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 Q9Y623

Entry ID Method Resolution Chain Position Source
AF-Q9Y623-F1 Predicted AlphaFoldDB

2318 variants for Q9Y623

Variant ID(s) Position Change Description Diseaes Association Provenance
rs2072772718 2 S>C No gnomAD
rs1359475796 3 S>C No gnomAD
rs1359475796 3 S>F No gnomAD
rs770428124 3 S>T No ExAC
gnomAD
rs377285217 4 D>N No ESP
TOPMed
gnomAD
rs868721230 5 S>F No Ensembl
rs1449931934 5 S>P No TOPMed
gnomAD
rs1449931934 5 S>T No TOPMed
gnomAD
rs868721230 5 S>Y No Ensembl
rs777738860 6 E>D No ExAC
TOPMed
gnomAD
rs2072772447 6 E>K No gnomAD
rs1383307762 7 M>T No gnomAD
TCGA novel 10 F>L Variant assessed as Somatic; HIGH impact. Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1322027113 10 F>S No TOPMed
gnomAD
rs1044023429 11 G>E No gnomAD
rs756042927 11 G>R No ExAC
gnomAD
rs1044023429 11 G>V No gnomAD
rs747948486 12 E>A No ExAC
TOPMed
gnomAD
rs375569040 12 E>K No ESP
TOPMed
gnomAD
rs781080342 13 A>P No ExAC
TOPMed
gnomAD
rs781080342 13 A>S No ExAC
TOPMed
gnomAD
rs2072772137 14 A>V No TOPMed
rs1163250734 15 P>S No gnomAD
rs2072772074 16 F>L No Ensembl
rs373223401
COSM3969804
18 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM5733320
rs751788154
18 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
rs914038789 20 S>P No Ensembl
COSM3513796 21 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1243685279 21 E>V No gnomAD
rs2072771752 22 K>R No TOPMed
rs766388862 23 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs774558015 24 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs939415421 24 R>L No TOPMed
gnomAD
COSM1686246
rs939415421
24 R>Q Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs765768632 25 I>T No ExAC
TOPMed
gnomAD
rs750932512 25 I>V No ExAC
gnomAD
rs2072771484 26 E>K No gnomAD
rs1290394447 27 A>V No gnomAD
rs776992473 28 Q>H No ExAC
gnomAD
rs1453075499 29 N>K No gnomAD
rs2072771296 30 K>M No Ensembl
TCGA novel 31 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1424713706 32 F>S No TOPMed
gnomAD
rs1228641448 32 F>V No gnomAD
rs368975834 33 D>E No ESP
ExAC
gnomAD
rs748830032 34 A>D No ExAC
TOPMed
gnomAD
rs748830032 34 A>G No ExAC
TOPMed
gnomAD
rs774033944 34 A>S No ExAC
gnomAD
rs748830032 34 A>V No ExAC
TOPMed
gnomAD
COSM5009283
rs1367205728
35 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
gnomAD
rs1464040003 36 T>I No TOPMed
gnomAD
rs1276154155 40 V>L No gnomAD
rs2072770854 41 V>A No TOPMed
rs2072770884 41 V>M No gnomAD
rs1302608656 43 P>S No gnomAD
rs1302608656 43 P>T No gnomAD
rs1228582323 45 E>A No gnomAD
TCGA novel 45 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072770723 46 S>F No TOPMed
rs2142234575 47 Y>F No Ensembl
rs781161200 48 V>L No ExAC
gnomAD
rs781161200 48 V>M No ExAC
gnomAD
rs2072770570 49 K>Q No TOPMed
rs2072770543 50 A>E No Ensembl
rs2142234547 51 I>T No Ensembl
rs2072770517 51 I>V No TOPMed
rs1438206654 52 V>A No gnomAD
rs1474968893 52 V>M No gnomAD
rs1490489730 53 Q>H No TOPMed
gnomAD
rs2072770373 53 Q>K No TOPMed
rs754767744 53 Q>L No ExAC
gnomAD
rs952118058 56 E>K No gnomAD
rs371573424 57 G>A No ESP
ExAC
TOPMed
gnomAD
rs371573424 57 G>E No ESP
ExAC
TOPMed
gnomAD
rs780288488 57 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs371573424 57 G>V No ESP
ExAC
TOPMed
gnomAD
rs780288488 57 G>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1194805206 58 G>E No TOPMed
gnomAD
rs138503520 58 G>R No ESP
ExAC
TOPMed
gnomAD
rs1482748292 59 K>E No TOPMed
gnomAD
TCGA novel 59 K>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2072769992 60 V>M No TOPMed
rs1276681449 61 T>A No gnomAD
rs760998879 61 T>I No ExAC
TOPMed
gnomAD
rs1276681449 61 T>S No gnomAD
rs148833814
COSM3988759
62 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2072769804 62 A>V No Ensembl
rs2072769736 64 T>A No TOPMed
rs568753493 64 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs762459588 65 E>K No ExAC
TOPMed
gnomAD
rs762459588 65 E>Q No ExAC
TOPMed
gnomAD
rs997365388 67 G>R No TOPMed
gnomAD
rs200355989 68 A>T No 1000Genomes
rs1863214670
COSM3722660
68 A>V upper_aerodigestive_tract [Cosmic] No cosmic curated
Ensembl
COSM1493785 69 T>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1290019056 71 T>N No TOPMed
rs2142234242 75 D>E No Ensembl
rs1441290618 76 Q>* No TOPMed
gnomAD
rs1441290618 76 Q>E No TOPMed
gnomAD
rs1441290618 76 Q>K No TOPMed
gnomAD
rs778250029 76 Q>R No ExAC
gnomAD
rs564085770 78 F>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs2072767702 80 M>I No TOPMed
rs200791457 80 M>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs200791457 80 M>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1404997745 81 N>K No gnomAD
rs1020378970 82 P>L No Ensembl
COSM417205
rs112133139
83 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs762701752 84 K>R No ExAC
gnomAD
rs749991966 85 Y>* No ExAC
TOPMed
gnomAD
rs2142234198 85 Y>F No Ensembl
rs1408136896 86 D>E No TOPMed
gnomAD
rs950287139 86 D>N No TOPMed
rs1174174343 88 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
COSM276214 89 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1176095706 90 D>N No gnomAD
rs1183764259 91 M>I No TOPMed
gnomAD
rs761372918 91 M>T No ExAC
gnomAD
rs374349346 91 M>V No ESP
ExAC
gnomAD
TCGA novel 92 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs776774026 93 M>I No ExAC
gnomAD
rs2072766979 93 M>T No TOPMed
rs1462049379 93 M>V No gnomAD
rs768700760 95 T>I No ExAC
TOPMed
gnomAD
rs760469402 96 H>N No ExAC
gnomAD
rs1285526025 96 H>Q No TOPMed
gnomAD
rs370416064 97 L>P No ESP
ExAC
TOPMed
gnomAD
rs370416064 97 L>R No ESP
ExAC
TOPMed
gnomAD
rs1386357652 98 H>Q No TOPMed
gnomAD
rs1351526463 98 H>R No gnomAD
rs771715484 99 E>K No ExAC
TOPMed
gnomAD
rs746150609 100 P>A No ExAC
TOPMed
gnomAD
rs746150609 100 P>T No ExAC
TOPMed
gnomAD
rs779077824 101 A>S No ExAC
TOPMed
gnomAD
rs779077824 101 A>T No ExAC
TOPMed
gnomAD
rs2142234077 102 V>M No Ensembl
rs771066883 103 L>P No ExAC
gnomAD
rs2072766436 104 Y>C No TOPMed
COSM3513794 105 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs199862905 106 L>F No ESP
ExAC
TOPMed
gnomAD
rs199862905 106 L>V No ESP
ExAC
TOPMed
gnomAD
rs2072766268 107 K>Q No Ensembl
rs2072766239 107 K>R No TOPMed
TCGA novel 107 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1398468711 108 E>* No gnomAD
rs1366205253 108 E>D No TOPMed
gnomAD
rs1352844042 109 R>C No TOPMed
gnomAD
rs1352844042 109 R>G No TOPMed
gnomAD
rs777774759 109 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM4937221 109 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1352844042 109 R>S No TOPMed
gnomAD
rs756653851 110 Y>* No ExAC
TOPMed
gnomAD
rs201896271 111 A>P No ExAC
TOPMed
gnomAD
rs201896271 111 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1180450293 113 W>* No gnomAD
rs1243211402 114 M>I No gnomAD
rs755271404 114 M>L No ExAC
gnomAD
rs1414737290 115 I>M No gnomAD
rs750137859
COSM2925039
116 Y>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs1403812184 119 S>* No TOPMed
gnomAD
rs1403812184 119 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
COSM3969803 121 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1299593820 122 F>V No gnomAD
rs2072754520 123 C>F No gnomAD
rs1597424984 125 T>A No Ensembl
rs2072754424 125 T>I No TOPMed
rs1597424984 125 T>P No Ensembl
rs1258180782 126 V>I No Ensembl
rs767344958 127 N>K No ExAC
gnomAD
rs1597424973 127 N>T No Ensembl
rs1200712622 133 P>A No gnomAD
rs774140805
COSM4704627
133 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs773280083 134 V>A No ExAC
gnomAD
rs773280083 134 V>G No ExAC
gnomAD
rs763188898 134 V>L No ExAC
gnomAD
rs769953750
COSM313030
135 Y>* lung [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs748169031 136 N>I No ExAC
gnomAD
rs748169031
COSM1709851
136 N>S skin [Cosmic] No cosmic curated
ExAC
gnomAD
rs777251315 138 E>* No ExAC
TOPMed
gnomAD
rs150104856 138 E>G No ESP
ExAC
TOPMed
gnomAD
rs777251315 138 E>K No ExAC
TOPMed
gnomAD
rs1308487134 139 V>A No TOPMed
gnomAD
rs1308487134 139 V>G No TOPMed
gnomAD
rs199887563 139 V>L No 1000Genomes
ExAC
gnomAD
rs1597424921 140 V>A No Ensembl
rs1597424921 140 V>G No Ensembl
rs780596065 140 V>L No ExAC
gnomAD
TCGA novel 141 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs758786222 141 T>I No ExAC
gnomAD
rs2072752963 142 A>T No TOPMed
rs2072752890 143 Y>C No Ensembl
COSM1324189 143 Y>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs748989095 143 Y>H No ExAC
gnomAD
rs376085859 144 R>* No ESP
ExAC
TOPMed
gnomAD
COSM1162729
rs755708452
144 R>Q Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2072752784 147 K>M No TOPMed
rs1465968113 147 K>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs752164393 148 R>C No ExAC
TOPMed
gnomAD
rs1161345773 148 R>H No TOPMed
gnomAD
rs1161345773 148 R>L No TOPMed
gnomAD
rs2072752674 150 E>K No Ensembl
rs878972380 151 A>G No Ensembl
TCGA novel 151 A>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1567707415 151 A>T No gnomAD
rs1237827317 153 P>L No TOPMed
gnomAD
rs1033497456 153 P>S No TOPMed
gnomAD
TCGA novel 154 H>I Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs754941878 154 H>R No ExAC
gnomAD
rs2072752297 158 I>F No TOPMed
rs1480269654 158 I>T No TOPMed
rs373119093 160 D>V No ESP
ExAC
TOPMed
gnomAD
rs1203008346 161 N>S No gnomAD
rs2142232712 161 N>Y No Ensembl
rs762701247 162 A>P No ExAC
gnomAD
rs2142232701 163 Y>F No Ensembl
rs2072751927 163 Y>H No TOPMed
TCGA novel
rs200702064
165 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
TOPMed
gnomAD
NCI-TCGA
rs142071952 166 M>T No ESP
ExAC
TOPMed
gnomAD
rs1337781745 167 L>P No gnomAD
rs201645314 170 R>C No TOPMed
gnomAD
rs765014025 170 R>H No ExAC
TOPMed
gnomAD
rs765014025 170 R>L No ExAC
TOPMed
gnomAD
rs765014025 170 R>P No ExAC
TOPMed
gnomAD
rs201645314 170 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs754041471 172 N>K No ExAC
TOPMed
gnomAD
rs1296381472 174 S>T No gnomAD
rs764317713 175 I>T No ExAC
gnomAD
rs1426583260 175 I>V No gnomAD
rs1162828183 176 L>F No gnomAD
rs983643580 176 L>S No gnomAD
rs760832668 177 I>T No ExAC
TOPMed
gnomAD
rs563253512 178 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2072741378 179 G>E No TOPMed
gnomAD
rs2072741327 180 E>Q No Ensembl
rs2072741224 183 A>T No Ensembl
rs267604707 184 G>R No Ensembl
rs147601968 184 G>V No ESP
ExAC
TOPMed
gnomAD
rs1383486824 185 K>N No TOPMed
gnomAD
COSM4063834 185 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072740689 187 V>A No TOPMed
rs1044500998 189 T>K No TOPMed
gnomAD
COSM5623151
rs1044500998
189 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1397769225 190 K>R No gnomAD
rs145268566 191 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145268566 191 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752920475 191 R>H No ExAC
TOPMed
gnomAD
rs752920475 191 R>P No ExAC
TOPMed
gnomAD
rs2072740331 193 I>M No Ensembl
rs767752283 193 I>T No ExAC
gnomAD
COSM559473 195 Y>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 196 F>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1951297314 196 F>L No TOPMed
rs1170327514 197 A>G No gnomAD
rs755051377 199 I>T No ExAC
TOPMed
gnomAD
rs2072740147
COSM1324190
200 A>S ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs942242241 200 A>V No gnomAD
rs2072740033 202 T>I No Ensembl
TCGA novel 202 T>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1405896872 202 T>P No gnomAD
rs372084185 203 G>R No ESP
TOPMed
gnomAD
rs773573474 206 K>E No ExAC
TOPMed
gnomAD
rs773573474 206 K>Q No ExAC
TOPMed
gnomAD
rs1278487851 206 K>R No gnomAD
rs765548950 208 E>D No ExAC
TOPMed
gnomAD
rs201161322 209 E>D No ExAC
gnomAD
COSM3889237
rs866666239
209 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs1310272773 210 P>A No TOPMed
gnomAD
rs1310272773 210 P>S No TOPMed
gnomAD
rs1310272773 210 P>T No TOPMed
gnomAD
rs1171340342 211 A>S No TOPMed
gnomAD
rs1171340342 211 A>T No TOPMed
gnomAD
rs181135245 211 A>V No 1000Genomes
ExAC
gnomAD
rs771523160 212 S>P No ExAC
gnomAD
rs574670297 213 G>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs759043866 217 G>A No ExAC
TOPMed
gnomAD
rs1360664518 217 G>R No gnomAD
rs759043866 217 G>V No ExAC
TOPMed
gnomAD
rs773942589 218 T>I No ExAC
gnomAD
rs2072727592 219 L>F No TOPMed
gnomAD
COSM4414440 220 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1424767307 221 D>G No gnomAD
rs368055208 221 D>N No ESP
ExAC
gnomAD
rs1424767307 221 D>V No gnomAD
rs368055208 221 D>Y No ESP
ExAC
gnomAD
rs1413524596 222 Q>K No TOPMed
gnomAD
rs769775406 224 I>M No ExAC
TOPMed
gnomAD
rs548098000 227 N>K No 1000Genomes
ExAC
gnomAD
rs2142230552 227 N>T No Ensembl
rs199624888 228 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
NCI-TCGA
rs747163042 230 L>P No ExAC
TOPMed
gnomAD
COSM3513792 231 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs549957926 232 A>G No 1000Genomes
gnomAD
rs549957926 232 A>V No 1000Genomes
gnomAD
rs780206832 233 F>L No ExAC
TOPMed
gnomAD
rs374951585 234 G>C No ESP
ExAC
TOPMed
gnomAD
rs374951585 234 G>R No ESP
ExAC
TOPMed
gnomAD
rs374951585 234 G>S No ESP
ExAC
TOPMed
gnomAD
rs1385707345 236 A>D No TOPMed
rs1385707345 236 A>G No TOPMed
rs193175434 237 K>Q No 1000Genomes
ExAC
gnomAD
rs1397605994 237 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs2072726676 239 V>A No TOPMed
rs377612250 239 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1457087191 240 R>K No TOPMed
gnomAD
rs1457087191 240 R>T No TOPMed
gnomAD
rs764324804 241 N>S No ExAC
TOPMed
gnomAD
rs2072726452 242 D>E No Ensembl
rs1467462249 242 D>G No gnomAD
COSM472274
rs1467462249
242 D>V kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs759254368 243 N>I No ExAC
gnomAD
COSM4396101 244 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072726259 245 S>P No TOPMed
rs1048241901
COSM227893
246 R>C NS [Cosmic] No cosmic curated
TOPMed
gnomAD
rs372114550 246 R>H No ESP
ExAC
TOPMed
gnomAD
rs372114550 246 R>L No ESP
ExAC
TOPMed
gnomAD
rs2072726016 247 F>C No Ensembl
rs1567706576 247 F>I No Ensembl
COSM4063832 249 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs761867410 249 K>I No ExAC
gnomAD
rs776412551
COSM381435
250 F>L lung [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs912799280 250 F>S No TOPMed
