
Ensembl
CA353095004
rs1300972125
444 E>K No ClinGen
gnomAD
rs758360470
CA2430664
445 K>N No ClinGen
ExAC
gnomAD
rs200190729
CA2430663
446 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200190729
CA2430662
446 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200190729
CA353094970
446 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353094936
rs1157756109
447 W>* No ClinGen
gnomAD
rs373748615
CA2430659
449 Q>* No ClinGen
ESP
ExAC
gnomAD
rs1473155380
CA353094837
451 G>E No ClinGen
gnomAD
CA2430658
rs760228106
452 D>E No ClinGen
ExAC
gnomAD
COSM1267931
CA2430657
rs146228125
455 P>L oesophagus [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA2430656
rs146228125
455 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353094776
rs1197626645
455 P>S No ClinGen
gnomAD
CA74732350
rs200091521
456 A>P No ClinGen
gnomAD
CA353094770
rs200091521
456 A>T No ClinGen
gnomAD
CA353094752
rs1286320128
457 P>L No ClinGen
gnomAD
CA353094742
rs1258972633
458 V>A No ClinGen
TOPMed
rs1258972633
CA353094740
458 V>G No ClinGen
TOPMed
rs746272802
CA2430653
459 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2430652
rs746272802
459 D>Y No ClinGen
ExAC
gnomAD
rs200543932
CA2430651
461 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1322632187
CA353094710
461 P>S No ClinGen
gnomAD
CA2430650
rs201133673
462 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA353094629
rs1287887590
467 R>S No ClinGen
gnomAD
rs747134694
CA2430649
468 P>A No ClinGen
ExAC
TCGA novel 469 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs777940338
CA2430648
470 C>F No ClinGen
ExAC
gnomAD
CA353094599
rs777940338
470 C>S No ClinGen
ExAC
gnomAD
TCGA novel 472 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs374117701
CA2430647
472 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374117701
CA2430646
472 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA74732336
rs200116400
473 L>F No ClinGen
Ensembl
rs1458231824
CA353094531
474 N>H No ClinGen
gnomAD
rs961242459
CA74732334
474 N>S No ClinGen
Ensembl
CA74732329
rs201773500
481 R>G No ClinGen
TOPMed
gnomAD
COSM2852651
rs200601173
CA2430643
481 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
CA353094384
rs201773500
481 R>W No ClinGen
TOPMed
gnomAD
TCGA novel 484 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs766101387
CA2430642
485 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs750002586
CA2430640
486 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs767076265
CA353094271
486 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs767076265
CA2430639
486 T>S No ClinGen
ExAC
gnomAD
CA2430641
rs750002586
486 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA2430637
rs773966360
487 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA2430636
rs770483581
489 P>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs199540271
CA74732315
491 M>T No ClinGen
Ensembl
rs201649020
CA353094091
493 A>D No ClinGen
gnomAD
CA74732313
rs201649020
493 A>V No ClinGen
gnomAD
CA2430634
rs777140542
496 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1013997109
CA74732306
499 Q>* No ClinGen
TOPMed
gnomAD
CA2430633
rs771161329
499 Q>R No ClinGen
ExAC
gnomAD
rs747281323
CA2430632
500 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs199734250
CA2430631
COSM4734018
502 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2430630
rs201440225
502 R>H No ClinGen
ExAC
gnomAD
CA2430629
rs200224404
504 S>R No ClinGen
ExAC
gnomAD
TCGA novel 505 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1444049124
CA353093716
506 N>S No ClinGen
gnomAD
rs754919914
CA2430627
509 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1488228492
CA353093577
513 N>D No ClinGen
TOPMed
rs1250552274
CA353093559
513 N>S No ClinGen
gnomAD
CA74732289
rs267599888
COSM36649
514 G>S skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA353093527
rs1217818548
514 G>V No ClinGen
TOPMed
rs1577980355
CA353093449
517 F>S No ClinGen
Ensembl
rs1021090913
CA74732287
519 P>L No ClinGen
TOPMed
gnomAD
rs755815220
CA2430624
519 P>S No ClinGen
ExAC
gnomAD
rs1313628899
CA353093300
522 G>S No ClinGen
gnomAD
rs1455049195
CA353093234
524 Q>* No ClinGen
gnomAD
CA353093186
rs1577980341
525 V>G No ClinGen
Ensembl
rs756928475
CA2430621
530 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA353092996
rs1174928876
532 K>E No ClinGen
TOPMed
rs1356528648
CA353092932
535 L>F No ClinGen
gnomAD
CA353092855
rs1383453062
COSM3916361
538 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs141799890
CA2430617
539 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA74732273
rs200585692
542 T>M No ClinGen
gnomAD
rs760989847
CA2430615
545 P>L No ClinGen
ExAC
gnomAD
rs760989847
CA353092658
545 P>R No ClinGen
ExAC
gnomAD
CA74732270
rs905498105
545 P>S No ClinGen
Ensembl
CA74732264
rs947083609
546 R>* No ClinGen
TOPMed
gnomAD
CA2430612
rs17846009
546 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs17846009
CA2430613
COSM1617835
546 R>Q liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1577980271
CA353092497
551 D>A No ClinGen
Ensembl
COSM4926082 551 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774414920
CA2430611
553 S>N No ClinGen
ExAC
gnomAD
rs768678941
CA353092399
555 N>S No ClinGen
ExAC
gnomAD
CA2430610
rs768678941
555 N>T No ClinGen
ExAC
gnomAD
rs749244791
CA2430609
556 S>N No ClinGen
