Descriptions

Myosin-7 (MYH7, also named Myosin heavy chain, cardiac muscle β isoform) is an actin-based motor molecule with ATPase activity essential for muscle contraction. Several mutations in MYH7 are frequent causes of hypertrophic cardiomyopathy (HCM), a disease characterized by hypercontractility and eventual hypertrophy of the left ventricle. Many HCM-causing mutations appear to reduce myosin's ability to form an autoinhibited state. In an autoinhibited state, the myosin heads fold back onto their own subfragment 2 (S2) tail in a conformation known as the interacting heads motif (IHM). One of the two heads in the dimer has its actin-binding interface buried in the folded structure; this head is referred to as the blocked head, while the other is called the free head, since its actin-binding interface is not hidden structurally. Many myosin types have the folded back IHM structure. The IHM structure correlates to an ultra-low basal ATPase rate in the absence of an action called the 'super relaxed state'. Heads lacking the S2 tail mostly have a faster basal ATPase rate referred to as the 'disordered relaxed state'. Especially, mutations in the myosin lever arm or the pliant region of the lever arm can affect myosin function either by altering its intrinsic motor activity, and/or reducing its ability to form the autoinhibited state.

Autoinhibitory domains (AIDs)

Target domain

80-783 (Myosin head, motor domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for P12882

Entry ID Method Resolution Chain Position Source
AF-P12882-F1 Predicted AlphaFoldDB