gnomAD
rs2072723104 251 I>T No TOPMed
rs2072723152 251 I>V No Ensembl
rs2072723029 252 R>K No Ensembl
COSM472273 252 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763992009 254 H>Q No ExAC
gnomAD
rs760385220 255 F>L No ExAC
gnomAD
rs111672577 256 G>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2072722790 257 A>T No gnomAD
rs1197966840 258 T>I No TOPMed
rs1440532830 259 G>S No TOPMed
gnomAD
TCGA novel 260 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1379502502 261 L>P No TOPMed
gnomAD
TCGA novel 262 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs141999522 262 A>V No ESP
ExAC
TOPMed
gnomAD
TCGA novel
rs1597423618
263 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1597423618 263 S>Y No TOPMed
rs1425270379 264 A>E No gnomAD
rs1425270379 264 A>V No gnomAD
rs774435576 265 D>H No ExAC
gnomAD
rs140079499 266 I>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140079499 266 I>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1349768911 267 E>K No gnomAD
rs1245564467 269 Y>* No TOPMed
gnomAD
COSM4063831 269 Y>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1193782859 270 L>P No gnomAD
rs752519288 272 E>G No ExAC
TOPMed
gnomAD
rs1283448111 272 E>K No TOPMed
gnomAD
rs1283448111 272 E>Q No TOPMed
gnomAD
rs1254325812 273 K>N No TOPMed
gnomAD
rs143661638 274 S>F No 1000Genomes
ExAC
gnomAD
rs554671029 274 S>T No 1000Genomes
ExAC
gnomAD
rs143661638 274 S>Y No 1000Genomes
ExAC
gnomAD
COSM3818788
rs774524623
275 R>* Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 275 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs771062693 275 R>Q No ExAC
TOPMed
gnomAD
COSM975269 279 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM975268 279 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1178468943 281 K>T No TOPMed
gnomAD
rs1400692065 283 E>V No gnomAD
COSM5906576 284 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1296643224 286 Y>C No gnomAD
rs1391235754 287 H>N No gnomAD
rs748652309 288 I>M No ExAC
TOPMed
gnomAD
COSM435995 288 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1255556125 288 I>V No TOPMed
gnomAD
rs2072720333 289 F>C No Ensembl
rs781710090 289 F>V No ExAC
TOPMed
gnomAD
rs745558442 290 Y>* No ExAC
gnomAD
rs769122192 290 Y>H No ExAC
gnomAD
COSM3513790 291 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM417206 291 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072720241 292 I>T No Ensembl
TCGA novel 292 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel
rs2142229791
293 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
COSM3672348 294 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs762020284 295 N>T No TOPMed
gnomAD
rs146122939 296 K>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1451792201 298 P>L No gnomAD
rs1265540400 299 E>Q No TOPMed
gnomAD
rs2072720037 300 L>R No Ensembl
rs753301063 301 I>T No ExAC
TOPMed
gnomAD
rs1029456820 303 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
COSM705135 304 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs35512085 307 T>P No Ensembl
rs1232357686 309 N>T No TOPMed
gnomAD
rs781091968
COSM3513788
310 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200664872 310 P>S No Ensembl
COSM472272 311 Y>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs143001233 311 Y>H No ESP
ExAC
TOPMed
gnomAD
rs143001233 311 Y>N No ESP
ExAC
TOPMed
gnomAD
rs371118294 312 D>V No ESP
rs764461718
COSM1520166
314 A>T lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1377965478 315 F>S No TOPMed
rs758574408 319 G>R No ExAC
TOPMed
gnomAD
rs758574408 319 G>W No ExAC
TOPMed
gnomAD
rs1303417762 320 E>A No TOPMed
rs2142229559 322 T>S No Ensembl
TCGA novel 323 V>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs138320557 323 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199558949 324 P>L No gnomAD
rs2072717687 325 S>N No Ensembl
rs1439408309 326 I>T No gnomAD
rs777336777 328 D>A No ExAC
gnomAD
TCGA novel 329 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs567739039 329 Q>E No 1000Genomes
ExAC
gnomAD
rs1197417662 329 Q>H No Ensembl
rs35984286 329 Q>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775748832 330 E>K No ExAC
TOPMed
gnomAD
rs772459794 331 E>* No ExAC
TOPMed
gnomAD
rs772459794 331 E>K No ExAC
TOPMed
gnomAD
rs1310205885 331 E>V No gnomAD
rs2072717386 333 M>L No TOPMed
rs1054539402 334 A>D No TOPMed
gnomAD
rs1285940566 335 T>K No TOPMed
gnomAD
rs1370898440 335 T>P No gnomAD
rs747754926 337 S>T No ExAC
gnomAD
rs776137813 338 A>T No ExAC
gnomAD
rs2072696547 339 V>A No Ensembl
rs1478874873 340 D>N No gnomAD
rs1333261499 341 I>T No TOPMed
gnomAD
rs1201078387 343 G>V No TOPMed
rs2072696305 347 D>Y No Ensembl
rs1048644412 348 E>* No Ensembl
TCGA novel 348 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3513785 348 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1485032147 349 K>M No TOPMed
gnomAD
rs200338533 349 K>N No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 350 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs780039843 351 A>D No ExAC
gnomAD
rs866328008 351 A>T No Ensembl
rs2072696048 352 I>T No Ensembl
rs1271269356 353 Y>H No gnomAD
rs2072695972 354 K>T No Ensembl
rs1318061332 356 T>A No TOPMed
gnomAD
rs1318061332 356 T>S No TOPMed
gnomAD
rs1567705282 357 G>E No Ensembl
rs185822918 359 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754065011 360 M>R No ExAC
TOPMed
gnomAD
rs754065011 360 M>T No ExAC
TOPMed
gnomAD
rs1293698301 361 H>P No gnomAD
rs1437639130 362 Y>H No TOPMed
gnomAD
rs756258523
COSM3513784
365 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
NCI-TCGA Cosmic
rs2072695590 365 M>T No Ensembl
rs1415400080 366 K>N No TOPMed
gnomAD
rs755765953 367 F>L No Ensembl
rs2072695451 368 K>Q No Ensembl
rs2072695368 370 K>E No TOPMed
rs2072695331 372 R>K No TOPMed
gnomAD
TCGA novel 372 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072695331 372 R>T No TOPMed
gnomAD
COSM3513782 373 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs148182083 373 E>Q No ESP
ExAC
TOPMed
gnomAD
rs759890777 375 Q>H No ExAC
TOPMed
gnomAD
rs1422253390 375 Q>R No TOPMed
gnomAD
rs1426751240 377 E>V No gnomAD
rs111251433 378 P>S No gnomAD
rs766676958 379 D>E No ExAC
gnomAD
rs751983408 379 D>H No ExAC
TOPMed
gnomAD
COSM4855537
rs751983408
379 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
TOPMed
gnomAD
rs1250884006 380 G>A No gnomAD
rs761499700 381 T>M No ExAC
TOPMed
gnomAD
COSM975267 382 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs759569179 383 V>A No ExAC
TOPMed
gnomAD
rs1312585645
COSM1609825
383 V>I liver [Cosmic] No cosmic curated
TOPMed
gnomAD
TCGA novel 384 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1242771295 384 A>T No gnomAD
rs2072687106 385 D>A No Ensembl
rs143027827 386 K>N No ESP
ExAC
TOPMed
gnomAD
rs2072687019 388 A>P No Ensembl
rs1280061096 392 S>N No TOPMed
gnomAD
rs1306996841 392 S>R No TOPMed
gnomAD
TCGA novel 393 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs374282643 397 D>N No ESP
ExAC
TOPMed
gnomAD
COSM5010122 398 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1313519797 398 L>P No TOPMed
gnomAD
rs1037249095 401 S>C No TOPMed
gnomAD
rs1037249095 401 S>F No TOPMed
gnomAD
rs2072686608 401 S>P No TOPMed
COSM975266 401 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM975265 403 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072686484 404 Y>C No Ensembl
COSM5851785 405 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM6080152 406 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs897886586 408 K>N No TOPMed
gnomAD
rs142060534 409 V>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs142060534 409 V>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs2072686216 410 G>D No gnomAD
COSM321867
rs371420534
410 G>R lung [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs371420534 410 G>S No ESP
ExAC
TOPMed
gnomAD
COSM1709848 412 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs370061303 413 F>L No ESP
ExAC
TOPMed
gnomAD
rs2072686185 413 F>L No TOPMed
COSM180576
rs373683531
414 V>I Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373683531 414 V>L No ESP
ExAC
TOPMed
gnomAD
rs111500941 415 T>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs767121220 417 G>D No ExAC
gnomAD
rs561574077 417 G>S No 1000Genomes
COSM3513780 418 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs112872053 419 T>S No Ensembl
rs2072685903 420 V>M No gnomAD
rs1427954349 422 Q>* No gnomAD
rs1233202115 424 Y>* No gnomAD
TCGA novel
rs2058893822
424 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs540099140 425 N>I No TOPMed
gnomAD
rs3744561 425 N>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765935336 426 A>T No ExAC
TOPMed
gnomAD
rs2072684430 426 A>V No TOPMed
rs564783119 427 V>M No 1000Genomes
rs1326081472 428 G>D No gnomAD
rs1326081472 428 G>V No gnomAD
rs2072684286 429 A>S No TOPMed
rs2072684243 430 L>Q No Ensembl
rs2072684136 431 A>D No TOPMed
rs2072684040 432 K>N No Ensembl
rs2072684086 432 K>R No gnomAD
rs1388361513 433 A>V No gnomAD
rs546488856 434 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
COSM2925001
rs201920700
435 Y>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
gnomAD
NCI-TCGA Cosmic
rs761502978 435 Y>C No ExAC
rs765143035 435 Y>H No ExAC
TOPMed
gnomAD
rs2142226175 436 E>D No Ensembl
rs199943889
COSM3513779
436 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775569708 438 M>I No ExAC
gnomAD
rs772119364 439 F>L No ExAC
TOPMed
gnomAD
COSM4063829 440 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs542007728 441 W>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs970629889 442 M>I No gnomAD
rs1435344965 443 V>A No gnomAD
rs1435344965 443 V>G No gnomAD
rs771409272 445 R>C No ExAC
TOPMed
gnomAD
rs771409272 445 R>G No ExAC
TOPMed
gnomAD
rs749619476 445 R>H No ExAC
TOPMed
gnomAD
rs771409272 445 R>S No ExAC
TOPMed
gnomAD
rs2072683325 447 N>D No TOPMed
rs778158885 448 Q>R No ExAC
TOPMed
gnomAD
rs754696431 449 Q>K No ExAC
gnomAD
rs1338813685 453 K>E No TOPMed
gnomAD
rs779747456 454 Q>* No ExAC
TOPMed
gnomAD
rs779747456 454 Q>K No ExAC
TOPMed
gnomAD
rs1597421949 455 P>T No Ensembl
rs2072683034 456 R>K No TOPMed
rs2072682986 457 Q>R No Ensembl
COSM6145631 458 Y>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072682891 459 F>I No Ensembl
TCGA novel 459 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1346665790 459 F>S No gnomAD
TCGA novel 460 I>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM75522
rs267604706
461 G>R ovary [Cosmic] No cosmic curated
gnomAD
rs2072682669 461 G>V No Ensembl
rs868373807 462 V>I No Ensembl
rs139626801 464 D>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs993252370 465 I>V No gnomAD
rs199945629 466 A>V No TOPMed
gnomAD
rs1156743150 470 I>N No TOPMed
TCGA novel 473 F>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs779387919
TCGA novel
473 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No TOPMed
gnomAD
NCI-TCGA
rs760459632 474 N>T No ExAC
gnomAD
rs1257148674 475 S>I No gnomAD
rs1257148674 475 S>N No gnomAD
TCGA novel 476 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 477 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1208990625 477 E>Q No gnomAD
rs2072676691 479 L>Q No Ensembl
rs1284664592 480 C>F No TOPMed
gnomAD
TCGA novel 481 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs939389767 481 I>V No TOPMed
gnomAD
rs1054623838 483 F>C No TOPMed
gnomAD
rs1348466283
COSM1380777
483 F>I large_intestine [Cosmic] No cosmic curated
gnomAD
COSM75521 483 F>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072676392 484 T>N No TOPMed
rs1421317078 484 T>P No TOPMed
rs759763132 485 N>S No ExAC
gnomAD
rs759763132 485 N>T No ExAC
gnomAD
rs771016908 486 E>K No ExAC
TOPMed
gnomAD
rs2142225369 487 K>N No Ensembl
rs763406881 487 K>Q No ExAC
TOPMed
gnomAD
rs1360713620 487 K>R No gnomAD
rs904930005 488 L>P No TOPMed
gnomAD
rs2072676113 489 Q>* No TOPMed
gnomAD
COSM3795260 492 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM2924991 492 F>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1395341095
COSM3513773
493 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs777072898 494 H>R No ExAC
gnomAD
rs972335164 496 M>I No gnomAD
rs201075146 496 M>L No ESP
ExAC
TOPMed
gnomAD
rs1489404269 496 M>T No TOPMed
gnomAD
rs778336247 497 F>Y No ExAC
gnomAD
rs143641715 498 V>M No ESP
ExAC
TOPMed
gnomAD
TCGA novel 501 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM1709847 502 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs752519020 504 Y>* No ExAC
TOPMed
gnomAD
rs370952158 505 K>R No ESP
ExAC
TOPMed
gnomAD
rs200100694 507 E>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766431705 508 G>D No ExAC
gnomAD
rs763072167 509 I>V No ExAC
TOPMed
gnomAD
rs773365313 510 E>* No ExAC
gnomAD
rs773365313 510 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1178068419 511 W>R No TOPMed
rs762372389 512 E>A No ExAC
gnomAD
rs765846094 512 E>K No ExAC
gnomAD
rs146102845 514 I>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769124122 516 F>L No ExAC
TOPMed
gnomAD
COSM1290628
rs754358110
517 G>R haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs754358110 517 G>W No ExAC
TOPMed
gnomAD
rs558519475 518 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
gnomAD
rs2072674884 519 D>G No TOPMed
rs1567704392 519 D>H No Ensembl
COSM3513771 519 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1597421546 522 A>S No TOPMed
rs770407305 523 C>G No ExAC
TOPMed
gnomAD
rs770407305 523 C>R No ExAC
TOPMed
gnomAD
rs374309931
COSM975261
525 E>K large_intestine endometrium [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs777223410 527 I>V No ExAC
gnomAD
rs756067819 528 E>K No ExAC
TOPMed
gnomAD
COSM3889235 529 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4063826 530 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072658004 530 P>S No Ensembl
rs1346782012 531 M>T No TOPMed
gnomAD
rs2072657976 531 M>V No gnomAD
rs35349985 534 F>L No ESP
ExAC
TOPMed
gnomAD
COSM6080153 535 S>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs757408460 536 I>V No ExAC
gnomAD
rs2072657805 540 E>G No TOPMed
gnomAD
rs2072657835 540 E>K No TOPMed
rs2072657835 540 E>Q No TOPMed
