Descriptions

Kinesin-3 KIF13B autoinhibition involves the coiled-coil 1 (CC1) segment, which interacts with both the neck coil (NC) and the motor domain (MD). This interaction not only inhibits the NC-mediated dimerization, but also prevents the ADP release from the MD, effectively inhibiting the motor activity.

Autoinhibitory domains (AIDs)

Target domain

1-389 (Motor domain and neck coil)

Relief mechanism

Partner binding

Assay

Mutagenesis experiment, Structural analysis

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

5 structures for Q9NQT8

Entry ID Method Resolution Chain Position Source
2COW NMR - A 1685-1771 PDB
3FM8 X-ray 230 A A/B 440-545 PDB
3GBJ X-ray 210 A A/B/C 4-352 PDB
3MDB X-ray 295 A A/B 440-545 PDB
AF-Q9NQT8-F1 Predicted AlphaFoldDB

1934 variants for Q9NQT8

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1816746595 2 G>E No TOPMed
rs756089214 3 D>A No ExAC
gnomAD
rs1816746185 3 D>E No Ensembl
rs756089214 3 D>G No ExAC
gnomAD
rs763983325 3 D>Y No ExAC
gnomAD
rs752467946 4 S>F No ExAC
TOPMed
gnomAD
rs1180904272 4 S>T No gnomAD
rs752467946 4 S>Y No ExAC
TOPMed
gnomAD
rs767403615 5 K>I No ExAC
gnomAD
rs767403615 5 K>R No ExAC
gnomAD
rs1489156088 9 A>V No gnomAD
rs373241482 11 R>W No ESP
ExAC
TOPMed
gnomAD
rs1816745379 13 R>G No Ensembl
rs1816745285 13 R>P No TOPMed
rs765399690 16 N>I No ExAC
TOPMed
gnomAD
rs765399690 16 N>S No ExAC
TOPMed
gnomAD
rs1816744835 17 R>P No Ensembl
rs1237673651 17 R>W No gnomAD
rs1030759553 18 R>Q No TOPMed
gnomAD
rs1189249397 19 E>D No gnomAD
rs2130652102 20 T>S No Ensembl
TCGA novel 21 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1018452157 22 L>V No TOPMed
gnomAD
rs1210285664 23 H>D No TOPMed
gnomAD
rs1199136655 23 H>R No TOPMed
gnomAD
rs1210285664 23 H>Y No TOPMed
gnomAD
rs755556447 25 K>R No ExAC
TOPMed
gnomAD
rs747627167 26 C>R No ExAC
gnomAD
COSM1195198
COSM1195199
rs1212869754
26 C>Y lung [Cosmic] No cosmic curated
gnomAD
rs1338881074 27 V>L No gnomAD
rs573424392 28 V>L No 1000Genomes
rs781142652 29 D>E No ExAC
TOPMed
gnomAD
rs1563822917 30 V>A No Ensembl
rs1815978121 30 V>L No TOPMed
rs1380976838 31 D>G No gnomAD
rs1450506415 31 D>H No gnomAD
rs1336501112 32 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs754910588 33 N>D No ExAC
gnomAD
rs1177291765 33 N>K No TOPMed
gnomAD
rs1815976927 34 K>R No TOPMed
gnomAD
rs1586980383 35 V>G No Ensembl
rs751345506 35 V>I No ExAC
gnomAD
rs1413940192 37 L>F No gnomAD
rs952845164 39 P>T No TOPMed
rs373464930 42 T>M No ESP
ExAC
TOPMed
gnomAD
rs373464930 42 T>R No ESP
ExAC
TOPMed
gnomAD
rs1400344030 43 N>S No gnomAD
rs1179025657 43 N>Y No TOPMed
gnomAD
rs1458974369 44 L>F No gnomAD
rs1458974369 44 L>I No gnomAD
rs1815974542 44 L>P No Ensembl
rs1815974407 45 S>T No Ensembl
rs1311301305 47 G>V No TOPMed
rs1011102621 49 A>T No gnomAD
rs752753259 50 R>G No ExAC
TOPMed
gnomAD
rs768039819 50 R>Q No ExAC
TOPMed
gnomAD
rs752753259 50 R>W No ExAC
TOPMed
gnomAD
rs1364457842 51 G>D No TOPMed
gnomAD
rs2130380148 51 G>S No Ensembl
rs767555368 52 Q>H No ExAC
TOPMed
gnomAD
rs1464629952 52 Q>L No TOPMed
gnomAD
COSM1648085
COSM750738
rs200573525
53 P>L lung [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200573525 53 P>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 55 V>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs558541168 55 V>M No 1000Genomes
ExAC
gnomAD
TCGA novel 56 F>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 57 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs372924504 58 Y>C No ESP
