Q2VIQ3

SS
Gene name
KIF4B
Protein name
Chromosome-associated kinesin KIF4B
Names
Chromokinesin-B
Species
Homo sapiens (Human)
KEGG Pathway
hsa:285643
EC number
Protein Class

Descriptions

Kinesin-like protein KIF21A is microtubule-binding motor protein involved in neuronal axonal transport. Kif21a adopts an autoinhibited state through the direct interaction of its motor and 3rd coiled-coil stalk domain. Kif21a mutations activate the motor protein, increasing transport activity, which contradicts typical autoinhibition observed in other proteins where mutations usually result in loss of function.

Autoinhibitory domains (AIDs)

872-902 (3rd coiled-coil stalk domain) SS

Target domain

9-336 (Motor domain)

Relief mechanism

Others

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q2VIQ3

Entry ID Method Resolution Chain Position Source
AF-Q2VIQ3-F1 Predicted AlphaFoldDB

1463 variants for Q2VIQ3

Variant ID(s) Position Change Description Diseaes Association Provenance
COSM4826373
COSM4826374
 3 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs773029852 6 K>E No ExAC
TOPMed
gnomAD
rs1324491219 7 G>V No gnomAD
COSM3612924
COSM3612925
 9 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770396715 10 V>G No ExAC
TOPMed
gnomAD
rs1241895696 10 V>I No TOPMed
rs1241895696 10 V>L No TOPMed
rs1765275146 11 R>S No Ensembl
rs773879441 12 V>L No ExAC
gnomAD
rs1211847530 13 A>V No gnomAD
rs760025885 15 R>C No ExAC
TOPMed
gnomAD
COSM4168858
COSM4168857
rs200942753
 15 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2113052552 16 C>F No Ensembl
COSM3373760
COSM3373759
 17 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM256137
rs775915028
COSM256138
 17 R>H Variant assessed as Somatic; MODERATE impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761027823 18 P>L No ExAC
TOPMed
gnomAD
rs2113052592 20 V>A No Ensembl
rs1765275786 20 V>F No Ensembl
rs1765275786 20 V>I No Ensembl
rs2113052600 21 P>R No Ensembl
TCGA novel 22 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs886261481 22 K>R No TOPMed
gnomAD
TCGA novel 23 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1157985756 23 E>G No gnomAD
rs754060267 23 E>K No ExAC
gnomAD
rs371073527 24 I>V No ESP
ExAC
TOPMed
gnomAD
rs1161942042 25 S>R No TOPMed
gnomAD
rs1390704156 26 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1765276275 27 G>C No TOPMed
gnomAD
rs750505181 29 Q>H No ExAC
TOPMed
gnomAD
rs1392317835 29 Q>R No TOPMed
gnomAD
rs758494976 31 C>S No ExAC
TOPMed
gnomAD
rs1434889477 31 C>S No Ensembl
COSM3612927
COSM3612926
 33 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1218422582 34 F>C No TOPMed
gnomAD
rs781281000 35 V>L No ExAC
TOPMed
gnomAD
COSM4808257
rs781281000
COSM4808258
 35 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1454233772 36 P>T No TOPMed
gnomAD
rs777601786 37 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
NCI-TCGA
rs777601786 37 G>W No ExAC
TOPMed
gnomAD
rs1765277265 38 E>* No TOPMed
COSM3612928
COSM3612929
 38 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1191567163 40 Q>* No TOPMed
gnomAD
rs770610199 41 V>A No ExAC
gnomAD
rs748931477 41 V>L No ExAC
gnomAD
rs1355642910 42 V>A No gnomAD
rs1355642910 42 V>G No gnomAD
rs572362267 44 G>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs572362267 44 G>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1209431136 45 T>A No TOPMed
rs1274794210 45 T>I No TOPMed
gnomAD
rs1561755285 46 D>H No Ensembl
rs1293986818 47 K>R No TOPMed
gnomAD
COSM3245835
COSM3245834
rs1481965337
 48 S>F kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1248103317 48 S>P No TOPMed
gnomAD
COSM3410037
COSM3410038
 49 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1765278013 51 Y>C No Ensembl
rs541398809
COSM3919429
COSM3919430
 52 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs185994098 52 D>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs541398809 52 D>Y No 1000Genomes
ExAC
gnomAD
rs1765278255 53 F>L No TOPMed
gnomAD
rs1184850256 54 V>L No gnomAD
rs1765278398 56 D>H No gnomAD
rs1462883784 57 P>A No gnomAD
rs970340606 57 P>H No TOPMed
gnomAD
rs367763438 58 C>R No ESP
ExAC
TOPMed
gnomAD
rs769052900 58 C>Y No ExAC
TOPMed
gnomAD
rs762001699 60 E>K No ExAC
TOPMed
gnomAD
rs765512585 62 E>K No ExAC
gnomAD
rs763158371 64 V>F No ExAC
gnomAD
rs763158371 64 V>I No ExAC
gnomAD
rs1765278998 66 N>H No TOPMed
rs1765279144 68 A>V No Ensembl
rs1363182158 70 A>P No Ensembl
TCGA novel 70 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1064811
rs2113052951
COSM1064810
 70 A>V Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs752730303
COSM482404
COSM482403
 71 P>L kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs752730303 71 P>Q No ExAC
gnomAD
rs1424733954 72 L>F No TOPMed
gnomAD
rs756086932 72 L>P No ExAC
gnomAD
rs1765279431 73 I>T No Ensembl
rs777495179 74 K>* No ExAC
gnomAD
rs756941906 75 G>A No ExAC
TOPMed
gnomAD
rs756941906 75 G>D No ExAC
TOPMed
gnomAD
rs753652868 75 G>S No ExAC
TOPMed
gnomAD
rs756941906 75 G>V No ExAC
TOPMed
gnomAD
rs374071565 76 I>T No ESP
ExAC
TOPMed
gnomAD
rs2113053017 76 I>V No Ensembl
rs1388915841 78 K>E No gnomAD
rs771623017 78 K>R No ExAC
TOPMed
gnomAD
rs771623017 78 K>T No ExAC
TOPMed
gnomAD
rs779511280 79 G>E No ExAC
gnomAD
rs1765280091 80 Y>* No TOPMed
rs769194740 80 Y>C No ExAC
TOPMed
rs56366205 81 N>D No ExAC
gnomAD
rs1302513546 81 N>S No gnomAD
rs577708925 83 T>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs577708925 83 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199985535 86 A>D No 1000Genomes
TOPMed
gnomAD
rs1765280597 86 A>P No TOPMed
rs1765280597 86 A>S No TOPMed
COSM3853055
COSM3853056
 86 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1765280679 87 Y>F No Ensembl
rs1765280788 88 G>R No TOPMed
gnomAD
rs1212706431 89 Q>* No TOPMed
TCGA novel 89 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1349799995 90 T>I No gnomAD
rs1255083345 91 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1246724132 93 G>* No gnomAD
TCGA novel 93 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1765281304 94 K>* No TOPMed
rs987558853 95 T>A No TOPMed
gnomAD
rs766606700 96 Y>C No ExAC
TOPMed
gnomAD
rs1431836613 97 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
gnomAD
TCGA novel 98 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 99 G>E Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 100 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 100 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1582711842 100 G>V No Ensembl
TCGA novel 101 A>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1175584940 101 A>T No gnomAD
rs760750980 102 Y>* No ExAC
TOPMed
gnomAD
rs2113053217 102 Y>C No Ensembl
rs764102616 103 T>S No ExAC
gnomAD
rs1388000351 104 A>V No TOPMed
gnomAD
rs753649714 105 E>D No ExAC
gnomAD
rs1405077035 106 Q>* No TOPMed
rs372047983 107 E>* No ESP
TOPMed
gnomAD
rs372047983 107 E>Q No ESP
TOPMed
gnomAD
rs1765282389 108 N>K No Ensembl
rs375845717 110 P>L No ESP
ExAC
TOPMed
gnomAD
rs375845717 110 P>Q No ESP
ExAC
TOPMed
gnomAD
rs375845717 110 P>R No ESP
ExAC
TOPMed
gnomAD
rs912153040 110 P>T No TOPMed
gnomAD
rs192370456 112 V>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs137888317 112 V>F No 1000Genomes
ExAC
gnomAD
rs137888317 112 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
gnomAD
rs2113053300 113 G>C No Ensembl
rs748555160 113 G>D No ExAC
TOPMed
gnomAD
rs748555160 113 G>V No ExAC
TOPMed
gnomAD
rs1214824752 114 I>V No TOPMed
gnomAD
rs1255492464 115 I>V No gnomAD
rs1487694695 116 P>H No gnomAD
rs372324512 117 R>G No ESP
ExAC
TOPMed
gnomAD
rs1765283029 117 R>S No TOPMed
rs749588815 118 V>A No ExAC
gnomAD
rs773679991 118 V>I No ExAC
gnomAD
rs1561755454 119 I>T No gnomAD
rs375778576 120 Q>* No ESP
ExAC
TOPMed
gnomAD
COSM3853057
COSM3853058
 121 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774655310 122 L>F No ExAC
gnomAD
rs774655310 122 L>I No ExAC
gnomAD
rs759689624 123 F>S No ExAC
TOPMed
gnomAD
rs2113053384 124 K>Q No Ensembl
COSM3697088
COSM3697089
 125 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1434026212 125 E>D No TOPMed
gnomAD
COSM282248
COSM282249
 125 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs369076676 126 I>T No ESP
ExAC
TOPMed
gnomAD
rs1373804492 128 K>E No gnomAD
rs372617497 129 K>E No ESP
ExAC
TOPMed
gnomAD
COSM449174
COSM449175
 130 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1064813
COSM1064812
 131 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs761629486 133 E>G No ExAC
TOPMed
gnomAD
rs868127052 133 E>K No Ensembl
rs1349308241 135 T>I No TOPMed
gnomAD
TCGA novel 136 L>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs765150974 137 K>* No ExAC
TOPMed
gnomAD
rs765150974 137 K>E No ExAC
TOPMed
gnomAD
rs750208739 137 K>I No ExAC
gnomAD
rs1373256936 138 V>L No TOPMed
gnomAD
rs1765284505 140 Y>F No Ensembl
rs1765284505 140 Y>S No Ensembl
rs1445001756 142 E>D No TOPMed
rs1765284652 143 I>F No TOPMed
rs1336943421 143 I>T No TOPMed
gnomAD
rs1252190575 145 N>S No TOPMed
gnomAD
rs754539496 148 I>N No ExAC
TOPMed
gnomAD
rs748729788 150 D>E No ExAC
gnomAD
rs1475569125 150 D>V No TOPMed
gnomAD
COSM1064814
COSM1064815
 151 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756574437 151 L>P No ExAC
TOPMed
gnomAD
rs778337597 152 L>P No ExAC
rs373667918 153 C>R No ESP
TOPMed
gnomAD
rs373667918 153 C>S No ESP
TOPMed
gnomAD
rs1403480670 154 P>L No TOPMed
gnomAD
rs2113053559 155 S>C No Ensembl
TCGA novel 155 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs771352510 156 R>C No ExAC
TOPMed
gnomAD
COSM1435465
rs774743075
COSM1435466
 156 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM737112
COSM737113
 156 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1014100318 157 E>K No TOPMed
gnomAD
rs570601300 159 A>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs772239185 159 A>V No ExAC
gnomAD
rs1765285977 163 I>T No TOPMed
rs200058266 164 R>W No 1000Genomes
ExAC
TOPMed
gnomAD
rs1045556934 165 E>G No TOPMed
COSM4896817
COSM4896818
 166 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1228201467 166 D>Y No gnomAD