rs753125868 541 C>* No ExAC
gnomAD
rs966147606 541 C>F No TOPMed
rs549110332 541 C>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs549110332 541 C>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs966147606 541 C>Y No TOPMed
rs2072657586 542 M>I No Ensembl
rs767749646 542 M>T No ExAC
TOPMed
gnomAD
rs2072657520 543 F>L No gnomAD
rs772842261 544 P>S No ExAC
TOPMed
gnomAD
rs1357441814 545 K>R No TOPMed
gnomAD
rs1357441814 545 K>T No TOPMed
gnomAD
COSM975260 548 D>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs749617157 548 D>E No TOPMed
rs1414374751 548 D>G No gnomAD
rs761322240 549 T>P No ExAC
gnomAD
rs775934597 550 S>F No ExAC
gnomAD
TCGA novel 551 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1031615827 553 N>K No TOPMed
rs2072657167 554 K>R No TOPMed
gnomAD
TCGA novel 555 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1456311398 557 E>G No TOPMed
gnomAD
rs2072657120 557 E>Q No Ensembl
rs768673169 559 H>R No ExAC
TOPMed
gnomAD
rs2072657047 559 H>Y No TOPMed
COSM6145632 560 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1410903093 561 G>E No TOPMed
gnomAD
TCGA novel 561 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4404708
rs1165006026
563 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1597420798 563 S>P No Ensembl
rs2072656747 564 N>S No Ensembl
rs376013289 565 N>D No ESP
ExAC
gnomAD
rs1748360281 565 N>K No Ensembl
rs746159729 566 F>L No ExAC
TOPMed
gnomAD
rs1597420792 566 F>S No Ensembl
rs2072656592 567 Q>* No gnomAD
rs779265310 568 K>E No ExAC
gnomAD
rs1207276652 569 P>A No gnomAD
COSM975259 569 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1486390936 570 K>Q No gnomAD
rs541313954 572 A>S No 1000Genomes
ExAC
gnomAD
COSM1216220
rs541313954
572 A>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1294006977 573 K>N No gnomAD
rs964624974 574 G>D No TOPMed
gnomAD
rs1232704804 576 P>A No gnomAD
rs753112873 577 E>D No ExAC
gnomAD
rs759876947 579 H>Y No ExAC
TOPMed
gnomAD
rs1021403958 580 F>L No Ensembl
rs764871122 580 F>S No ExAC
TOPMed
gnomAD
rs764871122 580 F>Y No ExAC
TOPMed
gnomAD
rs2072655959 581 S>L No TOPMed
gnomAD
rs763492896 583 V>L No ExAC
TOPMed
rs763492896 583 V>M No ExAC
TOPMed
rs1597420717 585 Y>* No gnomAD
COSM705138 585 Y>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs775290532 586 A>D No ExAC
TOPMed
gnomAD
rs775290532 586 A>V No ExAC
TOPMed
gnomAD
rs745672744 587 G>S No ExAC
TOPMed
gnomAD
rs2072655441 589 V>A No gnomAD
rs368576472 589 V>M No ESP
ExAC
TOPMed
gnomAD
rs908775303 591 Y>C No TOPMed
gnomAD
rs756139177 593 I>T No ExAC
gnomAD
rs201166283 593 I>V No 1000Genomes
rs1310258324 594 A>G No TOPMed
VAR_030198
rs12949680
594 A>T No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1310258324 594 A>V No TOPMed
rs571679462 595 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs138979215 595 G>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs571679462 595 G>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs948272273 596 W>S No Ensembl
rs1341691715 597 L>P No TOPMed
gnomAD
rs2072654851 598 D>E No TOPMed
rs2072654817 599 K>T No Ensembl
rs753402914 600 N>H No ExAC
gnomAD
TCGA novel 600 N>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1371659782 601 K>M No gnomAD
TCGA novel 601 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs763727367 602 D>E No ExAC
TOPMed
gnomAD
rs1245778373 602 D>H No TOPMed
gnomAD
rs2072654637 602 D>V No TOPMed
rs1459477575 603 P>A No TOPMed
gnomAD
rs757257105 603 P>L No TOPMed
gnomAD
rs1459477575 603 P>S No TOPMed
gnomAD
rs987528605 606 E>D No TOPMed
gnomAD
COSM4063825 608 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs147137444 609 V>M No ESP
ExAC
TOPMed
gnomAD
rs143452653 611 L>R No ESP
ExAC
gnomAD
rs557704267 612 Y>H No ExAC
TOPMed
gnomAD
rs1289237793 613 Q>H No gnomAD
rs1031361716 613 Q>R No TOPMed
gnomAD
rs749587912 615 S>T No ExAC
gnomAD
COSM975258 615 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1858268064 616 A>E No TOPMed
rs773288385 616 A>S No ExAC
rs773288385 616 A>T No ExAC
rs1272684999 617 M>V No gnomAD
rs770000733 619 T>A No ExAC
TOPMed
gnomAD
rs1348321846 619 T>I No gnomAD
rs748181006 620 L>P No ExAC
TOPMed
gnomAD
rs1438595900 621 A>T No gnomAD
rs1337409345 622 F>L No gnomAD
rs2072653692 622 F>S No gnomAD
rs371513893 623 L>I No ESP
TOPMed
gnomAD
rs1328982946 625 S>P No TOPMed
gnomAD
rs781207137
COSM335049
627 A>E lung [Cosmic] No cosmic curated
ExAC
gnomAD
TCGA novel 627 A>H Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1597420573 627 A>S No Ensembl
rs1391212979 629 T>I No TOPMed
gnomAD
rs1393891064 631 E>G No gnomAD
rs1393891064 631 E>V No gnomAD
rs2072640725 633 E>D No Ensembl
rs755495790 633 E>Q No ExAC
TOPMed
gnomAD
rs202100486 634 G>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs772991962 636 G>S No ExAC
TOPMed
gnomAD
rs1190094171 638 K>T No gnomAD
rs769938719 640 G>S No ExAC
gnomAD
TCGA novel 640 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072640475 641 G>S No TOPMed
gnomAD
rs201777804 642 K>* No ESP
ExAC
TOPMed
gnomAD
rs776742656 642 K>R No ExAC
TOPMed
gnomAD
rs2072640400 643 K>E No TOPMed
TCGA novel 643 K>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1343851208 643 K>R No TOPMed
rs768693131 644 K>E No ExAC
gnomAD
COSM705140 644 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel
rs2072640252
645 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
COSM3513765 645 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072640252 645 G>R No gnomAD
rs370411097 647 S>C No ESP
ExAC
TOPMed
gnomAD
rs370411097 647 S>F No ESP
ExAC
TOPMed
gnomAD
rs772577784 648 F>C No ExAC
gnomAD
rs373133379 648 F>L No ESP
ExAC
TOPMed
gnomAD
TCGA novel 653 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1027055491 653 A>V No TOPMed
gnomAD
rs1282052879 656 R>G No gnomAD
rs571468610 656 R>S No 1000Genomes
ExAC
gnomAD
rs779565504
COSM975257
657 E>K Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs2072633856 659 L>F No Ensembl
rs200538149 662 L>P No TOPMed
gnomAD
rs2072633818 662 L>V No gnomAD
rs1447424221 663 M>V No gnomAD
rs2072633689 665 N>S No TOPMed
TCGA novel 665 N>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs539862579 666 L>* No 1000Genomes
rs569210501
COSM3513764
667 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1244500695 668 S>G No gnomAD
rs2072633505 668 S>N No Ensembl
rs753572719 669 T>I No ExAC
TOPMed
gnomAD
rs753572719 669 T>S No ExAC
TOPMed
gnomAD
rs1055443561 670 H>R No TOPMed
rs2072633392 670 H>Y No TOPMed
rs2072633332 671 P>S No TOPMed
rs2072633332 671 P>T No TOPMed
rs764308948 672 H>D No ExAC
TOPMed
gnomAD
rs764308948 672 H>N No ExAC
TOPMed
gnomAD
rs1228204503 672 H>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs764308948 672 H>Y No ExAC
TOPMed
gnomAD
rs760850020 673 F>L No ExAC
gnomAD
rs140213075 674 V>L No ESP
ExAC
TOPMed
gnomAD
COSM283027
rs760025701
675 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767615835 675 R>W No ExAC
TOPMed
gnomAD
COSM1286430 676 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774905501 676 C>R No ExAC
gnomAD
rs1331627977 678 I>N No TOPMed
rs2072632948 679 P>L No Ensembl
rs749671555 680 N>S No ExAC
TOPMed
gnomAD
rs1427626557 681 E>* No gnomAD
TCGA novel 682 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1396639823 682 T>P No TOPMed
gnomAD
rs1173981598 684 T>A No gnomAD
rs773671830 684 T>I No ExAC
TOPMed
gnomAD
COSM3513763 685 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs775197647 686 G>D No ExAC
TOPMed
gnomAD
rs1567702646 687 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs2072631633 687 A>V No Ensembl
COSM4990925 688 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs903237139 688 M>V No TOPMed
gnomAD
TCGA novel 689 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1257710906 689 E>K No gnomAD
rs771566342 690 H>L No ExAC
TOPMed
gnomAD
rs771566342 690 H>R No ExAC
TOPMed
gnomAD
rs745388693 691 E>K No ExAC
gnomAD
rs2072631455 692 L>F No Ensembl
rs2072631429 694 L>R No Ensembl
COSM3513762 696 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1300723201 696 Q>H No TOPMed
gnomAD
rs1218536994 696 Q>R No gnomAD
rs2072631286 698 R>K No TOPMed
rs778250398 699 C>G No ExAC
TOPMed
gnomAD
rs778250398 699 C>S No ExAC
TOPMed
gnomAD
rs1597419718 699 C>Y No Ensembl
rs2072631181 700 N>D No Ensembl
rs148235877 700 N>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372354468 701 G>D No ESP
ExAC
TOPMed
gnomAD
rs143134132
COSM180574
701 G>S large_intestine [Cosmic] No cosmic curated
ESP
TOPMed
gnomAD
rs372354468 701 G>V No ESP
ExAC
TOPMed
gnomAD
rs1228619815 702 V>G No TOPMed
rs1399751348 703 L>P No gnomAD
rs1399751348 703 L>R No gnomAD
COSM975256
rs777588594
707 R>C Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201207535 707 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201207535
COSM3402584
707 R>L central_nervous_system [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs781477349 710 R>G No ExAC
gnomAD
rs1314778324 711 K>R No TOPMed
rs1014306463 712 G>A No Ensembl
rs2072630668 713 F>V No Ensembl
TCGA novel 715 S>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072630640 715 S>R No Ensembl
rs755111846 715 S>R No ExAC
TOPMed
gnomAD
TCGA novel 716 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs751681201 717 I>N No ExAC
gnomAD
rs763593260
COSM139049
718 L>F skin [Cosmic] No cosmic curated
ExAC
TOPMed
rs763593260 718 L>V No ExAC
TOPMed
rs149111262 719 Y>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM975255 719 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs750960798 719 Y>H No ExAC
TOPMed
gnomAD
TCGA novel 719 Y>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs532823907 720 A>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 721 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1465750992 722 F>Y No gnomAD
rs1267988018 723 K>R No TOPMed
gnomAD
rs1267988018 723 K>T No TOPMed
gnomAD
rs1206965809 724 Q>* No gnomAD
rs1206965809 724 Q>E No gnomAD
TCGA novel 724 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs180690922 724 Q>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs180690922 724 Q>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs759064733 725 R>K No ExAC
gnomAD
rs2142220716 725 R>S No Ensembl
rs373674292 726 Y>* No ESP
ExAC
TOPMed
gnomAD
rs934095950 726 Y>H No TOPMed
gnomAD
rs1404852471 727 K>R No TOPMed
rs1455991486 728 V>F No gnomAD
rs370294449 731 A>E No ESP
ExAC
TOPMed
gnomAD
COSM975254
rs370294449
731 A>V Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 732 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs768330400 733 A>D No ExAC
gnomAD
rs768330400 733 A>G No ExAC
gnomAD
rs776529132 733 A>P No ExAC
TOPMed
gnomAD
rs747312194 734 I>N No ExAC
TOPMed
gnomAD
rs747312194 734 I>T No ExAC
TOPMed
gnomAD
rs267604705 735 P>L No ExAC
TOPMed
gnomAD
rs267604705 735 P>R No ExAC
TOPMed
gnomAD
rs77530914
RCV000947768
735 P>T No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2142220658 736 E>Q No Ensembl
rs2072626126 737 G>S No TOPMed
gnomAD
rs1236140004 738 Q>L No gnomAD
rs1345651258 740 I>L No gnomAD
rs551102643 740 I>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs113676954 741 D>G No Ensembl
TCGA novel 741 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs372722710 743 K>* No ESP
ExAC
gnomAD
rs756425015 745 A>P No ExAC
TOPMed
gnomAD
rs2072625755 746 S>Y No TOPMed
rs1214807791 747 E>K No TOPMed
rs752989391 748 K>R No ExAC
gnomAD
rs766048414 749 L>P No ExAC
gnomAD
rs888337418 751 G>E No Ensembl
rs888337418 751 G>V No Ensembl
rs1025261990 752 S>A No TOPMed
gnomAD
TCGA novel 752 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs772756428 753 I>N No ExAC
TOPMed
gnomAD
rs772756428 753 I>T No ExAC
TOPMed
gnomAD
rs533043596 753 I>V No 1000Genomes
ExAC
gnomAD
COSM3513760 754 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs764621209 756 D>G No ExAC
gnomAD
rs2142220568 757 H>N No Ensembl
rs1161016006 757 H>Q No TOPMed
gnomAD
rs1472391532 758 T>I No TOPMed
gnomAD
rs1472391532 758 T>N No TOPMed
gnomAD
rs761874607 760 Y>* No ExAC
TOPMed
gnomAD
rs1442781815 761 K>E No gnomAD
rs1277876476 761 K>I No gnomAD
rs2072625086 763 G>C No TOPMed
rs2072625086 763 G>S No TOPMed
rs1047340364 766 K>E No Ensembl
TCGA novel 767 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072623785 767 V>I No TOPMed
COSM3988758
rs2072623753
768 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
TCGA novel 768 F>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3513759
rs1368046636
771 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs2072623637 775 G>E No TOPMed
COSM3513758 775 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs761241412 777 L>P No ExAC
TOPMed
gnomAD
rs761241412 777 L>R No ExAC
TOPMed
gnomAD
COSM3818787 777 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776140827
COSM3889233
779 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760640626 781 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs749993136 781 R>Q No ExAC
TOPMed
gnomAD
rs1158318566 784 K>Q No TOPMed
gnomAD
rs759906665 785 L>P No ExAC
gnomAD
rs774426815 786 A>V No ExAC
gnomAD
rs1597419338 787 Q>E No Ensembl
rs1597419329 788 L>I No Ensembl
rs113381811 788 L>P No Ensembl
rs1248638836 789 I>N No gnomAD
rs1248638836 789 I>T No gnomAD
rs2072622980 790 T>A No gnomAD
rs143572602 790 T>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM435993
rs143572602
790 T>M lung breast [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143572602 790 T>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146550695
COSM1479213
791 R>C Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM975253
rs144778193
791 R>H Variant assessed as Somatic; MODERATE impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs144778193 791 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs146550695 791 R>S No ESP
ExAC
TOPMed
gnomAD
rs781602489 792 T>A No ExAC
gnomAD
rs751862667 793 Q>K No ExAC
gnomAD
rs2072622628 793 Q>L No TOPMed
rs1291084222 795 I>M No TOPMed
gnomAD
rs778436363 795 I>T No ExAC
TOPMed
gnomAD
rs1940346802 795 I>V No gnomAD
rs373216084 796 C>* No ESP
ExAC
TOPMed
gnomAD
rs1384811893 796 C>R No TOPMed
gnomAD
rs1042397069 796 C>Y No TOPMed
gnomAD
rs1228338301 798 G>R No gnomAD