2321 variants for P12882

Variant ID(s) Position Change Description Diseaes Association Provenance
rs760814306
RCV002555966
RCV001093237
55 R>G Inborn genetic diseases [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs369367267 4 D>N No ESP
ExAC
TOPMed
gnomAD
COSM3513898 6 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs769435909 7 M>L No ExAC
TOPMed
gnomAD
rs146363375 7 M>T No ESP
ExAC
gnomAD
rs953538402 8 A>T No TOPMed
rs1315177607 8 A>V No TOPMed
gnomAD
rs1378179323 10 F>I No gnomAD
rs1567724048 10 F>S No Ensembl
rs1282155033 11 G>R No TOPMed
gnomAD
rs2073232228 12 E>K No Ensembl
rs754932067 13 A>P No ExAC
TOPMed
gnomAD
rs754932067 13 A>T No ExAC
TOPMed
gnomAD
rs1361044268
COSM1135870
13 A>V kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs2073232056 14 A>S No Ensembl
rs2073232025 14 A>V No TOPMed
gnomAD
rs751498075 15 P>S No ExAC
TOPMed
gnomAD
rs2073231961 17 L>P No Ensembl
COSM3771261
rs149414197
18 R>* pancreas [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs138934137 18 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2073231768 20 S>P No Ensembl
rs781018519 22 R>K No ExAC
gnomAD
rs762025820 22 R>S No ExAC
TOPMed
gnomAD
rs753873395 23 E>* No ExAC
gnomAD
COSM6080125 23 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs201854401
COSM162710
24 R>* breast [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs61730792 24 R>P No ESP
ExAC
TOPMed
gnomAD
rs61730792
COSM225380
24 R>Q NS [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs772613952 25 I>M No ExAC
TOPMed
gnomAD
rs142020114 25 I>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760000514
COSM975328
26 E>K Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1438821864 27 A>T No TOPMed
rs1271071582 27 A>V No gnomAD
rs774735806 28 Q>H No ExAC
TOPMed
gnomAD
rs2073231380 30 K>T No TOPMed
rs548462024 31 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs373514983 32 F>S No ESP
ExAC
TOPMed
gnomAD
rs780635089 36 T>I No ExAC
TOPMed
gnomAD
COSM3889252 37 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073231096 38 V>A No TOPMed
rs2073231096 38 V>D No TOPMed
rs1172349606 38 V>L No gnomAD
rs1345474273 42 D>N No TOPMed
gnomAD
rs747001035 42 D>V No ExAC
TOPMed
gnomAD
rs1452866858 43 P>A No TOPMed
TCGA novel 43 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs779992111 45 E>K No ExAC
gnomAD
rs758295319 46 S>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs758295319 46 S>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs146933070
COSM3728177
47 F>S haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs146933070 47 F>Y No ESP
ExAC
TOPMed
gnomAD
rs1174712504 48 V>E No TOPMed
gnomAD
rs2073230749 49 K>R No TOPMed
rs1200743630 50 A>T No gnomAD
rs2073230674 50 A>V No Ensembl
rs764120209 51 T>R No ExAC
gnomAD
rs765214833 52 V>L No gnomAD
rs1414711341 53 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1382816426 56 E>K No TOPMed
gnomAD
rs200550531 57 G>A No ExAC
TOPMed
gnomAD
rs200550531 57 G>E No ExAC
TOPMed
gnomAD
rs1023875526 57 G>R No gnomAD
rs200550531 57 G>V No ExAC
TOPMed
gnomAD
rs1023875526 57 G>W No gnomAD
rs760064167 58 G>R No ExAC
COSM5639311
rs1177807589
59 K>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs771323354 60 V>L No ExAC
gnomAD
rs761412998 61 T>I No ExAC
gnomAD
rs776328776 62 A>T No ExAC
TOPMed
rs768253125 63 K>E No ExAC
TOPMed
rs1438973586 63 K>R No Ensembl
rs777670733 65 E>A No ExAC
TOPMed
gnomAD
COSM173999
rs544824288
65 E>K Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
TCGA novel 68 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs190884510 68 A>T No 1000Genomes
TOPMed
rs2073228920 69 T>A No TOPMed
rs1422942762 69 T>I No TOPMed
gnomAD
rs143844924 70 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760265363 76 Q>H No ExAC
TOPMed
gnomAD
COSM417200 76 Q>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1051892254 77 V>G No Ensembl
rs534756197 79 P>A No 1000Genomes
TOPMed
gnomAD
rs771563484 79 P>H No ExAC
gnomAD
rs534756197 79 P>S No 1000Genomes
TOPMed
gnomAD
rs770723956 80 M>K No ExAC
gnomAD
rs745829180 80 M>L No ExAC
gnomAD
rs770723956 80 M>T No ExAC
gnomAD
rs745829180 80 M>V No ExAC
gnomAD
rs2073228537 81 N>K No gnomAD
rs1342180696 82 P>A No TOPMed
gnomAD
rs749137848 82 P>R No ExAC
gnomAD
rs1277469486 83 P>S No gnomAD
rs756464905 84 K>R No ExAC
gnomAD
rs748378011 85 Y>C No ExAC
gnomAD
COSM283011
rs2073228244
87 K>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1300548626 88 I>S No gnomAD
rs755063823 89 E>K No ExAC
TOPMed
gnomAD
rs1157054699 90 D>Y No TOPMed
gnomAD
rs947251793 91 M>V No TOPMed
gnomAD
rs2073228018 92 A>S No TOPMed
TCGA novel 92 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM401678
rs751548269
93 M>I Variant assessed as Somatic; MODERATE impact. lung breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
gnomAD
rs941478033 94 M>T No TOPMed
gnomAD
rs766943774 95 T>S No ExAC
TOPMed
gnomAD
rs2073227777 97 L>V No Ensembl
rs61739660 98 H>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM6145605 99 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2142282260 99 E>G No Ensembl
COSM3969805
rs988594695
99 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs201260086 100 P>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs201260086
COSM1520139
100 P>S lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201260086 100 P>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs760383904 101 A>P No ExAC
TOPMed
gnomAD
rs760383904 101 A>T No ExAC
TOPMed
gnomAD
rs1356545876 102 V>M No gnomAD
rs187270597 103 L>P No 1000Genomes
ExAC
gnomAD
rs2073227278 104 Y>* No gnomAD
rs1280726981 104 Y>H No gnomAD
rs759108818 105 N>I No ExAC
TOPMed
gnomAD
rs759108818 105 N>S No ExAC
TOPMed
gnomAD
rs1316255699 106 L>F No TOPMed
gnomAD
rs1848014597 106 L>P No Ensembl
COSM705105
rs969846141
107 K>R lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs773693120 108 E>G No ExAC
gnomAD
COSM975325
rs374097415
109 R>C Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762739182 109 R>H No ExAC
TOPMed
gnomAD
rs762739182 109 R>L No ExAC
TOPMed
gnomAD
rs769682510 111 A>T No ExAC
TOPMed
gnomAD
RCV001093236
rs759178467
112 A>D No ClinVar
TOPMed
dbSNP
gnomAD
rs759178467 112 A>V No TOPMed
gnomAD
rs2073226482 113 W>* No Ensembl
rs372428243 113 W>C No ESP
ExAC
TOPMed
gnomAD
COSM293962
rs768724975
116 Y>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs2142282139 116 Y>C No Ensembl
rs765274101 117 T>S No ExAC
TOPMed
gnomAD
rs2073224171 119 S>L No TOPMed
rs2073224201 119 S>P No Ensembl
rs1046271569 120 G>A No TOPMed
gnomAD
rs1046271569 120 G>V No TOPMed
gnomAD
rs2142281913 121 L>F No Ensembl
TCGA novel 122 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1231467730 122 F>Y No gnomAD
rs1486257262 123 C>S No TOPMed
gnomAD
rs1486257262 123 C>Y No TOPMed
gnomAD
rs576935532 124 V>A No ExAC
TOPMed
gnomAD
rs576935532 124 V>D No ExAC
TOPMed
gnomAD
COSM975324 126 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3402592 127 N>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772228098 127 N>K No ExAC
gnomAD
rs775550371 127 N>S No ExAC
TOPMed
gnomAD
rs775550371 127 N>T No ExAC
TOPMed
gnomAD
rs1224516046 128 P>L No TOPMed
gnomAD
rs745974757 128 P>S No ExAC
gnomAD
rs749781453 131 W>* No ExAC
TOPMed
gnomAD
rs1448714410 131 W>* No gnomAD
rs749781453 131 W>L No ExAC
TOPMed
gnomAD
rs2073223743 131 W>R No TOPMed
gnomAD
rs575549959 132 L>F No 1000Genomes
ExAC
gnomAD
rs758060974 134 V>A No ExAC
gnomAD
rs758060974 134 V>E No ExAC
gnomAD
rs748496920 134 V>L No ExAC
TOPMed
gnomAD
rs764830363 136 N>K No ExAC
TOPMed
gnomAD
rs938504818 136 N>Y No TOPMed
rs1269740449 139 V>L No TOPMed
rs1269740449 139 V>M No TOPMed
TCGA novel 141 T>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1220782392 142 A>D No TOPMed
gnomAD
rs1220782392 142 A>G No TOPMed
gnomAD
COSM3513893 142 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2142281803 143 Y>H No Ensembl
rs757334606 144 R>* No ExAC
TOPMed
gnomAD
rs753684645 144 R>L No ExAC
TOPMed
gnomAD
COSM3513892
rs753684645
144 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2073222857 146 K>* No Ensembl
rs2073222820 147 K>N No TOPMed
COSM975323 147 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1737800
rs201587697
148 R>C central_nervous_system [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs542085416
COSM975322
148 R>H endometrium [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs542085416 148 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1159789095 149 Q>R No TOPMed
rs1489348825 150 E>K No gnomAD
rs767731312 151 A>D No ExAC
TOPMed
gnomAD
rs767731312 151 A>G No ExAC
TOPMed
gnomAD
rs2073222698 151 A>S No TOPMed
rs767731312
COSM975321
151 A>V Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774469687 153 P>S No ExAC
TOPMed
gnomAD
rs774469687 153 P>T No ExAC
TOPMed
gnomAD
rs770993051 154 H>R No ExAC
TOPMed
gnomAD
rs1354569192 155 I>F No TOPMed
gnomAD
rs1291436390 155 I>N No gnomAD
rs1354569192 155 I>V No TOPMed
gnomAD
rs1345748585 157 S>T No TOPMed
rs1340609973 157 S>Y No gnomAD
rs2073222277 158 I>T No gnomAD
rs2073222312 158 I>V No gnomAD
COSM1380801 159 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM6080128 160 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1404002552 163 Y>C No TOPMed
gnomAD
rs2073222186 164 Q>* No Ensembl
rs1283004277 164 Q>H No TOPMed
COSM975320 165 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs144235267 165 F>Y No ESP
ExAC
TOPMed
gnomAD
rs748467306 166 M>K No ExAC
rs1165006953 167 L>P No gnomAD
COSM3889251 168 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1597444369 168 T>N No Ensembl
rs2073210069 169 D>E No Ensembl
rs547827371 169 D>G No 1000Genomes
ExAC
gnomAD
COSM6145607 169 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs769113864 170 R>G No ExAC
TOPMed
gnomAD
rs745562169 170 R>L No ExAC
TOPMed
gnomAD
rs745562169 170 R>Q No ExAC
TOPMed
gnomAD
COSM4497934
rs769113864
170 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2073209930 171 E>* No TOPMed
rs778727805 171 E>A No ExAC
TOPMed
gnomAD
COSM3513888 173 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs907225050 173 Q>K No TOPMed
gnomAD
COSM6145608 174 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756063118 175 I>L No ExAC
TOPMed
gnomAD
rs573461176 175 I>T No Ensembl
rs2073209627 176 L>F No TOPMed
rs1233154268
COSM5937732
177 I>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs112621883 178 T>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs139608801 178 T>I No ESP
ExAC
TOPMed
gnomAD
rs779814264 179 G>* No ExAC
TOPMed
gnomAD
rs998434018 179 G>E No Ensembl
COSM4063854
rs779814264
179 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM975319 180 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1567723111 180 E>G No Ensembl
rs2073201891 181 S>C No gnomAD
rs758617436 181 S>T No ExAC
TOPMed
gnomAD
COSM3691326 181 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 182 G>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs374196346 183 A>S No ESP
ExAC
TOPMed
gnomAD
rs374196346
COSM385431
183 A>T lung [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1425314653 184 G>A No gnomAD
COSM705106 184 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1221578380 184 G>R No gnomAD
rs2073201545 186 T>I No Ensembl
rs1484407559 188 N>S No gnomAD
rs753924973 189 T>I No ExAC
gnomAD
rs144345763 191 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144345763 191 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1349456975 191 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1349456975 191 R>P No TOPMed
gnomAD
rs1231030850 193 I>F No TOPMed
rs1350794728 193 I>M No TOPMed
rs761203055 194 Q>* No ExAC
TOPMed
gnomAD
rs776053827 194 Q>H No ExAC
TOPMed
gnomAD
rs761203055 194 Q>K No ExAC
TOPMed
gnomAD
rs767917291 195 Y>* No ExAC
gnomAD
rs1052063759 196 F>V No TOPMed
gnomAD
rs895590730 199 I>T No TOPMed
gnomAD
rs772898629 199 I>V No ExAC
TOPMed
gnomAD
rs1320310404 200 A>G No TOPMed
gnomAD
rs2073200727 202 T>A No Ensembl
rs2073200700 202 T>I No TOPMed
TCGA novel 202 T>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1462883648 203 G>E No gnomAD
rs769291293 203 G>R No ExAC
gnomAD
COSM705107 203 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776064241 204 E>D No ExAC
TOPMed
gnomAD
TCGA novel 206 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1474157885 206 K>N No TOPMed
gnomAD
rs1243379674 207 K>E No gnomAD
rs1193327868 207 K>R No gnomAD
rs2073200158 210 V>A No Ensembl
rs924871375 210 V>I No gnomAD
rs745604359 215 M>K No ExAC
TOPMed
gnomAD
rs745604359 215 M>R No ExAC
TOPMed
gnomAD
rs1356055028 217 G>E No gnomAD
rs1438513665 217 G>R No gnomAD
COSM1380800 218 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073198304 218 T>P No Ensembl
rs1393718226 219 L>V No gnomAD
TCGA novel 220 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs543036753 221 D>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs1763291384 225 S>G No TOPMed
TCGA novel 226 A>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1246294000 227 N>K No TOPMed
rs1191357079 227 N>S No gnomAD
rs2073197932 228 P>L No TOPMed
rs2073197932 228 P>R No TOPMed
rs1266350646 228 P>S No TOPMed
COSM1380799 229 L>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 231 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 231 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs778512147 232 A>D No ExAC
TOPMed
gnomAD
COSM3421278
rs1234901085
232 A>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs778512147 232 A>V No ExAC
TOPMed
gnomAD
rs1273073230 233 F>C No TOPMed
gnomAD
rs1273073230 233 F>S No TOPMed
gnomAD
rs572348018 235 N>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs778037134 236 A>T No ExAC
TOPMed
gnomAD
rs2073197437 236 A>V No TOPMed
rs2142279383 238 T>P No Ensembl
rs962798304 239 V>L No TOPMed
gnomAD
rs962798304 239 V>M No TOPMed
gnomAD
rs1314619986 242 D>G No TOPMed
gnomAD
rs755383568 242 D>N No ExAC
gnomAD
rs1465088250 243 N>S No TOPMed
TCGA novel 243 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs374202732
COSM3513887
246 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761496068 246 R>H No ExAC
TOPMed
gnomAD
rs184529840 247 F>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs750749644 249 K>R No ExAC
TOPMed
gnomAD
rs188028622 250 F>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs752307837 251 I>V No ExAC
TOPMed
gnomAD
rs759557062 252 R>S No ExAC
gnomAD
rs146930442 253 I>V No ESP
ExAC
TOPMed
gnomAD
rs565550881 255 F>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs773084761
COSM3513886
256 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1055984175 258 T>A No Ensembl
rs2073194674 259 G>V No gnomAD
rs2073194607 261 L>V No TOPMed
rs909974770 262 A>S No TOPMed
gnomAD
rs1362031882 262 A>V No gnomAD
rs1428140484 265 D>H No gnomAD
rs776813582 266 I>V No ExAC
gnomAD
rs2073194374 267 E>K No Ensembl
rs2142279000 269 Y>H No Ensembl
rs762147671 271 L>P No ExAC
gnomAD
rs1056705175 272 E>G No TOPMed
gnomAD
rs1567722583 274 S>C No Ensembl
rs1377152746 275 R>K No Ensembl
rs2073187914 276 V>I No TOPMed
rs1285703178 278 F>C No TOPMed
gnomAD
rs1285703178 278 F>S No TOPMed
gnomAD
rs758144869 279 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs768887733 279 Q>H No ExAC
gnomAD
rs2073187721 281 K>N No TOPMed
rs1348984943 282 A>V No TOPMed
TCGA novel 284 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1330909814 285 S>G No gnomAD
rs775486152 286 Y>C No ExAC
TOPMed
gnomAD
rs772621478 287 H>Y No ExAC
gnomAD
COSM975318 289 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs202232974 289 F>V No Ensembl
rs1597443087 290 Y>* No Ensembl
rs765390695 290 Y>* No ExAC
gnomAD
rs779286992 290 Y>S No ExAC
rs1291217580 291 Q>K No TOPMed
TCGA novel 293 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2142278047 293 M>K No Ensembl
rs757538092 293 M>L No ExAC
gnomAD
rs2073187274 294 S>T No Ensembl
rs749614923 295 N>K No ExAC
gnomAD
rs1567722526
COSM3691359
298 P>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs2142278024 299 D>E No Ensembl
COSM1324183 299 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 303 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2142277940 303 M>R No Ensembl
rs977895803 306 I>F No TOPMed
gnomAD
rs977895803 306 I>L No TOPMed
gnomAD
rs760868551 306 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1380797 308 T>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1395491995 309 N>T No gnomAD
rs866021004 310 P>L No TOPMed
gnomAD
rs866021004 310 P>R No TOPMed
gnomAD
rs1400394328 310 P>T No gnomAD
rs571999841 311 Y>* No 1000Genomes
ExAC
TOPMed
gnomAD
rs1454179138 311 Y>H No gnomAD
COSM180595
rs760083213
312 D>N Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760083213 312 D>Y No ExAC
TOPMed
gnomAD
rs771427623 313 Y>* No ExAC
TOPMed
gnomAD
TCGA novel 313 Y>M Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs749617793 314 A>D No ExAC
TOPMed
rs1186665786 314 A>T No TOPMed
gnomAD
rs749617793 314 A>V No ExAC
TOPMed
rs201099132 316 V>F No ExAC
TOPMed
gnomAD
rs201099132 316 V>I No ExAC
TOPMed
gnomAD
rs1486407118 317 S>G No gnomAD
rs200210988 317 S>R No 1000Genomes
gnomAD
rs142720137 318 Q>* No ESP
ExAC
TOPMed
gnomAD
rs142720137 318 Q>K No ESP
ExAC
TOPMed
gnomAD
rs758007589 319 G>R No ExAC
TOPMed
gnomAD
rs749915275 321 I>F No ExAC
TOPMed
gnomAD
rs749915275 321 I>L No ExAC
TOPMed
gnomAD
rs202093997 321 I>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs202093997 321 I>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs2073184913 322 T>A No TOPMed
rs2073184813 323 V>G No gnomAD
rs2073184688 324 P>H No TOPMed
rs2073184730 324 P>T No TOPMed
rs763941186 325 S>G No ExAC
TOPMed
gnomAD
rs2073184610 325 S>R No TOPMed
rs752891317 326 I>T No ExAC
TOPMed
gnomAD
rs760923712 326 I>V No ExAC
gnomAD
rs199905182 327 D>N No ExAC
TOPMed
gnomAD
rs138473189 329 Q>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138473189 329 Q>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774421583 330 E>Q No ExAC
COSM3513884 331 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 333 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2073184157 333 M>T No TOPMed