ExAC
gnomAD
rs199885824
CA2430608
557 Q>* No ClinGen
ExAC
gnomAD
CA2430607
rs756045938
558 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745714862
CA2430606
559 F>L No ClinGen
ExAC
gnomAD
rs201896507
CA74732250
560 G>S No ClinGen
Ensembl
CA353092157
rs200059070
564 V>L No ClinGen
TOPMed
gnomAD
CA74732247
rs200059070
COSM1424360
564 V>M Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
COSM3775220 566 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs374460076
CA2430603
568 F>V No ClinGen
ESP
ExAC
gnomAD
CA2430602
rs751217567
569 S>N No ClinGen
ExAC
gnomAD
rs115440379
RCV000884426
CA2430600
571 V>M No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1577980226
CA353091944
573 H>P No ClinGen
Ensembl
CA74732241
rs909740582
573 H>Q No ClinGen
TOPMed
rs752229105
CA2430599
575 R>C No ClinGen
ExAC
gnomAD
CA2430597
rs192701551
575 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs192701551
CA2430598
575 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773459682
CA2430596
576 T>N No ClinGen
ExAC
gnomAD
rs1577980212
CA353091868
576 T>P No ClinGen
Ensembl
rs1438533732
CA353091836
577 L>P No ClinGen
TOPMed
rs767853618
CA2430595
578 R>C No ClinGen
ExAC
gnomAD
rs200751137
CA74732230
578 R>H No ClinGen
TOPMed
rs1577980202
CA353091793
579 H>P No ClinGen
Ensembl
CA353091701
rs1410036819
581 S>I No ClinGen
TOPMed
CA353091669
rs1403421962
583 A>T No ClinGen
TOPMed
rs762049685
CA2430594
584 H>L No ClinGen
ExAC
gnomAD
rs199719397
CA74732228
584 H>Y No ClinGen
TOPMed
gnomAD
COSM1046833 585 N>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA74732223
rs200663962
588 H>N No ClinGen
gnomAD
rs774587357
CA74732219
595 L>R No ClinGen
Ensembl
CA2430589
rs572658072
596 C>R No ClinGen
1000Genomes
ExAC
gnomAD
CA2430588
rs149970781
598 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770800745
CA2430586
599 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1431030598
CA353091051
600 L>P No ClinGen
gnomAD
CA2430583
rs199788447
601 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs200714733
CA2430584
601 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1215245832
CA353091012
602 A>S No ClinGen
TOPMed
rs1206320256
CA353090991
603 L>V No ClinGen
gnomAD
rs778432728
CA2430581
607 G>S No ClinGen
ExAC
gnomAD
rs1203475069
CA353090796
609 A>V No ClinGen
TOPMed
gnomAD
CA353090774
rs1258046481
611 G>S No ClinGen
gnomAD
CA74732201
rs909361016
613 M>I No ClinGen
TOPMed
rs202141288
CA74732195
616 E>A No ClinGen
Ensembl
rs767792206
CA2430578
616 E>K No ClinGen
ExAC
TOPMed
gnomAD
COSM3595887 617 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA353090535
rs1293541461
619 L>F No ClinGen
TOPMed
gnomAD
rs762213729
CA2430577
620 Y>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 621 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs539192498
CA2430575
622 H>R No ClinGen
1000Genomes
ExAC
gnomAD
CA353090369
rs1404073219
624 F>L No ClinGen
gnomAD
rs1481791404
CA353090347
625 Q>R No ClinGen
gnomAD
rs1461180978
CA353090314
626 G>D No ClinGen
gnomAD
rs201860133
CA74732190
626 G>S No ClinGen
1000Genomes
gnomAD
CA2430572
rs202065055
628 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200907891
CA353090269
628 S>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 629 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs34399053
CA2430570
COSM241915
629 G>S prostate [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1217155929
CA353090211
632 W>C No ClinGen
TOPMed
rs1577980076
CA353090142
638 N>T No ClinGen
Ensembl
CA2430567
rs777700511
639 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA353090131
rs777700511
639 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA2430566
rs771867596
639 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747766747
CA2430565
642 T>I No ClinGen
ExAC
gnomAD
rs1577980069
CA353090097
642 T>P No ClinGen
Ensembl
CA353090070
rs1249798745
644 L>P No ClinGen
gnomAD
CA353090036
rs1209417305
647 T>I No ClinGen
TOPMed
rs1577980050
CA353090042
647 T>P No ClinGen
Ensembl
CA2430563
rs754458236
648 L>V No ClinGen
ExAC
gnomAD
CA353090019
rs1314371566
649 R>C No ClinGen
TOPMed
gnomAD
CA353090021
rs1314371566
649 R>G No ClinGen
TOPMed
gnomAD
CA2430562
rs202082899
COSM175135
649 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 649 R>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1314371566
CA353090022
649 R>S No ClinGen
TOPMed
gnomAD
CA74732169
CA353090001
rs201034065
650 N>K No ClinGen
TOPMed
rs1577980034
CA353090007
650 N>T No ClinGen
Ensembl
rs1577980026
CA353089992
651 L>P No ClinGen
Ensembl
rs992280381
CA74732165
653 K>Q No ClinGen
TOPMed
rs150805215
CA2430559
653 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 655 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1046832 656 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs758580734
CA2430557
656 Q>R No ClinGen
ExAC
gnomAD
rs1384070157
CA353089950
657 V>M No ClinGen
gnomAD
CA2430556
rs201883862
659 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA2430555
rs765355058
659 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA2430554
rs759702310
661 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA353086408
rs759702310
661 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs939800947
CA74732158
661 R>H No ClinGen
TOPMed
gnomAD
rs1577979989
CA353086332
664 Y>S No ClinGen