COSM4898513
COSM4898512
 167 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1182876245 169 E>D No TOPMed
gnomAD
rs1233434641
COSM3612933
COSM3612932
 169 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs1468371466 169 E>V No gnomAD
rs1296957346 170 G>V No TOPMed
gnomAD
rs773069983 171 I>T No ExAC
gnomAD
rs1344718295 171 I>V No gnomAD
rs905794588 172 K>N No TOPMed
gnomAD
rs1274186499 173 I>M No gnomAD
rs200470683 173 I>V No 1000Genomes
TOPMed
gnomAD
rs762768926 177 T>I No ExAC
gnomAD
rs1235761744 178 E>G No gnomAD
rs766115792 178 E>K No ExAC
TOPMed
gnomAD
rs751262876 179 K>N No ExAC
TOPMed
gnomAD
COSM1064816
COSM1064817
 179 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs754556909 180 T>P No ExAC
gnomAD
rs754556909 180 T>S No ExAC
gnomAD
rs1561755566 181 V>I No TOPMed
gnomAD
rs1765287406 183 V>F No Ensembl
rs372621246 184 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs755591558 184 A>V No ExAC
gnomAD
rs1350743233 185 L>F No TOPMed
rs1369719097 185 L>W No TOPMed
gnomAD
rs1434885713 186 D>G No TOPMed
gnomAD
rs1765287708 188 V>A No TOPMed
COSM4404593
COSM4404594
 189 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 190 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs778427433 190 C>S No ExAC
TOPMed
gnomAD
rs778427433 190 C>Y No ExAC
TOPMed
gnomAD
rs1765287826 192 E>G No Ensembl
rs1446702250 194 G>D No gnomAD
rs1212355032 195 N>K No TOPMed
gnomAD
rs754354856 195 N>S No ExAC
TOPMed
gnomAD
rs1368053375 196 N>D No TOPMed
gnomAD
rs1765288198 198 R>G No TOPMed
gnomAD
rs779394229 198 R>K No ExAC
gnomAD
rs1765288445 200 V>E No Ensembl
rs188974157 200 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 201 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1765288497 201 A>V No gnomAD
rs1441899352 202 S>F No TOPMed
gnomAD
rs1441899352 202 S>Y No TOPMed
gnomAD
rs780267858 203 T>A No ExAC
TOPMed
gnomAD
TCGA novel 203 T>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs557741244 205 M>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs557741244 205 M>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1466144069 205 M>V No gnomAD
rs778788416 206 N>D No Ensembl
TCGA novel
rs1765288943
 206 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
COSM3919431
COSM3919432
 207 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs958270524 207 S>Y No TOPMed
rs762854775 209 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1161524232 209 S>P No TOPMed
gnomAD
rs369578373 211 R>* No ESP
TOPMed
gnomAD
rs369578373 211 R>G No ESP
TOPMed
gnomAD
rs774011750 211 R>L No ExAC
TOPMed
gnomAD
COSM3919433
COSM3919434
rs774011750
 211 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3373763
rs1020996527
COSM3373764
 213 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs987610329 214 A>T No TOPMed
gnomAD
rs200325069 215 I>V No 1000Genomes
TOPMed
gnomAD
TCGA novel 216 F>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1765289611 216 F>L No Ensembl
rs759291184 217 T>I No ExAC
gnomAD
rs1765289644 217 T>S No Ensembl
rs1447110860 218 I>V No TOPMed
rs373997421 219 S>F No ESP
ExAC
rs1561755659 220 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs117318692 220 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1439115773 222 Q>E No gnomAD
COSM6102694
COSM6102695
 222 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3612935
COSM3612934
rs1554107070
 223 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs1554107070 223 R>T No Ensembl
rs2113054011 225 K>E No 1000Genomes
rs757803525 227 D>E No ExAC
TOPMed
gnomAD
rs754441049 227 D>G No ExAC
gnomAD
rs1344656041 227 D>N No gnomAD
rs1362300830 230 C>G No TOPMed
gnomAD
rs1362300830 230 C>S No TOPMed
gnomAD
rs1327195599 231 S>R No gnomAD
rs965016042 232 F>I No TOPMed
gnomAD
rs779481145 233 R>C No ExAC
TOPMed
gnomAD
rs779481145 233 R>G No ExAC
TOPMed
gnomAD
rs758725223
COSM86832
 233 R>H ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs975389220 234 S>F No TOPMed
rs1765290844 234 S>P No TOPMed
COSM1486523
COSM1486522
 234 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1765290932 235 K>R No Ensembl
rs1765291000 237 H>L No Ensembl
rs780174289 237 H>Y No ExAC
gnomAD
rs1460770168 238 L>R No gnomAD
rs1765291031 238 L>V No Ensembl
rs201483012 239 V>A No ESP
ExAC
TOPMed
gnomAD
rs747207581 239 V>I No ExAC
gnomAD
rs1765291184 241 L>F No TOPMed
rs770841855 242 A>G No ExAC
gnomAD
rs749291542 242 A>T No ExAC
TOPMed
gnomAD
rs770841855 242 A>V No ExAC
gnomAD
rs1561755717 243 G>R No Ensembl
rs1301296615 243 G>V No TOPMed
gnomAD
rs878993848 244 S>T No Ensembl
rs1334136488 245 E>* No gnomAD
rs1444633129 245 E>V No gnomAD
rs1387079269 246 R>K No TOPMed
rs1395922620 248 K>T No gnomAD
TCGA novel 250 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4919751
COSM4919750
 250 T>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 251 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs771858981 251 K>E No ExAC
rs190973449 252 A>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs190973449 252 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3612941
COSM3612940
 253 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs760378928 254 G>A No ExAC
gnomAD
rs760378928 254 G>E No ExAC
gnomAD
rs1417079505 254 G>R No TOPMed
rs559843032 255 D>Y No 1000Genomes
ExAC
TOPMed
gnomAD
rs2113054234 256 R>C No Ensembl
rs753391654
COSM1435467
COSM1435468
 256 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753391654 256 R>L No ExAC
TOPMed
gnomAD
rs753391654 256 R>P No ExAC
TOPMed
gnomAD
rs949755179 257 L>P No TOPMed
gnomAD
rs1765292398 260 G>C No TOPMed
gnomAD
rs1765292398 260 G>S No TOPMed
gnomAD
rs1765292450 261 I>N No TOPMed
rs761354039 262 N>S No ExAC
gnomAD
rs202131557 265 R>* No ExAC
gnomAD
rs758713344 265 R>L No ExAC
TOPMed
gnomAD
rs758713344 265 R>Q No ExAC
TOPMed
gnomAD
rs1641153325 266 G>D No TOPMed
gnomAD
rs1287408596 266 G>S No gnomAD
rs751771527 269 C>G No ExAC
gnomAD
rs1306146324 269 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs755190949 270 L>F No ExAC
TOPMed
gnomAD
rs781306202 271 G>R No ExAC
gnomAD
rs748238103 272 N>S No ExAC
TOPMed
gnomAD
rs770035232 274 I>M No Ensembl
rs1738290188 275 S>N No TOPMed
rs745766137 276 A>S No ExAC
gnomAD
rs771807427 277 L>F No ExAC
rs746722363 279 D>E No ExAC
TOPMed
gnomAD
rs768439739 282 K>R No ExAC
TOPMed
gnomAD
COSM86833 283 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1342365485 283 G>D No gnomAD
rs776357996 283 G>S No ExAC
TOPMed
gnomAD
rs1172184347 284 S>N No TOPMed
TCGA novel 284 S>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1246847455 285 F>I No gnomAD
rs1765293656 285 F>S No TOPMed
TCGA novel 285 F>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1428223353 289 R>K No TOPMed
gnomAD
COSM6169874
COSM6169875
 290 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1765293833 293 L>F No TOPMed
rs1276324168 294 T>S No gnomAD
rs773641768 295 R>* No ExAC
TOPMed
gnomAD
TCGA novel 295 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs763486100 295 R>Q No ExAC
TOPMed
gnomAD
COSM3853061
COSM3853062
 297 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1435469
COSM1435470
 298 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs766722363 299 D>G No ExAC
gnomAD
rs1443675806 299 D>N No gnomAD
COSM3612943
COSM3612942
 302 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1765294225 302 G>V No TOPMed
rs767729424 303 G>D No ExAC
TOPMed
gnomAD
rs767729424 303 G>V No ExAC
TOPMed
gnomAD
rs1249200951 304 N>D No gnomAD
rs1582712334 304 N>T No Ensembl
rs752876669 305 S>G No ExAC
TOPMed
gnomAD
COSM3853063
COSM3853064
 305 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756169700 306 H>R No ExAC
gnomAD
rs777883940 307 T>A No ExAC
TOPMed
gnomAD
rs745828994 307 T>I No ExAC
gnomAD
rs777883940 307 T>P No ExAC
TOPMed
gnomAD
rs1765294788 308 L>R No TOPMed
rs1404402269 308 L>V No TOPMed
gnomAD
rs867152168 309 M>I No gnomAD
rs779768508 309 M>T No ExAC
gnomAD
rs758349904 309 M>V No ExAC
TOPMed
gnomAD
rs199582279 310 I>V No ESP
ExAC
TOPMed
gnomAD
rs749835417 311 A>D No TOPMed
gnomAD
rs749835417 311 A>G No TOPMed
gnomAD
rs768533430 312 C>G No ExAC
TOPMed
gnomAD
rs768533430 312 C>R No ExAC
TOPMed
gnomAD
rs1252136776 312 C>W No TOPMed
gnomAD
COSM1435471
COSM1435472
 313 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1227165259 313 V>L No gnomAD
rs555921814 314 S>G No Ensembl
rs776449709 314 S>N No ExAC
TOPMed
gnomAD
rs867924089 315 P>L No Ensembl
rs1765295551 315 P>T No gnomAD
rs187047062 317 D>V No 1000Genomes
ExAC
gnomAD
rs369057714 319 N>I No ESP
ExAC
TOPMed
gnomAD
rs369057714 319 N>S No ESP
ExAC
TOPMed
gnomAD
rs772776291 320 L>I No ExAC
gnomAD
TCGA novel 321 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3612944
COSM3612945
 321 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763429485 321 E>Q No ExAC
rs1474734505 322 E>D No TOPMed
gnomAD
COSM6169872
COSM6169873
 323 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs369676496 326 T>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369676496 326 T>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1465980463 327 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs373858020 328 R>C No ESP
ExAC
TOPMed
gnomAD
rs1028325801 328 R>H No TOPMed
gnomAD
rs767819645 329 Y>H No ExAC
TOPMed
gnomAD
rs1458351020 330 A>G No TOPMed
gnomAD
rs952241584 332 R>G No TOPMed
gnomAD
rs752962541 332 R>K No ExAC
gnomAD
rs760916696 333 A>T No ExAC
gnomAD
rs1157813528 334 R>G No TOPMed
rs1435669948 335 K>E No gnomAD
rs1416780702 335 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1253346994 336 I>L No TOPMed
rs764144799 336 I>T No ExAC
TOPMed
gnomAD
rs769103532 337 K>R No Ensembl
rs1461173358 339 K>E No TOPMed
gnomAD
rs1381491041 339 K>I No gnomAD
rs780174882 340 P>H No ExAC
gnomAD
rs532928887 340 P>S No 1000Genomes
ExAC
gnomAD
rs1254846635 341 I>V No gnomAD
TCGA novel 342 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM6102691
COSM590788
rs781104821
COSM6102690
COSM590789
 342 V>L lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1765297161 343 N>D No TOPMed