rs1162587703 334 A>V No gnomAD
TCGA novel 338 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs777081411 339 I>S No ExAC
gnomAD
rs1329437266 339 I>V No gnomAD
COSM3421277 340 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3513883 340 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 342 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2142277506 342 L>Q No Ensembl
rs1368087359 343 G>S No TOPMed
gnomAD
rs2073181699 344 F>C No TOPMed
rs150122346 344 F>I No 1000Genomes
ESP
TOPMed
gnomAD
rs2007027 344 F>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150975395 345 T>I No ESP
ExAC
TOPMed
gnomAD
TCGA novel 346 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3889249
rs1477238452
348 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs143556595 349 R>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2073181334 350 V>G No Ensembl
rs777717443
COSM3513882
351 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs755977936 352 I>N No ExAC
TOPMed
gnomAD
rs755977936 352 I>T No ExAC
TOPMed
gnomAD
rs146767990 354 K>* No ESP
ExAC
TOPMed
gnomAD
TCGA novel 354 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs755233937 356 T>K No ExAC
gnomAD
COSM6145610 357 G>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs796552940 357 G>E No TOPMed
gnomAD
rs374967860 357 G>R No ESP
ExAC
gnomAD
rs796552940 357 G>V No TOPMed
gnomAD
TCGA novel 358 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs533132026 359 V>A No 1000Genomes
ExAC
gnomAD
rs533132026 359 V>E No 1000Genomes
ExAC
gnomAD
rs1194370102 359 V>M No gnomAD
rs147072526 360 M>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2073180905 360 M>L No TOPMed
gnomAD
rs2073180879 360 M>T No Ensembl
rs765856174 361 H>R No ExAC
rs1288436285 361 H>Y No TOPMed
gnomAD
rs2073180729 362 Y>C No gnomAD
COSM3513881 365 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2142277356 365 M>L No Ensembl
rs1184714978 366 K>E No TOPMed
gnomAD
rs1038100147 368 K>* No TOPMed
TCGA novel 368 K>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2073180535 368 K>R No Ensembl
rs1348110877 369 Q>* No TOPMed
gnomAD
rs1433252712 371 Q>* No TOPMed
gnomAD
rs762400651 372 R>C No ExAC
TOPMed
gnomAD
rs762400651 372 R>G No ExAC
TOPMed
gnomAD
rs190851894 372 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 372 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs764518013 375 Q>* No ExAC
rs952907088 377 E>K No Ensembl
COSM4063852 378 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770448071 379 D>A No ExAC
TOPMed
gnomAD
rs770448071 379 D>G No ExAC
TOPMed
gnomAD
rs774072533 379 D>N No ExAC
TOPMed
gnomAD
TCGA novel 380 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1567722071 385 D>E No Ensembl
COSM75509 386 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1222144547 387 A>T No gnomAD
rs536197822 388 A>T No Ensembl
rs1320620513 388 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
COSM3795262
rs752939333
390 L>V Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1406576674 391 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1365542369 391 Q>L No gnomAD
rs2073176169 394 N>S No TOPMed
gnomAD
TCGA novel 395 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2073176120 395 S>F No gnomAD
rs766070255 397 D>Y No ExAC
gnomAD
rs765608278 399 L>F No gnomAD
COSM4063851 400 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3513878 401 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 401 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs776579249 402 L>F No ExAC
gnomAD
rs140537021 402 L>P No ESP
TOPMed
gnomAD
rs1416455931 403 C>S No TOPMed
gnomAD
rs2073175457 406 R>T No TOPMed
gnomAD
rs1254597602 407 V>F No gnomAD
rs1254597602 407 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs2073175402 408 K>Q No gnomAD
rs1567722024 409 V>F No Ensembl
rs779697252 409 V>G No ExAC
gnomAD
rs746052766 410 G>C No ExAC
TOPMed
gnomAD
rs746052766 410 G>S No ExAC
TOPMed
gnomAD
rs779187565 412 E>A No ExAC
gnomAD
rs2142276849 412 E>K No Ensembl
rs1273469457 413 Y>C No TOPMed
gnomAD
rs2073175152 414 V>I No Ensembl
rs1340506905 416 K>I No gnomAD
COSM3402591 417 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 418 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 420 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2142276807 420 V>M No Ensembl
rs2142276702 423 V>G No 1000Genomes
rs771746008 423 V>L No ExAC
TOPMed
gnomAD
rs771746008 423 V>M No ExAC
TOPMed
gnomAD
rs779312351 425 N>H No ExAC
gnomAD
rs1418933344 426 A>E No TOPMed
gnomAD
rs1567721951 427 V>E No Ensembl
rs1567721951 427 V>G No Ensembl
rs2073174183 427 V>L No gnomAD
rs1299839118 428 G>A No TOPMed
gnomAD
rs201546675 428 G>S No 1000Genomes
rs1272968601 432 K>T No gnomAD
rs2073173874 433 A>D No TOPMed
rs1178520223 433 A>T No TOPMed
rs753113092 434 V>I No ExAC
TOPMed
gnomAD
rs2073173729 435 Y>C No TOPMed
rs117790102 435 Y>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1269015927 436 D>G No TOPMed
gnomAD
rs200860839 436 D>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs200860839 436 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1161226266 438 M>I No gnomAD
rs1472853657 439 F>L No gnomAD
TCGA novel
rs2073173480
441 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2073173406 442 M>I No TOPMed
rs1220513343 442 M>K No TOPMed
rs1336901771 442 M>V No TOPMed
rs1597442379 443 V>G No Ensembl
rs1411103529 444 T>A No gnomAD
rs2073173323 444 T>I No gnomAD
rs533193095 445 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
COSM2925189
rs756887132
445 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM975316 445 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs753450887 446 I>F No ExAC
gnomAD
rs1210591554 446 I>T No Ensembl
rs1199471150 448 Q>* No gnomAD
rs1489533536 449 Q>H No TOPMed
gnomAD
rs199687917 449 Q>L No ExAC
gnomAD
rs867780296 451 D>N No gnomAD
rs775317133 452 T>I No ExAC
gnomAD
rs1194522202 452 T>S No TOPMed
gnomAD
COSM705108 453 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1479216 454 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073172956 455 P>L No TOPMed
gnomAD
rs771338447 457 Q>* No ExAC
gnomAD
rs771338447 457 Q>K No ExAC
gnomAD
rs773382684 458 Y>H No ExAC
TOPMed
gnomAD
rs2073172801 459 F>L No Ensembl
rs201061123 460 I>T No ESP
ExAC
TOPMed
gnomAD
rs748218946 462 V>A No ExAC
TOPMed
gnomAD
rs755206230 463 L>V No ExAC
gnomAD
COSM6145612 464 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1434386124 465 I>F No TOPMed
rs2073172597 469 E>Q No Ensembl
rs1156778148 472 D>E No gnomAD
rs995033304 473 F>Y No TOPMed
rs2073152802 474 N>D No Ensembl
COSM3513877 475 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073152745 475 S>T No Ensembl
rs748189214 476 L>P No ExAC
gnomAD
rs1425718790 477 E>A No TOPMed
gnomAD
rs373671972 477 E>K No ESP
ExAC
gnomAD
rs377503297 478 Q>H No ESP
ExAC
TOPMed
gnomAD
rs1331550281 480 C>Y No TOPMed
gnomAD
rs2073152507 482 N>Y No Ensembl
rs202061954 484 T>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs139784755 485 N>K No ESP
ExAC
TOPMed
gnomAD
TCGA novel 486 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2073152393 486 E>K No TOPMed
rs1229351905 487 K>E No gnomAD
COSM6080131 490 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM6080132 490 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1005284317 494 H>D No gnomAD
rs777299446 495 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
COSM1290629
rs746953606
496 M>I haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
Ensembl
rs752209461 497 F>L No ExAC
gnomAD
rs1322810334 497 F>S No gnomAD
rs1825286196 497 F>V No gnomAD
rs534998190 498 V>M No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3513876 500 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073151869 501 Q>E No Ensembl
rs1597441413 502 E>D No TOPMed
COSM3513875 502 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073151792 503 E>* No TOPMed
rs751520223 503 E>V No ExAC
TOPMed
gnomAD
rs766370836 504 Y>* No ExAC
gnomAD
rs2073151681 504 Y>N No Ensembl
rs1166569541 505 K>N No gnomAD
rs900438166 505 K>Q No Ensembl
rs762659426 506 K>E No ExAC
rs1042855595 507 E>K No Ensembl
rs372408756 508 G>D No ESP
ExAC
TOPMed
gnomAD
rs1346250357 509 I>F No TOPMed
rs372925604 509 I>T No ESP
ExAC
TOPMed
gnomAD
rs2073151200 511 W>* No gnomAD
COSM705111 511 W>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776728359 511 W>G No ExAC
TOPMed
gnomAD
COSM705109
rs2073151226
511 W>L lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs776728359 511 W>R No ExAC
TOPMed
gnomAD
rs565383342 512 T>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs776005002 514 I>T No ExAC
gnomAD
rs867415657 514 I>V No Ensembl
rs866196539 515 D>N No Ensembl
rs1345367913 516 F>C No gnomAD
rs1220800552 516 F>V No gnomAD
rs2073150947 518 M>I No TOPMed
rs1597441375 519 D>G No Ensembl
rs2073150919 519 D>H No Ensembl
COSM5851791 519 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM975313 522 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs746235150 523 C>F No ExAC
gnomAD
rs779325362 524 I>F No ExAC
TOPMed
gnomAD
rs747807644 524 I>M No ExAC
TOPMed
gnomAD
rs988546710 524 I>N No TOPMed
rs988546710 524 I>T No TOPMed
rs150654605
COSM4704491
525 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1416523252 526 L>F No gnomAD
rs1403284365 526 L>P No gnomAD
rs1479765201 527 I>T No gnomAD
rs754559329 527 I>V No ExAC
TOPMed
gnomAD
rs147337790 528 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3402590
rs369732205
529 K>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs369732205 529 K>N No ESP
ExAC
rs1457291189 529 K>R No TOPMed
rs923451996 531 M>I No TOPMed
gnomAD
rs758306609 531 M>L No ExAC
gnomAD
rs758306609 531 M>V No ExAC
gnomAD
rs140181645 532 G>V No ESP
ExAC
TOPMed
gnomAD
rs1021554310 533 I>L No Ensembl
COSM3513873 535 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs367773958 536 I>N No ESP
ExAC
rs367773958 536 I>T No ESP
ExAC
rs2073141353 536 I>V No gnomAD
rs375188892 537 L>V No ESP
gnomAD
rs1379354500 540 E>A No TOPMed
gnomAD
rs147545214 540 E>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752844108 542 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1321828347 542 M>L No gnomAD
rs2073141030 543 F>* No Ensembl
rs2073140911 544 P>H No Ensembl
rs955965546 544 P>S No TOPMed
gnomAD
rs955965546 544 P>T No TOPMed
gnomAD
rs2073140696 545 K>N No Ensembl
rs2073140656 546 A>P No Ensembl
rs772912091 546 A>V No ExAC
TOPMed
gnomAD
rs2073140474 547 T>P No TOPMed
COSM98092
rs2142272503
549 T>I upper_aerodigestive_tract [Cosmic] No cosmic curated
Ensembl
rs142687435 550 S>F No ESP
ExAC
gnomAD
rs768487061 552 K>M No ExAC
TOPMed
gnomAD
COSM975311 552 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs768487061 552 K>R No ExAC
TOPMed
gnomAD
rs746628096 553 N>D No ExAC
TOPMed
gnomAD
rs1289154019 555 L>P No gnomAD
rs1212744110 556 Y>F No TOPMed
gnomAD
COSM975310 557 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774908221 558 Q>* No ExAC
rs1485907130 558 Q>H No gnomAD
rs774908221 558 Q>K No ExAC
rs771631959 559 H>L No ExAC
TOPMed
gnomAD
rs771631959 559 H>R No ExAC
TOPMed
gnomAD
rs2142272451 559 H>Y No Ensembl
COSM975309 560 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1169015833 561 G>E No TOPMed
gnomAD
rs778911069 562 K>N No ExAC
TOPMed
gnomAD
rs1295800853 564 N>S No gnomAD
rs777543540 565 N>D No ExAC
gnomAD
rs2142272410 565 N>K No Ensembl
rs1597440984 565 N>T No Ensembl
rs1597440980 566 F>S No Ensembl
rs138632167 567 Q>R No ESP
ExAC
TOPMed
gnomAD
rs199899730 569 P>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs199899730 569 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs755117063 570 K>N No ExAC
TOPMed
gnomAD
rs2073139573 570 K>R No TOPMed
gnomAD
rs2073139501 571 P>L No TOPMed
rs2073139501 571 P>R No TOPMed
rs1426510996 572 A>S No gnomAD
rs935796944 572 A>V No TOPMed
COSM3513871 574 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073139380 575 K>R No TOPMed
rs751527881 576 P>S No ExAC
TOPMed
gnomAD
rs1446734945 577 E>A No TOPMed
gnomAD
rs2073139212 577 E>D No Ensembl
rs766967916 577 E>K No ExAC
TOPMed
gnomAD
rs766967916 577 E>Q No ExAC
TOPMed
gnomAD
rs2073139187 578 A>T No TOPMed
rs368074798 579 H>P No ESP
ExAC
TOPMed
gnomAD
rs1206647156 579 H>Q No TOPMed
gnomAD
rs1038025039 580 F>L No Ensembl
rs773749815 583 I>V No ExAC
TOPMed
gnomAD
rs2073138814 584 H>D No Ensembl
rs1227247563
COSM1380795
584 H>R large_intestine [Cosmic] No cosmic curated
gnomAD
rs762216903 586 A>V No ExAC
gnomAD
rs775236846 588 T>I No ExAC
TOPMed
gnomAD
rs769065198 589 V>L No ExAC
TOPMed
gnomAD
rs769065198
COSM5637069
589 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2073138540 590 D>N No gnomAD
rs867265572 591 Y>* No Ensembl
rs773725350 593 I>T No ExAC
gnomAD
COSM975307 594 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 595 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs777594879 595 G>S No ExAC
TOPMed
gnomAD
TCGA novel 596 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1176738984 596 W>C No gnomAD
rs1432559597 597 L>P No gnomAD
rs769601629 598 D>E No ExAC
gnomAD
rs2073138183 599 K>E No TOPMed
rs2073138157 601 K>* No gnomAD
rs371230914 601 K>R No ESP
ExAC
TOPMed
gnomAD
rs1296768683 602 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs781481622 603 P>R No ExAC
gnomAD
rs751728021 605 N>H No ExAC
gnomAD
rs201537308 607 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs551729377 608 V>A No 1000Genomes
rs759021922 609 V>M No ExAC
TOPMed
gnomAD
rs750986931 610 G>V No ExAC
TOPMed
gnomAD
rs1351115974 613 Q>* No gnomAD
rs2073137651 614 K>R No TOPMed
rs933592567 615 S>A No TOPMed
COSM1736589 615 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs933592567 615 S>P No TOPMed
rs1306585371 616 A>S No gnomAD
rs1306585371 616 A>T No gnomAD
TCGA novel 616 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs762268159 617 M>K No ExAC
TOPMed
gnomAD
rs762268159 617 M>T No ExAC
TOPMed
gnomAD
rs143881545 617 M>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749595904 618 K>* No Ensembl
rs1346318399 620 L>P No gnomAD
rs538946965 621 A>G No ExAC
TOPMed
gnomAD
TCGA novel 622 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1403907727 622 L>V No gnomAD
COSM3513870 623 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1179262883 624 F>L No gnomAD
rs1319543285 624 F>S No TOPMed
rs1256405555 625 V>A No TOPMed
gnomAD
rs914683930 625 V>I No Ensembl
rs770408863 627 A>P No ExAC
gnomAD
rs770408863 627 A>S No ExAC
gnomAD
rs2073136909 627 A>V No TOPMed
gnomAD
rs756564704 628 T>A No Ensembl
rs200312088 628 T>M No ESP
ExAC
TOPMed
gnomAD
rs200312088 628 T>R No ESP
ExAC
TOPMed
gnomAD
rs1188976058 630 A>S No TOPMed
gnomAD
rs1188976058 630 A>T No TOPMed
gnomAD
rs372571825 630 A>V No ESP
ExAC
TOPMed
gnomAD
rs1281465772
COSM975305
633 E>K Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1308112523 634 A>P No TOPMed
rs1422403636 635 G>V No gnomAD
rs2073129984 636 G>D No Ensembl
rs112395269 636 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745999842 637 G>E No ExAC
TOPMed
gnomAD
rs757824918 639 K>I No ExAC
rs150346984
VAR_054159
640 G>S No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2073129727 641 G>S No Ensembl
rs1291632630 642 K>E No TOPMed
rs1207304026 642 K>N No TOPMed
rs1357972986 642 K>R No TOPMed
rs2073129522 643 K>* No Ensembl
COSM4827002
COSM705114
rs1233541338
643 K>N lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs2073129410 645 G>C No gnomAD
rs375730580 645 G>D No ESP
ExAC
TOPMed
gnomAD
rs2073129410 645 G>R No gnomAD
COSM705115 646 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1268365207 649 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs756466287 650 T>A No ExAC
TOPMed
gnomAD
rs756466287 650 T>S No ExAC
TOPMed
gnomAD
rs1383230275 651 V>L No Ensembl
rs140357724 653 A>P No ESP
ExAC
TOPMed
gnomAD
rs140357724 653 A>T No ESP
ExAC
TOPMed
gnomAD
rs2073128957 654 L>V No TOPMed
rs1326483360 658 N>S No TOPMed
gnomAD
rs760654103 660 N>K No ExAC
gnomAD
rs1398868794 661 K>* No TOPMed
rs1348174597 663 M>L No gnomAD
rs1285591560 664 T>A No gnomAD
rs200937599 664 T>I No ExAC
TOPMed
gnomAD
rs200937599 664 T>N No ExAC
TOPMed
gnomAD
rs774749073 665 N>K No ExAC
TOPMed
gnomAD
rs2073109682 665 N>S No TOPMed
rs1230047948 666 L>S No TOPMed
gnomAD
rs1225671412 671 P>A No TOPMed
gnomAD
rs1225671412 671 P>T No TOPMed
gnomAD
RCV001311867
rs371872450
672 H>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinVar
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs1199218668 672 H>P No TOPMed
rs1199218668 672 H>R No TOPMed
rs371872450 672 H>Y No ESP
ExAC
TOPMed
gnomAD
rs2142268843 673 F>L No Ensembl
rs773331408 674 V>M No ExAC
gnomAD
rs748630503 675 R>L No ExAC
gnomAD
rs748630503 675 R>Q No ExAC
gnomAD
rs138745330 675 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2073109042 676 C>S No TOPMed
gnomAD
rs2073109003 676 C>Y No Ensembl
rs2073108954 677 I>T No Ensembl
rs2073108916 679 P>T No gnomAD
rs144853441 680 N>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM4404053 681 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs747307206 682 T>I No ExAC
gnomAD
rs1261225360 684 T>A No Ensembl
COSM1135869
rs756916468
685 P>A kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs2073108605 685 P>L No gnomAD
rs756916468 685 P>S No ExAC
gnomAD
rs2073107223 686 G>D No gnomAD
rs2073108571 686 G>S No TOPMed
rs142560385 687 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1193707520 688 M>R No TOPMed
gnomAD
rs1193707520 688 M>T No TOPMed
gnomAD
rs73974725 688 M>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752192495 689 E>* No ExAC
TOPMed
gnomAD
rs781292832 689 E>G No ExAC
gnomAD
COSM3818796 689 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs754953188 690 H>P No ExAC
gnomAD
rs751378637 691 E>K No ExAC
TOPMed
gnomAD
rs766168023 692 L>P No ExAC
TOPMed
gnomAD
rs758077813 693 V>A No ExAC
TOPMed
gnomAD
rs1431415427 695 H>Q No gnomAD
COSM3818795 696 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073106564 696 Q>H No Ensembl
rs1597439612 697 L>V No Ensembl
COSM6080135