Ensembl
rs766486365
CA2430552
665 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA2430551
rs760634405
666 A>T No ClinGen
ExAC
gnomAD
CA2430550
rs773148312
667 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs200974209
CA2430549
667 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353086256
rs1358414938
670 W>R No ClinGen
gnomAD
rs1559437280
CA353086251
670 W>S No ClinGen
Ensembl
rs1284674932
CA353086209
672 S>T No ClinGen
gnomAD
rs144698131
CA2430547
673 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2430546
rs768160968
674 H>P No ClinGen
ExAC
gnomAD
CA353086171
rs201492068
674 H>Q No ClinGen
ExAC
gnomAD
rs145919121
CA2430544
678 K>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353086078
rs1577979946
681 V>A No ClinGen
Ensembl
CA353086085
rs1466784711
681 V>F No ClinGen
gnomAD
rs757774232
CA2430543
682 L>F No ClinGen
ExAC
gnomAD
CA353086058
rs1470002044
683 D>N No ClinGen
TOPMed
gnomAD
CA353086016
rs1486589254
685 A>T No ClinGen
TOPMed
rs1577979930
CA353085965
687 N>T No ClinGen
Ensembl
rs752974071
CA2430539
690 K>E No ClinGen
ExAC
gnomAD
rs765565816
CA2430538
692 L>P No ClinGen
ExAC
gnomAD
CA353085812
rs1559880670
693 T>I No ClinGen
Ensembl
rs1262275709
CA353085810
694 N>D No ClinGen
TOPMed
CA353085794
rs965741284
694 N>K No ClinGen
TOPMed
gnomAD
TCGA novel 694 N>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs200668101
CA2430537
694 N>S No ClinGen
ExAC
gnomAD
CA2430536
rs753984605
695 G>S No ClinGen
ExAC
gnomAD
rs1195653141
CA353085754
696 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA353085727
rs1577979894
697 L>P No ClinGen
Ensembl
CA353085706
rs1376106057
698 P>L No ClinGen
TOPMed
CA2430535
rs766504452
700 G>D No ClinGen
ExAC
gnomAD
CA74732125
rs868746147
701 T>N No ClinGen
Ensembl
CA74732121
rs1050578753
702 R>Q No ClinGen
TOPMed
gnomAD
CA2430534
rs199773918
702 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353085621
rs1397431776
703 L>F No ClinGen
TOPMed
rs761704908
CA2430531
704 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2430532
COSM2852629
rs145698725
704 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1349946976
CA353085597
705 R>K No ClinGen
gnomAD
CA74732115
rs202130322
705 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA353085580
rs1387020386
707 D>N No ClinGen
gnomAD
CA2430528
rs748833451
708 V>I No ClinGen
ExAC
gnomAD
CA2430527
rs774984770
712 S>G No ClinGen
ExAC
gnomAD
rs1159164136
CA353085462
712 S>N No ClinGen
gnomAD
CA74732111
rs201308500
714 S>T No ClinGen
Ensembl
rs1384245534
CA353085323
715 F>C No ClinGen
TOPMed
CA353085305
rs1479085302
716 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM1424359 719 G>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs375556098
CA353085232
719 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375556098
CA2430524
719 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 724 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA2430521
rs142377483
725 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1013859585
CA74732095
COSM4998904
728 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
Ensembl
NCI-TCGA
CA2430518
rs754077069
729 E>D No ClinGen
ExAC
gnomAD
CA74732093
COSM106782
rs144658278
729 E>K skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1182054900
CA353084870
730 L>F No ClinGen
TOPMed
gnomAD
COSM3775219 731 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA2430516
rs200579725
734 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM4118959
rs200579725
CA2430515
734 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1367791908
CA353084789
735 N>S No ClinGen
TOPMed
gnomAD
rs895456647
COSM1229418
CA74732085
736 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA353084773
rs1158620699
736 A>V No ClinGen
TOPMed
rs761641797
CA2430513
737 L>H No ClinGen
ExAC
TOPMed
gnomAD
rs751383938
CA2430512
738 K>R No ClinGen
ExAC
gnomAD
TCGA novel 739 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 740 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1403448146
CA353084725
742 H>N No ClinGen
gnomAD
COSM3595886 743 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1174999668
CA353084704
744 W>C No ClinGen
gnomAD
rs1414813774
CA353084683
747 P>L No ClinGen
gnomAD
rs1184675036
CA353084677
749 A>T No ClinGen
gnomAD
rs762617367
CA2430509
749 A>V No ClinGen
ExAC
gnomAD
CA2430507
rs148411655
750 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759114677
CA2430506
751 A>D No ClinGen
ExAC
gnomAD
CA2430505
rs776109297
752 L>V No ClinGen
ExAC
gnomAD
CA353084654
rs1559880570
753 Q>K No ClinGen
Ensembl
rs1308470038
CA353084634
756 D>N No ClinGen
TOPMed
TCGA novel 757 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1240920814
CA908071133
759 A>* No ClinGen
TOPMed
rs748541025
CA2430503
759 A>T No ClinGen
ExAC
gnomAD
rs1214449391
CA353084608
759 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs768851453
CA2430501
763 H>Q No ClinGen
ExAC
gnomAD
rs200101208
CA353084573
765 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2430499
rs200101208
765 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2430498
rs756397525
765 A>V No ClinGen
ExAC
gnomAD
CA2430496
rs781072961
766 C>G No ClinGen
ExAC
gnomAD
rs757223362
CA2430495
766 C>Y No ClinGen
ExAC
TOPMed
CA2430493
rs200548286
768 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA353084556