rs1765297194 343 N>T No TOPMed
rs1765297230 344 I>T No gnomAD
rs377049050 345 D>G No ESP
ExAC
TOPMed
gnomAD
rs377049050 345 D>V No ESP
ExAC
TOPMed
gnomAD
COSM1719308
COSM1719307
rs1582712443
 346 P>L NS [Cosmic] No cosmic curated
Ensembl
rs1765297406 348 T>A No TOPMed
rs769476664 348 T>R No ExAC
gnomAD
rs1253460115 349 A>T No Ensembl
rs1464717313 350 E>K No gnomAD
rs1394407526 353 H>Y No gnomAD
rs1765297640 354 L>R No gnomAD
rs770305061 357 Q>H No ExAC
TOPMed
gnomAD
rs748834258 357 Q>L No ExAC
TOPMed
gnomAD
rs748834258 357 Q>P No ExAC
TOPMed
gnomAD
rs748834258 357 Q>R No ExAC
TOPMed
gnomAD
rs1765297992 358 V>I No Ensembl
rs1765298046 359 Q>R No TOPMed
rs1458925916 360 Q>H No gnomAD
rs1309098762 362 Q>* No TOPMed
rs1765298262 363 V>A No TOPMed
rs1561755945 363 V>L No Ensembl
rs1334368578 366 L>R No TOPMed
rs1765298485 367 Q>H No TOPMed
rs775823410 367 Q>R No ExAC
TOPMed
gnomAD
TCGA novel 368 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3612947
COSM3612946
rs760862480
 369 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1293830664 370 G>A No gnomAD
rs372387001 371 G>C No ESP
TOPMed
gnomAD
rs372387001
COSM3612948
COSM3612949
 371 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
NCI-TCGA
TOPMed
gnomAD
rs1765298702 371 G>V No gnomAD
rs753969964 372 T>I No ExAC
TOPMed
gnomAD
rs753969964 372 T>N No ExAC
TOPMed
gnomAD
rs1157613286 374 P>L No TOPMed
gnomAD
rs200454857 375 G>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs200454857 375 G>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs1451049006 375 G>R No TOPMed
gnomAD
rs200454857 375 G>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs751588085 376 S>C No ExAC
TOPMed
gnomAD
rs1159812606 376 S>P No TOPMed
gnomAD
rs1765299063 378 N>S No Ensembl
rs1222961130 379 A>G No gnomAD
rs754961359 379 A>T No ExAC
gnomAD
rs1487729753 381 P>R No TOPMed
gnomAD
rs1267551631 381 P>S No gnomAD
rs1267551631 381 P>T No gnomAD
COSM1064820
COSM1064821
 383 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs368419766 384 N>K No ESP
ExAC
TOPMed
gnomAD
rs565698502
COSM3612950
COSM3612951
 387 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs565698502 387 S>Y No 1000Genomes
ExAC
TOPMed
gnomAD
COSM1064822
COSM1064823
 388 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 388 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1582712559 388 L>V No TOPMed
rs1286751595 389 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs770476212 389 M>L No ExAC
gnomAD
rs1165426464 389 M>R No gnomAD
TCGA novel 391 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1054259418 391 K>R No TOPMed
gnomAD
rs374727177 392 N>T No ESP
ExAC
TOPMed
gnomAD
rs1302130754 393 Q>* No TOPMed
gnomAD
rs1370856200 394 S>F No TOPMed
gnomAD
rs1561756034 394 S>T No Ensembl
rs1370856200
COSM1255863
COSM1255864
 394 S>Y oesophagus [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1765300038 395 L>P No Ensembl
rs1765300112 396 V>I No TOPMed
rs772551898 398 E>G No ExAC
gnomAD
rs367767235 398 E>K No ESP
ExAC
TOPMed
gnomAD
rs775915171 399 N>K No ExAC
gnomAD
rs1765300253 400 E>A No Ensembl
COSM3612955
COSM3612954
 400 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1765300281 401 K>R No TOPMed
rs201607498 402 L>F No ESP
ExAC
TOPMed
gnomAD
rs1765300403
COSM3612957
COSM3612956
 403 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
COSM272248
COSM272249
rs534609073
 404 R>C large_intestine [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1298202014 404 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
COSM1064824
COSM1064825
 404 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1484121829 405 C>F No gnomAD
TCGA novel 407 S>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1019445788 407 S>R No TOPMed
gnomAD
rs2113055240 408 K>E No Ensembl
COSM1435473
COSM1435474
 409 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs867375438 410 A>V No Ensembl
rs1765300775 413 T>I No Ensembl
rs761913743 414 A>V No ExAC
gnomAD
rs1765300879 415 Q>* No Ensembl
TCGA novel
rs1473347237
 416 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1765300943 416 M>K No Ensembl
rs773412492 416 M>V No ExAC
TOPMed
gnomAD
rs1415944133 418 E>G No TOPMed
gnomAD
rs1182353172 418 E>K No gnomAD
COSM1542579
COSM1542580
 419 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM482408
COSM482407
 419 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM737109
rs369740095
COSM737108
 419 R>S lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
ESP
ExAC
NCI-TCGA Cosmic
rs752536295 420 I>L No ExAC
gnomAD
rs1765301211 420 I>N No Ensembl
rs1390571720 422 L>F No TOPMed
gnomAD
rs1765301564 423 T>P No gnomAD
rs1424237824 423 T>R No gnomAD
rs1765301650 424 E>Q No Ensembl
rs1431197530 425 Q>K No gnomAD
rs755958059 426 V>M No ExAC
gnomAD
rs2113055354 427 N>K No Ensembl
rs763774056 429 K>N No ExAC
gnomAD
rs1765301784 429 K>T No TOPMed
COSM1435476
COSM1435475
 430 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM6169870
COSM6169871
 431 N>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs557606097 431 N>K No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3853068
COSM3853067
rs778448313
 432 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1765301919 432 A>V No TOPMed
rs757833636 435 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs757833636 435 E>K No ExAC
TOPMed
gnomAD
rs1298723781 436 E>G No gnomAD
rs199788491 437 L>F No ESP
ExAC
TOPMed
gnomAD
rs199788491 437 L>I No ESP
ExAC
TOPMed
gnomAD
rs1765302480 438 R>K No Ensembl
rs1356818888 439 Q>K No TOPMed
rs1765302584 440 H>N No Ensembl
rs145983775 441 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1269321936 441 V>M No TOPMed
gnomAD
rs776859853 442 A>V No ExAC
gnomAD
rs748441071 444 K>Q No ExAC
TOPMed
gnomAD
COSM4823224
COSM4823223
 446 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs375174804 448 Q>E No ESP
ExAC
TOPMed
gnomAD
rs56289242 448 Q>R No Ensembl
rs1403853719 449 K>Q No TOPMed
gnomAD
rs1248364274 451 V>A No gnomAD
rs1182933666 451 V>L No gnomAD
rs1765303175 452 E>V No Ensembl
rs1582712709 453 T>N No Ensembl
rs763154579 454 L>S No ExAC
gnomAD
COSM3612959
COSM3612958
 455 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772803722 457 Q>K No ExAC
TOPMed
gnomAD
rs1414542412 458 E>* No TOPMed
gnomAD
TCGA novel 458 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs201144372 459 L>S No ExAC
TOPMed
gnomAD
rs1765303614 460 K>E No TOPMed
rs1765303724 461 E>A No TOPMed
gnomAD
TCGA novel 461 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs764012510 461 E>K No ExAC
TOPMed
gnomAD
rs1463837604 463 V>I No TOPMed
gnomAD
COSM261669
COSM261670
 464 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs760144631 464 E>K No ExAC
TOPMed
gnomAD
rs115391126
RCV000974387
 465 I>L No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1198934383 465 I>T No TOPMed
rs373482077 466 I>L No ESP
ExAC
TOPMed
gnomAD
rs1368490214 467 C>F No gnomAD
rs1368490214 467 C>Y No gnomAD
rs779403911 468 N>K No ExAC
TOPMed
gnomAD
rs2113055636 468 N>S No Ensembl
rs1765304413 469 L>M No Ensembl
rs1765304413 469 L>V No Ensembl
TCGA novel 470 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM6169869
COSM6169868
 471 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 474 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1765304518 474 T>I No Ensembl
rs755426892 475 Q>P No ExAC
gnomAD
rs914386535 476 L>I No TOPMed
gnomAD
rs781682820 478 D>E No ExAC
gnomAD
rs1765304727 478 D>G No TOPMed
rs1403324384 479 E>D No TOPMed
gnomAD
rs748529206 480 T>A No ExAC
TOPMed
gnomAD
rs1241314271 481 V>L No gnomAD
rs770244898 482 A>V No ExAC
gnomAD
rs1582712768 483 C>F No TOPMed
rs1582712768 483 C>S No TOPMed
rs375631079 484 T>M No ESP
ExAC
TOPMed
gnomAD
rs749497192 485 A>T No ExAC
gnomAD
rs1041610765 486 A>E No TOPMed
rs945998876 486 A>T No TOPMed
rs1327409752 487 A>D No Ensembl
COSM3719941
rs1765305603
COSM3719940
 487 A>T haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
Ensembl
rs574076977 488 I>T No 1000Genomes
ExAC
gnomAD
rs1765305763 488 I>V No TOPMed
gnomAD
rs776561752 489 D>E No ExAC
TOPMed
gnomAD
COSM1542573
COSM1542574
COSM6169867
COSM6169866
rs768487824
 489 D>G lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs760719186 489 D>N No ExAC
TOPMed
gnomAD
rs1765306102
COSM3612961
COSM3612960
 490 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs200812701 491 A>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs200812701 491 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1344937739 492 V>I No gnomAD
rs1469680623 493 E>D No Ensembl
rs2113055845 493 E>G No Ensembl
COSM3612963
COSM3612962
 493 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs17116709 494 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000964995
rs17116709
VAR_049695
 494 E>Q No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1288908774 495 E>A No TOPMed
gnomAD
rs1765306924 495 E>Q No TOPMed
rs1331051908 497 Q>E No gnomAD
rs866406784 497 Q>R No Ensembl
rs111284803 498 V>A No TOPMed
rs754446019 500 T>S No ExAC
rs1765307905 502 P>S No Ensembl
TCGA novel 503 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs781582777 504 T>I No ExAC
TOPMed
gnomAD
rs781582777 504 T>K No ExAC
TOPMed
gnomAD
rs781582777 504 T>R No ExAC
TOPMed
gnomAD
COSM6169864
COSM6169865
 506 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1042220976 507 S>F No Ensembl
COSM1064826
COSM1064827
 507 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs199913629 510 A>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199913629 510 A>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199913629 510 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1053563508 510 A>V No TOPMed
gnomAD
rs745937290 511 F>L No ExAC
TOPMed
gnomAD
rs200070580 512 T>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1765308775 512 T>I No Ensembl
rs776601586 513 T>A No ExAC
gnomAD
COSM1064829
COSM1064828
rs761710449
 515 H>Y Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
COSM3612964
COSM3612965
 516 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3612966
rs769646905
COSM3612967