ExAC
gnomAD
rs1384660537 59 D>N No gnomAD
rs1378202439 61 C>F No gnomAD
rs1334460577 64 S>P No gnomAD
rs538851654 65 M>I No 1000Genomes
ExAC
gnomAD
rs762237959 65 M>L No ExAC
TOPMed
gnomAD
rs1813157723 65 M>T No Ensembl
rs762237959 65 M>V No ExAC
TOPMed
gnomAD
rs1267078557 66 D>G No TOPMed
gnomAD
rs1267078557 66 D>V No TOPMed
gnomAD
rs199660413 67 E>Q No ESP
ExAC
TOPMed
gnomAD
rs965617359 68 S>F No TOPMed
rs376813155 68 S>P No ESP
ExAC
gnomAD
rs376813155 68 S>T No ESP
ExAC
gnomAD
rs965617359 68 S>Y No TOPMed
rs1371440953 69 V>I No gnomAD
rs772116769 70 K>Q No ExAC
TOPMed
gnomAD
TCGA novel 71 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1423800580 71 E>G No TOPMed
gnomAD
rs1813156463 72 K>E No gnomAD
rs953039420 72 K>R No TOPMed
gnomAD
rs866873741 74 A>G No Ensembl
rs866873741 74 A>V No Ensembl
rs755825639 75 G>D No ExAC
TOPMed
gnomAD
rs1813045195 77 D>N No TOPMed
gnomAD
COSM282224 77 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs767296475 78 I>T No ExAC
TOPMed
gnomAD
rs1404488870 79 V>L No TOPMed
gnomAD
rs1813044782 80 F>L No Ensembl
rs759071302 81 K>Q No ExAC
TOPMed
gnomAD
rs751114531 81 K>R No ExAC
gnomAD
rs751114531 81 K>T No ExAC
gnomAD
rs1384749364 82 C>R No gnomAD
rs1350404173 84 G>E No TOPMed
rs1813043867 85 E>K No gnomAD
rs1203433257 86 N>T No TOPMed
gnomAD
rs1426507325 88 L>P No gnomAD
rs772875337 91 A>S No ExAC
gnomAD
rs772875337 91 A>T No ExAC
gnomAD
rs1438867821 91 A>V No Ensembl
rs769508690 92 F>S No ExAC
TOPMed
gnomAD
rs761606086 93 D>E No ExAC
gnomAD
rs1243470898 93 D>G No TOPMed
gnomAD
rs1243470898 93 D>V No TOPMed
gnomAD
rs772311578 96 N>D No ExAC
rs745902872 97 A>T No ExAC
gnomAD
rs1813041454 97 A>V No Ensembl
rs771331059 98 C>G No ExAC
TOPMed
gnomAD
rs1222963312 100 F>I No gnomAD
rs1190214308 101 A>V No gnomAD
rs201506710 102 Y>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201506710 102 Y>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778148157 102 Y>H No ExAC
gnomAD
rs1436255257 103 G>* No TOPMed
gnomAD
rs371915765 103 G>A No ESP
ExAC
TOPMed
gnomAD
TCGA novel 107 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1812933291 108 G>* No Ensembl
TCGA novel 108 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs748496343 112 T>I No ExAC
gnomAD
rs781725176 113 M>V No ExAC
TOPMed
gnomAD
rs1442512766 114 M>L No TOPMed
gnomAD
COSM3834554
COSM3834555
114 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1243514772 115 G>S No Ensembl
rs1812932205 116 T>P No TOPMed
gnomAD
rs1812931962 119 Q>K No gnomAD
rs1384412173 120 P>T No gnomAD
rs1812931695 121 G>E No Ensembl
rs1812931466 122 L>I No TOPMed
rs749154799 124 P>R No TOPMed
rs1471126219 128 S>G No gnomAD
rs746602364 128 S>T No ExAC
gnomAD
rs143674632 131 F>L No 1000Genomes
ExAC
gnomAD
rs1292738321 131 F>L No TOPMed
gnomAD
rs749932898 132 E>G No ExAC
gnomAD
rs1214134486 133 R>* No TOPMed
gnomAD
rs757232762 133 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1586898251 134 T>A No Ensembl
rs1812928793 134 T>I No Ensembl
rs1218726419 135 Q>E No TOPMed
rs1812928419 135 Q>H No Ensembl
rs1812927978 137 E>G No TOPMed
rs540759947 137 E>K No gnomAD
rs763946380 138 E>D No ExAC
gnomAD
rs2130315286 138 E>K No Ensembl
rs1586898181 142 Q>K No Ensembl
rs1812926967 146 V>I No Ensembl
rs36011290 147 E>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1812926470 149 S>A No TOPMed
rs770405953 150 Y>C No ExAC
TOPMed
gnomAD