rs1363588908 799 F>L No gnomAD
rs760738426 801 M>I No ExAC
rs763639457 801 M>R No ExAC
gnomAD
rs763639457 801 M>T No ExAC
gnomAD
COSM137090
rs752679264
802 R>K skin [Cosmic] No cosmic curated
ExAC
gnomAD
rs1431439547 804 E>D No gnomAD
rs767482558 804 E>K No ExAC
gnomAD
rs759421684 805 F>L No ExAC
gnomAD
rs1685072306 806 R>T No TOPMed
TCGA novel 807 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs774152329 807 K>R No ExAC
gnomAD
rs771077344 808 M>I No ExAC
TOPMed
gnomAD
rs1396750055 809 M>K No gnomAD
TCGA novel 809 M>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1396750055 809 M>T No gnomAD
rs1191333780 811 R>T No gnomAD
rs915263067
COSM1722295
812 R>K NS [Cosmic] No cosmic curated
TOPMed
gnomAD
rs2072619910 813 E>* No gnomAD
rs1597419158
COSM3421275
813 E>D large_intestine Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
Ensembl
NCI-TCGA Cosmic
rs1380445354 813 E>V Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2072619810 814 S>P No TOPMed
rs2142219941 814 S>Y No Ensembl
rs368973679 815 I>N No ESP
ExAC
gnomAD
rs368973679 815 I>S No ESP
ExAC
gnomAD
rs2072619782 815 I>V No Ensembl
rs936387815 816 F>Y No Ensembl
TCGA novel 817 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs767570586 818 I>L No ExAC
gnomAD
rs767570586 818 I>V No ExAC
gnomAD
rs751355983 820 Y>* No ExAC
TOPMed
gnomAD
rs1264338303 820 Y>N No TOPMed
gnomAD
rs112990048 821 N>D No Ensembl
COSM398480
rs1211411768
821 N>S lung [Cosmic] No cosmic curated
gnomAD
COSM4063823 821 N>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1312084421 822 I>N No TOPMed
gnomAD
rs763148844
COSM78129
823 R>C ovary Variant assessed as Somatic; MODERATE impact. large_intestine skin [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1380775
rs557134943
823 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
NCI-TCGA
TOPMed
rs1461506994 824 A>T No TOPMed
rs993892646
COSM1172378
824 A>V oesophagus [Cosmic] No cosmic curated
TOPMed
rs761885990 825 F>L No ExAC
TOPMed
gnomAD
rs1381047099 826 M>T No gnomAD
rs1443313950 826 M>V No TOPMed
COSM6080156 828 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs375508154 829 K>R No ESP
ExAC
TOPMed
gnomAD
rs1357287026 830 H>Q No TOPMed
gnomAD
rs2072618959 830 H>R No Ensembl
rs2072618888 832 P>T No TOPMed
gnomAD
rs2072618837
COSM1709845
833 W>* skin Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] No cosmic curated
Ensembl
NCI-TCGA Cosmic
TCGA novel 833 W>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM3513755
rs1408526493
834 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs1166255126 834 M>K No TOPMed
gnomAD
rs1567701999 836 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs1597419102 837 Y>C No TOPMed
rs1597419102 837 Y>F No TOPMed
rs1470446860 837 Y>N No TOPMed
rs374627618 839 K>E No ESP
ExAC
TOPMed
gnomAD
rs374627618 839 K>Q No ESP
ExAC
TOPMed
gnomAD
rs2072618497 840 I>N No gnomAD
COSM3513754 842 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072618429 842 P>S No TOPMed
COSM705142 842 P>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs748953866 844 L>P No ExAC
TOPMed
gnomAD
rs2072618228 845 K>E No TOPMed
rs1597419073 849 T>A No Ensembl
TCGA novel 849 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1007187936 849 T>R No TOPMed
rs1597419073 849 T>S No Ensembl
rs535227810 850 E>Q No TOPMed
gnomAD
rs755764532 852 E>K No ExAC
TOPMed
gnomAD
rs755764532 852 E>Q No ExAC
TOPMed
gnomAD
rs1329900263 853 M>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs747680205 854 A>P No ExAC
gnomAD
COSM3513751 854 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072617691 855 N>H No Ensembl
COSM705143 855 N>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1226825046 856 M>T No TOPMed
gnomAD
rs780822852 857 K>E No ExAC
TOPMed
gnomAD
rs780822852 857 K>Q No ExAC
TOPMed
gnomAD
rs2072617537 857 K>R No TOPMed
rs1395177031 858 E>A No TOPMed
gnomAD
rs1395177031 858 E>G No TOPMed
gnomAD
COSM1709844
rs1313161665
858 E>K Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs751506876 859 E>G No ExAC
gnomAD
rs754908749 859 E>K No ExAC
gnomAD
rs1207278245 860 F>L No TOPMed
gnomAD
rs1262987467 860 F>Y No TOPMed
gnomAD
rs1435235029 861 E>A No gnomAD
rs1446966521 861 E>D No TOPMed
rs1435235029 861 E>V No gnomAD
COSM1709843
rs766143426
863 T>I Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 864 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072617182 864 K>R No TOPMed
gnomAD
COSM1709842
rs998056901
865 E>K skin [Cosmic] No cosmic curated
TOPMed
gnomAD
rs758223626 867 L>P No ExAC
rs111451155 870 T>A No ExAC
gnomAD
rs1324983090 870 T>K No gnomAD
rs111451155 870 T>P No ExAC
gnomAD
rs111451155 870 T>S No ExAC
gnomAD
rs1298272007 871 E>K No gnomAD
rs371955336 872 A>E No ExAC
TOPMed
gnomAD
rs1166003339 872 A>S No gnomAD
rs1166003339 872 A>T No gnomAD
COSM4063822 873 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1480877429 874 R>K No TOPMed
gnomAD
rs1191035618 875 K>N No gnomAD
TCGA novel 876 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs757251552 877 L>P No Ensembl
rs776740713 877 L>V No ExAC
gnomAD
rs1366293575 878 E>G No gnomAD
rs2142219593 880 K>E No 1000Genomes
rs2072616463 881 M>T No gnomAD
rs3744558 883 T>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_022110
rs3744558
883 T>M No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs3744558 883 T>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1474554962 885 M>T No gnomAD
TCGA novel 886 Q>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3818786 887 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1371127550 887 E>K No gnomAD
rs952771983 892 Q>E No Ensembl
rs746252675 893 L>P No ExAC
gnomAD
rs1364288576 895 V>L No gnomAD
TCGA novel 897 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1387998336 897 A>P No TOPMed
gnomAD
rs1182721815 898 E>* No gnomAD
COSM3513750 898 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1223013557 899 A>E No TOPMed
gnomAD
rs1482589006 900 D>G No gnomAD
rs2072607326 901 A>T No gnomAD
rs1283738337 901 A>V No TOPMed
rs746559512 902 L>F No ExAC
TOPMed
gnomAD
rs138202203 902 L>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1254910592 906 E>A No gnomAD
COSM2924946
rs966567437
906 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs779381442 907 E>G No ExAC
gnomAD
rs2072607089 908 R>G No Ensembl
rs1352008261 909 C>S No gnomAD
rs2072607015 910 D>G No gnomAD
TCGA novel 910 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1410869047 913 I>M No gnomAD
rs772096174 917 I>N No ExAC
gnomAD
TCGA novel 918 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1020750131 918 Q>K No Ensembl
rs745775188 920 E>K No ExAC
gnomAD
COSM5686975 921 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1403447124 921 A>T No gnomAD
rs778748600 921 A>V No ExAC
gnomAD
rs1414519553 922 K>E No gnomAD
TCGA novel 925 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs778063184 926 V>G No ExAC
TOPMed
gnomAD
COSM75520 927 T>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 928 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM2924944 928 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072606442 929 R>K No TOPMed
rs2072606413 929 R>S No TOPMed
rs2072606371 930 A>D No TOPMed
rs2072606371 930 A>G No TOPMed
rs756253586 931 E>K No ExAC
TOPMed
gnomAD
rs756253586 931 E>Q No ExAC
TOPMed
gnomAD
rs756659582 932 D>E No ExAC
TOPMed
gnomAD
rs767459401 933 E>D No ExAC
TOPMed
gnomAD
rs760184385 934 E>A No ExAC
gnomAD
rs752096405 934 E>D No ExAC
TOPMed
gnomAD
COSM3513748 934 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072606218 934 E>Q No gnomAD
rs1330564825 935 E>G No gnomAD
TCGA novel 936 I>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1731021 938 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1268421786 939 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs766932691 941 T>I No ExAC
gnomAD
TCGA novel 942 A>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072605947 943 K>E No TOPMed
rs2072605919 943 K>T No Ensembl
rs1334050691 947 L>P No gnomAD
rs1334050691 947 L>Q No gnomAD
rs773406905 948 E>K No ExAC
gnomAD
rs775107620 949 D>E No ExAC
gnomAD
rs760223719 949 D>N No ExAC
TOPMed
gnomAD
rs539644363 951 C>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs771480181 951 C>G No ExAC
TOPMed
gnomAD
rs539644363 951 C>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs771480181 951 C>S No ExAC
TOPMed
gnomAD
rs539644363 951 C>Y No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 953 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1472999023 954 L>R No gnomAD
rs2072605394 955 K>E No Ensembl
rs1331059063 955 K>R No TOPMed
rs777387347 957 D>N No ExAC
gnomAD
rs1355361899 958 I>M No TOPMed
rs201589622 958 I>T No 1000Genomes
ExAC
gnomAD
rs752855160 959 D>N No ExAC
TOPMed
gnomAD
rs1033741063 960 D>V No TOPMed
gnomAD
rs2072604991 961 L>F No TOPMed
rs1230427429 962 E>Q No gnomAD
COSM4849424
rs751620819
963 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs144118927 963 L>V No ESP
ExAC
TOPMed
gnomAD
COSM6145634 964 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1462271152 966 A>T No TOPMed
gnomAD
rs535532484 968 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs374316163 968 V>I No ESP
TOPMed
gnomAD
rs374316163 968 V>L No ESP
TOPMed
gnomAD
rs750848299 969 E>K No ExAC
TOPMed
gnomAD
rs765488560 971 E>D No ExAC
TOPMed
gnomAD
rs1037104837 971 E>G No Ensembl
rs1436893624 972 K>N No TOPMed
gnomAD
rs2072604053 973 H>L No TOPMed
gnomAD
rs145607822 973 H>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1050159971 974 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1050159971 974 A>G No TOPMed
gnomAD
rs1389773372 974 A>T No gnomAD
rs942173104 975 T>I No TOPMed
gnomAD
rs942173104 975 T>K No TOPMed
gnomAD
rs2072603626 976 E>A No Ensembl
rs925231591 976 E>D No TOPMed
gnomAD
rs1420458817 976 E>Q No TOPMed
gnomAD
rs759053415 978 K>N No ExAC
TOPMed
gnomAD
COSM1722294 979 V>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs143118103 979 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1128831 980 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1276030439 980 K>R No gnomAD
rs1204464516 981 N>T No gnomAD
COSM4704623 981 N>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763002531 983 T>A No ExAC
gnomAD
rs2072599288 984 E>* No Ensembl
rs769703443 985 E>D No ExAC
TOPMed
gnomAD
rs747924988 986 M>K No ExAC
TOPMed
gnomAD
rs747924988 986 M>T No ExAC
TOPMed
gnomAD
rs2072599136 987 A>T No Ensembl
rs2072599090 988 G>R No TOPMed
gnomAD
rs2072599090 988 G>S No TOPMed
gnomAD
rs1488920472 988 G>V No TOPMed
rs769048292 990 D>E No ExAC
gnomAD
rs868809937 990 D>N No Ensembl
COSM4901030
rs866670641
991 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs866670641 991 E>Q No TOPMed
rs2072598761 993 I>N No Ensembl
TCGA novel 993 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072598697 994 A>T No Ensembl
rs1297356182 994 A>V No gnomAD
rs1044059039 997 T>N No gnomAD
rs747202653 998 K>R No ExAC
TOPMed
gnomAD
rs1468834018
COSM3513745
999 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1426812861 1000 K>R No TOPMed
gnomAD
COSM1216222
rs1426812861
1000 K>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1472684397 1001 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
TCGA novel
rs138556802
1001 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
NCI-TCGA
rs2072598297 1001 K>R No TOPMed
rs745904959 1002 A>S No ExAC
TOPMed
gnomAD
COSM4913321 1003 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1479951004 1003 L>P No gnomAD
rs757745172 1005 E>G No ExAC
rs1322886330 1006 A>G No gnomAD
rs754180639 1006 A>T No ExAC
gnomAD
rs1322886330 1006 A>V No gnomAD
COSM559485
rs1261283879
COSM6080157
1007 H>Q Variant assessed as Somatic; MODERATE impact. lung [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs1230496999 1010 T>I No gnomAD
rs1330015447 1013 D>E No gnomAD
rs1306043000 1015 Q>* No TOPMed
gnomAD
rs1306043000 1015 Q>K No TOPMed
gnomAD
rs575434453 1016 M>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs545765854 1016 M>R No 1000Genomes
ExAC
TOPMed
gnomAD
COSM705146
rs545765854
1016 M>T lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM705145
rs558061741
1016 M>V lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
NCI-TCGA
TOPMed
COSM705147 1017 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1403299537 1018 E>V No TOPMed
gnomAD
rs1362801931 1019 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs765954445 1019 D>N No ExAC
gnomAD
TCGA novel 1019 D>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1398216591 1023 T>N No TOPMed
gnomAD
TCGA novel 1024 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs150138598 1024 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
NCI-TCGA
TOPMed
gnomAD
rs762371662 1025 T>S No ExAC
gnomAD
rs2072597295 1025 T>S No TOPMed
COSM1324192 1026 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs200252070 1027 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs140849469 1031 L>V No ESP
ExAC
TOPMed
gnomAD
rs761786649 1032 E>* No ExAC
TOPMed
gnomAD
COSM3513743 1032 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs761786649 1032 E>Q No ExAC
TOPMed
gnomAD
rs1461227619 1033 Q>* No gnomAD
rs1461227619 1033 Q>E No gnomAD
rs1461227619 1033 Q>K No gnomAD
rs2072597127 1035 V>A No TOPMed
gnomAD
rs769042073 1036 D>N No ExAC
TOPMed
gnomAD
rs2072596959 1037 D>A No gnomAD
rs761037249 1037 D>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs2072596959 1037 D>G No gnomAD
rs143090408
COSM106397
1037 D>N Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs775374932 1038 L>P No ExAC
TOPMed
gnomAD
rs772212101 1040 G>R No ExAC
gnomAD
rs2142217503 1041 S>* No Ensembl
rs769658262
COSM975251
1046 K>N Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
rs2072594075 1046 K>R No Ensembl
TCGA novel 1047 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs759769347 1048 L>F No ExAC
TOPMed
gnomAD
rs759769347 1048 L>V No ExAC
TOPMed
gnomAD
rs2142217469 1049 C>R No Ensembl
rs2072593880 1050 M>I No TOPMed
rs2072593941 1050 M>L No Ensembl
rs1383760740 1050 M>T No TOPMed
gnomAD
rs2072593941 1050 M>V No Ensembl
COSM3513742
rs2072593848