 517 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
COSM3853070
COSM3853069
 519 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs887936937 520 A>T No Ensembl
rs201752313 520 A>V No ExAC
TOPMed
gnomAD
rs1015186945 521 Q>* No TOPMed
gnomAD
TCGA novel 521 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs78450697 522 M>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs200179771 523 S>P No 1000Genomes
rs906226560 524 K>E No Ensembl
TCGA novel 525 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2113056046 525 E>K No Ensembl
rs1378133075 526 V>A No TOPMed
COSM3853071
COSM3853072
rs765952788
 527 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 531 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs758992898 532 A>S No ExAC
gnomAD
rs758992898 532 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs767029578 534 A>P No ExAC
gnomAD
rs753296178 537 E>D No ExAC
TOPMed
gnomAD
rs1765310040 539 L>I No TOPMed
gnomAD
rs1765310040 539 L>V No TOPMed
gnomAD
rs1229885882 540 V>F No gnomAD
rs878919413 541 R>K No Ensembl
rs201815086 543 M>V No 1000Genomes
TOPMed
gnomAD
TCGA novel 545 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1452708675 548 N>K No gnomAD
TCGA novel 548 N>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1765310555 549 Q>H No Ensembl
rs951131399 550 L>P No Ensembl
rs1582712953 551 Q>* No Ensembl
COSM6102688
COSM6102689
 551 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs754264952 552 P>S No ExAC
gnomAD
rs1369603847 554 Q>P No gnomAD
rs1161987760 556 Q>R No gnomAD
rs746051747 557 Y>* No ExAC
gnomAD
rs371522101 557 Y>H No ESP
ExAC
TOPMed
gnomAD
rs371522101 557 Y>N No ESP
ExAC
TOPMed
gnomAD
rs1170750586 558 Q>K No gnomAD
rs772087187 558 Q>R No ExAC
gnomAD
rs748145782 559 D>E No ExAC
gnomAD
rs780106069 559 D>G No ExAC
gnomAD
rs780106069 559 D>V No ExAC
gnomAD
rs1005279093 560 N>S No TOPMed
gnomAD
rs1312584356 561 I>M No TOPMed
gnomAD
rs1017125273 561 I>T No Ensembl
rs769740440 562 K>* No ExAC
gnomAD
COSM1435477
COSM1435478
 562 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs769740440 562 K>Q No ExAC
gnomAD
rs1228638541 563 N>D No TOPMed
gnomAD
rs1228638541 563 N>H No TOPMed
gnomAD
COSM4892809
COSM4892808
 565 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1561756359 565 E>K No Ensembl
TCGA novel 568 V>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs749070219 570 N>S No ExAC
TOPMed
gnomAD
rs1194803627 571 L>R No gnomAD
rs1765311655 572 Q>* No Ensembl
rs914442397 573 K>N No TOPMed
rs770712289 574 E>* No ExAC
gnomAD
COSM3919437
rs770712289
COSM3919438
 574 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs773921953 575 K>E No ExAC
TOPMed
gnomAD
rs1242878556 575 K>N No gnomAD
rs759193969 575 K>R No ExAC
gnomAD
rs759193969 575 K>T No ExAC
gnomAD
COSM5402830
COSM5402829
 576 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1450525046 576 E>Q No TOPMed
gnomAD
COSM6102686
COSM590782
COSM590783
rs775125448
COSM6102687
 578 L>F lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1325892804 579 V>A No gnomAD
rs760200883 580 R>C No ExAC
gnomAD
rs6580126 580 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_049696
rs6580126
 580 R>L No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 580 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs757582953 581 E>K No ExAC
TOPMed
gnomAD
rs765607617 583 Q>R No ExAC
gnomAD
rs977466389 584 T>A No TOPMed
gnomAD
COSM1328958
COSM1328957
 584 T>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs750681047 585 A>E No ExAC
gnomAD
rs750681047 585 A>G No ExAC
gnomAD
rs758637208 586 K>E No ExAC
gnomAD
rs1324255563 587 K>N No gnomAD
rs780195464 588 N>D No ExAC
TOPMed
gnomAD
rs780195464 588 N>H No ExAC
TOPMed
gnomAD
rs1765312726 588 N>K No Ensembl
rs2113056410 589 V>A No Ensembl
rs1256027580 590 N>D No gnomAD
rs1765312907 590 N>K No Ensembl
rs747096792 590 N>S No ExAC
TOPMed
gnomAD
rs755011320 591 Q>* No ExAC
TOPMed
gnomAD
rs755011320 591 Q>K No ExAC
TOPMed
gnomAD
rs777711441 591 Q>L No ExAC
gnomAD
rs1465621542 593 K>Q No gnomAD
rs1765313193 593 K>R No TOPMed
gnomAD
rs139510975 594 L>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1765313363 595 S>N No TOPMed
rs1420369370 596 E>A No TOPMed
rs1420369370 596 E>G No TOPMed
rs1582713080 597 H>P No Ensembl
rs1582713080 597 H>R No Ensembl
COSM3245929
COSM3245928
rs771863736
 598 R>C Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM271342
COSM271343
rs775211305
 598 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs184410518 599 H>Y No 1000Genomes
ExAC
TOPMed
gnomAD
rs1765313764 600 K>N No Ensembl
rs1421866107 600 K>R No TOPMed
gnomAD
rs1765313822 601 L>F No Ensembl
COSM3612971
COSM3612970
 602 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1174162413 603 Q>* No gnomAD
rs763646483 604 E>G No ExAC
gnomAD
rs1415635580 605 L>Q No TOPMed
gnomAD
TCGA novel 606 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs762378944 607 G>A No ExAC
gnomAD
rs1457710723 607 G>R No TOPMed
gnomAD
COSM1328956
COSM1328955
 608 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1765314238 609 I>T No TOPMed
rs1765314324 610 A>V No TOPMed
gnomAD
rs1765314403 612 L>V No Ensembl
rs752547410 613 K>N No ExAC
TOPMed
gnomAD
COSM273600
COSM273601
 614 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1218236865 614 K>R No TOPMed
gnomAD
rs1765314636 616 L>M No Ensembl
rs375089807 616 L>P No ESP
ExAC
TOPMed
gnomAD
rs1221218253 618 E>* No TOPMed
gnomAD
rs766623630 618 E>A No ExAC
TOPMed
gnomAD
rs766623630 618 E>G No ExAC
TOPMed
gnomAD
rs551299472 619 Q>K No 1000Genomes
ExAC
gnomAD
rs1765315182 619 Q>L* No Ensembl
rs755103001 620 S>F No ExAC
TOPMed
rs755103001 620 S>Y No ExAC
TOPMed
rs1765315326 621 K>N No gnomAD
TCGA novel 621 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1211148204 621 K>T No gnomAD
rs1259290505 622 L>P No TOPMed
gnomAD
rs113000629 623 L>P No Ensembl
TCGA novel 623 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs781215402 624 K>E No ExAC
gnomAD
rs753783571 625 L>P No ExAC
TOPMed
gnomAD
rs1765315683 626 K>E No Ensembl
rs1765315774 627 E>V No Ensembl
rs1323890429 628 S>A No TOPMed
rs921937969 628 S>F No TOPMed
gnomAD
rs1582713164 630 E>G No TOPMed
gnomAD
COSM3784674
rs369146077
COSM3784675
 631 R>C pancreas [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
COSM3245936
COSM3245937
rs778653406
 631 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778653406 631 R>L No ExAC
TOPMed
gnomAD
rs778653406 631 R>P No ExAC
TOPMed
gnomAD
rs758183986 632 T>I No ExAC
TOPMed
gnomAD
rs779873925 633 V>I No ExAC
TOPMed
gnomAD
rs746636423 636 L>M No ExAC
TOPMed
gnomAD
rs746636423 636 L>V No ExAC
TOPMed
gnomAD
rs774144616 638 Q>K No TOPMed
gnomAD
TCGA novel 638 Q>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1765316776 640 I>K No TOPMed
rs1765316722 640 I>L No Ensembl
rs1005061512 640 I>M No TOPMed
rs1765316722 640 I>V No Ensembl
COSM3612977
COSM3612976
rs1765316997
 641 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1765316947 641 W>* No Ensembl
TCGA novel 641 W>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs776193614 641 W>R No ExAC
TOPMed
gnomAD
rs2113056778 642 M>T No Ensembl
rs1350605062 642 M>V No gnomAD
TCGA novel 643 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs761171697 644 K>E No ExAC
TOPMed
gnomAD
rs770338368 645 N>H No ExAC
TOPMed
gnomAD
TCGA novel 645 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs906432569 646 Q>E No Ensembl
rs750724644 647 R>G No ExAC
TOPMed
gnomAD
rs149307043 647 R>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs149307043
COSM449177
COSM449176
 647 R>Q breast [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs750724644 647 R>W No ExAC
TOPMed
gnomAD
rs1365899502 649 Q>R No gnomAD
rs1477880726 650 L>F No TOPMed
rs372463451 651 M>I No ESP
ExAC
TOPMed
gnomAD
COSM1739124
COSM1739125
rs751821797
 652 R>C haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs751821797 652 R>G No ExAC
TOPMed
gnomAD
rs199820075
COSM590778
COSM590779
 652 R>H lung Variant assessed as Somatic; MODERATE impact. large_intestine central_nervous_system [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751821797 652 R>S No ExAC
TOPMed
gnomAD
rs1266531776 653 Q>K No TOPMed
COSM3919439
COSM3919440
 654 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1484102790 654 M>L No gnomAD
rs767548949 656 E>D No ExAC
TOPMed
gnomAD
rs752831419 657 D>G No ExAC
TOPMed
gnomAD
rs756077306 658 A>V No ExAC
TOPMed
gnomAD
rs778939960 659 E>A No ExAC
TOPMed
gnomAD
rs778939960 659 E>G No ExAC
TOPMed
gnomAD
rs199579097 660 K>N No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 660 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs758316264 661 F>C No ExAC
gnomAD
rs1370612852 664 W>C No gnomAD
rs1162579337 664 W>R No TOPMed
gnomAD
rs1005342836 665 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs779961819 666 Q>L No ExAC
TOPMed
gnomAD
rs779961819 666 Q>R No ExAC
TOPMed
gnomAD
rs780313687 667 K>E No Ensembl
rs746718347 667 K>R No ExAC
gnomAD
TCGA novel 669 D>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 669 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1765318814 670 K>* No TOPMed
gnomAD
rs1317555020 671 E>* No TOPMed
gnomAD
TCGA novel 671 E>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs768437786 672 V>I No ExAC
gnomAD
rs1275686635 673 I>K No TOPMed
gnomAD
TCGA novel 673 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs567513416 673 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs375883993 674 Q>* No ESP
ExAC
TOPMed
gnomAD
rs375883993 674 Q>E No ESP
ExAC
TOPMed
gnomAD
rs375883993 674 Q>K No ESP
ExAC
TOPMed
gnomAD
rs769141826 674 Q>P No ExAC
TOPMed
gnomAD
TCGA novel 677 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs868202509 677 E>K No TOPMed
gnomAD
rs200007511 678 R>* No 1000Genomes
TOPMed
gnomAD
COSM261672
COSM261671
rs900025967
 678 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs1294789419 679 D>E No TOPMed
gnomAD
COSM3612979
rs369199447
COSM3612978
 680 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
VAR_049697
rs17116710