COSM559877
rs1456972136
698 R>M lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1354857760 699 C>* No gnomAD
rs1266969246 699 C>Y No TOPMed
COSM975304 701 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs979734675 701 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
TCGA novel 701 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs761894427 702 V>A No ExAC
TOPMed
gnomAD
rs761894427 702 V>G No ExAC
TOPMed
gnomAD
TCGA novel 703 L>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs149164396 704 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1020787646 705 G>C No TOPMed
gnomAD
rs1020787646 705 G>S No TOPMed
gnomAD
rs1183830377 707 R>C No TOPMed
gnomAD
rs374217459
COSM1380794
707 R>H large_intestine [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs374217459 707 R>L No ESP
ExAC
TOPMed
gnomAD
rs1240012622 709 C>F No TOPMed
gnomAD
rs2073106002 709 C>G No TOPMed
gnomAD
rs2073105893 715 S>G No TOPMed
rs1306328517 715 S>N No gnomAD
rs746180898 717 I>N No ExAC
gnomAD
rs769516692
COSM975303
718 L>F Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs747719067 719 Y>C No ExAC
TOPMed
gnomAD
rs1361617008
COSM359061
720 A>S lung [Cosmic] No cosmic curated
TOPMed
rs1393397619 720 A>V No gnomAD
rs1265013833 722 F>V No TOPMed
gnomAD
rs755008115 723 K>E No ExAC
TOPMed
gnomAD
rs755008115 723 K>Q No ExAC
TOPMed
gnomAD
rs1033462460 724 Q>* No TOPMed
COSM6145613 724 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073102575 726 Y>* No gnomAD
rs2142268038 726 Y>C No Ensembl
rs2073102599 726 Y>H No TOPMed
rs2073102453 727 K>E No Ensembl
rs746435775 727 K>R No ExAC
gnomAD
rs780052499 728 V>M No ExAC
gnomAD
rs1567719298 729 L>S No Ensembl
rs1415451981 730 N>H No TOPMed
COSM705116 731 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1175917365 732 S>G No TOPMed
rs1301973657 732 S>N No gnomAD
rs745737768 733 A>V No ExAC
gnomAD
rs1244962696 734 I>S No gnomAD
rs757516272 735 P>L No ExAC
TOPMed
gnomAD
COSM436002 736 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM232833 737 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1046390026 737 G>R No TOPMed
gnomAD
rs367944634 738 Q>K No ESP
ExAC
TOPMed
gnomAD
rs919495648 740 I>F No TOPMed
gnomAD
rs919495648 740 I>V No TOPMed
gnomAD
rs1365795333 741 D>G No gnomAD
rs756226304 741 D>H No ExAC
TOPMed
gnomAD
COSM975302
rs756226304
741 D>N Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1217321021 742 S>G No Ensembl
rs1164688059 743 K>T No TOPMed
gnomAD
rs183833836 744 K>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1361512941 745 A>T No TOPMed
gnomAD
rs141034409 753 I>T No ESP
ExAC
TOPMed
gnomAD
COSM75508 754 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1380792
rs1429228181
754 D>Y large_intestine [Cosmic] No cosmic curated
gnomAD
rs752011839 755 I>N No ExAC
gnomAD
rs377402025 756 D>E No ESP
ExAC
TOPMed
gnomAD
rs766830465 756 D>H No ExAC
TOPMed
gnomAD
rs1417960436 757 H>Q No TOPMed
rs768134420 757 H>Y No ExAC
TOPMed
rs2073101400 758 T>I No Ensembl
COSM705117 758 T>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1292781510 759 Q>* No gnomAD
rs1292781510 759 Q>E No gnomAD
rs2073101321 760 Y>H No Ensembl
rs1221471058 761 K>E No gnomAD
COSM975301 761 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1029861603 764 H>D No TOPMed
rs2073101196 766 K>R No gnomAD
rs1274907486 767 V>A No gnomAD
rs752137123 767 V>F No ExAC
TOPMed
gnomAD
rs752137123 767 V>I No ExAC
TOPMed
gnomAD
rs752137123 767 V>L No ExAC
TOPMed
gnomAD
TCGA novel 768 F>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs766924649 768 F>S No ExAC
gnomAD
rs2142267646 769 F>L No Ensembl
rs763422352 769 F>S No ExAC
TOPMed
gnomAD
COSM6080137 771 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1323558715 771 A>V No gnomAD
rs2073099354 773 L>F No TOPMed
rs1321872869 773 L>P No TOPMed
rs763873515 774 L>Q No ExAC
gnomAD
rs2073099223 775 G>R No gnomAD
rs756126283 775 G>V No ExAC
TOPMed
gnomAD
COSM3513863 776 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM705119
rs929288456
777 L>P lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs929288456 777 L>Q No TOPMed
gnomAD
rs929288456 777 L>R No TOPMed
gnomAD
rs2073098910 779 E>D No TOPMed
rs1471012349 779 E>K No gnomAD
COSM4918364 780 M>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs750331285 781 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3513862
rs202103660
781 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3513861
rs267604714
782 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
NCI-TCGA
TOPMed
rs1597439226 782 D>V No Ensembl
rs544727463 783 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs1274700626 783 E>K No TOPMed
gnomAD
rs748297615 784 K>N No ExAC
TOPMed
gnomAD
rs1320396894 784 K>T No TOPMed
gnomAD
rs960631123 785 L>M No TOPMed
rs781428390 786 A>G No ExAC
gnomAD
COSM3513859 787 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073098504 787 Q>K No TOPMed
COSM347877
rs141650085
788 L>M lung [Cosmic] No cosmic curated
ESP
TOPMed
rs2073098448 790 T>A No TOPMed
rs1205439874 790 T>N No gnomAD
rs148002944 791 R>* No ESP
ExAC
TOPMed
gnomAD
COSM3402589
rs780763560
791 R>Q Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1567719046 793 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
COSM272979
rs1240226033
794 A>D Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1240226033 794 A>G No gnomAD
rs750853325
COSM124588
794 A>T upper_aerodigestive_tract [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
COSM975298 794 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2142267480 795 M>I No Ensembl
rs2073098122 795 M>L No TOPMed
rs1335499154 795 M>R No TOPMed
gnomAD
rs1335499154 795 M>T No TOPMed
gnomAD
rs2073098059 796 C>R No TOPMed
rs1329951474 797 R>K No gnomAD
rs1426087895 798 G>R No TOPMed
rs1407451831
COSM975297
799 F>L Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
gnomAD
rs2142267455 803 V>A No 1000Genomes
rs2073097827 805 Y>H No TOPMed
rs752321678 806 Q>H No ExAC
TOPMed
gnomAD
rs2073097705 806 Q>K No Ensembl
rs1469465697 806 Q>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1397921490 807 K>Q No TOPMed
gnomAD
rs767133592 808 M>K No ExAC
TOPMed
gnomAD
rs767133592 808 M>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM975296
rs1687055161
809 V>M Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs759061526 810 E>* No ExAC
TOPMed
gnomAD
rs2073097379 810 E>A No TOPMed
gnomAD
TCGA novel 811 R>E Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM3889245 811 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1339318881 812 R>I No TOPMed
gnomAD
rs1339318881 812 R>K No TOPMed
gnomAD
rs191339081 813 E>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs191339081 813 E>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs200251900 813 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200251900 813 E>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs191339081 813 E>V No 1000Genomes
ExAC
TOPMed
gnomAD
COSM6145614 814 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1227146869 816 F>I No TOPMed
gnomAD
rs1227146869 816 F>V No TOPMed
gnomAD
rs765157307 817 C>F No ExAC
gnomAD
rs1338721240 821 N>D No TOPMed
gnomAD
rs775806131 822 V>A No ExAC
gnomAD
rs747212620 822 V>I No ExAC
TOPMed
gnomAD
rs772308871
COSM472280
823 R>C kidney [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
COSM1135868
rs745892725
823 R>H kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs906380475 824 A>T No Ensembl
rs2073095635 824 A>V No Ensembl
COSM4537889 826 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs913880034 826 M>V No TOPMed
gnomAD
rs2073095542 827 N>T No TOPMed
rs534110923 832 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs534110923 832 P>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1216140800 834 M>I No TOPMed
gnomAD
rs1199637751 834 M>T No gnomAD
rs576225320 835 K>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs576225320 835 K>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs751228411 836 L>V No TOPMed
gnomAD
rs779644886 837 Y>* No ExAC
TOPMed
gnomAD
rs150821492 837 Y>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs754679000 837 Y>C No ExAC
gnomAD
TCGA novel 837 Y>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs866841838 838 F>L No Ensembl
rs2142267050 839 K>E No Ensembl
rs1309851277 841 K>N No TOPMed
gnomAD
rs757853121 842 P>R No ExAC
gnomAD
COSM3513855
rs1567718869
842 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs557826774 843 L>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs1285464599 845 K>N No gnomAD
rs368592662 845 K>T No ESP
rs2073094674 846 S>G No TOPMed
COSM3513854 846 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073094640 847 A>S No Ensembl
rs765152355 848 E>* No ExAC
gnomAD
rs2073094541 849 T>R No TOPMed
TCGA novel 850 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4836026 850 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073094513 851 K>E No TOPMed
rs761774573 854 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs34561163 855 N>H No Ensembl
rs764002814 856 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1567718839 856 M>T No Ensembl
COSM340458
rs1392435608
856 M>V lung [Cosmic] No cosmic curated
TOPMed
rs2073094105 857 K>N No TOPMed
rs112853460 858 E>* No gnomAD
rs112853460
COSM1709867
858 E>K Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs775857717 859 E>* No ExAC
gnomAD
rs2073093906 860 F>C No TOPMed
rs2073093939 860 F>L No TOPMed
rs1232705158 861 E>K No Ensembl
rs1430838166 862 K>E No gnomAD
rs772360342 862 K>T No ExAC
gnomAD
rs759853754 863 T>S No Ensembl
TCGA novel 865 E>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs759594439 865 E>K No ExAC
gnomAD
rs759594439 865 E>Q No ExAC
gnomAD
rs1312165523 866 E>V No TOPMed
TCGA novel 867 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1239518689 867 L>P No gnomAD
rs774486430 869 K>R No ExAC
TOPMed
gnomAD
COSM5851789 870 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1233991273 870 T>S No gnomAD
COSM3513853
rs771382343
871 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2073093364 873 K>N No TOPMed
gnomAD
rs2073093333 875 K>R No Ensembl
rs2073093299 876 E>D No TOPMed
COSM3513851 878 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1311902430 879 E>V No gnomAD
rs1299388159 880 K>E No TOPMed
gnomAD
rs2073093154 880 K>N No gnomAD
rs2073093177 880 K>T No TOPMed
rs145689977 881 M>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 881 M>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs770179644 881 M>T No ExAC
gnomAD
TCGA novel 881 M>W Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs779697574 882 V>A No ExAC
TOPMed
gnomAD
rs879216140 882 V>F No gnomAD
rs1451564926 883 T>I No TOPMed
gnomAD
rs1451564926 883 T>S No TOPMed
gnomAD
rs1336892541 884 L>P No gnomAD
rs1468770024 885 M>K No gnomAD
rs550672109 886 Q>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs2073092762 887 E>* No TOPMed
gnomAD
rs778459618 887 E>G No ExAC
TOPMed
gnomAD
rs756672201 888 K>E No ExAC
TOPMed
gnomAD
COSM2925144
rs776259351
889 N>M Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs1409226689 889 N>S No gnomAD
rs531649678 892 Q>* No 1000Genomes
ExAC
gnomAD
rs2073092522 892 Q>H No TOPMed
rs764055730 892 Q>P No ExAC
gnomAD
rs567553961 893 L>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1254514196 897 A>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1254514196 897 A>S No TOPMed
gnomAD
rs796646379 901 S>N No TOPMed
gnomAD
rs777913323 901 S>R No ExAC
TOPMed
gnomAD
rs756117755 902 L>M No ExAC
gnomAD
rs1297175840 904 D>N No TOPMed
gnomAD
rs1382298533 904 D>V No TOPMed
gnomAD
rs1339454021 905 A>E No gnomAD
rs1461968586 905 A>P No TOPMed
gnomAD
rs2073076430 907 E>K No gnomAD
TCGA novel 908 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs931734439 910 D>G No Ensembl
rs370123454 911 Q>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1312512718 911 Q>H No TOPMed
gnomAD
TCGA novel 911 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1367891471 912 L>I No gnomAD
TCGA novel 912 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1353257321 915 T>A No TOPMed
rs754681460 915 T>I No ExAC
gnomAD
rs535145335 916 K>E No TOPMed
rs2073076150 917 I>F No gnomAD
rs1457891606 917 I>T No gnomAD
rs1220270808 918 Q>E No TOPMed
TCGA novel 920 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2073076069 920 E>G No TOPMed
rs921701135 921 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs921701135 921 A>T No TOPMed
gnomAD
rs751842685 923 I>V No ExAC
gnomAD
TCGA novel 924 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM398040 925 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1478155006 925 E>K No gnomAD
rs763037112 926 V>L No ExAC
TOPMed
gnomAD
rs763037112 926 V>M No ExAC
TOPMed
gnomAD
rs1269396681 927 T>A No gnomAD
rs1330318042 927 T>I No gnomAD
rs762283216 929 R>G No ExAC
TOPMed
gnomAD
rs2073075551 930 A>D No TOPMed
rs1252938241 930 A>P No gnomAD
rs1316698013 931 E>K No gnomAD
rs1597438357 932 D>V No Ensembl
rs1255003746 933 E>Q No TOPMed
gnomAD
TCGA novel 935 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs138643505 935 E>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144786039
TCGA novel
935 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
ESP
ExAC
TOPMed
gnomAD
rs2073075243 937 N>D No TOPMed
rs747269553 937 N>K No ExAC
gnomAD
rs1428439015 937 N>S No TOPMed
rs1386497640 940 L>V No gnomAD
rs141065290 942 A>V No ESP
ExAC
TOPMed
gnomAD
TCGA novel 944 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs748876443 945 R>T No ExAC
gnomAD
rs1423060191 946 K>E No gnomAD
rs2073074925 947 L>R No TOPMed
rs2073074906 948 E>K No TOPMed
rs1173205677 949 D>N No TOPMed
rs756170551 950 E>Q No ExAC
TOPMed
gnomAD
rs748120241 951 C>R No ExAC
TOPMed
gnomAD
TCGA novel 953 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1252607522 954 L>R No gnomAD
COSM262196 955 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs751257892 957 D>G No ExAC
TOPMed
gnomAD
rs754811330 957 D>H No ExAC
TOPMed
gnomAD
rs1224810274 959 D>E No TOPMed
gnomAD
rs766684228 961 L>F No ExAC
TOPMed
gnomAD
rs766684228 961 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs758585107 962 E>Q No ExAC
gnomAD
rs2073074338 963 L>R No Ensembl
rs750549444 963 L>V No ExAC
TOPMed
gnomAD
rs201366901 964 T>I No 1000Genomes
rs1448230822 965 L>M No gnomAD
rs765319561 966 A>P No ExAC
gnomAD
rs1329471166 968 V>A No TOPMed
gnomAD
rs199528686 968 V>I No Ensembl
rs931861936 969 E>K No TOPMed
rs1470960697 970 K>E No gnomAD
COSM5938397 971 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs761837288 973 H>R No ExAC
gnomAD
rs1403199725 973 H>Y No TOPMed
gnomAD
TCGA novel 974 A>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs956956281 974 A>V No TOPMed
rs777198468 975 T>A No ExAC
TOPMed
gnomAD
rs1274787748 978 K>N No TOPMed
gnomAD
rs963310758 979 V>M No Ensembl
rs199775273 983 T>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758137986 984 E>G No ExAC
TOPMed
gnomAD
rs1473066924 985 E>G No gnomAD
rs1473066924 985 E>V No gnomAD
rs1236438696 986 M>T No gnomAD
rs2073073021 987 A>T No Ensembl
rs1184763135 987 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
COSM341081 988 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs779036939 988 G>D No ExAC
rs1286207500 988 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs757342464 989 L>R No ExAC
COSM6145615 990 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2142264746 990 D>Y No Ensembl
COSM5722556 991 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs563867561 992 T>I No 1000Genomes
ExAC
gnomAD
rs563867561 992 T>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
gnomAD
rs996451682 993 I>T No Ensembl
rs150191104 993 I>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs867000141 998 K>E No Ensembl
rs2073072597 998 K>R No TOPMed
TCGA novel 999 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 999 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1380508250 999 E>Q No gnomAD
rs1374156374 1000 K>R No TOPMed
gnomAD
COSM1324185 1001 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1176123258 1002 A>T No gnomAD
rs1328439228 1003 L>F No gnomAD
rs1298975035 1004 Q>* No gnomAD
rs1399199975 1004 Q>R No gnomAD
COSM2925131 1005 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1455109130 1006 A>P No TOPMed
gnomAD
rs773007159 1006 A>V No ExAC
gnomAD
rs1166791650 1007 H>Q No 1000Genomes
TOPMed
gnomAD
rs761447230 1007 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1412973961 1008 Q>E No gnomAD
COSM262195 1009 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1175572226 1010 T>I No gnomAD
rs1175572226 1010 T>N No gnomAD
rs746940411 1012 D>N No ExAC
TOPMed
gnomAD
rs746940411 1012 D>Y No ExAC
TOPMed
gnomAD
TCGA novel 1013 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1261550377 1013 D>V No TOPMed
gnomAD
rs1322853824 1015 Q>K No gnomAD
rs2142264588 1016 A>S No Ensembl
rs553417822 1016 A>V No 1000Genomes
ExAC
gnomAD
rs745603827 1017 E>A No ExAC
TOPMed
gnomAD
rs2073071504 1018 E>K No TOPMed
TCGA novel 1020 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1758255658 1021 V>I No Ensembl
rs1597438130 1023 T>N No Ensembl
TCGA novel 1023 T>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1295495076 1024 L>V No TOPMed
rs370896262 1025 T>N No ESP
ExAC
TOPMed
gnomAD
rs1436852727 1026 K>Q No TOPMed
gnomAD
rs768175190 1026 K>T No Ensembl
rs2142264524 1031 L>P No Ensembl
rs1213548552 1032 E>Q No Ensembl
rs1349240600 1033 Q>H No TOPMed
gnomAD
rs2142264508 1035 V>A No Ensembl
rs1411187766 1036 D>N No gnomAD
rs1169320612 1037 D>N No gnomAD
rs765051549 1038 L>F No ExAC
TOPMed
gnomAD
rs1407869818 1039 E>D No gnomAD
COSM3742076
rs2073062126
1040 G>R liver [Cosmic] No cosmic curated
TOPMed
rs373478505 1041 S>T No ESP
TOPMed
COSM5956731 1041 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073062064 1042 L>S No Ensembl
rs964983369
COSM1709864
1043 E>K skin [Cosmic] No cosmic curated
TOPMed
rs964983369 1043 E>Q No TOPMed
rs914529134 1044 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No Ensembl