rs1428963616
768 A>P No ClinGen
gnomAD
rs200548286
CA74732056
768 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA353084544
rs1413222625
769 A>D No ClinGen
gnomAD
CA353084552
rs1442838860
769 A>T No ClinGen
gnomAD
COSM3595884 772 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 773 F>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA2430491
rs752486549
775 L>R No ClinGen
ExAC
gnomAD
rs759134825
CA2430489
779 A>P No ClinGen
ExAC
gnomAD
rs759134825
CA2430490
779 A>T No ClinGen
ExAC
gnomAD
rs199915646
CA74732048
780 A>V No ClinGen
Ensembl
rs762409250
CA2430486
781 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA353084266
rs1389913879
783 G>D No ClinGen
TOPMed
gnomAD
COSM1229414
CA2430484
rs769171891
783 G>S Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1311427036
CA353084197
785 P>R No ClinGen
gnomAD
CA74732038
rs988141890
COSM3696179
787 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs780551078
CA2430482
787 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA2430481
rs770152532
788 V>M No ClinGen
ExAC
gnomAD
rs1370997293
CA353084088
789 K>M No ClinGen
gnomAD
CA2430480
rs746020265
790 C>Y No ClinGen
ExAC
gnomAD
CA353083998
rs1456153842
792 S>G No ClinGen
gnomAD
CA353083959
rs1339703035
793 P>L No ClinGen
TOPMed
rs1339703035
CA353083958
793 P>Q No ClinGen
TOPMed
CA2430478
rs371712112
794 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2430477
rs747080983
796 L>V No ClinGen
ExAC
gnomAD
rs199709414
CA74732030
797 Q>H No ClinGen
ExAC
gnomAD
rs752504915
CA2430474
799 L>F No ClinGen
ExAC
gnomAD
rs1254469127
CA353083733
801 I>L No ClinGen
gnomAD
CA74732027
rs925350595
803 A>T No ClinGen
Ensembl
CA2430473
rs201970730
804 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA2430471
rs199768722
807 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs201411213
CA2430469
811 D>N No ClinGen
ExAC
gnomAD
rs772772031
CA2430468
812 E>K No ClinGen
ExAC
gnomAD
CA74732018
rs1014224247
813 A>V No ClinGen
Ensembl
rs1481655033
CA353083296
816 W>* No ClinGen
TOPMed
TCGA novel 817 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA2430467
rs779293320
818 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs200268875
CA2430466
820 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2430465
rs200268875
820 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2430464
rs770242862
822 S>L No ClinGen
ExAC
gnomAD
rs1301069896
CA353083177
825 A>T No ClinGen
TOPMed
CA2430462
rs776759341
825 A>V No ClinGen
ExAC
gnomAD
rs1457994824
CA353083168
826 V>M No ClinGen
gnomAD
rs1374720655
CA353083155
827 A>P No ClinGen
TOPMed
rs1374720655
CA353083156
827 A>T No ClinGen
TOPMed
rs939400923
CA74732004
831 G>A No ClinGen
TOPMed
gnomAD
rs939400923
CA353083100
831 G>V No ClinGen
TOPMed
gnomAD
rs777853295
CA2430459
832 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA353083080
rs1231099314
833 P>T No ClinGen
TOPMed
rs758340283
CA2430458
836 H>Y No ClinGen
ExAC
gnomAD
rs202058288
CA74731996
837 H>Q No ClinGen
Ensembl
TCGA novel 837 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA2430457
rs200635689
837 H>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 845 Y>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA2430455
rs754820202
846 C>W No ClinGen
ExAC
gnomAD
COSM4118957 846 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4818083 848 H>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1269717227
CA353082778
853 W>R No ClinGen
gnomAD
rs201883321
CA2430454
857 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs200200453
CA74731986
857 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs766010083
CA2430453
858 G>R No ClinGen
ExAC
gnomAD
CA353082675
rs1429803971
858 G>V No ClinGen
TOPMed
rs763585272
CA2430450
859 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs763585272
COSM1566700
CA2430449
859 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2430451
rs749912438
859 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA2430448
rs201014855
861 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201014855
CA2430447
861 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2430444
rs148303873
862 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148303873
CA2430443
862 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141461033
CA2430446
CA2430445
862 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM3427733
CA353082535
rs772094857
863 R>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
RCV000956636
VAR_034555
rs5743845
CA2430440
863 R>Q No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA353082510
rs778857260
864 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs778857260
CA2430439
864 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA2430438
rs768630458
865 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA353082461
rs779837834
866 D>H No ClinGen
ExAC
gnomAD
rs779837834
CA2430436
866 D>N No ClinGen
ExAC
gnomAD
CA353082380
rs1198423186
869 P>A No ClinGen
gnomAD
CA2430434
rs755749895
869 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1235260637
CA353082309
871 D>N No ClinGen
gnomAD
rs756875974
CA2430432
872 A>D No ClinGen
ExAC
gnomAD
rs756875974
CA353082271
872 A>G No ClinGen
ExAC
gnomAD
rs201627440
CA2430430
874 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1395708601
CA353082147
877 D>N No ClinGen
gnomAD