 680 R>H No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 682 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM737107
COSM737106
 682 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 683 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs774682102 683 Q>K No ExAC
TOPMed
gnomAD
rs10056252
VAR_061281
 684 Y>C No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs767779787 684 Y>H No ExAC
gnomAD
TCGA novel 685 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1228806902 686 L>M No TOPMed
gnomAD
rs977239574 686 L>P No TOPMed
gnomAD
rs977239574 686 L>R No TOPMed
gnomAD
rs1228806902 686 L>V No TOPMed
gnomAD
rs1466971011 688 K>R No TOPMed
gnomAD
COSM3919442
COSM3919441
 691 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs144537396 691 R>S No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 692 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs750423965 692 N>K No ExAC
gnomAD
rs1223098301 692 N>T No TOPMed
gnomAD
rs1298603518 693 F>V No gnomAD
rs1765321408 695 K>E No gnomAD
rs1213043365 696 Q>* No gnomAD
rs1765321528 698 S>R No Ensembl
rs779348805 699 V>A No Ensembl
rs200213092 700 L>P No 1000Genomes
rs199983305 701 R>I No 1000Genomes
rs200320925 702 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200320925 702 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs377762469 702 R>H No ESP
ExAC
TOPMed
gnomAD
rs200320925 702 R>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1264992694 703 K>R No gnomAD
rs760342797 704 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs957365511 706 E>A No TOPMed
gnomAD
rs371503907 707 A>T No ESP
ExAC
TOPMed
gnomAD
rs373576341 708 A>T No ESP
ExAC
TOPMed
gnomAD
rs1765322166
COSM1486524
COSM1486525
 710 A>V Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1184441069 711 N>K No TOPMed
gnomAD
rs1765322210 711 N>S No Ensembl
rs200206658
COSM1435480
COSM1435479
 713 R>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM119652
COSM119653
 713 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1179198998
COSM3245951
COSM3245950
 713 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1765322485 714 L>F No Ensembl
rs563300358 714 L>P No 1000Genomes
TOPMed
gnomAD
rs774770009
COSM1064832
COSM1064833
 715 K>N Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs771438775 715 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1765322691 716 D>G No TOPMed
rs1347346626 718 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1428850922 719 Q>* No TOPMed
gnomAD
rs746259237 719 Q>P No ExAC
TOPMed
gnomAD
TCGA novel 721 Q>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs772275476 722 R>* No ExAC
TOPMed
gnomAD
rs775829914 722 R>Q No ExAC
TOPMed
gnomAD
rs1281456261 723 E>K No TOPMed
gnomAD
COSM1064837
COSM1064836
 724 V>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1260163044 726 D>G No TOPMed
rs772359345 727 K>Q No Ensembl
rs200227129 727 K>R No 1000Genomes
rs374852803 728 R>Q No ESP
ExAC
TOPMed
gnomAD
COSM302494
rs776866601
COSM302493
 728 R>W Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1213187677 729 K>* No TOPMed
gnomAD
rs267600506 730 E>K No Ensembl
rs927760802 731 T>I No Ensembl
rs369248303 734 H>L No ESP
TOPMed
TCGA novel 735 G>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1200875176 736 K>E No gnomAD
rs2113057438 736 K>N No Ensembl
rs1311335445 737 E>G No TOPMed
TCGA novel 737 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1765324361 738 G>D No gnomAD
rs1240646270 738 G>S No TOPMed
gnomAD
rs1765324458 739 I>M No Ensembl
rs1426610968 739 I>T No TOPMed
gnomAD
rs373646769 740 A>E No ESP
ExAC
TOPMed
gnomAD
rs1160603243 741 A>T No gnomAD
rs1410588605 741 A>V No gnomAD
rs1399377043 742 R>* No TOPMed
gnomAD
rs376936430 742 R>Q No ESP
ExAC
TOPMed
gnomAD
TCGA novel 746 W>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 747 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 748 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2113057476 748 G>R No Ensembl
rs1350617668
COSM119652
COSM119653
 748 G>V ovary [Cosmic] No cosmic curated
gnomAD
rs1765325074 752 E>G No Ensembl
rs1407008475 752 E>K No TOPMed
gnomAD
rs1765325168 754 M>V No TOPMed
rs41390849 755 V>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs41390849 755 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs117036493 757 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs117036493 757 T>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs748797878 758 E>* No ExAC
gnomAD
rs748797878 758 E>K No ExAC
gnomAD
rs1352558181 760 A>G No gnomAD
rs756711898 760 A>S No ExAC
gnomAD
rs756711898 760 A>T No ExAC
gnomAD
rs559171816 762 R>C No 1000Genomes
TOPMed
gnomAD
rs559171816 762 R>G No 1000Genomes
TOPMed
gnomAD
COSM1064839
rs779418962
COSM1064838
 762 R>H Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1003572806 763 H>R No TOPMed
gnomAD
rs1266108932 764 L>V No gnomAD
rs772524902 766 D>E No ExAC
TOPMed
gnomAD
TCGA novel 766 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1361486187 767 L>F No Ensembl
COSM737104
COSM737105
 768 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1469056600 768 L>P No TOPMed
gnomAD
COSM3919443
COSM3919444
 769 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1765328698 772 K>Q No Ensembl
rs377351058 773 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs528298056 774 L>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1161949094 775 A>D No gnomAD
rs762006437 776 Q>* No ExAC
TOPMed
gnomAD
COSM4841283
COSM4841282
 776 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs762006437 776 Q>K No ExAC
TOPMed
gnomAD
rs1410139878 776 Q>L No TOPMed
gnomAD
rs1765329102 777 D>G No TOPMed
gnomAD
rs765390472 777 D>N No ExAC
TOPMed
gnomAD
COSM1064841
rs1554107188
COSM1064840
 780 Q>K Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs1292453186 781 L>F No TOPMed
gnomAD
rs1353401575 781 L>H No gnomAD
rs1292453186 781 L>I No TOPMed
gnomAD
rs1290567312
COSM3429184
COSM3429183
 783 E>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs759390089 783 E>G No ExAC
TOPMed
gnomAD
rs1290567312 783 E>K No TOPMed
gnomAD
rs1765329936 784 K>E No TOPMed
rs891248821 786 E>D No TOPMed
gnomAD
rs866289935 786 E>K No gnomAD
rs866289935 786 E>Q No gnomAD
rs1582713556 787 S>C No Ensembl
COSM3410039
rs370994878
COSM3410040
 788 R>Q Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1011207360 788 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1397638007 789 E>K No TOPMed
rs1765330255 790 N>Y No Ensembl
rs1195800030 791 P>L No gnomAD
rs188233871 791 P>T No 1000Genomes
COSM3612987
COSM3612986
 792 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs752446313 793 P>L No ExAC
TOPMed
gnomAD
rs1765330354 793 P>T No TOPMed
gnomAD
rs760449567 794 K>E No ExAC
TOPMed
gnomAD
TCGA novel 795 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs193075545 796 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs373982671 796 R>Q No ESP
ExAC
TOPMed
gnomAD
rs193075545
COSM4433375
COSM4433376
 796 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778362465 798 C>R No ExAC
TOPMed
gnomAD
rs751003179 798 C>Y No ExAC
gnomAD
rs531425124 799 T>A No 1000Genomes
ExAC
TOPMed
gnomAD
COSM1064842
COSM1064843
COSM270654
COSM270655
rs1372757918
 800 F>L Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs780545678 801 S>C No ExAC
TOPMed
gnomAD
rs780545678 801 S>F No ExAC
TOPMed
gnomAD
rs957390300 802 L>F No TOPMed
gnomAD
rs2113057846 802 L>P No Ensembl
rs957390300 802 L>V No TOPMed
gnomAD
rs1765330911 804 E>Q No TOPMed
gnomAD
rs990096039 805 V>L No Ensembl
rs1023356693 806 H>R No TOPMed
gnomAD
rs1330641210 806 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
COSM1435482
rs1312645745
COSM1435481
 807 G>D Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs2113057875 807 G>S No Ensembl
rs1312645745 807 G>V No gnomAD
TCGA novel 808 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM6042020
COSM6042021
 808 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1765331170 809 V>I No TOPMed
rs370274781 811 E>K No ESP
ExAC
TOPMed
gnomAD
rs1765331264 812 S>P No Ensembl
rs1451031659 813 E>K No TOPMed
gnomAD
rs1265170352 814 D>G No TOPMed
rs1255846998 815 C>R No TOPMed
gnomAD
rs975611507 815 C>Y No TOPMed
gnomAD
rs116330056 816 I>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1216363992 816 I>T No TOPMed
rs1195711805 817 T>A No gnomAD
rs567671560 817 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs773154720 819 Q>H No ExAC
rs1202094916 819 Q>R No TOPMed
gnomAD
rs1329906341 820 I>T No TOPMed
rs1242938909 822 S>N No TOPMed
gnomAD
TCGA novel 824 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 824 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs367879026 825 T>I No ESP
TOPMed
gnomAD
rs370477755 827 M>V No ESP
TOPMed
gnomAD
rs1582713677 828 E>D No TOPMed
rs1765332668 828 E>G No Ensembl
TCGA novel 830 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs763033669 831 S>T No ExAC
gnomAD
rs771905325 834 I>T No ExAC
TOPMed
gnomAD
rs1561757015 835 A>V No Ensembl
COSM1435483
COSM1435484
 836 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3373766
COSM3373765
 836 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs758942033 837 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1765332980 837 L>Q No TOPMed
COSM3975349
COSM3975350
 838 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 841 L>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1334393327 842 L>P No gnomAD
TCGA novel 845 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2113058086 846 S>G No Ensembl
rs368593596 848 D>A No ESP
TOPMed
rs1321758825 848 D>N No TOPMed
rs1765333283 849 R>G No gnomAD
rs763854467 849 R>K No ExAC
gnomAD
rs1765333283 849 R>W No gnomAD
rs1765333418 850 P>T No Ensembl
rs61741703 851 K>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1200863946 853 C>R No TOPMed
gnomAD
rs1765333619 854 W>* No Ensembl
COSM5107612
COSM5107611
 854 W>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs759410980 855 E>D No ExAC
TOPMed
gnomAD
rs761448441 855 E>G No ExAC
TOPMed
gnomAD
COSM449179
COSM449178
 855 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs749908234 856 N>S No ExAC