1051 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1372611792 1054 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1245500167 1055 A>T No gnomAD
rs774340611 1056 K>R No ExAC
gnomAD
rs774340611 1056 K>T No ExAC
gnomAD
rs939198910 1058 K>I No Ensembl
COSM3889230 1061 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770240841 1062 D>E No ExAC
rs1276748776 1062 D>G No gnomAD
COSM4396688
rs1489784574
1062 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1338591164 1064 K>I No gnomAD
rs1196341378 1064 K>Q No TOPMed
gnomAD
rs1338591164 1064 K>T No gnomAD
rs2072593328 1065 L>S No TOPMed
gnomAD
COSM975250 1066 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1712032679 1066 A>V No Ensembl
COSM1380770 1068 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072593263 1068 E>K No gnomAD
rs1279121035 1069 S>C No TOPMed
gnomAD
rs2072593169 1071 M>L No Ensembl
COSM3513741 1072 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs998121646 1073 T>I No TOPMed
gnomAD
COSM3513740 1074 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs201422966 1076 D>N No 1000Genomes
ExAC
gnomAD
rs200557847 1077 K>Q No ESP
ExAC
TOPMed
gnomAD
rs945111451 1079 Q>* No TOPMed
rs2142217303 1081 N>D No Ensembl
rs1344045362 1081 N>K No gnomAD
rs368049108 1082 E>K No ESP
ExAC
TOPMed
gnomAD
rs756795625 1083 K>R No ExAC
gnomAD
rs1467646592 1084 L>H No gnomAD
rs1166288683 1084 L>I No gnomAD
rs1056421424 1087 K>N No Ensembl
TCGA novel
rs1362038893
1088 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1189558483 1088 E>G No gnomAD
rs1362038893 1088 E>Q No TOPMed
gnomAD
rs747269815 1091 M>I No ExAC
gnomAD
rs778641189
COSM1520173
1092 S>R lung [Cosmic] No cosmic curated
ExAC
gnomAD
rs1020473523 1093 N>Y No TOPMed
rs1284517084 1095 Q>* No gnomAD
TCGA novel 1096 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1206134518 1098 I>V No gnomAD
rs1597417804 1099 E>D No Ensembl
rs1350384582 1099 E>K No gnomAD
rs1278100620 1100 D>N No gnomAD
rs1248808697 1102 Q>* No TOPMed
gnomAD
rs1384106240 1103 A>P No gnomAD
rs1314527430 1104 L>F No gnomAD
rs368552432 1105 A>T No Ensembl
COSM3513738 1105 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1003442237 1106 I>K No Ensembl
VAR_030199
rs917361
1106 I>M No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1221894964 1107 Q>* No gnomAD
rs1319201819 1108 L>P No gnomAD
rs1567700885 1109 Q>* No Ensembl
rs1400287821 1109 Q>P No TOPMed
gnomAD
rs1400287821 1109 Q>R No TOPMed
gnomAD
rs757192625 1110 K>T No ExAC
TOPMed
gnomAD
rs752663517 1111 K>T No ExAC
gnomAD
rs144235311 1112 I>S No ESP
ExAC
TOPMed
gnomAD
rs1384522709 1112 I>V No TOPMed
gnomAD
COSM2924920 1114 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM5385645 1114 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1450761370 1116 Q>* No gnomAD
rs2072587319 1116 Q>H No TOPMed
rs1242391563 1116 Q>R No gnomAD
rs16943441
VAR_030200
1117 A>D No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs16943441 1117 A>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs560659055 1118 R>C No ExAC
TOPMed
gnomAD
COSM1380769
rs1248088400
1118 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs373776544 1119 I>T No ESP
ExAC
TOPMed
gnomAD
COSM4394151 1120 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072586283 1120 E>Q No TOPMed
rs751412957
COSM705149
1121 E>* lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs779803978 1121 E>A No ExAC
gnomAD
rs2072585929 1123 E>G No TOPMed
rs765376875 1123 E>Q No ExAC
gnomAD
rs753811729 1124 E>K No ExAC
TOPMed
gnomAD
rs1444870860 1124 E>V No gnomAD
rs764691231 1125 E>G No ExAC
TOPMed
gnomAD
COSM4403552
rs200153692
1125 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs758103116 1126 I>V No Ensembl
COSM3513737
rs574656865
1127 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs574656865 1127 E>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs775970722 1128 A>T No ExAC
TOPMed
gnomAD
rs772548795 1130 R>G No ExAC
TOPMed
gnomAD
rs1169215994 1130 R>Q No gnomAD
rs772548795 1130 R>W No ExAC
TOPMed
gnomAD
rs371105683 1132 S>C No gnomAD
TCGA novel 1132 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072585397 1132 S>P No TOPMed
gnomAD
rs762757884 1133 R>G No ExAC
TOPMed
gnomAD
rs987033458 1133 R>P No TOPMed
gnomAD
rs987033458 1133 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs762757884 1133 R>W No ExAC
TOPMed
gnomAD
rs2072585148 1134 A>T No Ensembl
rs1429029465 1134 A>V No gnomAD
rs1477644683 1135 K>E No TOPMed
gnomAD
COSM4063820 1136 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1137 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs772999096 1139 Q>* No ExAC
gnomAD
rs769526708
COSM435992
1140 R>C Variant assessed as Somatic; MODERATE impact. central_nervous_system breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769526708 1140 R>G No ExAC
TOPMed
gnomAD
rs149818821 1140 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149818821 1140 R>L No ESP
ExAC
TOPMed
gnomAD
rs769526708 1140 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1199351424 1141 S>C No TOPMed
gnomAD
rs1639998235 1142 D>G No TOPMed
COSM472270 1144 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3969802
rs534689609
1145 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs975567940 1145 R>W No TOPMed
gnomAD
COSM4901511 1146 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs183425834 1148 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs758195184 1149 E>D No ExAC
TOPMed
gnomAD
rs750161709 1150 I>M No ExAC
TOPMed
gnomAD
rs1439867855 1150 I>S No TOPMed
gnomAD
rs1439867855 1150 I>T No TOPMed
gnomAD
rs2072584409 1151 S>R No TOPMed
rs757380376 1153 R>S No ExAC
TOPMed
gnomAD
rs1403428792 1155 E>K No gnomAD
rs1403428792 1155 E>Q No gnomAD
rs753989447 1156 E>A No ExAC
TOPMed
gnomAD
rs966318616 1158 G>D No TOPMed
gnomAD
rs764056557
COSM4063819
1158 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1218852797 1159 G>R No Ensembl
rs761299869 1161 T>I No ExAC
TOPMed
gnomAD
rs761299869 1161 T>S No ExAC
TOPMed
gnomAD
rs1177159333 1163 A>D No gnomAD
rs200035231 1164 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1034993032 1164 Q>R No TOPMed
gnomAD
rs760004906 1165 I>T No ExAC
TOPMed
gnomAD
rs1204321579 1166 E>G No gnomAD
rs774820495 1167 M>T No ExAC
TOPMed
gnomAD
rs765024883 1168 N>S No ExAC
gnomAD
rs139851738 1169 K>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2142216443 1169 K>Q No Ensembl
rs147723359
COSM302706
1171 R>Q central_nervous_system [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs768048365 1171 R>W No ExAC
TOPMed
gnomAD
rs781008972 1172 E>K No TOPMed
rs775420610 1173 A>S No ExAC
gnomAD
rs775420610 1173 A>T No ExAC
gnomAD
rs1315208782 1174 E>K No TOPMed
gnomAD
rs2072583349 1175 F>C No TOPMed
gnomAD
rs745693762 1176 Q>R No ExAC
TOPMed
gnomAD
rs778646470 1178 M>I No ExAC
TOPMed
gnomAD
rs1271994413 1178 M>T No Ensembl
rs757546892 1179 R>C No ExAC
TOPMed
rs752287908 1179 R>H No ExAC
TOPMed
gnomAD
rs752287908 1179 R>L No ExAC
TOPMed
gnomAD
rs752287908 1179 R>P No ExAC
TOPMed
gnomAD
rs757546892 1179 R>S No ExAC
TOPMed
rs1294871572 1180 R>K No TOPMed
gnomAD
rs2072582838 1180 R>S No TOPMed
rs777973144 1181 D>N No ExAC
gnomAD
rs1346193897 1182 L>M No gnomAD
rs2072582695 1182 L>P No gnomAD
COSM3889229
rs756149036
1183 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs949287079 1184 E>D No TOPMed
COSM3513734 1184 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs768173930 1185 S>A No ExAC
gnomAD
rs755514203 1185 S>F No ExAC
gnomAD
rs1597417477 1186 T>P No Ensembl
rs1188534711 1187 L>R No TOPMed
gnomAD
rs2072582149 1189 H>Y No Ensembl
COSM4063818
rs766733986
1190 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202092228 1192 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1292373709 1192 T>P No gnomAD
rs1382441686 1193 A>E No gnomAD
rs1297047217 1193 A>S No gnomAD
rs1382441686 1193 A>V No gnomAD
rs1237006529 1196 L>F No TOPMed
gnomAD
rs770623983 1197 R>L No ExAC
TOPMed
gnomAD
rs770623983 1197 R>Q No ExAC
TOPMed
gnomAD
rs745781422 1197 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs61745308 1198 K>Q No ExAC
TOPMed
gnomAD
rs1368058892 1199 K>Q No gnomAD
rs909052554 1199 K>R No TOPMed
gnomAD
TCGA novel 1200 H>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1366797907 1200 H>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1424537580 1200 H>Y No gnomAD
rs199911085 1201 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs199911085 1201 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs369346437 1202 D>G No ESP
ExAC
gnomAD
rs2072580402 1205 A>S No TOPMed
rs755604337 1207 L>F No ExAC
gnomAD
rs755604337 1207 L>V No ExAC
gnomAD
rs11651295 1209 E>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_030201
rs11651295
1209 E>K No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs11651295 1209 E>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376404318 1211 I>T No ESP
ExAC
TOPMed
gnomAD
rs758703337 1211 I>V No ExAC
gnomAD
rs141172847 1212 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1567700549 1212 D>N No Ensembl
rs141172847 1212 D>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1306629267 1213 S>C No TOPMed
gnomAD
rs1306629267 1213 S>G No TOPMed
gnomAD
rs1292967796 1213 S>N No TOPMed
gnomAD
rs766999823 1216 R>L No ExAC
gnomAD
rs766999823 1216 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs202186253 1216 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1597417323 1217 V>G No Ensembl
rs549913706 1219 Q>* No 1000Genomes
ExAC
TOPMed
gnomAD
rs774158720 1219 Q>H No ExAC
TOPMed
gnomAD
rs549913706 1219 Q>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs989068270 1220 K>N No TOPMed
gnomAD
rs770839097 1220 K>R No ExAC
TOPMed
gnomAD
rs770839097 1220 K>T No ExAC
TOPMed
gnomAD
rs1429742769 1221 L>Q No gnomAD
rs374726225 1221 L>V No ESP
ExAC
TOPMed
gnomAD
rs1258473540 1222 E>Q No gnomAD
COSM1709840 1224 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072578995 1225 K>M No TOPMed
gnomAD
COSM975248 1225 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs752710387 1226 S>G No Ensembl
rs148634488 1226 S>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200647917 1227 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs781491412 1227 E>G No ExAC
gnomAD
rs748369865 1227 E>K No ExAC
gnomAD
rs747029146 1228 L>P No ExAC
TOPMed
gnomAD
rs2142216094 1230 M>I No Ensembl
rs1023584107 1230 M>V No Ensembl
rs2072578577 1232 I>T No Ensembl
rs2142216082 1233 N>D No Ensembl
rs899022774 1233 N>K No Ensembl
rs1284391165 1233 N>S No gnomAD
rs750793248 1234 D>N No ExAC
TOPMed
gnomAD
rs750793248 1234 D>Y No ExAC
TOPMed
gnomAD
rs779314674 1235 L>V No ExAC
TOPMed
gnomAD
rs867472356 1237 S>N No Ensembl
rs774640951 1239 M>T No Ensembl
rs1392432865 1239 M>V No TOPMed
gnomAD
rs752341161 1240 E>G No ExAC
gnomAD
rs755820171 1240 E>K No ExAC
TOPMed
gnomAD
rs1407096530 1241 T>A No TOPMed
gnomAD
rs1407096530 1241 T>P No TOPMed
gnomAD
rs759057518 1242 V>A No ExAC
TOPMed
gnomAD
rs759057518 1242 V>D No ExAC
TOPMed
gnomAD
rs759057518 1242 V>G No ExAC
TOPMed
gnomAD
COSM435991 1245 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs751028346
COSM559488
COSM6080158
1246 K>N lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
ExAC
gnomAD
NCI-TCGA Cosmic
rs750381660 1247 A>T No ExAC
gnomAD
rs1228470987 1248 N>T No TOPMed
gnomAD
rs1040440089 1252 M>K No TOPMed
gnomAD
rs1040440089 1252 M>T No TOPMed
gnomAD
rs149490425 1254 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200121484
COSM180572
1254 R>H large_intestine [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM353935
rs540884659
1255 T>S lung [Cosmic] No cosmic curated
1000Genomes
ExAC
gnomAD
rs1353705470
COSM313028
1256 L>V lung [Cosmic] No cosmic curated
gnomAD
rs760928970 1257 E>Q No ExAC
TOPMed
gnomAD
rs772186066 1259 Q>P No ExAC
TOPMed
gnomAD
rs772186066 1259 Q>R No ExAC
TOPMed
gnomAD
rs745867889 1260 L>H No ExAC
gnomAD
rs2072572155 1261 S>N No Ensembl
RCV000952758
rs34610503
1261 S>R No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 1262 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1263 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs771377301 1264 K>I No ExAC
gnomAD
rs1567700217 1265 T>A No Ensembl
rs2072571871 1266 K>E No TOPMed
gnomAD
COSM5724260
rs865831195
1267 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs2072571717 1268 E>G No TOPMed
gnomAD
rs373384334 1269 E>K No ESP
ExAC
TOPMed
gnomAD
rs1481121509 1270 Q>E No TOPMed
gnomAD
rs189738574 1272 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs189738574 1272 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs757941172 1272 R>H No ExAC
TOPMed
gnomAD
rs757941172 1272 R>P No ExAC
TOPMed
gnomAD
rs749854300 1274 I>V No ExAC
gnomAD
rs765298731 1276 E>D No ExAC
gnomAD
rs1261429388 1277 L>* No gnomAD
rs1225371790 1277 L>F No TOPMed
gnomAD
rs1488156536 1277 L>M No TOPMed
gnomAD
rs145453135 1278 S>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1289317800 1279 A>T No gnomAD
rs753734218 1279 A>V No ExAC
gnomAD
rs2072571049 1280 Q>H No Ensembl
rs141846097 1282 A>G No ESP
ExAC
TOPMed
gnomAD
rs1341777727 1282 A>P No gnomAD
rs1341777727 1282 A>S No gnomAD
rs141846097 1282 A>V No ESP
ExAC
TOPMed
gnomAD
rs117895047 1283 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs117895047 1283 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138779851 1283 R>H No ESP
ExAC
TOPMed
gnomAD
rs138779851 1283 R>L No ESP
ExAC
TOPMed
gnomAD
rs117895047 1283 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1304664348
COSM5810200
1285 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs2142215289 1285 H>Y No Ensembl
rs995951685 1286 T>K No TOPMed
gnomAD
rs995951685 1286 T>R No TOPMed
gnomAD
COSM3513733 1287 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs991841702 1288 S>T No TOPMed
gnomAD
rs762957514 1289 G>A No ExAC
gnomAD
rs762957514 1289 G>D No ExAC
gnomAD
rs372406999 1289 G>S No ESP
ExAC
TOPMed
gnomAD
COSM6145636 1290 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs773726393 1290 E>V No ExAC
gnomAD
rs150398276 1291 F>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763090716
COSM5487311
1293 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs565082643 1293 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs1335186818 1294 Q>H No TOPMed