rs1403302593
CA353082114
878 K>R No ClinGen
gnomAD
CA353082087
rs148993494
879 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148993494
CA2430426
879 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148993494
CA2430427
879 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353082025
rs200817942
881 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs5743846
VAR_052365
CA2430423
882 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
UniProt
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs1184911795
CA353081947
885 D>E No ClinGen
gnomAD
CA353081954
rs1391526951
885 D>G No ClinGen
gnomAD
COSM6097957 886 W>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1559880393
CA353081901
887 V>M No ClinGen
Ensembl
CA2430420
rs749180201
890 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs779742290
CA2430419
891 L>F No ClinGen
ExAC
gnomAD
COSM3696178 892 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1325467536
COSM264065
CA353081758
892 R>W Variant assessed as Somatic; MODERATE impact. pancreas large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
rs1371871166
CA353081711
893 G>A No ClinGen
TOPMed
CA353081730
CA2430418
rs769582714
893 G>R No ClinGen
ExAC
gnomAD
rs1015130073
CA74731758
898 C>S No ClinGen
Ensembl
rs781058107
CA2430416
899 R>C No ClinGen
ExAC
gnomAD
CA2430415
COSM1670241
rs756957650
899 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
COSM1229417
CA2430414
rs751129636
901 R>C Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
VAR_036077
COSM33465
rs755472700
CA2430412
901 R>H large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs755472700
CA2430413
901 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA353081467
rs751129636
901 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs200216998
CA74731737
902 W>* No ClinGen
gnomAD
TCGA novel 903 A>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA353081424
rs1370388414
903 A>T No ClinGen
gnomAD
CA2430411
COSM5822156
rs199785727
905 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
CA2430410
COSM271704
rs376675219
905 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 906 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1397950607
CA353081329
907 C>R No ClinGen
gnomAD
CA2430409
rs761146594
911 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM1424356 911 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs996977969
COSM1046829
CA74731730
912 D>N Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs201790525
CA74731724
916 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs369271245
CA74731713
917 K>R No ClinGen
ESP
TOPMed
CA74731709
rs1019831022
918 T>I No ClinGen
TOPMed
rs762819270
CA2430404
919 L>F No ClinGen
ExAC
gnomAD
CA2430403
rs762819270
919 L>V No ClinGen
ExAC
gnomAD
CA353080953
rs200791761
925 A>G No ClinGen
TOPMed
gnomAD
CA74731698
rs200791761
925 A>V No ClinGen
TOPMed
gnomAD
rs775545937
CA2430402
926 S>L No ClinGen
ExAC
gnomAD
rs202055087
CA74731689
927 V>I No ClinGen
gnomAD
rs776511982
CA2430399
930 S>G No ClinGen
ExAC
gnomAD
rs1350213511
CA353080797
930 S>N No ClinGen
gnomAD
rs201146442
COSM2852616
CA74731675
931 R>C pancreas [Cosmic] No ClinGen
cosmic curated
Ensembl
rs201071010
CA2430398
931 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2430397
rs746622200
COSM33147
VAR_036078
933 T>M large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
ExAC
TOPMed
dbSNP
gnomAD
CA2430394
rs747584295
935 F>L No ClinGen
ExAC
gnomAD
rs780682624
CA2430393
936 V>M No ClinGen
ExAC
gnomAD
CA74731658
rs202053090
938 A>D No ClinGen
Ensembl
rs1410887458
CA353080534
939 H>Q No ClinGen
gnomAD
CA2430391
rs201197940
940 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751729676
CA2430388
942 R>Q No ClinGen
ExAC
gnomAD
CA2430389
rs544128726
942 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA353080473
rs1292157790
943 V>I No ClinGen
gnomAD
rs936600036
CA74731644
944 S>G No ClinGen
Ensembl
CA74731641
rs1019590992
945 G>C No ClinGen
Ensembl
CA353080432
rs1328769300
945 G>D No ClinGen
gnomAD
COSM4933341 945 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA2430386
rs763133045
946 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA353080415
rs1343384382
946 L>P No ClinGen
gnomAD
CA74731622
COSM3783735
rs369679861
948 R>C prostate [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs369679861
CA353080391
948 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201739665
CA2430384
948 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2430385
rs369679861
948 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2430382
rs776600993
949 A>T No ClinGen
ExAC
gnomAD
CA353080363
rs1387454897
949 A>V No ClinGen
gnomAD
rs1422851190
CA353080278
954 A>G No ClinGen
gnomAD
rs1577979350
CA353080284
954 A>S No ClinGen
Ensembl
rs771623304
CA2430378
960 E>D No ClinGen
ExAC
gnomAD
COSM3595882 960 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs55881257
CA2430377
962 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201773280
CA2430375
962 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201773280
CA2430376
962 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 963 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3595881 964 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA2430373
rs183735837
965 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1304904381