gnomAD
rs765206113 857 I>T No TOPMed
gnomAD
TCGA novel 858 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1765333976 862 E>D No Ensembl
rs757888051 862 E>K No ExAC
TOPMed
gnomAD
TCGA novel
rs547105317
 864 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
gnomAD
NCI-TCGA
rs1311952001 864 K>T No gnomAD
rs752085184 865 C>* No ExAC
gnomAD
TCGA novel 868 K>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs267600507 868 K>N No Ensembl
rs1765334226 869 Y>C No TOPMed
gnomAD
rs941231333 871 I>T No TOPMed
COSM3612995
COSM3612994
 872 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs185657796 873 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs1765334434 874 L>M No gnomAD
rs1481353867 875 V>F No gnomAD
rs1765334564 876 S>F No gnomAD
rs770156883 877 S>C No ExAC
TOPMed
gnomAD
rs770156883 877 S>F No ExAC
TOPMed
gnomAD
rs777981370 878 K>* No ExAC
gnomAD
rs1277139256 878 K>N No TOPMed
gnomAD
rs1765334787 879 I>M No TOPMed
rs1373369867 880 H>Y No gnomAD
rs770990217 881 V>A No ExAC
gnomAD
rs1376634027 882 T>I No TOPMed
gnomAD
rs1765335423
COSM3393360
COSM3393361
 883 K>N pancreas [Cosmic] No cosmic curated
TOPMed
rs1765335393 883 K>T No TOPMed
rs1284668407 884 L>F No TOPMed
gnomAD
rs1765335512 884 L>P No Ensembl
TCGA novel 884 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1765335552 885 E>Q No Ensembl
rs928837464 887 S>N No TOPMed
COSM737103
COSM737102
 887 S>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1401365475 890 Q>E No TOPMed
gnomAD
rs775335551 891 S>N No ExAC
gnomAD
rs761536783 893 A>G No ExAC
TOPMed
gnomAD
rs539284143 893 A>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs539284143 893 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs539284143 893 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs762787846 895 C>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs762787846 895 C>Y No ExAC
TOPMed
gnomAD
rs1056335592 897 D>G No TOPMed
gnomAD
rs762418876 898 M>T No ExAC
TOPMed
gnomAD
rs367677645 898 M>V No ESP
ExAC
TOPMed
gnomAD
TCGA novel 899 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs752076503 901 M>I No ExAC
gnomAD
rs765883151
COSM590772
COSM6102679
COSM6102678
COSM590773
 901 M>L lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1561757155 902 L>P No gnomAD
rs1765336470 905 E>D No TOPMed
rs374500958 906 Q>* No ESP
ExAC
TOPMed
gnomAD
rs374500958 906 Q>E No ESP
ExAC
TOPMed
gnomAD
rs374500958 906 Q>K No ESP
ExAC
TOPMed
gnomAD
COSM1064844
COSM1064845
 908 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 909 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1486527
COSM1486526
 911 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1353691077 911 E>V No TOPMed
rs756503889 912 I>T No ExAC
gnomAD
rs1163876992 913 E>D No gnomAD
rs1765336823 913 E>V No Ensembl
rs777877608 917 Q>* No ExAC
TOPMed
gnomAD
rs777877608 917 Q>E No ExAC
TOPMed
gnomAD
COSM3429185
COSM3429186
 918 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1765337011 918 A>V No Ensembl
rs2113058540 920 L>M No Ensembl
rs747004901 923 M>I No ExAC
TOPMed
gnomAD
rs1765337175 923 M>K No TOPMed
rs1765337175 923 M>T No TOPMed
rs768593085 928 Q>* No ExAC
TOPMed
gnomAD
rs1376681912 928 Q>H No gnomAD
rs768593085 928 Q>K No ExAC
TOPMed
gnomAD
rs61732666 928 Q>P No TOPMed
rs763819485 929 E>D No gnomAD
rs1765337429 930 K>R No gnomAD
rs776512527 931 V>L No ExAC
gnomAD
rs776512527 931 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs769609472 933 Y>H No ExAC
rs772781156 934 L>F No ExAC
gnomAD
rs1765337609 934 L>R No TOPMed
rs762665247 935 V>I No ExAC
gnomAD
rs765867352 936 S>I No ExAC
TOPMed
gnomAD
rs765867352 936 S>N No ExAC
TOPMed
gnomAD
rs575864472 936 S>R No 1000Genomes
ExAC
gnomAD
rs753204319 937 Q>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs970427386 938 L>R No Ensembl
rs1561757211 938 L>V No Ensembl
rs764485440 939 Q>* No ExAC
gnomAD
rs1765337990 939 Q>R No TOPMed
rs2113058687 940 E>Q No Ensembl
COSM4912295
rs754074497
COSM4912296
 941 S>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1582713913 943 M>I No TOPMed
rs1765338150 944 A>S No Ensembl
rs757488838 945 E>* No ExAC
gnomAD
TCGA novel 945 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs778943287 946 K>R No ExAC
gnomAD
TCGA novel 946 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs745950702 949 E>Q No ExAC
gnomAD
rs1765338350 951 S>* No Ensembl
TCGA novel 952 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 953 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs781158962 953 S>N No ExAC
gnomAD
rs1765338522 953 S>R No Ensembl
TCGA novel 955 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs748047726 956 E>K No ExAC
TOPMed
gnomAD
rs748047726 956 E>Q No ExAC
TOPMed
gnomAD
rs190616797 956 E>V No 1000Genomes
ExAC
TOPMed
gnomAD
COSM1064846
COSM1064847
 957 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1453917857 958 Q>L No gnomAD
rs1453917857 958 Q>R No gnomAD
RCV000886571
COSM737101
rs148448511
COSM737100
 959 L>P lung [Cosmic] No cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs960561051 963 L>M No TOPMed
gnomAD
rs1227983770 963 L>R No TOPMed
gnomAD
rs1284545875 964 Q>P No Ensembl
rs982627381 965 C>* No Ensembl
rs1291907783 965 C>R No Ensembl
rs2113058843 966 Q>K No Ensembl
rs770624305 967 D>V No ExAC
gnomAD
rs748982585 967 D>Y No ExAC
gnomAD
COSM3612996
COSM3612997
rs1765339025
 968 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1765339145 970 L>F No TOPMed
rs774110771 970 L>P No ExAC
TOPMed
gnomAD
rs774110771 970 L>R No ExAC
TOPMed
gnomAD
rs1449594233 971 E>G No gnomAD
rs1172594017 972 K>* No gnomAD
rs1244767879 973 M>L No gnomAD
rs1244767879 973 M>V No gnomAD
rs759136573 974 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs759136573 974 R>G No ExAC
TOPMed
gnomAD
rs771683752 974 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs761236744 978 E>D No ExAC
TOPMed
gnomAD
rs776176488 978 E>K No ExAC
TOPMed
gnomAD
rs776176488 978 E>Q No ExAC
TOPMed
gnomAD
rs764424645 979 Q>* No ExAC
gnomAD
TCGA novel 981 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1470597934 983 L>F No TOPMed
gnomAD
rs201982435 984 L>H No ESP
TOPMed
gnomAD
rs201982435 984 L>P No ESP
TOPMed
gnomAD
TCGA novel 986 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1404403458 987 N>H No gnomAD
rs1447538608 987 N>I No TOPMed
gnomAD
rs754241501 987 N>K No ExAC
gnomAD
rs1447538608 987 N>S No TOPMed
gnomAD
COSM3853078
COSM3853077
 989 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs762015891 990 I>T No ExAC
gnomAD
rs200191133 991 K>R No ExAC
gnomAD
rs1765340014 992 Q>H No TOPMed
rs750634727 992 Q>R No Ensembl
rs758512849 994 L>P No ExAC
TOPMed
gnomAD
TCGA novel 994 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1334582899 996 L>F No TOPMed
gnomAD
rs1334582899 996 L>V No TOPMed
gnomAD
rs1765340335 998 Q>* No Ensembl
COSM6102677
COSM6102676
 998 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756410086 998 Q>R No ExAC
TOPMed
gnomAD
rs777507487 999 V>I No ExAC
TOPMed
gnomAD
rs749141967 1000 A>P No ExAC
gnomAD
COSM6102674
rs749141967
COSM590769
COSM6102675
COSM590768
 1000 A>S lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
ExAC
gnomAD
rs1486644509 1000 A>V No gnomAD
rs200058618 1001 S>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs542239503 1003 Q>E No 1000Genomes
ExAC
gnomAD
rs1179260000 1003 Q>H No gnomAD
rs542239503 1003 Q>K No 1000Genomes
ExAC
gnomAD
rs1415558808 1005 H>Y No TOPMed
gnomAD
COSM1542564
rs771771467
COSM1542563
 1006 L>I lung [Cosmic] No cosmic curated
ExAC
gnomAD
rs775125366 1006 L>R No ExAC
TOPMed
gnomAD
COSM3853080
rs1016306406
COSM3853079
 1007 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs1016306406 1007 P>R No TOPMed
rs1765340866 1008 N>D No Ensembl
rs148733807 1009 D>N No Ensembl
COSM3612999
COSM3612998
rs1347120072
 1010 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs769210761 1011 L>F No ExAC
TOPMed
gnomAD
rs2113059172 1013 S>Y No Ensembl
TCGA novel 1015 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1765341080 1017 S>A No TOPMed
rs1765341114 1018 F>L No Ensembl
COSM3410041
COSM3410042
 1019 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1428550149 1021 I>S No TOPMed
gnomAD
rs1428550149 1021 I>T No TOPMed
gnomAD
rs1346272272 1023 P>S No gnomAD
rs1561757357 1025 P>L No gnomAD
TCGA novel 1026 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs762288699 1027 P>H No ExAC
TOPMed
gnomAD
rs776962379 1027 P>S No ExAC
TOPMed
gnomAD
rs776962379 1027 P>T No ExAC
TOPMed
gnomAD
TCGA novel 1027 P>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs765555260 1028 S>F No ExAC
TOPMed
gnomAD
rs1342605207 1028 S>P No gnomAD
rs750712721 1029 R>C No ExAC
TOPMed
gnomAD
rs60928118 1029 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs60928118 1029 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs60928118 1029 R>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1214040374 1030 V>G No gnomAD
rs777792116 1033 K>N No ExAC
gnomAD
rs754976941 1033 K>Q No ExAC
TOPMed
gnomAD
rs1477992451 1037 Q>K No gnomAD
rs1765342611 1037 Q>R No TOPMed
gnomAD
rs753692831 1038 S>R No ExAC
TOPMed
gnomAD
COSM1542562
rs757111029
COSM6169855
COSM1542561
COSM6169854
 1039 M>I lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
ExAC
TOPMed
gnomAD
NCI-TCGA Cosmic
rs142709928 1041 I>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM4345907
COSM4345908
 1042 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1733442
COSM1733441
rs1765342855
 1042 E>G pancreas [Cosmic] No cosmic curated
TOPMed
gnomAD
rs559518945 1042 E>K No TOPMed
gnomAD
rs771863385 1043 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
TCGA novel 1043 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1329217209 1047 C>G No gnomAD
rs1329217209 1047 C>R No gnomAD
rs376506646 1047 C>Y No gnomAD
rs1765343185 1049 E>A No TOPMed
rs893265672 1049 E>K No TOPMed
gnomAD
rs893265672 1049 E>Q No TOPMed
gnomAD
rs755083458 1054 E>D No ExAC
TOPMed
gnomAD
rs770204112 1055 H>Q No ExAC
TOPMed
gnomAD
COSM1137294
COSM1137293