gnomAD
TCGA novel 1295 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072565561 1296 D>G No TOPMed
rs1161450776 1296 D>N No gnomAD
COSM4903103
rs267604704
1297 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs2072565470 1298 K>E No TOPMed
rs140459675 1298 K>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3818785 1299 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM342219 1299 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs745501003 1300 A>P No ExAC
gnomAD
rs745501003 1300 A>S No ExAC
gnomAD
rs1311415448 1300 A>V No TOPMed
gnomAD
rs942096262 1301 M>T No Ensembl
rs778631580 1301 M>V No ExAC
gnomAD
rs2072565250 1302 V>F No Ensembl
COSM4942569 1303 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3513731 1304 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs748749720 1304 Q>H No ExAC
gnomAD
rs1459075599 1305 L>Q No Ensembl
rs1013149936 1306 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs151253822
COSM180571
1307 R>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs531306170 1307 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs2072564876 1308 G>V No Ensembl
rs1597416627 1310 Q>* No Ensembl
rs1597416627 1310 Q>E No Ensembl
RCV000898031
rs143271333
1311 A>T No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs940157631 1312 F>L No Ensembl
COSM705150 1315 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1358953939 1315 Q>L No gnomAD
rs780825257 1316 I>F No ExAC
TOPMed
gnomAD
rs368290635 1316 I>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780825257 1316 I>V No ExAC
TOPMed
gnomAD
rs2072564569 1317 E>Q No Ensembl
COSM4546216 1318 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1178151179 1319 L>F No TOPMed
gnomAD
rs751786895 1319 L>S No ExAC
gnomAD
rs2072564484 1321 R>K No TOPMed
TCGA novel 1321 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1437882723 1321 R>S No TOPMed
gnomAD
rs375726698 1323 L>P No ESP
TOPMed
COSM3513730 1324 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763046982 1325 E>D No ExAC
gnomAD
rs766533991 1325 E>G No ExAC
gnomAD
rs1200956007 1325 E>Q No TOPMed
gnomAD
rs765813801 1326 E>G No ExAC
gnomAD
rs750462554 1326 E>K No ExAC
TOPMed
gnomAD
rs2072564153 1327 T>A No Ensembl
rs2072564153 1327 T>S No Ensembl
rs371220617 1327 T>S No ESP
ExAC
TOPMed
gnomAD
rs1317485552 1328 K>R No TOPMed
gnomAD
rs1317485552 1328 K>T No TOPMed
gnomAD
rs1373040808 1329 A>P No TOPMed
gnomAD
TCGA novel 1329 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1319595841 1330 K>E No gnomAD
rs1319595841 1330 K>Q No gnomAD
rs2072562482 1330 K>R No Ensembl
rs2072562448 1331 S>G No gnomAD
rs1243341718 1332 T>N No gnomAD
rs1597416484 1332 T>P No Ensembl
TCGA novel 1334 A>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1031936031 1334 A>T No TOPMed
gnomAD
rs914390355 1334 A>V No Ensembl
rs2072562253 1335 H>Y No TOPMed
rs989911814 1336 A>D No gnomAD
rs989911814 1336 A>V No gnomAD
rs2072562146 1339 S>P No Ensembl
rs765219970 1341 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs757847488 1341 R>H No ExAC
TOPMed
gnomAD
rs757847488 1341 R>P No ExAC
TOPMed
gnomAD
rs754303548 1342 H>Q No ExAC
TOPMed
gnomAD
rs1367994113 1342 H>R No TOPMed
gnomAD
TCGA novel 1342 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072561943 1343 D>N No Ensembl
rs1567699833 1346 L>P No Ensembl
rs532853249 1348 R>G No ExAC
TOPMed
gnomAD
rs142444048 1348 R>Q No ESP
ExAC
TOPMed
gnomAD
COSM357845
rs532853249
1348 R>W lung large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1280505347 1351 Y>H No TOPMed
gnomAD
TCGA novel 1352 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs766165386 1352 E>G No ExAC
gnomAD
rs2072561571 1353 E>K No TOPMed
TCGA novel 1354 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs199637077 1354 E>K No TOPMed
rs199637077 1354 E>Q No TOPMed
rs2072561402 1355 Q>R No Ensembl
TCGA novel
rs1208775437
1357 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1208775437 1357 A>G No TOPMed
gnomAD
rs1264912977 1357 A>T No TOPMed
gnomAD
rs1208775437 1357 A>V No TOPMed
gnomAD
rs200793281 1358 K>E No 1000Genomes
ExAC
gnomAD
rs1013367290 1359 A>T No Ensembl
rs1187512563 1359 A>V No TOPMed
gnomAD
rs981144873 1360 E>K No Ensembl
rs776459596 1361 L>R No ExAC
gnomAD
rs1278037654 1362 Q>R No TOPMed
gnomAD
rs201813015 1363 R>K No 1000Genomes
ExAC
gnomAD
rs1360551263 1364 G>A No TOPMed
gnomAD
rs1360551263 1364 G>E No TOPMed
gnomAD
COSM3513729 1364 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1360551263 1364 G>V No TOPMed
gnomAD
COSM3795259 1366 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs971078039 1367 K>R No TOPMed
gnomAD
rs971078039 1367 K>T No TOPMed
gnomAD
rs2072560851 1369 N>D No TOPMed
gnomAD
rs746847930 1369 N>K No ExAC
gnomAD
rs1175598762 1369 N>S No TOPMed
gnomAD
rs1388672752 1370 S>I No gnomAD
rs1388672752 1370 S>N No gnomAD
rs758679319 1371 E>D No ExAC
TOPMed
gnomAD
rs779803688 1371 E>G No ExAC
TOPMed
gnomAD
rs2072560664 1373 A>T No Ensembl
TCGA novel 1374 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs746074079 1374 Q>R No ExAC
TOPMed
gnomAD
rs779123712 1375 W>* No ExAC
gnomAD
rs34987433 1377 T>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs34987433 1377 T>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145607023 1378 K>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375911403 1379 Y>* No ESP
ExAC
TOPMed
gnomAD
rs759797559 1379 Y>D No ExAC
TOPMed
gnomAD
rs759797559 1379 Y>H No ExAC
TOPMed
gnomAD
rs2072560320 1380 E>D No TOPMed
rs199837494
COSM1709839
1380 E>K Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs930410014 1381 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
COSM3513728 1382 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1256887047 1383 A>S No TOPMed
gnomAD
rs1256887047
COSM975246
1383 A>T Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs2072560154 1384 I>T No Ensembl
rs1047799275 1385 Q>R No Ensembl
rs201301118
COSM975245
1386 R>C endometrium [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs201301118 1386 R>G No ExAC
TOPMed
gnomAD
COSM294591
rs768630081
1386 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1485101717 1387 T>A No TOPMed
gnomAD
TCGA novel 1388 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs775332751
COSM357970
1389 E>D lung [Cosmic] No cosmic curated
ExAC
gnomAD
rs1427822102 1389 E>K No gnomAD
rs2072559892 1390 L>P No TOPMed
COSM223852
rs771857725
1391 E>K skin [Cosmic] No cosmic curated
ExAC
gnomAD
rs1254209731 1392 E>K No TOPMed
gnomAD
rs745617121 1393 A>S No ExAC
gnomAD
rs745617121 1393 A>T No ExAC
gnomAD
rs1259528530 1394 K>R No gnomAD
rs749508489 1395 K>N No ExAC
TOPMed
gnomAD
rs370459149 1397 L>P No ESP
ExAC
TOPMed
gnomAD
rs370459149 1397 L>Q No ESP
ExAC
TOPMed
gnomAD
rs781773161 1398 A>D No ExAC
TOPMed
gnomAD
rs781773161 1398 A>G No ExAC
TOPMed
gnomAD
rs781773161 1398 A>V No ExAC
TOPMed
gnomAD
rs147966650 1399 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373105410 1400 R>C No ESP
ExAC
TOPMed
gnomAD
rs369407729 1400 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2142212669 1401 L>P No Ensembl
rs756927703 1402 Q>* No ExAC
TOPMed
gnomAD
TCGA novel 1402 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs763676829 1403 D>N No ExAC
TOPMed
gnomAD
rs1597415704 1404 A>S No Ensembl
COSM4940908 1405 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1242826345 1405 E>V No gnomAD
TCGA novel 1406 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2072544287 1406 E>K No TOPMed
gnomAD
rs760199749 1407 H>Y No ExAC
gnomAD
rs2072544205 1409 E>A No Ensembl
rs747413354 1409 E>K No ExAC
TOPMed
gnomAD
rs747413354 1409 E>Q No ExAC
TOPMed
gnomAD
rs1399390545 1410 A>G No TOPMed
gnomAD
rs778274146 1411 V>A No Ensembl
rs2072544114 1412 N>S No TOPMed
rs2072544085 1414 K>N No TOPMed
COSM6080160 1415 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs201934117 1415 C>Y No 1000Genomes
ExAC
gnomAD
rs566584449 1416 A>G No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1417 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1161129176 1419 E>A No gnomAD
rs1040645933 1420 K>N No Ensembl
rs773594087 1421 T>I No ExAC
TOPMed
gnomAD
rs773594087 1421 T>R No ExAC
TOPMed
gnomAD
rs1249930810 1423 Q>H No TOPMed
rs2072543681 1424 R>K No TOPMed
COSM2924891 1428 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1194831647 1431 D>G No gnomAD
rs551169093
COSM975242
1432 L>F Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
rs1188213463 1433 M>I No TOPMed
rs776833623 1433 M>K No ExAC
gnomAD
rs748282037 1433 M>V No ExAC
TOPMed
gnomAD
rs547505768 1434 I>M No ExAC
gnomAD
rs1224358883 1434 I>N No gnomAD
rs2072543351 1435 D>N No Ensembl
rs747548431 1436 V>M No ExAC
gnomAD
rs370141150
COSM3402583
1438 R>* Variant assessed as Somatic; HIGH impact. central_nervous_system [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs139449510 1438 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139449510 1438 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1376948671 1440 N>I No TOPMed
TCGA novel 1440 N>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1217753960 1442 A>V No TOPMed
gnomAD
rs1276570228 1443 C>* No gnomAD
TCGA novel 1443 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs777434182 1443 C>S No ExAC
TOPMed
gnomAD
TCGA novel 1443 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs199631660 1444 I>T No 1000Genomes
ExAC
gnomAD
rs752253380 1445 A>G No ExAC
TOPMed
gnomAD
rs2072542879 1445 A>S No Ensembl
rs766168759 1447 D>G No ExAC
TOPMed
gnomAD
COSM225378
rs751516938
1447 D>N NS skin haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs150514431 1448 K>Q No ESP
ExAC
TOPMed
gnomAD
rs2142212491 1451 R>G No Ensembl
rs1301432607 1451 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
COSM3513726 1451 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs773113530 1453 F>C No ExAC
TOPMed
gnomAD
TCGA novel 1454 D>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs986257571 1454 D>E No gnomAD
rs1567699132 1454 D>V No TOPMed
rs765120617 1457 L>P No ExAC
TOPMed
gnomAD
rs2072541184 1458 A>E No Ensembl
rs1353801620 1459 E>K No gnomAD
TCGA novel 1460 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM1380768 1461 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776926558 1462 Q>* No ExAC
TOPMed
gnomAD
TCGA novel 1463 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072540960 1463 K>T No TOPMed
rs540842824 1464 Y>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs540842824 1464 Y>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs2072540930 1464 Y>H No TOPMed
gnomAD
rs540842824 1464 Y>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs758608739 1468 Q>E No ExAC
gnomAD
rs758608739 1468 Q>K No ExAC
gnomAD
COSM341080 1470 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1358897928 1471 L>F No gnomAD
rs1358897928
COSM975241
1471 L>I Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1567699067 1471 L>P No Ensembl
rs1567699060 1472 E>G No Ensembl
rs772615336 1472 E>Q No ExAC
gnomAD
rs774759925 1473 A>D No ExAC
TOPMed
gnomAD
rs774759925 1473 A>G No ExAC
TOPMed
gnomAD
rs760022350 1473 A>T No ExAC
TOPMed
gnomAD
rs1417628767 1474 S>F No gnomAD
rs796162284 1475 Q>* No Ensembl
rs112589958 1475 Q>R No ExAC
TOPMed
gnomAD
rs780917874 1477 E>K No ExAC
TOPMed
gnomAD
rs768165008 1478 S>* No ExAC
TOPMed
gnomAD
rs768165008 1478 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1452946539 1478 S>T No gnomAD
rs768165008 1478 S>W No ExAC
TOPMed
gnomAD
COSM435990
rs61745309
1479 R>C breast [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1488567340
COSM705155
1479 R>H lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1488567340 1479 R>L No TOPMed
gnomAD
rs750395177 1482 S>T No ExAC
TOPMed
gnomAD
rs2072539919 1483 T>I No Ensembl
rs1323192898 1486 F>L No TOPMed
gnomAD
rs1313015704 1487 K>Q No gnomAD
rs2072539685 1488 V>A No gnomAD
rs778940260 1488 V>L No ExAC
TOPMed
gnomAD
rs778940260 1488 V>M No ExAC
TOPMed
gnomAD
rs1034005401 1489 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs757143133 1491 A>T No ExAC
gnomAD
rs1361730347 1491 A>V No gnomAD
rs753534048 1492 Y>* No ExAC
TOPMed
gnomAD
COSM975238
rs2072539557
1492 Y>C Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
TCGA novel 1492 Y>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs764414171 1493 E>D No ExAC
TOPMed
gnomAD
rs1451700052
COSM1709838
1493 E>K Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
COSM6145637 1494 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1709837 1495 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1025373253 1495 S>T No Ensembl
rs760782897 1495 S>Y No ExAC
gnomAD
TCGA novel 1496 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1002727252 1496 L>V No TOPMed
gnomAD
rs767580229 1497 D>H No ExAC
gnomAD
TCGA novel 1497 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM417207 1498 H>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3513724 1498 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs375265324 1499 L>P No ESP
ExAC
TOPMed
gnomAD
rs375265324 1499 L>R No ESP
ExAC
TOPMed
gnomAD
rs2072539024 1502 L>V No TOPMed
rs1323112846 1503 K>Q No TOPMed
gnomAD
rs1025892606 1504 R>* No TOPMed
gnomAD
rs372199278 1504 R>Q No ESP
ExAC
TOPMed
gnomAD
TCGA novel 1510 Q>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM1563420
rs545963911
1511 Q>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel
rs773693536
1511 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
NCI-TCGA
rs370507324 1514 S>C No ESP
TOPMed
gnomAD
COSM3818784 1515 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1382070950 1517 T>A No Ensembl
rs146240035 1517 T>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146240035 1517 T>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM975237 1518 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs539159122 1518 E>Q No 1000Genomes
ExAC
TOPMed
gnomAD
COSM5706287 1519 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072537393 1519 Q>R No gnomAD
rs568889684 1520 I>T No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1521 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1447709059 1522 E>A No gnomAD
rs550607214 1522 E>K No 1000Genomes