CA353080012
969 V>A No ClinGen
gnomAD
CA2430371
rs751838801
969 V>M No ClinGen
ExAC
gnomAD
CA353079973
rs1418858521
972 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1559880264
CA353079954
973 P>L No ClinGen
Ensembl
rs55846319
CA2430367
975 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs55846319
CA2430368
975 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2430366
rs201076939
976 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs776761731
CA2430365
COSM1734822
976 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA353079913
rs201076939
976 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA2430364
rs375003304
977 R>C No ClinGen
ESP
ExAC
gnomAD
CA353079864
rs1396810210
977 R>H No ClinGen
gnomAD
CA2430363
rs760617877
979 R>C No ClinGen
ExAC
gnomAD
rs200209731
CA2430362
979 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1414552763
CA353079796
981 V>M No ClinGen
TOPMed
rs773946672
CA2430359
982 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs142806370
COSM4118955
CA2430360
982 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs140585419
CA2430358
984 R>C No ClinGen
ESP
ExAC
gnomAD
CA2430357
rs748775653
984 R>H No ClinGen
ExAC
gnomAD
COSM3974485 984 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3595880 985 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA2430356
rs781694343
986 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1019357651
CA74731541
986 R>H No ClinGen
TOPMed
CA353079660
rs1340800121
987 L>F No ClinGen
gnomAD
COSM4118953
CA2430355
rs747414072
989 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201478487
CA2430353
989 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353079599
rs201478487
989 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM2152900
rs747414072
CA2430354
989 R>S Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1283307998
CA353079577
990 Q>* No ClinGen
gnomAD
CA2430351
rs752812185
990 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA74731529
rs200488254
990 Q>R No ClinGen
Ensembl
CA2430350
rs779252979
991 S>I No ClinGen
ExAC
gnomAD
rs1486529388
CA353079526
991 S>R No ClinGen
TOPMed
CA353079520
rs1306072174
992 V>L No ClinGen
gnomAD
rs1371188266
CA353079395
996 P>T No ClinGen
gnomAD
CA353079360
rs1577979246
997 H>Y No ClinGen
Ensembl
rs1422209553
CA353079327
998 Q>* No ClinGen
gnomAD
rs892288735
CA74731514
999 P>S No ClinGen
gnomAD
rs202060477
CA74731508
1000 S>G No ClinGen
Ensembl
CA353079269
rs1290763697
1000 S>N No ClinGen
gnomAD
CA2430345
rs376972467
1001 G>A No ClinGen
ESP
ExAC
gnomAD
TCGA novel 1002 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs200911364
CA74731503
1003 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs200136984
CA2430344
1003 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA353079161
rs1206004314
1004 S>R No ClinGen
gnomAD
rs1251316202
CA353079169
1004 S>T No ClinGen
gnomAD
CA74731492
rs946743122
1007 A>S No ClinGen
TOPMed
rs200965458
CA2430342
1008 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353078975
rs1398517138
1011 M>T No ClinGen
TOPMed
rs199839624
CA74731485
1011 M>V No ClinGen
TOPMed
rs201853430
CA2430340
1015 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs555536034
CA74731481
1015 R>S No ClinGen
Ensembl
CA353078874
rs201853430
1015 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA74731478
rs533787193
1016 D>E No ClinGen
gnomAD
rs1351034672
CA353078769
1018 H>N No ClinGen
gnomAD
rs762518214
CA2430338
1023 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2430339
rs200896211
1023 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs774968315
CA2430337
1026 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA2430336
rs771432576
1029 P>L No ClinGen
ExAC
gnomAD
rs148852303
CA2430334
1030 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2430335
rs148852303
1030 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2430330
rs144798707
1032 E>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2430331
rs144798707
1032 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD

No associated diseases with Q9NR96

No regional properties for Q9NR96

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9NR96

Functions

Description
EC Number
Subcellular Localization
  • Endoplasmic reticulum membrane ; Single-pass type I membrane protein
  • Early endosome membrane
  • Lysosome
  • Cytoplasmic vesicle, phagosome
  • Golgi apparatus membrane
  • Relocalizes from endoplasmic reticulum to endosome and lysosome upon stimulation with agonist
  • Exit from the ER requires UNC93B1
  • Endolysosomal localization is required for proteolytic cleavage and subsequent activation
  • Intracellular localization of the active receptor may prevent from responding to self nucleic acid
PANTHER Family PTHR47410 TOLL-LIKE RECEPTOR 7-RELATED
PANTHER Subfamily PTHR47410:SF3 TOLL-LIKE RECEPTOR 9
PANTHER Protein Class transmembrane signal receptor
PANTHER Pathway Category Toll receptor signaling pathway
TLR

14 GO annotations of cellular component

Name Definition
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
basolateral plasma membrane The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
early phagosome A membrane-bounded intracellular vesicle as initially formed upon the ingestion of particulate material by phagocytosis.