 1056 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs773583541 1058 G>A No ExAC
gnomAD
rs773583541 1058 G>D No ExAC
gnomAD
TCGA novel 1059 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1765343483 1060 G>D No TOPMed
rs1765343449 1060 G>S No gnomAD
COSM6102673
COSM6102672
 1062 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1765343579 1062 G>S No gnomAD
rs916046052 1063 D>E No TOPMed
COSM338351
rs544665418
COSM338350
 1063 D>N lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
NCI-TCGA
TOPMed
gnomAD
rs1183211329 1064 S>N No gnomAD
rs774391773 1066 E>K No ExAC
TOPMed
gnomAD
rs1561757431 1067 G>E No TOPMed
rs779440753 1069 D>G No ExAC
TOPMed
gnomAD
rs767461061 1069 D>H No ExAC
gnomAD
rs779440753 1069 D>V No ExAC
TOPMed
gnomAD
rs1582714177 1071 E>D No Ensembl
rs1219370472 1072 W>* No TOPMed
gnomAD
rs1311637485 1072 W>C No TOPMed
gnomAD
rs765206870 1072 W>R No ExAC
gnomAD
rs1765344299 1075 T>K No Ensembl
rs1329518474 1076 K>T No gnomAD
rs779778233 1077 L>* No ExAC
TOPMed
gnomAD
rs1765344454 1078 V>I No Ensembl
rs746611503 1079 K>R No ExAC
TOPMed
gnomAD
rs746611503 1079 K>T No ExAC
TOPMed
gnomAD
rs375709341 1080 V>A No TOPMed
gnomAD
rs375709341 1080 V>E No TOPMed
gnomAD
rs754582744 1080 V>L No ExAC
gnomAD
rs377574558 1081 S>A No ESP
ExAC
TOPMed
gnomAD
TCGA novel 1081 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs377574558 1081 S>T No ESP
ExAC
TOPMed
gnomAD
rs1196871130 1084 N>S No gnomAD
rs369855438 1085 I>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1041081171 1086 Q>R No TOPMed
gnomAD
rs950797907 1087 G>E No Ensembl
rs1244154194 1088 C>Y No gnomAD
rs372409553 1089 S>C No ESP
ExAC
TOPMed
gnomAD
rs996979754 1090 C>F No TOPMed
gnomAD
rs201499726 1093 W>* No ESP
ExAC
TOPMed
gnomAD
rs201499726 1093 W>C No ESP
ExAC
TOPMed
gnomAD
rs1475816982 1093 W>L No gnomAD
rs758886432 1094 C>Y No Ensembl
rs200928230 1095 G>E No TOPMed
gnomAD
rs2113059607 1096 N>D No Ensembl
rs1244552928 1096 N>K No TOPMed
gnomAD
rs888272184 1097 K>Q No TOPMed
gnomAD
TCGA novel 1097 K>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs370374254 1098 Q>* No ESP
ExAC
TOPMed
gnomAD
rs1478813113 1099 C>R No gnomAD
COSM1212472
COSM1212471
 1100 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1102 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1482974938 1103 K>M No Ensembl
rs1765345740 1104 Q>* No Ensembl
rs775442208 1104 Q>P No ExAC
gnomAD
rs765294675 1107 D>E No ExAC
COSM1064849
COSM1064848
 1107 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1765345925 1108 C>S No Ensembl
rs750336187 1109 G>C No ExAC
TOPMed
gnomAD
rs1264111549 1110 V>M No gnomAD
rs2113059679 1111 D>A No Ensembl
rs375571653 1111 D>Y No ESP
ExAC
TOPMed
gnomAD
TCGA novel 1112 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1198933626 1112 C>R No TOPMed
gnomAD
rs1255822767 1112 C>Y No TOPMed
gnomAD
rs1765346207 1113 S>N No gnomAD
rs766083932 1114 C>S No ExAC
TOPMed
gnomAD
rs961251119 1114 C>W No TOPMed
rs1261157043 1116 P>H No TOPMed
gnomAD
rs1765346346 1116 P>T No TOPMed
rs1765346419 1117 T>A No TOPMed
rs1476780186 1119 C>R No TOPMed
gnomAD
rs1476780186 1119 C>S No TOPMed
gnomAD
rs373514147
COSM1435491
COSM1435492
 1120 R>Q liver Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3393362
rs369737034
COSM3393363
 1120 R>W pancreas [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1582714309 1121 N>T No Ensembl
rs181007636 1122 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs78358050
COSM1435494
COSM1435493
 1122 R>H large_intestine [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs78358050 1122 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs778305105 1124 Q>* No ExAC
TOPMed
gnomAD
rs1182804476 1125 G>S No TOPMed
gnomAD
rs1765347049 1125 G>V No gnomAD
rs749760982 1127 D>V No ExAC
gnomAD
rs771347035 1128 S>R No ExAC
TOPMed
gnomAD
COSM5810962
COSM5810961
 1130 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1582714335 1131 T>A No TOPMed
rs1423528390 1132 V>G No TOPMed
gnomAD
rs960175620 1133 E>V No TOPMed
rs1183724316 1134 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs369047622 1135 T>S No ESP
ExAC
TOPMed
gnomAD
rs772187337 1136 Q>* No ExAC
gnomAD
rs1765347487 1136 Q>R No gnomAD
rs775739788 1137 D>V No ExAC
gnomAD
COSM3613003
COSM3613002
 1138 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs377248697 1139 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs183622007 1140 G>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1765347648
COSM5402836
COSM5402835
 1140 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs183622007 1140 G>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1765347833 1141 S>F No TOPMed
rs751317348 1143 K>I No ExAC
TOPMed
gnomAD
rs751317348 1143 K>R No ExAC
TOPMed
gnomAD
rs1434851564 1144 L>V No gnomAD
COSM3613005
COSM3613004
 1147 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs202136549 1149 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs1765348164 1150 V>A No gnomAD
rs1765348127 1150 V>M No Ensembl
rs752328889 1151 T>I No ExAC
TOPMed
gnomAD
rs752328889 1151 T>N No ExAC
TOPMed
gnomAD
rs1765348229 1151 T>S No Ensembl
rs755664888 1152 P>Q No ExAC
TOPMed
gnomAD
rs1765348368 1152 P>S No TOPMed
gnomAD
COSM3613006
COSM3613007
 1153 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs777257961 1153 G>R No ExAC
gnomAD
COSM282250
COSM282251
 1153 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs757716016 1155 S>N No ExAC
gnomAD
rs1300977216 1155 S>R No gnomAD
rs779407047 1156 F>C No ExAC
TOPMed
gnomAD
rs779407047 1156 F>S No ExAC
TOPMed
gnomAD
rs746249400 1158 N>K No ExAC
TOPMed
gnomAD
COSM287276
COSM287277
rs772431228
 1159 P>S Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1353261760 1160 V>L No gnomAD
rs934890853 1161 C>F No TOPMed
gnomAD
rs934890853 1161 C>S No TOPMed
gnomAD
COSM1064855
COSM1064854
 1162 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1223241104 1163 T>I No gnomAD
rs375020887 1165 N>S No ESP
ExAC
TOPMed
gnomAD
rs768915444 1169 L>P No ExAC
gnomAD
rs377657793 1170 K>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs377657793 1170 K>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1180120250 1171 E>* No gnomAD
rs770807879 1172 M>I No ExAC
TOPMed
gnomAD
rs1378030169 1172 M>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
COSM6102668
COSM6102669
 1173 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1765349266 1173 C>R No Ensembl
rs568656329 1175 M>V No 1000Genomes
ExAC
gnomAD
COSM1496072
rs759302218
COSM1496071
 1176 E>K kidney [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs759302218 1176 E>Q No ExAC
TOPMed
gnomAD
rs368190931 1177 Q>E No ESP
ExAC
TOPMed
gnomAD
rs1293514206 1177 Q>P No TOPMed
gnomAD
rs1293514206 1177 Q>R No TOPMed
gnomAD
rs1561757676 1178 V>L No TOPMed
rs938925046 1180 S>L No TOPMed
gnomAD
rs752410539 1182 K>R No ExAC
gnomAD
rs1582714456 1183 T>A No Ensembl
rs376245056 1183 T>S No ESP
ExAC
TOPMed
gnomAD
rs753347640 1184 A>G No ExAC
gnomAD
rs763676618 1184 A>P No ExAC
TOPMed
gnomAD
TCGA novel 1185 P>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3410046
COSM3410045
 1186 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756748833 1186 A>P No ExAC
gnomAD
rs756748833 1186 A>S No ExAC
gnomAD
COSM3853081
COSM3853082
rs1005398272
 1186 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs758739235 1187 P>H No TOPMed
gnomAD
rs750919542 1189 P>L No ExAC
TOPMed
gnomAD
rs747321007 1191 D>E No ExAC
gnomAD
rs780553049 1191 D>G No ExAC
gnomAD
rs780553049 1191 D>V No ExAC
gnomAD
rs755257454 1192 L>F No ExAC
gnomAD
COSM3947167
COSM3947168
rs1765350196
 1193 P>S lung [Cosmic] No cosmic curated
TOPMed
TCGA novel 1194 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1415310652 1195 S>* No TOPMed
gnomAD
COSM590761
COSM590760
COSM6102667
rs1415310652
COSM6102666
 1195 S>L lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1415310652 1195 S>W No TOPMed
gnomAD
rs781526107 1196 K>* No ExAC
TOPMed
gnomAD
rs781526107 1196 K>Q No ExAC
TOPMed
gnomAD
rs1392933602 1197 H>Q No TOPMed
gnomAD
rs1161459439 1197 H>R No gnomAD
rs200176041 1197 H>Y No 1000Genomes
TOPMed
gnomAD
rs866223795 1198 G>E No Ensembl
rs748201634 1199 A>T No ExAC
TOPMed
gnomAD
rs367642845 1200 T>A No ESP
ExAC
TOPMed
gnomAD
rs1400076560 1201 E>D No gnomAD
rs1423163664 1202 Y>* No TOPMed
rs1168677856 1205 N>D No TOPMed
gnomAD
rs745817433 1208 P>A No ExAC
TOPMed
gnomAD
COSM737098
COSM737099
 1208 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1453627430 1210 K>E No gnomAD
rs1765350908 1210 K>N No gnomAD
rs1304870928 1212 K>E No gnomAD
rs1765350963 1212 K>N No Ensembl
rs371911920 1214 R>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM5138894
rs558195348
COSM5138893
 1214 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1215 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1582714541 1216 L>P No Ensembl
rs2113060240 1217 A>D No Ensembl
rs1289386473 1218 S>R No TOPMed
gnomAD
rs760392183 1219 N>I No ExAC
TOPMed
gnomAD
rs1765351234 1220 T>S No TOPMed
gnomAD
rs1355287127 1221 S>G No TOPMed
gnomAD
rs1765351327 1221 S>N No TOPMed
rs1215329404 1223 F>L No TOPMed
gnomAD
rs1765351490 1223 F>S No TOPMed
COSM4833851
COSM4833852
 1224 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs575430308 1225 G>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs1196255661 1226 C>Y No TOPMed
gnomAD
rs1210377069 1227 S>P No TOPMed
gnomAD
rs1561757797 1228 P>L No Ensembl
COSM1731693
COSM1731694
rs145343633
 1229 I>M NS [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776214785 1229 I>V No ExAC
TOPMed
gnomAD
rs202083352 1230 E>* No ESP
ExAC
TOPMed
gnomAD
rs200356560 1230 E>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs202083352 1230 E>K No ESP
ExAC
TOPMed
gnomAD
rs367882768 1232 E>* No ESP
ExAC
TOPMed
gnomAD
rs752006333 1232 E>G No ExAC
gnomAD
rs1765352191 1233 A>D No Ensembl
rs201190608 1233 A>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1765352191 1233 A>V No Ensembl
rs181149561 1234 H>Q No 1000Genomes
ExAC
gnomAD
rs1329512289
COSM1542559
COSM1542560
 1234 H>Y lung [Cosmic] No cosmic curated
TOPMed
gnomAD