NCI-TCGA
COSM705121 1044 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1045 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1597437724 1046 K>N No Ensembl
rs776295792 1049 R>L No ExAC
TOPMed
gnomAD
rs776295792 1049 R>Q No ExAC
TOPMed
gnomAD
rs1424967316
COSM705122
1049 R>W lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1190788105 1052 L>I No TOPMed
gnomAD
rs2073061728 1053 E>Q No TOPMed
rs2073061604 1057 R>G No TOPMed
rs763541728 1058 K>R No ExAC
gnomAD
rs1456464102 1059 L>R No gnomAD
rs2073061491 1060 E>D No Ensembl
rs2073061521 1060 E>G No TOPMed
rs1211138881 1061 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs760161453 1061 G>R No ExAC
gnomAD
rs1276320644 1063 L>I No TOPMed
gnomAD
rs1241959216 1066 A>V No gnomAD
rs1394527074 1067 Q>R No TOPMed
gnomAD
COSM975294 1068 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs775416426 1068 E>D No ExAC
TOPMed
gnomAD
COSM227621 1069 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073061180 1071 M>R No Ensembl
TCGA novel 1071 M>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs771982771
COSM283010
1071 M>V Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1224060220 1072 D>H No TOPMed
gnomAD
COSM436000 1072 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1224060220 1072 D>Y No TOPMed
gnomAD
COSM4063850 1074 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1443971953 1074 E>D No gnomAD
rs1597437677 1074 E>G No Ensembl
rs2073061113 1074 E>K No TOPMed
rs2073061001 1077 K>E No gnomAD
rs745728200 1079 Q>* No ExAC
gnomAD
COSM1128829 1079 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774100076 1080 L>F No ExAC
TOPMed
gnomAD
TCGA novel 1080 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs774100076 1080 L>V No ExAC
TOPMed
gnomAD
rs749496478 1081 D>E No ExAC
gnomAD
rs771235380 1081 D>H No ExAC
TOPMed
gnomAD
rs1275632278 1082 E>K No TOPMed
rs1421846869 1083 K>M No TOPMed
gnomAD
rs370765676 1084 L>F No ESP
ExAC
TOPMed
gnomAD
rs1178526885 1085 K>Q No TOPMed
gnomAD
COSM3513846 1086 K>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1262277285 1086 K>N No gnomAD
rs756153366 1086 K>R No ExAC
gnomAD
rs866572427 1087 K>E No TOPMed
gnomAD
rs1255074677 1087 K>I No TOPMed
gnomAD
rs866572427 1087 K>Q No TOPMed
gnomAD
COSM283009 1088 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs749046590 1088 E>K No ExAC
gnomAD
TCGA novel 1089 F>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1089 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2073059261 1091 M>I No gnomAD
rs371969999 1092 S>R No ESP
TOPMed
gnomAD
rs773320878 1093 G>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs2142263256 1093 G>D No Ensembl
rs773320878 1093 G>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs770046917 1095 Q>K No ExAC
gnomAD
COSM75507 1096 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073059117 1096 S>R No Ensembl
rs748308691 1096 S>T No ExAC
gnomAD
rs781393011 1097 K>N No ExAC
TOPMed
gnomAD
rs151057376 1098 I>T No ESP
ExAC
TOPMed
gnomAD
rs987175366
COSM3513844
1099 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs2073058957 1100 D>E No TOPMed
gnomAD
rs200277513 1101 E>A No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3513843 1101 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs780638882 1102 Q>P No ExAC
TOPMed
gnomAD
rs2073058845 1103 A>G No Ensembl
rs758699196 1103 A>T No ExAC
gnomAD
rs1393538691 1104 L>V No gnomAD
rs750782921 1105 G>S No ExAC
TOPMed
gnomAD
rs1415831453 1106 M>T No TOPMed
gnomAD
rs763718834 1106 M>V No ExAC
gnomAD
rs755759148 1108 L>M No ExAC
TOPMed
gnomAD
rs755759148 1108 L>V No ExAC
TOPMed
gnomAD
COSM3957990 1109 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1478309572 1109 Q>P No TOPMed
gnomAD
rs2073058587 1110 K>R No Ensembl
rs2073058564 1111 K>* No TOPMed
gnomAD
rs752253269 1111 K>I No ExAC
TOPMed
gnomAD
COSM975292 1111 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073058434 1114 E>D No Ensembl
rs2073058345 1115 L>S No Ensembl
rs1420946432 1116 Q>K No TOPMed
gnomAD
rs1197892344 1117 A>D No TOPMed
gnomAD
rs1197892344 1117 A>V No TOPMed
gnomAD
rs762918988
COSM4704484
1118 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM4141975
rs377745179
1118 R>H ovary [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs377745179 1118 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs147055712 1119 I>T No ESP
ExAC
TOPMed
gnomAD
rs1178772466 1119 I>V No TOPMed
gnomAD
rs777001761 1120 E>G No ExAC
TOPMed
gnomAD
rs1187348100 1120 E>K No TOPMed
gnomAD
rs981295548 1121 E>G No TOPMed
gnomAD
rs2073056928 1121 E>K No Ensembl
rs200140162 1122 L>V No ESP
ExAC
TOPMed
gnomAD
rs921401620 1124 E>G No TOPMed
gnomAD
rs267604712 1124 E>K No TOPMed
gnomAD
rs267604712 1124 E>Q No TOPMed
gnomAD
COSM3513841 1125 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2142262985 1127 E>G No 1000Genomes
COSM3513840
rs775607124
1127 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1184670282 1130 R>G No gnomAD
COSM705123 1130 R>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM6054689
rs199524427
1130 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1184670282
COSM975291
1130 R>W Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
gnomAD
rs2073056504 1131 A>S No Ensembl
COSM705124 1132 S>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4449817 1133 R>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs779248683 1133 R>G No ExAC
TOPMed
gnomAD
rs749599520 1133 R>L No ExAC
TOPMed
gnomAD
rs749599520 1133 R>Q No ExAC
TOPMed
gnomAD
rs779248683 1133 R>W No ExAC
TOPMed
gnomAD
rs751073866 1134 A>D No ExAC
gnomAD
rs751073866 1134 A>V No ExAC
gnomAD
COSM3513839 1135 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1403094121 1136 A>G No gnomAD
rs1171850317 1139 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1171850317 1139 Q>K No TOPMed
gnomAD
rs1432611647
COSM1216115
1140 R>C Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs779598062
COSM245850
1140 R>H Variant assessed as Somatic; MODERATE impact. prostate haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1432611647 1140 R>S No TOPMed
gnomAD
rs962365778 1141 S>F No Ensembl
rs765204648
COSM472279
1144 S>F kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs147919797 1145 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1193826405 1145 R>W No TOPMed
gnomAD
rs1597437400 1146 E>D No Ensembl
rs530313478 1148 E>K No 1000Genomes
ExAC
gnomAD
rs1346129098 1150 I>T No gnomAD
rs1006399057 1150 I>V No TOPMed
gnomAD
rs767665290 1151 S>R No ExAC
gnomAD
rs886716864 1151 S>R No TOPMed
gnomAD
rs1234257010
COSM262194
1152 E>D Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
gnomAD
COSM4063847
rs759467878
1152 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs968671611 1153 R>G No TOPMed
gnomAD
rs1333724705 1154 L>P No gnomAD
rs1597437352
COSM3749390
1155 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs1413124043 1155 E>K No gnomAD
rs1597437352 1155 E>V No TOPMed
COSM6145617 1156 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1307324331 1157 A>T No TOPMed
gnomAD
rs182308618 1158 G>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773538453 1160 A>D No ExAC
TOPMed
gnomAD
rs2073054921 1160 A>T No Ensembl
rs773538453 1160 A>V No ExAC
TOPMed
gnomAD
rs2073054803 1161 T>A No TOPMed
COSM3513837 1161 T>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073054681 1163 A>D No gnomAD
rs1367573210 1163 A>P No TOPMed
gnomAD
rs541063624 1164 Q>* No TOPMed
gnomAD
rs541063624 1164 Q>E No TOPMed
gnomAD
rs779537092 1164 Q>H No ExAC
gnomAD
TCGA novel 1164 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs745353203 1165 I>N No ExAC
TOPMed
gnomAD
rs745353203 1165 I>T No ExAC
TOPMed
gnomAD
rs1567717407 1167 M>K No Ensembl
rs1217717081 1168 N>S No TOPMed
gnomAD
COSM71739
rs2073054516
1169 K>T ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1446996988 1170 K>R No TOPMed
gnomAD
rs144827751 1171 R>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144827751 1171 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs192282019
COSM1609829
1171 R>W liver central_nervous_system [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs764000949 1172 E>A No ExAC
TOPMed
gnomAD
COSM4544179
rs753734214
1172 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs2142262708 1173 A>V No Ensembl
rs1231704667 1174 E>D No gnomAD
rs1342538829 1176 Q>H No gnomAD
COSM6145619 1176 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1298654536 1177 K>E No gnomAD
rs1048400406 1177 K>N No TOPMed
rs2073054197 1178 M>T No Ensembl
rs755825265 1179 R>C No ExAC
TOPMed
gnomAD
rs543784627 1179 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs543784627 1179 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1179 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1597437264 1181 D>A No Ensembl
rs759721896 1181 D>E No ExAC
gnomAD
COSM3513836 1181 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1234896673 1182 L>P No TOPMed
rs934545239 1183 E>K No gnomAD
rs1405840466 1183 E>V No gnomAD
rs1410365781 1185 A>S No Ensembl
rs762459943 1187 L>R No Ensembl
rs774291783 1188 Q>H No ExAC
TOPMed
gnomAD
COSM1286412 1188 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs766914111 1189 H>Q No ExAC
gnomAD
rs1597437235
COSM359060
1191 A>S lung [Cosmic] No cosmic curated
Ensembl
rs763430162 1192 T>K No ExAC
gnomAD
TCGA novel
rs763430162
1192 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
ExAC
gnomAD
rs563239651 1193 A>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs563239651 1193 A>G No 1000Genomes
ExAC
TOPMed
gnomAD
COSM5048802
rs563239651
1193 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1350837995 1195 T>A No TOPMed
rs1452635535 1196 L>R No gnomAD
rs779808443 1196 L>V No TOPMed
gnomAD
rs868157819 1197 R>S No TOPMed
rs748399899 1197 R>W No ExAC
TOPMed
gnomAD
rs775267559 1198 K>N No ExAC
TOPMed
gnomAD
rs2073052674 1199 K>E No Ensembl
TCGA novel 1199 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs962789365 1199 K>R No Ensembl
rs962789365 1199 K>T No Ensembl
rs745421129 1200 H>Q No ExAC
TOPMed
gnomAD
rs369355806 1200 H>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs944217697 1202 D>E No TOPMed
rs1213816254 1203 S>N No TOPMed
gnomAD
rs778542003 1203 S>R No ExAC
TOPMed
gnomAD
rs756775939 1204 V>A No ExAC
TOPMed
gnomAD
TCGA novel 1204 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2073052296 1205 A>S No Ensembl
rs375020058 1206 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752421930 1207 L>P No ExAC
gnomAD
rs1367898107 1210 Q>* No TOPMed
gnomAD
rs2142262537 1211 I>L No Ensembl
TCGA novel 1212 D>E Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1407813350 1213 N>K No gnomAD
rs1417835465 1214 L>P No gnomAD
rs149871803 1215 Q>* No ESP
ExAC
TOPMed
gnomAD
rs139004016 1215 Q>R No ESP
ExAC
TOPMed
gnomAD
rs751690695 1216 R>* No ExAC
gnomAD
rs751690695 1216 R>G No ExAC
gnomAD
rs371858208 1216 R>L No ESP
ExAC
TOPMed
gnomAD
rs371858208 1216 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1459123184 1217 V>L No TOPMed
gnomAD
rs1459123184 1217 V>M No TOPMed
gnomAD
rs138742085 1223 K>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765644845 1224 E>G No ExAC
rs534444601 1224 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs776826894 1225 K>* No ExAC
gnomAD
rs182004113 1225 K>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs759131743 1226 S>G No ExAC
gnomAD
rs2073050976 1227 E>A No Ensembl
TCGA novel 1227 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs774715939 1228 M>K No TOPMed
rs915862238 1228 M>L No TOPMed
TCGA novel 1229 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2073050888 1229 K>T No gnomAD
rs375389529 1230 M>R No ESP
ExAC
TOPMed
gnomAD
rs2073050800 1231 E>A No TOPMed
rs748749758 1232 I>T No ExAC
TOPMed
gnomAD
TCGA novel 1232 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs200741359 1233 D>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs200741359 1233 D>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs2073050609 1234 D>E No Ensembl
rs372634360 1235 L>F No ESP
TOPMed
gnomAD
rs188804570 1235 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
gnomAD
rs188804570 1235 L>R No 1000Genomes
ExAC
gnomAD
rs1007631423 1237 S>G No Ensembl
rs1484445072 1237 S>I No TOPMed
gnomAD
rs1415383229 1238 N>K No gnomAD
rs1395053680 1239 M>R No gnomAD
rs1395053680 1239 M>T No gnomAD
rs765389418 1239 M>V No TOPMed
rs1567717219 1240 E>Q No Ensembl
COSM3513833 1241 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1172351973 1241 T>S No gnomAD
rs2073050255 1242 V>I No gnomAD
rs754756462
COSM1732762
1246 K>N pancreas [Cosmic] No cosmic curated
ExAC
gnomAD
rs995556157 1246 K>Q No TOPMed
gnomAD
rs2073045554 1247 G>R No TOPMed
gnomAD
COSM975290 1248 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs200591032 1248 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
NCI-TCGA
rs372955878 1251 K>N No ESP
TOPMed
gnomAD
rs1310717645 1252 M>I No TOPMed
gnomAD
rs61730794 1253 C>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3402587
rs1291893077
1254 R>C Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs764602423
COSM2925114
1254 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM177586
rs142605633
1255 A>T large_intestine [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
COSM435998 1256 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs766176370 1257 E>K No ExAC
gnomAD
rs1179299493 1258 D>* No gnomAD
rs181103457 1259 Q>R No 1000Genomes
ExAC
TOPMed
gnomAD
COSM4063846
rs1179607562
1260 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs1475044013 1260 L>V No gnomAD
rs1555566427 1261 S>G No gnomAD
rs1415941889 1261 S>T No gnomAD
COSM3513832 1262 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772874315 1263 I>N No ExAC
gnomAD
rs1209300458 1264 K>R No TOPMed
gnomAD
rs1209300458 1264 K>T No TOPMed
gnomAD
rs1260730446 1270 Q>E No gnomAD
rs1203341157 1271 Q>* No gnomAD
rs776451170 1271 Q>L No ExAC
TOPMed
gnomAD
rs776451170 1271 Q>R No ExAC
TOPMed
gnomAD
rs554558885 1272 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs117616137 1272 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775240181 1274 I>M No ExAC
gnomAD
rs1332297204 1274 I>V No gnomAD
rs1857365016 1276 D>Y No Ensembl
rs1046776641 1277 L>F No gnomAD
TCGA novel 1278 T>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1327416626 1280 Q>R No gnomAD
rs2073043794 1281 R>G No Ensembl
rs746118240 1282 A>E No ExAC
TOPMed
gnomAD
rs2073043745 1282 A>P No TOPMed
rs746118240
COSM5525271
1282 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149329893 1283 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM240781
rs749373460
1283 R>H Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749373460 1283 R>L No ExAC
TOPMed
gnomAD
rs756659080 1285 Q>L No ExAC
TOPMed
gnomAD
rs756659080 1285 Q>P No ExAC
TOPMed
gnomAD
rs2073043318 1286 T>A No Ensembl
rs1173135767 1286 T>R No gnomAD
rs1249269755 1287 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
COSM4605248 1287 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073043188 1288 S>L No Ensembl
rs2073043227 1288 S>T No TOPMed
rs777978679 1289 G>D No ExAC
gnomAD
rs1462644557 1289 G>R No TOPMed
gnomAD
TCGA novel 1289 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1239478400 1291 Y>C No gnomAD
rs769947244 1292 S>A No ExAC
TOPMed
gnomAD
rs781738527
COSM3387703
1293 R>C pancreas [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs781738527 1293 R>G No ExAC
TOPMed
gnomAD
rs751944483 1293 R>H No ExAC
TOPMed
gnomAD
rs751944483 1293 R>L No ExAC
TOPMed
gnomAD
rs2073027072 1294 Q>* No TOPMed
gnomAD
rs778465333 1295 L>R No ExAC
gnomAD
rs370430052 1296 D>N No ESP
ExAC
TOPMed
gnomAD
rs370430052 1296 D>Y No ESP
ExAC
TOPMed
gnomAD
rs1326203182 1297 E>A No TOPMed
gnomAD
rs1326203182 1297 E>G No TOPMed
gnomAD
rs753380480 1298 K>N No ExAC
TOPMed
gnomAD
rs1452847373 1300 T>A No TOPMed
gnomAD
rs1567716423 1301 L>I No Ensembl
rs1311641189 1301 L>P No gnomAD
rs1239841707 1302 V>L No gnomAD
rs1335448454 1304 Q>* No gnomAD
rs2073026386 1305 L>P No Ensembl
rs752643679
VAR_036003
COSM32777
1306 S>L large_intestine breast a breast cancer sample; somatic mutation [Cosmic, UniProt] No cosmic curated
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs1311980679 1308 G>V No TOPMed
gnomAD
rs1432787830 1309 K>N No TOPMed
gnomAD
rs759316268 1310 Q>K No ExAC
TOPMed
gnomAD
rs1158696276 1310 Q>R No gnomAD
rs774164664 1311 A>S No ExAC
TOPMed
gnomAD
rs774164664 1311 A>T No ExAC
TOPMed
gnomAD
rs75973950 1312 F>L No 1000Genomes
ExAC
gnomAD
rs1189218325 1313 T>I No TOPMed
gnomAD
rs763260257 1315 Q>* No ExAC
TOPMed
gnomAD
COSM1380786 1315 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073025670 1315 Q>R No Ensembl
rs919385796 1316 I>M No TOPMed
gnomAD
rs773530680 1316 I>T No ExAC
TOPMed
gnomAD
TCGA novel 1318 E>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2073025473 1318 E>V No TOPMed
rs182799256 1319 L>M No 1000Genomes
ExAC
gnomAD
rs182799256 1319 L>V No 1000Genomes
ExAC
gnomAD
rs2073025367 1320 K>R No Ensembl
rs147039410 1321 R>S No ESP
ExAC
TOPMed
gnomAD
rs747378017 1322 Q>* No ExAC
gnomAD
rs1277798093 1323 L>F No gnomAD
rs780484505 1323 L>P No ExAC
gnomAD
rs780484505 1323 L>R No ExAC
gnomAD
rs371854508 1325 E>G No ESP
ExAC
TOPMed
gnomAD
rs758627359 1325 E>K No ExAC
gnomAD
rs2073024861 1326 E>D No Ensembl
rs777358157 1327 I>T No ExAC
gnomAD
rs985788759 1328 K>N No TOPMed
gnomAD
rs1033746781 1331 S>N No TOPMed
gnomAD
rs1033746781 1331 S>T No TOPMed
gnomAD
rs533987659 1334 A>E No 1000Genomes
ExAC
gnomAD
rs1422107639 1335 H>L No gnomAD
rs1383856336 1336 A>G No TOPMed
gnomAD
TCGA novel 1336 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1383856336 1336 A>V No TOPMed
gnomAD
rs1752525614 1338 Q>K No TOPMed
rs754378877 1339 S>F No ExAC
rs1597435937 1340 S>F No Ensembl
rs751545493 1340 S>P No ExAC
gnomAD
VAR_030193
COSM361171
rs3744564
1341 R>C lung large_intestine [Cosmic] No cosmic curated
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM4063845
rs758259998
1341 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs918710103 1342 H>Y No TOPMed