endolysosome An transient hybrid organelle formed by fusion of a late endosome with a lysosome, and in which active degradation takes place.
endolysosome membrane The lipid bilayer surrounding an endolysosome. An endolysosome is a transient hybrid organelle formed by fusion of a late endosome with a lysosome.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
endosome A vacuole to which materials ingested by endocytosis are delivered.
endosome membrane The lipid bilayer surrounding an endosome.
extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
lysosome A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name Definition
interleukin-1 receptor binding Binding to an interleukin-1 receptor.
pattern recognition receptor activity Combining with a pathogen-associated molecular pattern (PAMP), a structure conserved among microbial species to initiate an innate immune response.
protein homodimerization activity Binding to an identical protein to form a homodimer.
siRNA binding Binding to a small interfering RNA, a 21-23 nucleotide RNA that is processed from double stranded RNA (dsRNA) by an RNAse enzyme.
unmethylated CpG binding Binding to uan nmethylated CpG motif. Unmethylated CpG dinucleotides are often associated with gene promoters.

46 GO annotations of biological process

Name Definition
cellular response to chloroquine 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 chloroquine stimulus.
cellular response to lipopolysaccharide 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 lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
cellular response to metal ion 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 metal ion stimulus.
defense response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism.
defense response to Gram-negative bacterium Reactions triggered in response to the presence of a Gram-negative bacterium that act to protect the cell or organism.
defense response to virus Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
detection of molecule of bacterial origin The series of events in which a stimulus from a molecule of bacterial origin is received and converted into a molecular signal.
I-kappaB kinase/NF-kappaB signaling The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
maintenance of gastrointestinal epithelium Protection of epithelial surfaces of the gastrointestinal tract from proteolytic and caustic digestive agents.
male gonad development The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure.
microglial cell activation The change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.
MyD88-dependent toll-like receptor signaling pathway A toll-like receptor signaling pathway in which the MyD88 adaptor molecule mediates transduction of the signal. Toll-like receptors directly bind pattern motifs from a variety of microbial sources to initiate an innate immune response.
negative regulation of ATPase-coupled calcium transmembrane transporter activity Any process that stops, prevents or reduces the frequency, rate or extent of an ATPase-coupled calcium transmembrane transporter activity.
negative regulation of ERK1 and ERK2 cascade Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of autophagy Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
positive regulation of B cell activation Any process that activates or increases the frequency, rate or extent of B cell activation.
positive regulation of B cell proliferation Any process that activates or increases the rate or extent of B cell proliferation.
positive regulation of chemokine production Any process that activates or increases the frequency, rate, or extent of chemokine production.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of granulocyte macrophage colony-stimulating factor production Any process that activates or increases the frequency, rate, or extent of granulocyte macrophage colony-stimulating factor production.
positive regulation of I-kappaB kinase/NF-kappaB signaling Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.
positive regulation of immunoglobulin production Any process that activates or increases the frequency, rate, or extent of immunoglobulin production.
positive regulation of inflammatory response Any process that activates or increases the frequency, rate or extent of the inflammatory response.
positive regulation of interferon-alpha production Any process that activates or increases the frequency, rate, or extent of interferon-alpha production.
positive regulation of interferon-beta production Any process that activates or increases the frequency, rate, or extent of interferon-beta production.
positive regulation of interleukin-10 production Any process that activates or increases the frequency, rate, or extent of interleukin-10 production.
positive regulation of interleukin-12 production Any process that activates or increases the frequency, rate, or extent of interleukin-12 production.
positive regulation of interleukin-18 production Any process that activates or increases the frequency, rate, or extent of interleukin-18 production.
positive regulation of interleukin-6 production Any process that activates or increases the frequency, rate, or extent of interleukin-6 production.
positive regulation of interleukin-8 production Any process that activates or increases the frequency, rate, or extent of interleukin-8 production.
positive regulation of intestinal epithelial cell development Any process that activates or increases the frequency, rate or extent of intestinal epithelial cell development.
positive regulation of JNK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of MAPK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of NF-kappaB transcription factor activity Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB.