No associated diseases with Q2VIQ3

3 regional properties for Q2VIQ3

Type Name Position InterPro Accession
domain Kinesin motor domain 7 - 344 IPR001752
conserved_site Kinesin motor domain, conserved site 234 - 245 IPR019821
domain Tesmin/TSO1-like CXC domain 1083 - 1125 IPR033467

Functions

Description
EC Number
Subcellular Localization
  • Nucleus matrix
  • Cytoplasm, cytoskeleton
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
microtubule Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
microtubule associated complex Any multimeric complex connected to a microtubule.
nuclear matrix The dense fibrillar network lying on the inner side of the nuclear membrane.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

6 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
iron-sulfur cluster binding Binding to an iron-sulfur cluster, a combination of iron and sulfur atoms.
metal ion binding Binding to a metal ion.
microtubule binding Binding to a microtubule, a filament composed of tubulin monomers.
microtubule motor activity A motor activity that generates movement along a microtubule, driven by ATP hydrolysis.

5 GO annotations of biological process

Name Definition
microtubule-based movement A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.
mitotic cytokinesis A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells.
mitotic spindle midzone assembly The cell cycle process in which the aggregation, arrangement and bonding together of a set of components forms the spindle midzone.
mitotic spindle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle.
spindle elongation The cell cycle process in which the distance is lengthened between poles of the spindle.

12 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q86VH2 KIF27 Kinesin-like protein KIF27 Homo sapiens (Human) SS
Q2M1P5 KIF7 Kinesin-like protein KIF7 Homo sapiens (Human) EV
O75037 KIF21B Kinesin-like protein KIF21B Homo sapiens (Human) EV
Q7Z4S6 KIF21A Kinesin-like protein KIF21A Homo sapiens (Human) EV
O95239 KIF4A Chromosome-associated kinesin KIF4A Homo sapiens (Human) SS
Q7M6Z4 Kif27 Kinesin-like protein KIF27 Mus musculus (Mouse) SS
Q9QXL1 Kif21b Kinesin-like protein KIF21B Mus musculus (Mouse) SS
B7ZNG0 Kif7 Kinesin-like protein KIF7 Mus musculus (Mouse) SS
Q9QXL2 Kif21a Kinesin-like protein KIF21A Mus musculus (Mouse) EV SS
Q7M6Z5 Kif27 Kinesin-like protein KIF27 Rattus norvegicus (Rat) SS
F1M5N7 Kif21b Kinesin-like protein KIF21B Rattus norvegicus (Rat) SS
Q58G59 kif7 Kinesin-like protein kif7 Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MKEEVKGIPV RVALRCRPLV PKEISEGCQM CLSFVPGETQ VVVGTDKSFT YDFVFDPCTE
70 80 90 100 110 120
QEEVFNKAVA PLIKGIFKGY NATVLAYGQT GSGKTYSMGG AYTAEQENEP TVGIIPRVIQ
130 140 150 160 170 180
LLFKEIDKKS DFEFTLKVSY LEIYNEEILD LLCPSREKAQ INIREDPKEG IKIVGLTEKT
190 200 210 220 230 240
VLVALDTVSC LEQGNNSRTV ASTAMNSQSS RSHAIFTISI EQRKKSDKNC SFRSKLHLVD
250 260 270 280 290 300
LAGSERQKKT KAEGDRLKEG ININRGLLCL GNVISALGDD KKGSFVPYRD SKLTRLLQDS
310 320 330 340 350 360
LGGNSHTLMI ACVSPADSNL EETLSTLRYA DRARKIKNKP IVNIDPHTAE LNHLKQQVQQ
370 380 390 400 410 420
LQVLLLQAHG GTLPGSINAE PSENLQSLME KNQSLVEENE KLSRCLSKAA GQTAQMLERI
430 440 450 460 470 480
ILTEQVNEKL NAKLEELRQH VACKLDLQKL VETLEDQELK ENVEIICNLQ QLITQLSDET
490 500 510 520 530 540
VACTAAAIDT AVEEEAQVET SPETSRSSDA FTTQHALHQA QMSKEVVELN NALALKEALV
550 560 570 580 590 600
RKMTQNDNQL QPIQFQYQDN IKNLELEVIN LQKEKEELVR ELQTAKKNVN QAKLSEHRHK
610 620 630 640 650 660
LLQELEGQIA DLKKKLNEQS KLLKLKESTE RTVSKLNQEI WMMKNQRVQL MRQMKEDAEK
670 680 690 700 710 720
FRQWKQKKDK EVIQLKERDR KRQYELLKLE RNFQKQSSVL RRKTEEAAAA NKRLKDALQK
730 740 750 760 770 780
QREVTDKRKE TQSHGKEGIA ARVRNWLGNE IEVMVSTEEA KRHLNDLLED RKILAQDVVQ
790 800 810 820 830 840
LKEKKESREN PPPKLRKCTF SLSEVHGQVL ESEDCITKQI ESLETEMELR SAQIADLQQK
850 860 870 880 890 900
LLDAESEDRP KQCWENIATI LEAKCALKYL IGELVSSKIH VTKLENSLRQ SKASCADMQK
910 920 930 940 950 960
MLFEEQNHFS EIETELQAEL VRMEQQHQEK VLYLVSQLQE SQMAEKQLEK SASEKEQQLV
970 980 990 1000 1010 1020
STLQCQDEEL EKMREVCEQN QQLLQENEII KQKLILLQVA SRQKHLPNDT LLSPDSSFEY
1030 1040 1050 1060 1070 1080
IPPKPKPSRV KEKFLEQSMD IEDLKYCSEH SVNEHEDGDG DGDSDEGDDE EWKPTKLVKV
1090 1100 1110 1120 1130 1140
SRKNIQGCSC KGWCGNKQCG CRKQKSDCGV DCSCDPTKCR NRQQGKDSLG TVEQTQDSEG
1150 1160 1170 1180 1190 1200
SFKLEDPTEV TPGLSFFNPV CATPNSKILK EMCDMEQVLS KKTAPAPSPF DLPESKHGAT
1210 1220 1230
EYQQNKPPGK KKKRALASNT SFFSGCSPIE EEAH