TCGA novel
rs1321536766
1343 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs750209143 1344 C>Y No ExAC
gnomAD
rs765617199 1345 D>G No ExAC
gnomAD
COSM3513831 1345 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1347 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3513830
rs146728905
1348 R>Q upper_aerodigestive_tract [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM145656
rs201222002
1348 R>W haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1337422951 1349 E>K No gnomAD
rs1203144062 1350 Q>H No TOPMed
rs779794149 1350 Q>L No TOPMed
gnomAD
rs779794149 1350 Q>R No TOPMed
gnomAD
rs764268905 1351 Y>C No ExAC
TOPMed
gnomAD
rs1369639717 1352 E>K No 1000Genomes
TOPMed
gnomAD
rs1369639717 1352 E>Q No 1000Genomes
TOPMed
gnomAD
COSM6145620 1353 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776115973 1354 E>K No ExAC
TOPMed
gnomAD
rs746298426 1355 Q>H No ExAC
gnomAD
rs1597435891 1355 Q>K No Ensembl
rs867278498
COSM3513829
1356 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs1171626771 1357 A>D No gnomAD
rs774684415 1358 K>M No ExAC
TOPMed
gnomAD
rs774684415 1358 K>R No ExAC
TOPMed
gnomAD
rs774684415 1358 K>T No ExAC
TOPMed
gnomAD
rs1597435887 1359 A>G No Ensembl
rs2073021723 1359 A>P No gnomAD
COSM6037935 1359 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2086171093 1360 E>A No TOPMed
gnomAD
rs747802188 1360 E>K No ExAC
TOPMed
gnomAD
rs1038263832 1362 Q>* No TOPMed
rs1567716195 1362 Q>H No Ensembl
rs1597435866 1363 R>S No Ensembl
rs754537415
COSM4063843
1364 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs151094940 1365 M>I No ESP
ExAC
TOPMed
gnomAD
rs1597435856 1365 M>L No Ensembl
rs780076435 1366 S>A No ExAC
gnomAD
COSM3957989 1366 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs757644677 1369 N>I No ExAC
gnomAD
rs2073021134 1370 S>T No Ensembl
rs1203608310 1371 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1567716170 1372 V>A No Ensembl
rs1406036179 1372 V>I No TOPMed
rs1303052267 1373 A>V No TOPMed
gnomAD
rs765132904 1374 Q>* No ExAC
gnomAD
rs2073020704 1374 Q>H No Ensembl
rs1344212562 1376 R>K No TOPMed
gnomAD
rs2073020624 1377 T>I No TOPMed
TCGA novel 1377 T>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1563419 1378 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1216114
rs757081665
1380 E>D large_intestine Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
ExAC
gnomAD
NCI-TCGA Cosmic
rs2073020546 1381 T>I No TOPMed
gnomAD
rs571435872 1382 D>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs2073020455 1384 I>L No Ensembl
rs764202104 1384 I>T No ExAC
TOPMed
gnomAD
rs760849655 1385 Q>R No ExAC
TOPMed
gnomAD
rs142884848
COSM1749853
1386 R>C urinary_tract [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142884848 1386 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778363485 1386 R>H No ExAC
TOPMed
gnomAD
rs142884848 1386 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199993595 1387 T>P No 1000Genomes
ExAC
gnomAD
rs111407089 1388 E>G No Ensembl
rs771314271 1388 E>K No ExAC
gnomAD
COSM3889244
rs1435961876
1389 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs776391656 1391 E>K No ExAC
TOPMed
gnomAD
rs776391656 1391 E>Q No ExAC
TOPMed
gnomAD
rs779036217 1396 K>N No ExAC
TOPMed
gnomAD
rs2073013629 1396 K>Q No Ensembl
rs1440961452 1396 K>R No TOPMed
rs1336630101 1398 A>P No TOPMed
gnomAD
rs770988771 1399 Q>* No ExAC
TOPMed
gnomAD
rs770988771 1399 Q>E No ExAC
TOPMed
gnomAD
rs367994781 1400 R>C No ESP
ExAC
TOPMed
gnomAD
rs148588034
RCV001093235
1400 R>H No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs148588034 1400 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2073013194 1402 Q>* No TOPMed
gnomAD
COSM3513828 1406 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1324626895 1406 E>Q No TOPMed
gnomAD
COSM1520156
COSM6145622
rs752892297
1409 E>* lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs752892297 1409 E>Q No ExAC
gnomAD
rs1363259529 1411 V>L No TOPMed
gnomAD
COSM705125 1412 N>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1446737089 1412 N>K No 1000Genomes
TOPMed
gnomAD
rs755097174 1412 N>S No ExAC
gnomAD
rs766934626 1413 A>G No ExAC
gnomAD
rs751604967 1413 A>T No ExAC
gnomAD
rs750880701 1414 K>R No ExAC
TOPMed
gnomAD
rs765556012 1415 C>R No ExAC
gnomAD
rs762192889 1416 A>S No ExAC
gnomAD
rs2142257819 1416 A>V No Ensembl
COSM3889243 1417 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1435262667 1418 L>I No gnomAD
rs1184301499 1418 L>P No gnomAD
COSM6080140 1419 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs375444175 1419 E>D No ESP
TOPMed
gnomAD
rs1397188343 1420 K>R No TOPMed
rs143212686
COSM3378068
1421 T>M pancreas [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs143212686 1421 T>R No ESP
ExAC
TOPMed
gnomAD
COSM705126 1423 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1212695110 1424 R>S No gnomAD
rs1328756071 1424 R>W No TOPMed
gnomAD
COSM5385650 1428 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3889242 1432 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs527412902 1433 M>I No 1000Genomes
ExAC
gnomAD
rs2073012123 1433 M>K No TOPMed
gnomAD
TCGA novel 1433 M>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2073012146 1433 M>V No Ensembl
rs773159635 1434 I>T No ExAC
TOPMed
gnomAD
rs2073011981 1435 D>E No Ensembl
rs867955270
COSM230332
1435 D>N NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs1340267248 1436 V>A No TOPMed
gnomAD
rs1340267248 1436 V>D No TOPMed
gnomAD
rs372720413 1436 V>L No ESP
ExAC
TOPMed
gnomAD
rs1474672169 1437 E>D No TOPMed
gnomAD
rs1028373874 1437 E>Q No Ensembl
rs376800819 1440 N>K No ESP
TOPMed
gnomAD
rs781431071 1441 A>S No ExAC
TOPMed
gnomAD
rs781431071 1441 A>T No ExAC
TOPMed
gnomAD
rs755185147 1441 A>V No ExAC
gnomAD
rs2073011720 1442 A>D No Ensembl
rs1462774514 1443 C>F No TOPMed
gnomAD
rs2073011652 1444 A>G No TOPMed
gnomAD
RCV001093234
rs139860229
VAR_036004
COSM32710
1445 A>T Variant assessed as Somatic; MODERATE impact. large_intestine breast a breast cancer sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] No NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs758468961 1447 D>N No ExAC
gnomAD
rs1009466486 1447 D>V No Ensembl
rs2073011485 1449 K>N No TOPMed
TCGA novel 1450 Q>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs145980080 1452 N>K No ESP
ExAC
TOPMed
gnomAD
rs1462277540 1452 N>Y No gnomAD
TCGA novel 1453 F>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs765754672 1454 D>E No ExAC
TOPMed
gnomAD
rs1166663666 1454 D>G No gnomAD
rs2073011318 1455 K>* No TOPMed
COSM5901993 1456 I>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs747233627 1456 I>M No ExAC
TOPMed
gnomAD
rs2142257293 1457 L>P No Ensembl
rs758460560 1458 A>P No ExAC
COSM1709860
rs1567715629
1460 W>* skin [Cosmic] No cosmic curated
Ensembl
rs1203438599
COSM1709860
1460 W>* Variant assessed as Somatic; HIGH impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
COSM975288 1460 W>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1486971426 1461 K>* No gnomAD
rs1281635587 1462 Q>E No gnomAD
rs142538104 1463 K>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1342993786 1467 T>I No TOPMed
gnomAD
rs375586690 1468 H>Q No ESP
ExAC
TOPMed
gnomAD
rs1369558627 1468 H>R No gnomAD
rs754340824 1469 A>G No ExAC
TOPMed
gnomAD
rs1292972737 1469 A>T No TOPMed
gnomAD
COSM975287 1469 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1416369023 1470 E>G No gnomAD
rs756507941 1470 E>K No ExAC
TOPMed
gnomAD
COSM417202 1470 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073008146 1471 L>F No gnomAD
COSM4990930 1471 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs751278810 1472 E>A No ExAC
TOPMed
gnomAD
rs2073008042 1473 A>D No TOPMed
rs139132394 1475 Q>* No ESP
ExAC
TOPMed
gnomAD
COSM4826721 1475 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1386502889 1476 K>N No gnomAD
rs1158637321 1477 E>D No gnomAD
rs1567715596
COSM1709859
1477 E>K skin [Cosmic] No cosmic curated
Ensembl
rs1293687580 1478 S>C No TOPMed
rs150776466 1479 R>C No ESP
ExAC
TOPMed
gnomAD
rs376070618 1479 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1630050
rs376070618
1479 R>L liver [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs2073007648 1480 S>P No TOPMed
rs185795474 1481 L>F No 1000Genomes
ExAC
gnomAD
rs1476411220 1482 S>R No TOPMed
gnomAD
rs768467825 1483 T>K No ExAC
gnomAD
rs768467825 1483 T>R No ExAC
gnomAD
COSM283008 1484 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3513824 1484 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1441120854 1486 F>L No TOPMed
gnomAD
rs760445157 1488 I>V No ExAC
gnomAD
rs892475843 1489 K>Q No TOPMed
gnomAD
rs1205773092 1490 N>H No gnomAD
rs892249854 1490 N>I No TOPMed
gnomAD
rs1567715561 1490 N>K No Ensembl
rs373084196 1491 A>T No ESP
ExAC
TOPMed
gnomAD
rs141308810 1491 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1328597592 1492 Y>C No gnomAD
COSM417203 1493 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073006940 1494 E>D No Ensembl
rs865843673
COSM3513822
1494 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
TCGA novel 1495 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2073006911 1496 L>S No TOPMed
COSM705127 1497 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1445820256 1497 D>N No gnomAD
rs1328115885 1498 Q>R No gnomAD
rs745994219 1499 L>F No ExAC
TOPMed
gnomAD
rs779064724 1499 L>P No ExAC
TOPMed
gnomAD
COSM107119
rs139013228
1500 E>K Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs148274267 1501 T>N No ESP
ExAC
TOPMed
gnomAD
rs1419034833 1502 L>F No gnomAD
rs756595738 1503 K>Q No ExAC
TOPMed
gnomAD
rs1399756795 1503 K>R No TOPMed
gnomAD
COSM705128 1504 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3717163
rs779637570
1504 R>Q liver [Cosmic] No cosmic curated
ExAC
gnomAD
rs753077778 1504 R>W No ExAC
TOPMed
gnomAD
rs1194043224 1506 N>D No gnomAD
rs758051881 1511 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs758051881
COSM3387702
1511 Q>K pancreas [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs866021469 1512 E>K No Ensembl
rs2073005208 1513 I>F No Ensembl
rs2073005175 1515 D>V No TOPMed
rs1469114204 1516 L>P No gnomAD
rs987428245 1516 L>V No TOPMed
gnomAD
rs1597435074 1519 Q>H No Ensembl
rs745561875 1520 I>T No ExAC
TOPMed
gnomAD
rs756803560 1521 A>E No ExAC
TOPMed
gnomAD
rs2073004970 1521 A>S No TOPMed
gnomAD
rs756803560 1521 A>V No ExAC
TOPMed
gnomAD
rs1439369531 1522 E>D No gnomAD
rs753345119 1524 G>* No ExAC
gnomAD
COSM1709857 1524 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3513819
rs753345119
1524 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
gnomAD
rs141906658 1526 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3421276
rs567549660
1526 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs141906658 1526 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs549223976 1527 I>M No 1000Genomes
ExAC
gnomAD
COSM705130 1528 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs143034615 1529 E>A No ESP
ExAC
TOPMed
gnomAD
COSM3889239 1529 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073004470 1531 E>G No TOPMed
rs763189527 1531 E>Q No ExAC
gnomAD
rs1447014813 1532 K>I No TOPMed
gnomAD
rs1356653143 1532 K>N No gnomAD
rs773410516 1533 I>K No ExAC
TOPMed
gnomAD
rs1220515537 1533 I>L No gnomAD
rs773410516 1533 I>T No ExAC
TOPMed
gnomAD
COSM975285 1534 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073004235 1534 K>R No Ensembl
rs748691127 1536 Q>H No ExAC
gnomAD
rs2073004180 1536 Q>K No Ensembl
rs2073004115 1537 V>I No TOPMed
rs776962006 1538 E>G No ExAC
gnomAD
rs1363921871 1538 E>K No TOPMed
rs1363921871 1538 E>Q No TOPMed
rs776962006 1538 E>V No ExAC
gnomAD
rs3764850
VAR_030194
1539 Q>H No UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs2073004007
COSM3957987
1539 Q>K lung [Cosmic] No cosmic curated
TOPMed
rs2073003971 1539 Q>R No TOPMed
rs1189712500
COSM975284
1540 E>* Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
COSM975283 1540 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2073003884 1540 E>G No Ensembl
rs867803552 1541 K>N No Ensembl
rs953333658 1541 K>T No TOPMed
gnomAD
rs921940295 1546 A>G No TOPMed
gnomAD
rs376217197 1549 E>D No ESP
ExAC
gnomAD
rs139117615 1549 E>Q No ESP
ExAC
TOPMed
gnomAD
rs2073003632 1550 E>K No TOPMed
gnomAD
rs758782200 1551 A>S No ExAC
TOPMed
gnomAD
rs758782200 1551 A>T No ExAC
TOPMed
gnomAD
rs748716200 1552 E>K No ExAC
TOPMed
gnomAD
rs1301215969 1553 A>E No gnomAD
rs1013700871 1553 A>P No TOPMed
gnomAD
rs1013700871 1553 A>S No TOPMed
gnomAD
rs574028621 1554 S>F No 1000Genomes
ExAC
gnomAD
rs1432935734 1554 S>T No TOPMed
gnomAD
rs1158730641 1556 E>G No gnomAD
rs1195789833 1556 E>K No TOPMed
rs781255683 1557 H>R No ExAC
gnomAD
rs2072996608 1559 E>G No Ensembl
COSM705131 1560 G>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs866511654 1560 G>E No Ensembl
TCGA novel 1561 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072996414 1563 L>P No gnomAD
rs555367957
COSM435997
1564 R>C Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM975282
rs750693945
1564 R>H Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1430894595 1565 I>S No TOPMed
rs2072996283 1566 Q>H No gnomAD
VAR_064735 1566 Q>K found in a renal cell carcinoma sample; somatic mutation [UniProt] No UniProt
rs765532005 1567 L>F No ExAC
gnomAD
TCGA novel 1568 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1206449099 1568 E>D No gnomAD
rs1466232010 1569 L>M No TOPMed
COSM4063841 1569 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1597434709 1570 N>K No TOPMed
rs762023477 1570 N>S No ExAC
gnomAD
rs149168401 1571 Q>E No ESP
ExAC
TOPMed
gnomAD
rs2072996066 1571 Q>R No Ensembl
rs764181020 1574 S>A No ExAC
gnomAD
rs1311243126 1575 E>K No gnomAD
rs2072995935 1578 R>G No TOPMed
rs1004813701 1578 R>K No Ensembl
rs2072995862 1578 R>S No TOPMed
rs2072995831 1579 K>R No Ensembl
rs1394703232 1582 E>* No TOPMed
rs2072995759 1582 E>D No TOPMed
COSM3513817 1582 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1394703232 1582 E>Q No TOPMed
rs1567715167 1584 D>G No Ensembl
rs2072995690 1584 D>N No TOPMed
rs761094305 1585 E>G No ExAC
gnomAD
COSM1709856 1586 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1182630992 1588 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1366037138 1588 D>H No gnomAD
TCGA novel 1588 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1319893254 1589 Q>R No gnomAD
TCGA novel 1590 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs369414239 1590 M>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1590 M>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072995458 1591 K>Q No Ensembl
rs1293937617 1592 R>* No gnomAD
COSM180587
rs1457247111
1592 R>K Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs774434295 1592 R>S No gnomAD
rs375353833 1594 H>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2072995276 1594 H>R No Ensembl
rs2072995246 1595 I>V No gnomAD
rs1211590351 1596 R>G No gnomAD
rs138249334 1597 I>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_036005
COSM33235
rs150456818
1598 V>M breast a breast cancer sample; somatic mutation [Cosmic, UniProt] No cosmic curated
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM4902572 1599 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM6080142 1599 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1186111577 1601 M>T No gnomAD
rs1314100189 1601 M>V No TOPMed
gnomAD
rs1040384969 1603 S>N No TOPMed
COSM6080143 1603 S>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs768144139 1604 T>S No ExAC
TOPMed
gnomAD
TCGA novel 1605 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1330779806 1606 D>A No gnomAD
rs1488369580 1606 D>E No TOPMed
gnomAD
rs780086960 1606 D>H No ExAC
gnomAD
rs1263984378 1608 E>K No gnomAD
rs371915730 1609 I>N No ESP
ExAC
gnomAD
COSM3513814 1610 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072994597 1614 D>H No gnomAD
rs2072994597 1614 D>Y No gnomAD
rs1487927355 1615 A>P No TOPMed
rs764112528 1615 A>V No ExAC
gnomAD
rs2072994478 1616 I>T No TOPMed
rs2072994390 1617 R>K No gnomAD
rs1299668733 1617 R>W No gnomAD
rs201498285 1618 L>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs1354093914
COSM4063840
1618 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs2072994231 1621 K>M No TOPMed
gnomAD
rs146890530 1621 K>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2072994054
COSM226334
1622 M>I NS [Cosmic] No cosmic curated
TOPMed
rs767981676 1622 M>L No ExAC
TOPMed
gnomAD
rs1197693577 1622 M>T No Ensembl
rs2142255723 1624 G>E No Ensembl
rs2142255727 1624 G>R No Ensembl
rs1377644734 1625 D>E No gnomAD
rs1160887737 1625 D>N No TOPMed
gnomAD
rs759958840 1627 N>D No ExAC
TOPMed
gnomAD
rs201388550 1627 N>S No ESP
ExAC
TOPMed
gnomAD
COSM3513813 1628 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2142255693 1629 M>I No Ensembl
rs140831508 1629 M>V No ESP
ExAC
TOPMed
gnomAD
COSM3513812 1630 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770768193 1631 I>F No Ensembl
rs1369853869 1631 I>T No TOPMed
rs1387477594 1632 Q>R No TOPMed
gnomAD
rs1483695571 1634 N>H No gnomAD
rs776303869 1634 N>K No ExAC
TOPMed
gnomAD
rs1329623062 1636 A>T No Ensembl
rs969335655 1637 N>K No Ensembl
rs1597434569 1637 N>T No Ensembl
rs201002878
COSM75506
1638 R>C ovary large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs201002878 1638 R>G No ExAC
TOPMed
gnomAD
rs146429782 1638 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM365699
rs146429782
1638 R>L lung [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201002878 1638 R>S No ExAC
TOPMed
gnomAD
COSM6080144 1639 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs749263409 1639 M>L No ExAC
TOPMed
gnomAD
rs2072993209 1639 M>T No Ensembl
rs749263409 1639 M>V No ExAC
TOPMed
gnomAD
rs778581504 1640 A>V No ExAC
gnomAD
rs2072993136 1641 A>T No Ensembl
rs1410178294 1642 E>D No TOPMed
gnomAD
rs756229241 1643 A>D No ExAC
TOPMed
gnomAD
rs756229241 1643 A>G No ExAC
TOPMed
gnomAD
rs757040802 1643 A>S No ExAC
gnomAD