ExAC
gnomAD
rs550607214 1522 E>Q No 1000Genomes
ExAC
gnomAD
rs773974223 1523 G>A No ExAC
TOPMed
gnomAD
rs866181641 1524 G>R No gnomAD
rs528863275 1525 K>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs2072537095 1526 H>N No TOPMed
rs181765764 1527 I>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777699912 1527 I>N No ExAC
gnomAD
rs1178876806 1528 H>R No TOPMed
gnomAD
rs747887981 1528 H>Y No ExAC
gnomAD
rs141781553 1529 E>* No ESP
ExAC
TOPMed
gnomAD
rs138746427 1529 E>V No ESP
ExAC
TOPMed
gnomAD
rs2072536849 1530 L>P No TOPMed
rs1484553229 1532 K>T No gnomAD
rs1257120101 1533 V>I No TOPMed
gnomAD
TCGA novel
rs766443281
1534 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
NCI-TCGA
rs750911851 1537 L>F No ExAC
TOPMed
gnomAD
rs1376435933 1537 L>P No TOPMed
gnomAD
rs1376435933 1537 L>R No TOPMed
gnomAD
rs868682593 1538 D>N No gnomAD
rs200269775 1539 H>R No ExAC
TOPMed
gnomAD
COSM3513723 1539 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM975236 1541 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1302227741 1542 S>N No TOPMed
gnomAD
rs1041841623 1543 E>K No Ensembl
rs762118343 1544 L>P No ExAC
TOPMed
gnomAD
rs762118343 1544 L>Q No ExAC
TOPMed
gnomAD
rs762118343 1544 L>R No ExAC
TOPMed
gnomAD
rs777107832 1545 Q>P No ExAC
TOPMed
gnomAD
rs777107832 1545 Q>R No ExAC
TOPMed
gnomAD
COSM230330 1547 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs767325292 1547 S>Y No ExAC
gnomAD
rs143170467 1549 E>A No ESP
ExAC
TOPMed
gnomAD
rs759247513 1549 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1257219835 1550 E>D No gnomAD
rs770347916 1550 E>G No ExAC
TOPMed
gnomAD
TCGA novel 1551 A>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1385857981 1553 A>E No TOPMed
gnomAD
rs1416166399 1553 A>P No gnomAD
COSM6145638 1553 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM472269 1553 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM705156 1554 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1474536733 1554 S>T No gnomAD
rs2072531903 1555 L>I No Ensembl
rs1194972803 1555 L>P No TOPMed
gnomAD
COSM2924879
rs1366396326
1558 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs149540598 1559 E>G No ESP
ExAC
TOPMed
gnomAD
rs772745498 1560 G>V No ExAC
gnomAD
rs371801767 1563 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
COSM106436
rs149046569
1564 R>C skin [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs149046569 1564 R>G No ExAC
TOPMed
gnomAD
rs141756717 1564 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1481701221 1565 I>T No Ensembl
rs2072531566 1566 Q>K No TOPMed
rs768453596 1567 L>F No ExAC
TOPMed
gnomAD
TCGA novel 1568 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1178887633 1569 L>P No gnomAD
rs746762062 1570 N>K No ExAC
gnomAD
rs1567698717
COSM3513722
1571 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs946233828 1572 V>A No Ensembl
COSM705157
rs1324183321
1572 V>M lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs780174410 1573 K>I No ExAC
gnomAD
COSM705158 1574 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1405664053 1574 S>P No TOPMed
gnomAD
rs1405664053 1574 S>T No TOPMed
gnomAD
rs917355687 1575 E>D No Ensembl
rs2072531266 1575 E>Q No TOPMed
gnomAD
rs1567698704 1576 I>L No Ensembl
rs138681227 1576 I>T No ESP
ExAC
TOPMed
gnomAD
rs2072531132 1577 D>N No TOPMed
gnomAD
rs779034071 1578 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs761755212 1578 R>L No ExAC
TOPMed
gnomAD
rs761755212 1578 R>Q No ExAC
TOPMed
gnomAD
rs937364411 1580 I>N No Ensembl
rs754397897 1581 A>P No ExAC
TOPMed
gnomAD
rs1006761259 1582 E>Q No TOPMed
gnomAD
rs778362098 1584 D>H No ExAC
gnomAD
COSM1709835
rs778362098
1584 D>N skin [Cosmic] No cosmic curated
ExAC
gnomAD
rs756569287 1584 D>V No ExAC
gnomAD
rs1452455173 1585 E>Q No gnomAD
rs2072530735 1587 L>H No Ensembl
rs1212012833 1588 D>H No TOPMed
gnomAD
COSM4902933
rs1212012833
1588 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs2142211307 1589 Q>H No Ensembl
rs774280659 1590 L>P No TOPMed
gnomAD
rs774280659 1590 L>Q No TOPMed
gnomAD
rs762642591 1591 K>* No ExAC
gnomAD
rs138113590 1591 K>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764733480 1592 R>G No ExAC
gnomAD
rs372593376 1592 R>K No ESP
ExAC
TOPMed
gnomAD
rs372593376 1592 R>T No ESP
ExAC
TOPMed
gnomAD
rs2072530402 1593 N>D No TOPMed
rs2072530369 1593 N>S No TOPMed
rs1348789739 1594 H>N No TOPMed
rs1567698645 1597 V>A No Ensembl
TCGA novel 1598 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1600 S>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs768085255 1601 M>I No TOPMed
gnomAD
rs1309445141 1601 M>L No TOPMed
gnomAD
rs1402928736 1601 M>T No gnomAD
rs1597415003 1602 Q>L No Ensembl
rs146965064
RCV000962469
1603 S>N No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM6145639 1605 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1349105101 1605 L>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1230527532 1606 D>G No TOPMed
rs1286934788 1606 D>N No TOPMed
gnomAD
rs1286934788 1606 D>Y No TOPMed
gnomAD
rs772244506 1608 E>D No ExAC
TOPMed
gnomAD
COSM6080162 1608 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072529900 1610 R>G No Ensembl
rs2142211176 1611 S>R No Ensembl
rs1394484060 1614 D>E No TOPMed
gnomAD
rs1321177621 1614 D>Y No TOPMed
COSM4924385 1616 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
RCV000122551
rs386352334
CA232313
1617 R>G No ClinGen
ClinVar
Ensembl
dbSNP
COSM3513720 1617 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1011155618 1617 R>S No TOPMed
rs778931304 1618 I>T No ExAC
gnomAD
rs2072529629 1619 K>N No Ensembl
rs2072529580 1620 K>E No TOPMed
rs749331128 1620 K>N No ExAC
TOPMed
gnomAD
rs2072529458 1621 K>E No TOPMed
rs1276990712 1622 M>T No TOPMed
gnomAD
COSM3513717
rs778455809
1624 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2072529311
TCGA novel
1624 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs201475437 1625 D>G No 1000Genomes
COSM3513716 1626 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072529200 1626 L>R No TOPMed
COSM3513715 1627 N>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2142211118 1630 E>G No Ensembl
COSM3889227 1630 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs965232190 1631 I>V No TOPMed
gnomAD
rs1280681037 1632 Q>* No gnomAD
rs1249534277 1632 Q>H No TOPMed
gnomAD
rs868761997
COSM2924871
1636 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs2072528948 1636 A>T No gnomAD
rs868761997 1636 A>V No gnomAD
rs2072528864 1637 N>K No TOPMed
rs756656952
COSM240788
1638 R>C prostate [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs781618312 1638 R>H No ExAC
gnomAD
rs781618312 1638 R>L No ExAC
gnomAD
rs560552769 1640 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs200529120 1641 A>T No ESP
ExAC
TOPMed
gnomAD
rs750103802 1641 A>V No ExAC
gnomAD
rs1441956524 1642 E>K No TOPMed
gnomAD
rs557672306 1643 A>T No 1000Genomes
ExAC
rs753318940 1643 A>V No ExAC
TOPMed
gnomAD
rs1370734356 1646 N>H No Ensembl
rs764071086 1646 N>K No ExAC
TOPMed
gnomAD
rs2072528425 1647 L>F No Ensembl
rs928153238 1649 N>H No TOPMed
gnomAD
rs376588342 1652 G>E No ESP
ExAC
TOPMed
gnomAD
rs2072528353 1652 G>R No Ensembl
rs767346356 1654 L>P No ExAC
TOPMed
gnomAD
rs759191247 1655 K>Q No ExAC
TOPMed
gnomAD
rs774256554 1658 Q>* No ExAC
TOPMed
gnomAD
rs774256554 1658 Q>E No ExAC
TOPMed
gnomAD
rs112636796 1658 Q>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2072521717 1661 L>F No Ensembl
rs769933232 1662 D>H No ExAC
gnomAD
COSM3969801 1662 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1664 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs147084538 1664 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3402582 1665 I>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072521554 1665 I>T No TOPMed
TCGA novel 1666 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs966386646 1667 G>D No TOPMed
COSM40353 1669 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1383457454 1670 D>E No TOPMed
gnomAD
TCGA novel 1670 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072521406 1671 L>P No Ensembl
rs1460737267 1672 K>R No TOPMed
gnomAD
rs1460737267 1672 K>T No TOPMed
gnomAD
COSM975234 1676 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs114833795 1676 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2072521151 1677 M>I No Ensembl
rs1260484119 1677 M>V No gnomAD
rs748940973 1678 V>F No ExAC
gnomAD
rs575635168 1679 E>D No TOPMed
gnomAD
rs149007526
COSM1128832
1680 R>C Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781229189
COSM3969800
1680 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781229189 1680 R>L No ExAC
TOPMed
gnomAD
rs781229189 1680 R>P No ExAC
TOPMed
gnomAD
rs897995070 1681 R>G No TOPMed
gnomAD
rs754849219 1681 R>K No ExAC
rs1036347756 1682 A>G No TOPMed
gnomAD
rs1212862819 1684 L>R No gnomAD
rs1295025549 1684 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs202056932 1685 M>L No ExAC
TOPMed
gnomAD
rs1440387416 1685 M>T No gnomAD
rs1392085836 1686 Q>* No gnomAD
rs1392085836 1686 Q>E No gnomAD
rs762780447 1687 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs2072520491 1688 E>K No Ensembl
rs372233194 1689 V>A No ESP
ExAC
TOPMed
gnomAD
rs2072520456 1689 V>I No TOPMed
gnomAD
rs2072520393 1692 L>F No Ensembl
rs1307309485 1693 R>K No TOPMed
gnomAD
rs1372416677 1694 A>T No TOPMed
gnomAD
rs1451067234 1695 S>F No gnomAD
rs2072520211 1696 L>M No Ensembl
COSM975233 1696 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs151306433 1698 R>G No ESP
ExAC
TOPMed
gnomAD
rs367611380 1698 R>Q No ESP
ExAC
TOPMed
gnomAD
rs151306433 1698 R>W No ESP
ExAC
TOPMed
gnomAD
rs2072520031 1699 T>S No gnomAD
rs2072520007 1701 R>K No TOPMed
TCGA novel 1702 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2142210136 1702 G>S No Ensembl
rs1197917173 1704 K>E No gnomAD
rs2072519884 1704 K>N No gnomAD
rs1481277277 1705 M>K No gnomAD
rs769268117 1706 A>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1251252157 1706 A>T No gnomAD
rs2072519745
COSM75519
1708 Q>E ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs2072519717 1709 E>Q No TOPMed
rs2072519670 1710 L>F No Ensembl
rs2072519643 1711 L>P No TOPMed
rs1314048277 1712 D>N No gnomAD
rs761168807 1713 A>G No ExAC
gnomAD
COSM1470909 1713 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs761168807 1713 A>V No ExAC
gnomAD
rs2072519471 1714 S>N No TOPMed
rs775912976 1714 S>R No ExAC
gnomAD
COSM1709833 1715 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1203572825 1715 E>V No TOPMed
gnomAD
COSM4968466
rs201824445
1716 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201824445 1716 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746179757 1716 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
rs2072519236 1717 V>G No TOPMed
rs2072519285 1717 V>M No gnomAD
rs777509802 1718 Q>* No ExAC
gnomAD
rs2072519138 1719 L>F No TOPMed
rs769299218 1719 L>P No ExAC
rs535532477 1720 L>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs2072519030 1721 H>D No Ensembl
rs1037000677 1722 T>I No TOPMed
gnomAD
rs1037000677 1722 T>S No TOPMed
gnomAD
rs2072518883 1723 Q>R No gnomAD
rs1014671185 1724 N>D No TOPMed
gnomAD
rs1014671185 1724 N>H No TOPMed
gnomAD
rs768304822 1725 T>I No ExAC
gnomAD
rs746477254 1726 S>C No ExAC
gnomAD
rs1258845149 1726 S>N No gnomAD
TCGA novel 1727 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs780182993 1729 N>S No ExAC
gnomAD
TCGA novel 1733 K>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072499634 1733 K>T No TOPMed
COSM2924865 1739 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1350185520 1739 S>P No TOPMed
gnomAD
rs1350185520 1739 S>T No TOPMed
gnomAD
rs758388587 1741 I>V No ExAC
gnomAD
COSM3513712 1742 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1234887649 1743 G>R No TOPMed
gnomAD
COSM1709832 1745 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs745717870 1745 M>V No ExAC
TOPMed
gnomAD
rs1292600831 1746 E>Q No gnomAD
rs2072499433 1747 D>G No Ensembl
rs778571195 1747 D>N No ExAC
TOPMed
gnomAD
rs2072499401 1748 I>V No gnomAD
rs144889690 1749 V>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144889690 1749 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144889690 1749 V>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM705160
rs2072499253
1750 Q>H lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
gnomAD
rs1222602512 1751 E>G No gnomAD
COSM3889226 1751 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs764324287 1752 A>D No ExAC
TOPMed
gnomAD
rs764324287 1752 A>V No ExAC
TOPMed
gnomAD
rs554011504 1753 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs187295127
COSM1216224
1753 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs187295127 1753 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1493786 1756 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2072499024 1756 E>V No TOPMed
rs879153244 1757 E>D No TOPMed
COSM975232
rs1418977431
1759 A>G Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
COSM3513711 1760 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM975231 1760 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs760021950 1764 T>I No ExAC
TOPMed
gnomAD
rs960560117 1767 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1422252304 1767 A>V No gnomAD
rs866491133 1768 M>I No Ensembl
rs756303222 1768 M>R No ExAC
TOPMed
gnomAD
rs756303222 1768 M>T No ExAC
TOPMed
gnomAD
rs2072497711 1768 M>V No Ensembl
rs752831590 1769 M>R No ExAC
gnomAD
rs752831590 1769 M>T No ExAC
gnomAD
rs2072497573 1770 A>T No Ensembl
rs1278247190 1772 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1195789404 1773 L>P No gnomAD
rs767578206 1774 K>Q No ExAC
TOPMed
gnomAD
rs752019463 1777 Q>E No ExAC
TOPMed
gnomAD
rs752019463 1777 Q>K No ExAC
TOPMed
gnomAD
rs766870001 1778 D>N No ExAC
gnomAD
rs1015196587 1779 T>S No TOPMed
TCGA novel 1780 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs763267052 1781 A>S No ExAC
TOPMed
gnomAD
rs763267052
COSM283026
1781 A>T Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2072497108 1781 A>V No TOPMed
rs2072497080
COSM705162
1782 H>Y lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs146221622 1785 R>L No ESP