rs149530420 151 M>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs149530420 151 M>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs759625861 152 E>K No ExAC
gnomAD
rs747353276 154 Y>H No ExAC
gnomAD
rs1563769591 156 E>D No Ensembl
COSM3648130
rs779713009
COSM3648131
159 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
TOPMed
gnomAD
rs758026490 159 R>Q No ExAC
TOPMed
gnomAD
rs745358862 160 D>V No ExAC
TOPMed
gnomAD
rs778450352 163 D>N No ExAC
gnomAD
rs1024566514 166 G>R No TOPMed
rs759399782 167 S>N No ExAC
TOPMed
gnomAD
rs377611918 167 S>R No ESP
ExAC
TOPMed
gnomAD
rs759399782 167 S>T No ExAC
TOPMed
gnomAD
rs1265643989
COSM3929534
COSM3929535
168 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs745585309 168 R>H No ExAC
TOPMed
gnomAD
rs1265643989 168 R>S No TOPMed
gnomAD
rs1306106845 169 Q>L No TOPMed
gnomAD
rs1306106845 169 Q>R No TOPMed
gnomAD
rs778544096 170 T>M No ExAC
TOPMed
gnomAD
rs748820334 171 L>S No ExAC
gnomAD
rs777726670 173 V>D No ExAC
gnomAD
rs1430534825 174 R>T No gnomAD
rs756050617 175 E>D No ExAC
rs374562840 176 H>L No ESP
ExAC
TOPMed
gnomAD
rs780911037 177 S>G No ExAC
gnomAD
rs200153696 177 S>R No ESP
ExAC
TOPMed
gnomAD
rs376293627 178 V>M No ESP
TOPMed
gnomAD
rs750613859 181 P>A No ExAC
TOPMed
gnomAD
rs750613859 181 P>S No ExAC
TOPMed
gnomAD
rs754007598 184 D>A No ExAC
gnomAD
rs1206106036 184 D>N No TOPMed
gnomAD
rs1210154058 185 G>E No TOPMed
gnomAD
rs761142986 185 G>R No ExAC
TOPMed
gnomAD
rs369434746 188 K>E No ESP
ExAC
TOPMed
gnomAD
rs1187814183 188 K>I No TOPMed
COSM1331025
COSM1331024
189 L>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1812729341 191 V>I No TOPMed
rs1430330848 192 T>A No TOPMed
gnomAD
rs770602771 194 Y>C No ExAC
gnomAD
rs1463651257 194 Y>N No gnomAD
rs1563765149 198 E>G No Ensembl
rs765997188 199 S>L No ExAC
TOPMed
gnomAD
rs1266413194 202 S>F No gnomAD
rs1300129201 205 N>S No TOPMed
gnomAD
rs1209004480 207 S>C No gnomAD
rs769121640 208 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs747713433 208 R>H No ExAC
TOPMed
gnomAD
rs747713433 208 R>L No ExAC
TOPMed
gnomAD
rs1812654517 214 N>D No TOPMed
rs1812654249 214 N>K No Ensembl
rs776390001 214 N>S No ExAC
TOPMed
gnomAD
rs1376470808 216 N>K No TOPMed
gnomAD
rs116879347 217 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs746775301 219 S>I No ExAC
gnomAD
rs780051811 220 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs757547963
COSM3996020
COSM3996019
221 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1237378889 221 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs749402531 224 A>S No ExAC
gnomAD
rs1434174990 228 I>V No gnomAD
rs576265435 229 T>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs756100272 229 T>I No ExAC
gnomAD
rs767981563 230 L>F No ExAC
gnomAD
rs767981563 230 L>V No ExAC
gnomAD
rs1197762829 232 H>R No gnomAD
rs751911750 233 T>A No ExAC
TOPMed
gnomAD
rs554021855 233 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs554021855 233 T>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs751911750 233 T>S No ExAC
TOPMed
gnomAD
TCGA novel 234 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1812650923 234 L>V No Ensembl
rs1203242454 235 Y>C No TOPMed
gnomAD
COSM245269
rs761192518
236 D>N prostate [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs761192518 236 D>Y No ExAC
TOPMed
gnomAD
rs913982292 237 V>M No TOPMed
gnomAD
rs1812533598 242 S>P No TOPMed
rs865870469 243 G>E No Ensembl
COSM275730 244 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1812533212 245 K>E No TOPMed