rs757040802 1643 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs756229241 1643 A>V No ExAC
TOPMed
gnomAD
rs2142255578 1645 R>K No Ensembl
rs752770681 1646 N>I No ExAC
gnomAD
rs2072992881 1647 Y>C No TOPMed
rs2072992809 1648 R>K No TOPMed
rs2072992778 1648 R>S No Ensembl
TCGA novel 1648 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1649 N>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1171478960 1649 N>K No gnomAD
rs1015171831 1650 T>I No Ensembl
rs1597434544 1650 T>P No Ensembl
rs752038031 1651 Q>* No ExAC
TOPMed
gnomAD
rs766685286 1652 A>G No ExAC
TOPMed
gnomAD
rs763324729 1655 K>R No ExAC
TOPMed
gnomAD
rs2072991303 1657 T>A No Ensembl
rs758727515 1657 T>I No ExAC
TOPMed
gnomAD
rs758727515 1657 T>N No ExAC
TOPMed
gnomAD
rs199719596 1658 Q>* No gnomAD
rs199719596 1658 Q>E No gnomAD
rs142545737 1659 L>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs2072991080 1660 H>Q No TOPMed
rs775247676 1662 D>N No ExAC
gnomAD
rs1322318142 1664 A>D No TOPMed
rs759064140 1664 A>T No ExAC
TOPMed
gnomAD
rs373012770 1665 L>F No ESP
ExAC
TOPMed
gnomAD
rs373012770 1665 L>V No ESP
ExAC
TOPMed
gnomAD
rs773071362 1666 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
COSM975281 1666 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs769510752 1666 R>P No ExAC
TOPMed
gnomAD
rs769510752
COSM975280
1666 R>Q Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM472278
rs773071362
1666 R>W kidney Variant assessed as Somatic; MODERATE impact. pancreas [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs894091647 1667 S>N No Ensembl
COSM368637 1668 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072990540 1668 Q>R No TOPMed
COSM3513810 1669 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs781342950 1669 E>K No ExAC
TOPMed
gnomAD
rs768768822 1670 D>E No ExAC
TOPMed
gnomAD
rs1244643978 1672 K>R No Ensembl
rs747076910 1673 E>K No ExAC
gnomAD
rs747076910 1673 E>Q No ExAC
gnomAD
COSM6080145 1676 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs531052694 1676 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs369136549 1677 M>T No ESP
ExAC
TOPMed
gnomAD
rs1597434407 1678 V>G No Ensembl
rs148432308 1679 E>G No ESP
ExAC
TOPMed
gnomAD
rs1392171754 1679 E>Q No gnomAD
rs757650153 1680 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs757650153 1680 R>G No ExAC
TOPMed
gnomAD
COSM435996
rs201766006
1680 R>H Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1223998404 1681 R>S No gnomAD
rs767247683 1682 A>D No ExAC
TOPMed
gnomAD
rs1208063187 1683 N>K No TOPMed
gnomAD
rs759036108 1683 N>S No ExAC
gnomAD
rs2072989754 1685 L>V No gnomAD
rs907753151 1686 Q>* No TOPMed
gnomAD
rs907753151 1686 Q>K No TOPMed
gnomAD
rs2142255234 1687 A>D No Ensembl
TCGA novel 1688 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs769599599
COSM4550674
1690 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769599599 1690 E>Q No ExAC
TOPMed
gnomAD
rs983778319 1691 E>* No TOPMed
rs983778319 1691 E>K No TOPMed
rs954547781 1691 E>V No Ensembl
rs980224192
COSM1380783
1693 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs150177053 1693 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1404154009 1694 A>D No TOPMed
gnomAD
rs2072989340 1694 A>T No TOPMed
rs776875695 1695 T>P No ExAC
TOPMed
gnomAD
COSM3818793 1696 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM6145623 1697 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1698 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2142255173 1698 Q>R No Ensembl
rs1169348766 1699 T>A No gnomAD
rs574898089 1699 T>I No 1000Genomes
ExAC
gnomAD
rs189070988 1700 E>D No 1000Genomes
ESP
TOPMed
gnomAD
COSM3513809 1700 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1193144705 1701 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs747114191 1701 R>K No ExAC
gnomAD
rs2142255130 1702 S>R No Ensembl
rs779544532
COSM3402586
1706 A>T Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1280039787 1706 A>V No TOPMed
gnomAD
rs2072988681 1708 Q>* No TOPMed
rs1219510364
TCGA novel
1708 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No gnomAD
NCI-TCGA
rs267604709 1709 E>K No gnomAD
rs267604709 1709 E>Q No gnomAD
TCGA novel 1711 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2142255078 1711 L>P No Ensembl
rs754251100 1712 D>G No ExAC
TOPMed
gnomAD
COSM333572 1712 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1478841276 1713 A>G No TOPMed
rs375102610 1713 A>T No ESP
ExAC
TOPMed
gnomAD
rs1423112722 1714 S>N No TOPMed
rs140602452 1715 E>Q No ESP
TOPMed
rs1077841
VAR_030195
1716 R>C No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs192471819 1716 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs1178311471 1717 V>I No gnomAD
rs907527733 1718 Q>H No TOPMed
rs1310963657 1719 L>F No Ensembl
rs2072987987 1720 L>P No TOPMed
rs750409153 1722 T>P No ExAC
gnomAD
COSM3957985
rs2142254985
1723 Q>* lung [Cosmic] No cosmic curated
Ensembl
TCGA novel 1724 N>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs138994893 1726 S>N No ESP
ExAC
TOPMed
gnomAD
rs1235182316 1727 L>P No TOPMed
gnomAD
rs2072977935 1727 L>V No Ensembl
rs371788103 1728 I>N No ESP
ExAC
TOPMed
gnomAD
rs371788103 1728 I>T No ESP
ExAC
TOPMed
gnomAD
rs551559969 1729 N>D No ExAC
TOPMed
gnomAD
TCGA novel 1729 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs765213511 1731 K>Q No ExAC
gnomAD
rs1012337672 1734 L>P No Ensembl
rs868547373 1735 E>* No gnomAD
COSM1324187 1735 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs868547373 1735 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs541402684 1736 T>K No 1000Genomes
ExAC
gnomAD
rs541402684 1736 T>R No 1000Genomes
ExAC
gnomAD
rs763975466 1736 T>S No ExAC
TOPMed
gnomAD
rs1313001390 1738 I>F No gnomAD
rs2072977157 1738 I>S No TOPMed
rs1597433898 1739 S>A No Ensembl
COSM1709854
rs1597433895
1739 S>F Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1232221992 1740 Q>L No TOPMed
gnomAD
rs759747876 1741 I>M No ExAC
gnomAD
rs2072976951 1742 Q>* No Ensembl
rs771070275 1742 Q>H No ExAC
TOPMed
gnomAD
rs1319686709 1743 G>* No gnomAD
rs1451396390
COSM705134
1743 G>E lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1319686709 1743 G>R No gnomAD
rs749841668 1744 E>D No ExAC
TOPMed
gnomAD
rs940225995 1745 M>T No TOPMed
gnomAD
rs770242183 1747 D>V No ExAC
TOPMed
gnomAD
rs1431578495 1748 I>N No gnomAD
rs1431578495 1748 I>T No gnomAD
rs748430464 1748 I>V No ExAC
TOPMed
rs758029655 1749 I>L No ExAC
gnomAD
rs758029655 1749 I>V No ExAC
gnomAD
rs1390197403 1751 E>G No gnomAD
TCGA novel 1752 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM975278
rs745461898
1753 R>C endometrium [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs778397124 1753 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs778397124 1753 R>L No ExAC
TOPMed
gnomAD
rs2072976307 1754 N>D No Ensembl
rs756709927 1754 N>S No ExAC
TOPMed
gnomAD
rs2142253871 1757 E>K No Ensembl
COSM3402585 1757 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM975277 1760 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1467402715 1761 K>R No Ensembl
rs753825237 1764 T>I No ExAC
TOPMed
gnomAD
rs1192114177 1765 D>E No TOPMed
gnomAD
COSM6145625 1765 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs141867810 1766 A>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148125991 1766 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3513805 1768 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM180586
rs1411514954
1768 M>T large_intestine [Cosmic] No cosmic curated
gnomAD
rs1273924819 1768 M>V No TOPMed
gnomAD
rs143757824 1769 M>T No ESP
ExAC
TOPMed
gnomAD
rs780882788 1769 M>V No ExAC
gnomAD
rs751875888 1770 A>V No ExAC
gnomAD
rs2072974497 1772 E>* No TOPMed
gnomAD
rs763187441 1772 E>A No ExAC
TOPMed
gnomAD
rs2072974497 1772 E>K No TOPMed
gnomAD
rs763187441 1772 E>V No ExAC
TOPMed
gnomAD
COSM1324188 1776 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs141339850
COSM109277
1776 E>K Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs956005247 1777 Q>E No TOPMed
rs375606470 1778 D>G No ESP
ExAC
TOPMed
gnomAD
COSM3513804
rs369514452
1778 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369514452 1778 D>Y No 1000Genomes
ExAC
TOPMed
gnomAD
rs1269228506 1779 T>N No TOPMed
gnomAD
rs770557823 1781 A>S No ExAC
TOPMed
gnomAD
COSM975276
rs770557823
1781 A>T Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748917868 1782 H>D No ExAC
TOPMed
gnomAD
rs777156430 1782 H>L No ExAC
gnomAD
rs748917868 1782 H>N No ExAC
TOPMed
gnomAD
rs748060601 1784 E>* No ExAC
gnomAD
rs754857698 1784 E>D No ExAC
TOPMed
gnomAD
rs2072973882 1784 E>G No TOPMed
gnomAD
rs748060601 1784 E>Q No ExAC
gnomAD
rs139004562 1785 R>G No ESP
ExAC
TOPMed
gnomAD
rs370889656 1785 R>P No ESP
ExAC
TOPMed
gnomAD
rs370889656
COSM3513803
1785 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs139004562
COSM5055207
1785 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1597433708 1789 N>T No Ensembl
rs750590975 1790 L>P No ExAC
TOPMed
gnomAD
COSM4394124 1791 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2142253575 1791 E>Q No Ensembl
TCGA novel
rs2072973523
1792 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs202246274
COSM1380782
1793 T>M Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1567714341 1794 V>A No Ensembl
rs2142253558 1794 V>M No Ensembl
rs754344353 1795 K>N No ExAC
gnomAD
rs2072973344 1795 K>R No TOPMed
gnomAD
rs930372626 1796 D>A No TOPMed
gnomAD
rs930372626 1796 D>G No TOPMed
gnomAD
rs761086840 1797 L>P No ExAC
gnomAD
rs761086840 1797 L>R No ExAC
gnomAD
rs1397303939 1798 Q>H No gnomAD
rs376360977 1799 H>L No Ensembl
rs376360977 1799 H>R No Ensembl
COSM4898655
rs377494042
1800 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
gnomAD
rs377494042 1800 R>G No ESP
ExAC
gnomAD
COSM116783
rs145148453
1800 R>H ovary [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs750670553 1802 D>G No ExAC
TOPMed
gnomAD
rs750670553 1802 D>V No ExAC
TOPMed
gnomAD
COSM4853211 1803 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1161808958 1805 E>K No gnomAD
rs140873918 1806 Q>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs1363758787 1807 L>R No TOPMed
gnomAD
rs747660770 1808 A>G No ExAC
TOPMed
gnomAD
COSM5972035 1808 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs747660770 1808 A>V No ExAC
TOPMed
gnomAD
rs776772381 1809 L>P No ExAC
gnomAD
COSM1479214 1809 L>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1597433636 1810 K>E No Ensembl
rs746885742 1811 G>A No ExAC
gnomAD
rs2072972319 1812 G>R No TOPMed
rs779998753 1813 K>E No ExAC
TOPMed
gnomAD
rs1209093092 1816 I>T No gnomAD
rs1372154444 1817 Q>H No TOPMed
gnomAD
rs146410774 1821 A>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1234094684 1821 A>S No TOPMed
rs1246831492 1822 R>S No TOPMed
gnomAD
rs1169475148 1823 V>A No gnomAD
rs1392042407 1823 V>F No TOPMed
gnomAD
rs1392042407 1823 V>I No TOPMed
gnomAD
rs376061795
COSM975275
1824 R>C Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
NCI-TCGA
TOPMed
gnomAD
rs373056400 1824 R>H No ESP
ExAC
TOPMed
gnomAD
rs201535361 1825 E>* No Ensembl
rs1210917470 1827 E>K No TOPMed
rs2142252990 1828 G>A No Ensembl
rs267604708 1830 V>A No TOPMed
rs776155566 1830 V>F No ExAC
TOPMed
gnomAD
rs776155566 1830 V>L No ExAC
TOPMed
gnomAD
rs369738946 1831 E>A No ESP
ExAC
TOPMed
gnomAD
rs1373349352 1832 S>R No TOPMed
rs2072968540 1834 Q>L No TOPMed
rs751936469
COSM4983437
1836 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751936469 1836 R>G No ExAC
TOPMed
gnomAD
rs376702386 1836 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs901830753 1838 V>A No TOPMed
gnomAD
rs901830753 1838 V>G No TOPMed
gnomAD
COSM4397773 1839 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2142252941 1840 A>T No Ensembl
rs1597433456 1843 G>D No Ensembl
rs1039075314
COSM1582330
1845 R>C Variant assessed as Somatic; MODERATE impact. stomach [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1039075314 1845 R>G No TOPMed
gnomAD
rs763718197
COSM5009284
1845 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1039075314 1845 R>S No TOPMed
gnomAD
rs199988970 1846 K>E No 1000Genomes
rs775638553 1847 H>L No ExAC
gnomAD
rs775638553 1847 H>P No ExAC
gnomAD
rs775638553 1847 H>R No ExAC
gnomAD
rs772034673 1848 E>K No ExAC
gnomAD
rs1597433438 1850 K>R No Ensembl
rs201016485 1851 V>M No 1000Genomes
rs575159783 1853 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3513799 1853 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1403570416 1854 L>H No gnomAD
rs1403570416 1854 L>P No gnomAD
rs774201277 1855 T>I No ExAC
TOPMed
gnomAD
COSM1520160
COSM6145626
rs774201277
1855 T>S lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760321585 1858 T>A No ExAC
TOPMed
gnomAD
rs1256875594 1859 E>K No TOPMed
gnomAD
rs1567714039 1860 E>D No gnomAD
rs752265147 1860 E>K No ExAC
gnomAD
rs151180649 1861 D>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201454258 1862 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs770764395
COSM1630049
1862 R>H liver [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs770764395 1862 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs201454258 1862 R>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs762709228 1863 K>R No ExAC
TOPMed
gnomAD
rs1238637176 1864 N>S No gnomAD
rs959607445 1865 I>M No gnomAD
rs769987342 1866 L>F No ExAC
TOPMed
gnomAD
rs2142252721 1867 R>S No 1000Genomes
COSM6080147 1867 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs200755710 1868 L>H No 1000Genomes
TOPMed
gnomAD
rs200755710 1868 L>P No 1000Genomes
TOPMed
gnomAD
rs200755710 1868 L>R No 1000Genomes
TOPMed
gnomAD
rs1262966974 1870 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs2072965787 1872 V>A No Ensembl
rs1308355071 1872 V>M No TOPMed
gnomAD
rs768577746 1873 D>E No ExAC
TOPMed
gnomAD
rs370097795 1875 L>P No ESP
rs370097795 1875 L>Q No ESP
rs113094707 1876 Q>* No Ensembl
rs747573196 1877 A>T No ExAC
gnomAD
rs534377341 1878 K>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs2072965480 1879 V>G No TOPMed
gnomAD
rs1405580405 1879 V>L No gnomAD
rs1405580405 1879 V>M No gnomAD
rs758872080 1880 K>Q No ExAC
gnomAD
COSM1709853 1881 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs746223405 1882 Y>C No ExAC
gnomAD
rs985077861 1882 Y>H No Ensembl
rs2072965329 1883 K>R No TOPMed
gnomAD
rs142153967 1884 R>K No ESP
ExAC
TOPMed
gnomAD
rs142153967 1884 R>T No ESP
ExAC
TOPMed
gnomAD
rs140473978 1885 Q>* No ESP
TOPMed
gnomAD
rs2072965156 1886 A>T No TOPMed
gnomAD
COSM6145627 1888 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1398879315 1888 E>Q No TOPMed
gnomAD
rs147195989 1889 A>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147195989 1889 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776950904 1891 E>D No ExAC
TOPMed
gnomAD
COSM5718440 1891 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs761490755 1891 E>V No ExAC
TOPMed
gnomAD
rs1294635751 1892 Q>* No gnomAD
rs1294635751 1892 Q>K No gnomAD
rs937317101 1892 Q>R No Ensembl
rs746337549 1893 S>F No ExAC
gnomAD
rs764216553 1893 S>P No ExAC
TOPMed
gnomAD
rs746337549 1893 S>Y No ExAC
gnomAD
rs760143687 1895 V>I No ExAC
TOPMed
gnomAD
rs1309290286 1896 N>S No TOPMed
gnomAD
rs868459535
COSM975274
1897 L>F Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs1462211812 1897 L>P No gnomAD
rs1468215277 1899 K>R No gnomAD
rs556246573
COSM5933612
1901 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM975273
rs749613856
1901 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1597432519 1902 R>K No TOPMed
rs149572767 1903 I>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1567713452 1904 Q>* No Ensembl
rs1200867009 1904 Q>P No gnomAD
rs2072945341 1905 H>N No Ensembl
rs368680249
COSM3513797
1906 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757851801 1908 E>Q No ExAC
TOPMed
gnomAD
rs778789491 1909 E>G No ExAC
gnomAD
rs370223448 1909 E>Q No ESP
ExAC
TOPMed
gnomAD
rs199500054 1910 A>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs199500054 1910 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs199500054 1910 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs771127734 1910 A>V No TOPMed
gnomAD
rs375954606 1911 E>K No ESP
ExAC
TOPMed
gnomAD
TCGA novel 1912 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM2925048 1912 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs150858988 1913 R>G No ESP
ExAC
TOPMed
gnomAD
rs200090517 1913 R>P No ExAC
TOPMed
gnomAD
rs200090517 1913 R>Q No ExAC
TOPMed
gnomAD
rs150858988 1913 R>W No ESP
ExAC
TOPMed
gnomAD
rs759661049 1914 A>T No ExAC
gnomAD
rs775067867 1916 I>N No ExAC
TOPMed
gnomAD
rs775067867 1916 I>T No ExAC
TOPMed
gnomAD
rs867789092 1916 I>V No Ensembl
rs370774399 1917 A>P No ESP
ExAC
TOPMed
gnomAD
rs370774399 1917 A>S No ESP
ExAC
TOPMed
gnomAD
COSM4941170 1917 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072944403 1918 E>A No TOPMed
rs2072944356 1918 E>D No Ensembl
rs536586200 1919 S>C No 1000Genomes
ExAC
gnomAD
rs536586200 1919 S>F No 1000Genomes
ExAC
gnomAD
rs949786606 1919 S>P No TOPMed
gnomAD
rs949786606 1919 S>T No TOPMed
gnomAD
rs536586200 1919 S>Y No 1000Genomes
ExAC
gnomAD
rs1408839092 1922 N>K No gnomAD
COSM1302401 1923 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1177577426 1924 L>R No gnomAD
rs918254716 1924 L>V No TOPMed
gnomAD
rs1480421636 1925 R>K No gnomAD
rs2072943826 1926 V>E No Ensembl
rs1430421511 1928 S>N No TOPMed
gnomAD
rs1597432439 1931 V>I No Ensembl
rs2072943623 1932 H>R No Ensembl
rs2072943486 1933 T>A No TOPMed
rs1249824117 1933 T>I No gnomAD
rs1249824117 1933 T>K No gnomAD
rs1567713390 1934 K>E No TOPMed
rs770151980 1935 I>V No ExAC
gnomAD
rs1597432418 1936 I>R No Ensembl
rs2142249922 1936 I>V No Ensembl
TCGA novel 1937 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs771610502 1937 S>N No ExAC
TOPMed
gnomAD
rs745375501 1937 S>R No ExAC
TOPMed
gnomAD
rs771610502 1937 S>T No ExAC
TOPMed
gnomAD
COSM4553133 1938 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs985793688 1939 E>G No TOPMed
rs778877740 1939 E>K No ExAC
TOPMed
gnomAD
rs757148135 1940 E>E No ExAC
gnomAD