positive regulation of NIK/NF-kappaB signaling Any process that activates or increases the frequency, rate or extent of NIK/NF-kappaB signaling.
positive regulation of toll-like receptor 9 signaling pathway Any process that activates or increases the frequency, rate, or extent of toll-like receptor 9 signaling pathway.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of tumor necrosis factor production Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production.
positive regulation of type II interferon production Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.
regulation of B cell differentiation Any process that modulates the frequency, rate or extent of B cell differentiation.
regulation of dendritic cell cytokine production Any process that modulates the frequency, rate, or extent of dendritic cell cytokine production.
regulation of protein phosphorylation Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein.
regulation of toll-like receptor 9 signaling pathway Any process that modulates the frequency, rate, or extent of toll-like receptor 9 signaling pathway.
toll-like receptor 9 signaling pathway The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 9.
toll-like receptor signaling pathway The series of molecular signals initiated by a ligand binding to a toll-like receptor of a target cell. Toll-like receptors directly bind pattern motifs from a variety of microbial sources to initiate an innate immune response.

11 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5I2M5 TLR9 Toll-like receptor 9 Bos taurus (Bovine) SS
Q5I2M7 TLR9 Toll-like receptor 9 Felis catus (Cat) (Felis silvestris catus) SS
Q5I2M8 TLR9 Toll-like receptor 9 Canis lupus familiaris (Dog) (Canis familiaris) SS
P08953 Tl Protein toll Drosophila melanogaster (Fruit fly) PR
Q2EEY0 TLR9 Toll-like receptor 9 Equus caballus (Horse) SS
Q9NR97 TLR8 Toll-like receptor 8 Homo sapiens (Human) EV
Q9NYK1 TLR7 Toll-like receptor 7 Homo sapiens (Human) EV
P58681 Tlr7 Toll-like receptor 7 Mus musculus (Mouse) SS
Q9EQU3 Tlr9 Toll-like receptor 9 Mus musculus (Mouse) SS
Q5I2M3 TLR9 Toll-like receptor 9 Sus scrofa (Pig) SS
A5H2Z9 Tlr7 Toll-like receptor 7 Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MGFCRSALHP LSLLVQAIML AMTLALGTLP AFLPCELQPH GLVNCNWLFL KSVPHFSMAA
70 80 90 100 110 120
PRGNVTSLSL SSNRIHHLHD SDFAHLPSLR HLNLKWNCPP VGLSPMHFPC HMTIEPSTFL
130 140 150 160 170 180
AVPTLEELNL SYNNIMTVPA LPKSLISLSL SHTNILMLDS ASLAGLHALR FLFMDGNCYY
190 200 210 220 230 240
KNPCRQALEV APGALLGLGN LTHLSLKYNN LTVVPRNLPS SLEYLLLSYN RIVKLAPEDL
250 260 270 280 290 300
ANLTALRVLD VGGNCRRCDH APNPCMECPR HFPQLHPDTF SHLSRLEGLV LKDSSLSWLN
310 320 330 340 350 360
ASWFRGLGNL RVLDLSENFL YKCITKTKAF QGLTQLRKLN LSFNYQKRVS FAHLSLAPSF
370 380 390 400 410 420
GSLVALKELD MHGIFFRSLD ETTLRPLARL PMLQTLRLQM NFINQAQLGI FRAFPGLRYV
430 440 450 460 470 480
DLSDNRISGA SELTATMGEA DGGEKVWLQP GDLAPAPVDT PSSEDFRPNC STLNFTLDLS
490 500 510 520 530 540
RNNLVTVQPE MFAQLSHLQC LRLSHNCISQ AVNGSQFLPL TGLQVLDLSH NKLDLYHEHS
550 560 570 580 590 600
FTELPRLEAL DLSYNSQPFG MQGVGHNFSF VAHLRTLRHL SLAHNNIHSQ VSQQLCSTSL
610 620 630 640 650 660
RALDFSGNAL GHMWAEGDLY LHFFQGLSGL IWLDLSQNRL HTLLPQTLRN LPKSLQVLRL
670 680 690 700 710 720
RDNYLAFFKW WSLHFLPKLE VLDLAGNQLK ALTNGSLPAG TRLRRLDVSC NSISFVAPGF
730 740 750 760 770 780
FSKAKELREL NLSANALKTV DHSWFGPLAS ALQILDVSAN PLHCACGAAF MDFLLEVQAA
790 800 810 820 830 840
VPGLPSRVKC GSPGQLQGLS IFAQDLRLCL DEALSWDCFA LSLLAVALGL GVPMLHHLCG
850 860 870 880 890 900
WDLWYCFHLC LAWLPWRGRQ SGRDEDALPY DAFVVFDKTQ SAVADWVYNE LRGQLEECRG
910 920 930 940 950 960
RWALRLCLEE RDWLPGKTLF ENLWASVYGS RKTLFVLAHT DRVSGLLRAS FLLAQQRLLE
970 980 990 1000 1010 1020
DRKDVVVLVI LSPDGRRSRY VRLRQRLCRQ SVLLWPHQPS GQRSFWAQLG MALTRDNHHF
1030
YNRNFCQGPT AE