rs764769996 247 G>S No ExAC
rs1812532937 248 K>I No gnomAD
rs1812532821 248 K>N No gnomAD
TCGA novel 248 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs761581932 251 L>M No ExAC
gnomAD
rs1053435942 253 D>A No Ensembl
rs1276999381 255 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1319034727 257 S>G No TOPMed
gnomAD
rs753393820 259 R>* No ExAC
gnomAD
rs763630388 259 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs760274305 261 T>M No ExAC
TOPMed
gnomAD
rs775520357 263 T>I No ExAC
gnomAD
rs1812531068 264 G>S No Ensembl
rs933279686 265 A>T No TOPMed
gnomAD
rs1586885606 266 A>S No Ensembl
rs759220461 268 D>E No ExAC
gnomAD
rs1812530268 269 R>K No Ensembl
rs1337053152 271 K>T No gnomAD
rs1812529624 274 S>R No Ensembl
rs1812529497 275 N>H No gnomAD
rs774251931 275 N>S No ExAC
gnomAD
rs1251545399 279 S>F No TOPMed
rs759577380 281 T>A No ExAC
gnomAD
rs774015920 281 T>I No ExAC
gnomAD
rs1472335140 282 T>I No gnomAD
rs770697789 282 T>S No ExAC
gnomAD
rs1193179412 284 G>S No gnomAD
rs1487684645 285 L>V No TOPMed
gnomAD
rs1044841485 287 I>S No Ensembl
rs1812468050 291 A>S No TOPMed
rs747064299 294 S>N No ExAC
gnomAD
rs764782431 297 K>E No ExAC
TOPMed
gnomAD
rs746318135 298 N>K No ExAC
gnomAD
COSM3432335
COSM261658
rs1302902650
299 K>N Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
TOPMed
gnomAD
NCI-TCGA Cosmic
NCI-TCGA
TCGA novel 300 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1456539
COSM1456538
301 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs779299462 303 V>F No ExAC
gnomAD
COSM3648124
rs1812466611
COSM3648125
304 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
COSM3925139
COSM3925138
306 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs375632161 306 R>H No ESP
ExAC
TOPMed
gnomAD
rs1812466352 308 S>* No Ensembl
rs1268938050 311 T>S No TOPMed
gnomAD
rs1563762226 312 W>* No Ensembl
rs2130168577 316 D>E No Ensembl
rs376743977 316 D>G No ESP
rs1362407741 316 D>N No TOPMed
rs1206883853 318 L>I No gnomAD
rs747739598 318 L>P No ExAC
gnomAD
rs770147879
COSM3899496
COSM3899497
319 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
rs770147879 319 G>W No ExAC
TOPMed
rs1246522576 320 G>D No gnomAD
rs1246522576 320 G>V No gnomAD
TCGA novel 320 G>V Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs766314108 321 N>T No ExAC
gnomAD
rs1586871324 324 T>P No Ensembl
rs761608308 325 A>S No ExAC
TOPMed
gnomAD
rs761608308 325 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs767663685 326 M>I No ExAC
TOPMed
gnomAD
rs775729940
COSM4830292
COSM4830291
326 M>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
TOPMed
gnomAD
rs775729940 326 M>V No ExAC
TOPMed
gnomAD
rs1455048993 328 A>S No gnomAD
rs1377863752 329 T>A No TOPMed
rs1411912384 330 V>L No TOPMed
gnomAD
rs1411912384 330 V>M No TOPMed
gnomAD
rs1028056429 332 P>A No Ensembl
rs1314506035 332 P>L No TOPMed
gnomAD
rs142831178 334 A>T No 1000Genomes
ExAC
gnomAD
rs1227564854 335 D>G No TOPMed
rs140358824 335 D>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376444669 338 D>E No ESP
ExAC
TOPMed
gnomAD
rs770228294 338 D>G No ExAC
TOPMed
gnomAD
rs773863869 338 D>H No ExAC
rs1812059257 339 E>G No Ensembl
rs746510390 341 L>V No ExAC
TOPMed
gnomAD
COSM3834552
COSM3834553
342 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1183816207 342 S>L No gnomAD
rs1255481321 343 T>A No TOPMed
gnomAD
rs1250683588 345 R>Q No TOPMed
gnomAD
rs779494332 345 R>W No ExAC
TOPMed
gnomAD
rs372174415 347 A>G No ESP
TOPMed
rs372174415 347 A>V No ESP