No associated diseases with P12882

7 regional properties for P12882

Type Name Position InterPro Accession
domain Protein kinase domain 34 - 299 IPR000719
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 111 - 124 IPR001245-1
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 151 - 169 IPR001245-2
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 217 - 239 IPR001245-3
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 263 - 285 IPR001245-4
active_site Serine/threonine-protein kinase, active site 157 - 169 IPR008271
binding_site Protein kinase, ATP binding site 40 - 63 IPR017441

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, myofibril
  • Thick filaments of the myofibrils
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
A band The dark-staining region of a sarcomere, in which myosin thick filaments are present; the center is traversed by the paler H zone, which in turn contains the M line.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic ribonucleoprotein granule A ribonucleoprotein granule located in the cytoplasm.
intercalated disc A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells.
muscle myosin complex A filament of myosin found in a muscle cell of any type.
myosin filament A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament.
myosin II complex A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures.

4 GO annotations of molecular function

Name Definition
actin filament binding Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calmodulin binding Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
microfilament motor activity A motor activity that generates movement along a microfilament, driven by ATP hydrolysis.

1 GO annotations of biological process

Name Definition
muscle contraction A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis.

46 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9BE41 MYH2 Myosin-2 Bos taurus (Bovine) SS
Q27991 MYH10 Myosin-10 Bos taurus (Bovine) SS
Q9BE39 MYH7 Myosin-7 Bos taurus (Bovine) SS
Q9BE40 MYH1 Myosin-1 Bos taurus (Bovine) SS
P10587 MYH11 Myosin-11 Gallus gallus (Chicken) SS
P14105 MYH9 Myosin-9 Gallus gallus (Chicken) SS
P13538 Myosin heavy chain, skeletal muscle, adult Gallus gallus (Chicken) SS
P02565 MYH1B Myosin-1B Gallus gallus (Chicken) SS
Q99323 zip Myosin heavy chain, non-muscle Drosophila melanogaster (Fruit fly) SS
P05661 Mhc Myosin heavy chain, muscle Drosophila melanogaster (Fruit fly) SS
A7E2Y1 MYH7B Myosin-7B Homo sapiens (Human) SS
P11055 MYH3 Myosin-3 Homo sapiens (Human) SS
P12883 MYH7 Myosin-7 Homo sapiens (Human) EV
P13533 MYH6 Myosin-6 Homo sapiens (Human) SS
P13535 MYH8 Myosin-8 Homo sapiens (Human) SS
Q9UKX3 MYH13 Myosin-13 Homo sapiens (Human) SS
Q9Y2K3 MYH15 Myosin-15 Homo sapiens (Human) SS
Q9Y623 MYH4 Myosin-4 Homo sapiens (Human) SS
Q9UKX2 MYH2 Myosin-2 Homo sapiens (Human) SS
P35580 MYH10 Myosin-10 Homo sapiens (Human) SS
P35749 MYH11 Myosin-11 Homo sapiens (Human) SS
P35579 MYH9 Myosin-9 Homo sapiens (Human) SS
Q7Z406 MYH14 Myosin-14 Homo sapiens (Human) SS
Q8VDD5 Myh9 Myosin-9 Mus musculus (Mouse) SS
Q5SX39 Myh4 Myosin-4 Mus musculus (Mouse) SS
P13542 Myh8 Myosin-8 Mus musculus (Mouse) SS
Q02566 Myh6 Myosin-6 Mus musculus (Mouse) SS
O08638 Myh11 Myosin-11 Mus musculus (Mouse) SS
A2AQP0 Myh7b Myosin-7B Mus musculus (Mouse) SS
Q61879 Myh10 Myosin-10 Mus musculus (Mouse) SS
Q91Z83 Myh7 Myosin-7 Mus musculus (Mouse) SS
Q6URW6 Myh14 Myosin-14 Mus musculus (Mouse) SS
P13541 Myh3 Myosin-3 Mus musculus (Mouse) SS
Q5SX40 Myh1 Myosin-1 Mus musculus (Mouse) SS
P79293 MYH7 Myosin-7 Sus scrofa (Pig) SS
Q9TV63 MYH2 Myosin-2 Sus scrofa (Pig) SS
P12847 Myh3 Myosin-3 Rattus norvegicus (Rat) SS
P02563 Myh6 Myosin-6 Rattus norvegicus (Rat) SS
P02564 Myh7 Myosin-7 Rattus norvegicus (Rat) SS
Q62812 Myh9 Myosin-9 Rattus norvegicus (Rat) SS
Q29RW1 Myh4 Myosin-4 Rattus norvegicus (Rat) SS
Q9JLT0 Myh10 Myosin-10 Rattus norvegicus (Rat) SS
P02566 unc-54 Myosin-4 Caenorhabditis elegans SS
P02567 myo-1 Myosin-1 Caenorhabditis elegans SS
P12844 myo-3 Myosin-3 Caenorhabditis elegans SS
P12845 myo-2 Myosin-2 Caenorhabditis elegans SS
10 20 30 40 50 60
MSSDSEMAIF GEAAPFLRKS ERERIEAQNK PFDAKTSVFV VDPKESFVKA TVQSREGGKV
70 80 90 100 110 120
TAKTEAGATV TVKDDQVFPM NPPKYDKIED MAMMTHLHEP AVLYNLKERY AAWMIYTYSG
130 140 150 160 170 180
LFCVTVNPYK WLPVYNAEVV TAYRGKKRQE APPHIFSISD NAYQFMLTDR ENQSILITGE
190 200 210 220 230 240
SGAGKTVNTK RVIQYFATIA VTGEKKKEEV TSGKMQGTLE DQIISANPLL EAFGNAKTVR
250 260 270 280 290 300
NDNSSRFGKF IRIHFGTTGK LASADIETYL LEKSRVTFQL KAERSYHIFY QIMSNKKPDL
310 320 330 340 350 360
IEMLLITTNP YDYAFVSQGE ITVPSIDDQE ELMATDSAIE ILGFTSDERV SIYKLTGAVM
370 380 390 400 410 420
HYGNMKFKQK QREEQAEPDG TEVADKAAYL QNLNSADLLK ALCYPRVKVG NEYVTKGQTV
430 440 450 460 470 480
QQVYNAVGAL AKAVYDKMFL WMVTRINQQL DTKQPRQYFI GVLDIAGFEI FDFNSLEQLC
490 500 510 520 530 540
INFTNEKLQQ FFNHHMFVLE QEEYKKEGIE WTFIDFGMDL AACIELIEKP MGIFSILEEE
550 560 570 580 590 600
CMFPKATDTS FKNKLYEQHL GKSNNFQKPK PAKGKPEAHF SLIHYAGTVD YNIAGWLDKN
610 620 630 640 650 660
KDPLNETVVG LYQKSAMKTL ALLFVGATGA EAEAGGGKKG GKKKGSSFQT VSALFRENLN
670 680 690 700 710 720
KLMTNLRSTH PHFVRCIIPN ETKTPGAMEH ELVLHQLRCN GVLEGIRICR KGFPSRILYA
730 740 750 760 770 780
DFKQRYKVLN ASAIPEGQFI DSKKASEKLL GSIDIDHTQY KFGHTKVFFK AGLLGLLEEM
790 800 810 820 830 840
RDEKLAQLIT RTQAMCRGFL ARVEYQKMVE RRESIFCIQY NVRAFMNVKH WPWMKLYFKI
850 860 870 880 890 900
KPLLKSAETE KEMANMKEEF EKTKEELAKT EAKRKELEEK MVTLMQEKND LQLQVQAEAD
910 920 930 940 950 960
SLADAEERCD QLIKTKIQLE AKIKEVTERA EDEEEINAEL TAKKRKLEDE CSELKKDIDD
970 980 990 1000 1010 1020
LELTLAKVEK EKHATENKVK NLTEEMAGLD ETIAKLTKEK KALQEAHQQT LDDLQAEEDK
1030 1040 1050 1060 1070 1080
VNTLTKAKIK LEQQVDDLEG SLEQEKKIRM DLERAKRKLE GDLKLAQEST MDIENDKQQL
1090 1100 1110 1120 1130 1140
DEKLKKKEFE MSGLQSKIED EQALGMQLQK KIKELQARIE ELEEEIEAER ASRAKAEKQR
1150 1160 1170 1180 1190 1200
SDLSRELEEI SERLEEAGGA TSAQIEMNKK REAEFQKMRR DLEEATLQHE ATAATLRKKH
1210 1220 1230 1240 1250 1260
ADSVAELGEQ IDNLQRVKQK LEKEKSEMKM EIDDLASNME TVSKAKGNLE KMCRALEDQL
1270 1280 1290 1300 1310 1320
SEIKTKEEEQ QRLINDLTAQ RARLQTESGE YSRQLDEKDT LVSQLSRGKQ AFTQQIEELK
1330 1340 1350 1360 1370 1380
RQLEEEIKAK SALAHALQSS RHDCDLLREQ YEEEQEAKAE LQRAMSKANS EVAQWRTKYE
1390 1400 1410 1420 1430 1440
TDAIQRTEEL EEAKKKLAQR LQDAEEHVEA VNAKCASLEK TKQRLQNEVE DLMIDVERTN
1450 1460 1470 1480 1490 1500
AACAALDKKQ RNFDKILAEW KQKCEETHAE LEASQKESRS LSTELFKIKN AYEESLDQLE
1510 1520 1530 1540 1550 1560
TLKRENKNLQ QEISDLTEQI AEGGKRIHEL EKIKKQVEQE KSELQAALEE AEASLEHEEG
1570 1580 1590 1600 1610 1620
KILRIQLELN QVKSEVDRKI AEKDEEIDQM KRNHIRIVES MQSTLDAEIR SRNDAIRLKK
1630 1640 1650 1660 1670 1680
KMEGDLNEME IQLNHANRMA AEALRNYRNT QAILKDTQLH LDDALRSQED LKEQLAMVER
1690 1700 1710 1720 1730 1740
RANLLQAEIE ELRATLEQTE RSRKIAEQEL LDASERVQLL HTQNTSLINT KKKLETDISQ
1750 1760 1770 1780 1790 1800
IQGEMEDIIQ EARNAEEKAK KAITDAAMMA EELKKEQDTS AHLERMKKNL EQTVKDLQHR
1810 1820 1830 1840 1850 1860
LDEAEQLALK GGKKQIQKLE ARVRELEGEV ESEQKRNVEA VKGLRKHERK VKELTYQTEE
1870 1880 1890 1900 1910 1920
DRKNILRLQD LVDKLQAKVK SYKRQAEEAE EQSNVNLSKF RRIQHELEEA EERADIAESQ
1930
VNKLRVKSRE VHTKIISEE