ExAC
TOPMed
gnomAD
rs146221622 1785 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1234619394 1785 R>W No TOPMed
gnomAD
rs375718466 1786 M>T No ESP
TOPMed
gnomAD
rs1597413472 1789 N>D No Ensembl
rs760403113 1790 M>K No ExAC
gnomAD
rs760403113 1790 M>T No ExAC
gnomAD
rs1444167278 1790 M>V No TOPMed
gnomAD
rs775219097 1791 E>Q No ExAC
gnomAD
rs2072496515 1794 V>E No TOPMed
rs759041439 1794 V>M No ExAC
TOPMed
gnomAD
rs2072496431 1795 K>N No gnomAD
rs75173310 1795 K>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs75173310
RCV000898761
1795 K>T No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1454917061 1796 D>N No gnomAD
TCGA novel 1796 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1394719435 1797 L>M No TOPMed
gnomAD
rs1191914036 1797 L>R No gnomAD
rs1394719435 1797 L>V No TOPMed
gnomAD
rs749083591 1799 L>F No ExAC
TOPMed
gnomAD
rs770067160
COSM2924858
1800 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs139900511
COSM975229
1800 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2277649 1802 D>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_030202
rs2277649
RCV001608700
1802 D>G No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1646702673 1802 D>H No TOPMed
rs2277649 1802 D>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751627870 1803 E>G No ExAC
TOPMed
gnomAD
rs1346442868
COSM349271
1803 E>K lung [Cosmic] No cosmic curated
TOPMed
gnomAD
rs2072495780 1804 A>T No Ensembl
rs780476111 1804 A>V No ExAC
TOPMed
gnomAD
rs2072495693 1805 E>A No TOPMed
COSM3513709 1805 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1280476018 1806 Q>K No gnomAD
rs200732393 1808 A>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200732393 1808 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1480463853 1809 L>M No gnomAD
rs762214845 1809 L>P No ExAC
TOPMed
gnomAD
rs2072495292 1810 K>E No TOPMed
rs1463556470 1811 G>S No TOPMed
gnomAD
COSM3513708 1816 I>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs759003357 1817 Q>* No ExAC
gnomAD
rs773887491 1821 A>T No ExAC
gnomAD
rs370263974 1822 R>G No ESP
ExAC
TOPMed
gnomAD
rs773065772 1822 R>S No ExAC
gnomAD
rs1567697453 1822 R>T No Ensembl
rs1187753773 1823 V>A No gnomAD
rs762312209 1824 R>* No ExAC
TOPMed
gnomAD
rs2072493404 1824 R>K No TOPMed
rs1309927142 1825 E>Q No TOPMed
gnomAD
TCGA novel 1827 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs773154000 1827 E>K No ExAC
gnomAD
rs773154000 1827 E>Q No ExAC
gnomAD
rs2072493250 1829 E>K No TOPMed
gnomAD
rs1178036460 1830 V>M No TOPMed
gnomAD
rs267604703 1831 E>K No Ensembl
rs1372203128 1832 S>G No TOPMed
gnomAD
rs1306670937 1832 S>T No TOPMed
gnomAD
rs761645152 1833 E>K No ExAC
TOPMed
gnomAD
rs1597413301 1834 Q>E No Ensembl
COSM6080164 1834 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1234484676 1836 H>L No gnomAD
rs1234484676 1836 H>R No gnomAD
rs776399558 1837 N>S No ExAC
gnomAD
rs1310742022 1838 V>A No gnomAD
rs1216414670 1839 E>K No gnomAD
rs1401496099 1842 K>E No TOPMed
gnomAD
rs893951001 1843 G>D No Ensembl
COSM3513706 1843 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs61521510 1845 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs185824725 1845 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs935396215 1846 K>Q No Ensembl
rs1360954782 1847 H>R No TOPMed
gnomAD
TCGA novel
rs1319386839
1848 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No TOPMed
gnomAD
NCI-TCGA
COSM4398799 1848 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1567697370 1848 E>Q No gnomAD
rs2072492458 1849 R>K No TOPMed
TCGA novel 1850 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2072492422 1850 R>T No TOPMed
gnomAD
rs2072492360 1851 V>A No TOPMed
rs2072492390 1851 V>L No Ensembl
rs2072492328 1852 K>Q No gnomAD
rs2072492303 1852 K>T No TOPMed
TCGA novel 1853 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3513705 1853 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772220551 1854 L>P No ExAC
gnomAD
rs2072492154 1856 Y>* No Ensembl
rs1340510443 1857 Q>* No TOPMed
gnomAD
rs1340510443 1857 Q>E No TOPMed
gnomAD
rs973277465 1859 E>K No Ensembl
rs760340692 1859 E>V No ExAC
gnomAD
rs1299839445 1860 E>* No gnomAD
rs775815764 1860 E>D No ExAC
gnomAD
rs1173535774 1861 D>N No TOPMed
rs34260986
VAR_056175
COSM269664
1862 R>C large_intestine [Cosmic] No cosmic curated
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs538270849 1862 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs538270849 1862 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs34260986 1862 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2072490809 1865 I>V No TOPMed
gnomAD
COSM139048
rs567649730
1866 L>F lung skin [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1398730327 1867 R>K No TOPMed
gnomAD
rs1192544779 1869 Q>* No gnomAD
rs778082635 1869 Q>H No ExAC
TOPMed
gnomAD
rs1265643979 1870 D>E No gnomAD
TCGA novel 1871 L>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1283369286 1872 V>L No TOPMed
gnomAD
rs1283369286 1872 V>M No TOPMed
gnomAD
rs138375236 1873 D>G No ESP
rs1481226600 1874 K>E No gnomAD
rs2072490410 1875 L>S No Ensembl
rs752626141 1876 Q>* No ExAC
TOPMed
gnomAD
TCGA novel 1876 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1350064593 1877 T>A No gnomAD
rs779806757 1877 T>I No ExAC
TOPMed
gnomAD
rs1597413139 1878 K>E No Ensembl
rs1567697238 1881 A>D No Ensembl
rs1233781652 1881 A>T No TOPMed
gnomAD
rs2072490106 1882 Y>H No gnomAD
rs2072490074 1882 Y>S No TOPMed
gnomAD
rs1391963523 1883 K>E No gnomAD
rs2142207033 1883 K>R No Ensembl
rs750003926 1884 R>G No ExAC
gnomAD
rs764733561 1885 Q>* No ExAC
gnomAD
rs2072489956 1888 E>K No TOPMed
gnomAD
rs147055554 1889 A>V No ESP
TOPMed
gnomAD
COSM6145640 1890 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770169869 1890 E>K No ExAC
gnomAD
rs878940178 1891 E>* No Ensembl
rs748603493 1893 S>T No ExAC
TOPMed
gnomAD
rs2072479448 1893 S>Y No TOPMed
gnomAD
rs781406872 1894 N>D No ExAC
gnomAD
rs1026248729 1894 N>I No TOPMed
gnomAD
rs563076885 1894 N>K No 1000Genomes
ExAC
gnomAD
rs1026248729 1894 N>S No TOPMed
gnomAD
rs1303482689 1895 V>A No TOPMed
gnomAD
rs199767036 1896 N>K No Ensembl
COSM705163 1896 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1897 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs997400770 1898 A>D No TOPMed
rs997400770 1898 A>G No TOPMed
rs745534450 1898 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
gnomAD
COSM71743
rs1476455445
1899 K>N ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
TOPMed
gnomAD
NCI-TCGA Cosmic
NCI-TCGA
rs141666536 1901 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM180568
rs201770076
1901 R>H large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs201770076 1901 R>L No ExAC
TOPMed
gnomAD
rs201770076 1901 R>P No ExAC
TOPMed
gnomAD
rs2142205834 1903 L>I No Ensembl
COSM398725 1903 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs777818940 1904 Q>* No ExAC
TOPMed
gnomAD
rs2072478820 1904 Q>H No TOPMed
rs777818940 1904 Q>K No ExAC
TOPMed
gnomAD
rs866353566 1906 E>G No Ensembl
rs138871618 1906 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1054593429 1908 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
TCGA novel 1908 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3513704 1909 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs540648325 1910 A>T No 1000Genomes
gnomAD
rs3744554 1911 K>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs3744554
VAR_024542
1911 K>E No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2142205789 1911 K>N No Ensembl
rs3744554 1911 K>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs151125083 1913 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs141091743 1913 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773152715 1915 D>E No ExAC
gnomAD
rs745984767 1916 I>M No ExAC
TOPMed
gnomAD
rs2072478244 1916 I>V No Ensembl
rs200121757 1919 S>Y No TOPMed
gnomAD
rs371108016 1921 V>F No ESP
TOPMed
gnomAD
rs371108016 1921 V>I No ESP
TOPMed
gnomAD
rs371108016 1921 V>L No ESP
TOPMed
gnomAD
rs1471868347 1922 N>K No TOPMed
gnomAD
rs762232645 1922 N>S No ExAC
gnomAD
rs778567529 1923 K>N No Ensembl
rs777066228 1924 L>M No ExAC
TOPMed
gnomAD
rs2072477784 1925 R>G No TOPMed
rs1449053355 1925 R>K No gnomAD
rs1246034268 1926 V>A No gnomAD
COSM3513703
rs778580924
1929 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
rs538556644 1929 R>W No 1000Genomes
ExAC
TOPMed
gnomAD
rs2072477486 1930 E>* No Ensembl
rs200789249 1934 K>E No 1000Genomes
COSM4063813 1934 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs535914239 1935 V>A No ExAC
TOPMed
gnomAD
rs535914239 1935 V>D No ExAC
TOPMed
gnomAD
rs748883182 1935 V>I No ExAC
TOPMed
gnomAD
rs748883182 1935 V>L No ExAC
TOPMed
gnomAD
rs781224206 1936 I>K No ExAC
TOPMed
gnomAD
rs571163808 1936 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs2072477141 1937 S>N No Ensembl
rs1421864584 1939 E>D No gnomAD
rs1223634911 1940 E>Q No TOPMed
gnomAD

No associated diseases with Q9Y623

3 regional properties for Q9Y623

Type Name Position InterPro Accession
domain Myosin head, motor domain 80 - 783 IPR001609
domain Myosin tail 850 - 1927 IPR002928
domain Myosin, N-terminal, SH3-like 33 - 82 IPR004009

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

6 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
muscle myosin complex A filament of myosin found in a muscle cell of any type.
myofibril The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism.
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.
sarcomere The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs.

6 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.
ATP hydrolysis activity Catalysis of the reaction
calmodulin binding Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
double-stranded RNA binding Binding to double-stranded RNA.
microfilament motor activity A motor activity that generates movement along a microfilament, driven by ATP hydrolysis.

4 GO annotations of biological process

Name Definition
actin filament-based movement Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins.
ATP metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator.
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.
muscle filament sliding The sliding of actin thin filaments and myosin thick filaments past each other in muscle contraction. This involves a process of interaction of myosin located on a thick filament with actin located on a thin filament. During this process ATP is split and forces are generated.

46 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9BE40 MYH1 Myosin-1 Bos taurus (Bovine) SS
Q9BE41 MYH2 Myosin-2 Bos taurus (Bovine) SS
Q27991 MYH10 Myosin-10 Bos taurus (Bovine) SS
Q9BE39 MYH7 Myosin-7 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
P12882 MYH1 Myosin-1 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
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
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
Q5SX39 Myh4 Myosin-4 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
Q9JLT0 Myh10 Myosin-10 Rattus norvegicus (Rat) SS
Q29RW1 Myh4 Myosin-4 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 EKERIEAQNK PFDAKTSVFV VDPKESYVKA IVQSREGGKV
70 80 90 100 110 120
TAKTEAGATV TVKEDQVFSM NPPKYDKIED MAMMTHLHEP AVLYNLKERY AAWMIYTYSG
130 140 150 160 170 180
LFCVTVNPYK WLPVYNPEVV TAYRGKKRQE APPHIFSISD NAYQFMLTDR ENQSILITGE
190 200 210 220 230 240
SGAGKTVNTK RVIQYFATIA VTGEKKKEEP ASGKMQGTLE DQIISANPLL EAFGNAKTVR
250 260 270 280 290 300
NDNSSRFGKF IRIHFGATGK LASADIETYL LEKSRVTFQL KAERSYHIFY QILSNKKPEL
310 320 330 340 350 360
IEMLLITTNP YDFAFVSQGE ITVPSIDDQE ELMATDSAVD ILGFTADEKV AIYKLTGAVM
370 380 390 400 410 420
HYGNMKFKQK QREEQAEPDG TEVADKAAYL TSLNSADLLK SLCYPRVKVG NEFVTKGQTV
430 440 450 460 470 480
QQVYNAVGAL AKAIYEKMFL WMVTRINQQL DTKQPRQYFI GVLDIAGFEI FDFNSLEQLC
490 500 510 520 530 540
INFTNEKLQQ FFNHHMFVLE QEEYKKEGIE WEFIDFGMDL AACIELIEKP MGIFSILEEE
550 560 570 580 590 600
CMFPKATDTS FKNKLYEQHL GKSNNFQKPK PAKGKPEAHF SLVHYAGTVD YNIAGWLDKN
610 620 630 640 650 660
KDPLNETVVG LYQKSAMKTL AFLFSGAQTA EAEGGGGKKG GKKKGSSFQT VSALFRENLN
670 680 690 700 710 720
KLMTNLRSTH PHFVRCIIPN ETKTPGAMEH ELVLHQLRCN GVLEGIRICR KGFPSRILYA
730 740 750 760 770 780
DFKQRYKVLN ASAIPEGQFI DSKKASEKLL GSIEIDHTQY KFGHTKVFFK AGLLGTLEEM
790 800 810 820 830 840
RDEKLAQLIT RTQAICRGFL MRVEFRKMME RRESIFCIQY NIRAFMNVKH WPWMKLYFKI
850 860 870 880 890 900
KPLLKSAETE KEMANMKEEF EKTKEELAKT EAKRKELEEK MVTLMQEKND LQLQVQAEAD
910 920 930 940 950 960
ALADAEERCD QLIKTKIQLE AKIKEVTERA EDEEEINAEL TAKKRKLEDE CSELKKDIDD
970 980 990 1000 1010 1020
LELTLAKVEK EKHATENKVK NLTEEMAGLD ETIAKLTKEK KALQEAHQQT LDDLQMEEDK
1030 1040 1050 1060 1070 1080
VNTLTKAKTK LEQQVDDLEG SLEQEKKLCM DLERAKRKLE GDLKLAQEST MDTENDKQQL
1090 1100 1110 1120 1130 1140
NEKLKKKEFE MSNLQGKIED EQALAIQLQK KIKELQARIE ELEEEIEAER ASRAKAEKQR
1150 1160 1170 1180 1190 1200
SDLSRELEEI SERLEEAGGA TSAQIEMNKK REAEFQKMRR DLEESTLQHE ATAAALRKKH
1210 1220 1230 1240 1250 1260
ADSVAELGEQ IDSLQRVKQK LEKEKSELKM EINDLASNME TVSKAKANFE KMCRTLEDQL
1270 1280 1290 1300 1310 1320
SEIKTKEEEQ QRLINELSAQ KARLHTESGE FSRQLDEKDA MVSQLSRGKQ AFTQQIEELK
1330 1340 1350 1360 1370 1380
RQLEEETKAK STLAHALQSA RHDCDLLREQ YEEEQEAKAE LQRGMSKANS EVAQWRTKYE
1390 1400 1410 1420 1430 1440
TDAIQRTEEL EEAKKKLAQR LQDAEEHVEA VNSKCASLEK TKQRLQNEVE DLMIDVERSN
1450 1460 1470 1480 1490 1500
AACIALDKKQ RNFDKVLAEW KQKYEETQAE LEASQKESRS LSTELFKVKN AYEESLDHLE
1510 1520 1530 1540 1550 1560
TLKRENKNLQ QEISDLTEQI AEGGKHIHEL EKVKKQLDHE KSELQTSLEE AEASLEHEEG
1570 1580 1590 1600 1610 1620
KILRIQLELN QVKSEIDRKI AEKDEELDQL KRNHLRVVES MQSTLDAEIR SRNDALRIKK
1630 1640 1650 1660 1670 1680
KMEGDLNEME IQLNHANRQA AEALRNLRNT QGILKDTQLH LDDAIRGQDD LKEQLAMVER
1690 1700 1710 1720 1730 1740
RANLMQAEVE ELRASLERTE RGRKMAEQEL LDASERVQLL HTQNTSLINT KKKLETDISQ
1750 1760 1770 1780 1790 1800
IQGEMEDIVQ EARNAEEKAK KAITDAAMMA EELKKEQDTS AHLERMKKNM EQTVKDLQLR
1810 1820 1830 1840 1850 1860
LDEAEQLALK GGKKQIQKLE ARVRELESEV ESEQKHNVEA VKGLRKHERR VKELTYQTEE
1870 1880 1890 1900 1910 1920
DRKNILRLQD LVDKLQTKVK AYKRQAEEAE EQSNVNLAKF RKLQHELEEA KERADIAESQ
1930
VNKLRVKSRE VHTKVISEE