TOPMed
COSM3648122
COSM3648123
349 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1249894225
COSM2789027
COSM2789026
349 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs757905032 350 A>P No ExAC
TOPMed
gnomAD
rs757905032 350 A>T No ExAC
TOPMed
gnomAD
rs1183383553 351 K>N No TOPMed
rs1038006307 352 H>R No Ensembl
rs750300915 352 H>Y No ExAC
gnomAD
rs778842588 353 I>V No ExAC
gnomAD
rs753614333 356 H>R No ExAC
gnomAD
rs1586871061 359 V>M No Ensembl
rs1003953580 360 N>S No TOPMed
gnomAD
rs886909920 362 D>V No Ensembl
rs751656609 363 P>A No ExAC
TOPMed
gnomAD
rs1812055382 364 N>D No Ensembl
rs1812055251 364 N>K No gnomAD
rs375870077 365 A>P No ESP
rs773808991 366 R>* No ExAC
gnomAD
rs773808991 366 R>G No ExAC
gnomAD
rs371165328 366 R>L No ESP
ExAC
TOPMed
gnomAD
rs371165328 366 R>P No ESP
ExAC
TOPMed
gnomAD
rs371165328 366 R>Q No ESP
ExAC
TOPMed
gnomAD
rs761773190 369 R>Q No ExAC
TOPMed
gnomAD
rs117139027 369 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768346320 370 D>N No ExAC
TOPMed
gnomAD
rs1812053704 371 L>F No TOPMed
rs375537864 372 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1265020735 372 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1563755626 376 E>G No Ensembl
TCGA novel
rs1812052781
379 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs777021212 379 R>W No ExAC
TOPMed
gnomAD
rs1272692789 380 E>A No TOPMed
gnomAD
rs1212375165 380 E>K No Ensembl
rs771520619 381 Q>E No ExAC
gnomAD
rs745412085 383 T>I No ExAC
TOPMed
gnomAD
rs1333119701 384 K>I No gnomAD
rs778791498 384 K>Q No ExAC
gnomAD
rs2130166350 385 A>G No Ensembl
rs771289632
COSM3648120
COSM3648121
387 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2130150960 388 M>I No Ensembl
rs1444242139 388 M>V No gnomAD
rs758747096 390 S>P No ExAC
gnomAD
rs1811967931 390 S>Y No Ensembl
rs1811967793 391 P>A No Ensembl
rs750522143 391 P>Q No ExAC
gnomAD
rs1419320462 393 L>V No TOPMed
rs145715439 394 K>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145715439 394 K>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs35542230 396 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs764691078 396 R>W No ExAC
gnomAD
rs375939324 398 E>G No ESP
ExAC
TOPMed
gnomAD
rs375939324 398 E>V No ESP
ExAC
TOPMed
gnomAD
rs773997871 399 E>D No ExAC
gnomAD
TCGA novel 401 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4835720
COSM4835719
401 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770290644 402 K>R No ExAC
gnomAD
TCGA novel 403 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1811962666 403 L>V No Ensembl
rs748854849 404 I>M No ExAC
gnomAD
rs1811962390 404 I>V No Ensembl
rs1737639261 406 E>Q No TOPMed
TCGA novel
rs1811961893
407 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs772680018 407 M>L No ExAC
TOPMed
gnomAD
rs369778342 408 T>A No ESP
ExAC
TOPMed
gnomAD
rs754821297 409 V>A No ExAC
TOPMed
gnomAD
rs375476627 409 V>M No ESP
ExAC
TOPMed
gnomAD
rs1811960985 412 E>K No TOPMed
gnomAD
rs1254318117 414 K>R No gnomAD
rs1811960759 415 L>V No Ensembl
COSM605432
COSM605431
rs779216622
418 T>M lung Variant assessed as Somatic; MODERATE impact. endometrium [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2130149807 420 E>K No Ensembl
rs1321185670 424 E>V No gnomAD
rs765928491 425 R>* No ExAC
gnomAD
rs1157129117 425 R>Q No gnomAD
rs1328983825 427 K>* No gnomAD
TCGA novel 428 Q>H Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs187145887 429 L>V No 1000Genomes
ExAC
gnomAD
rs750045090 430 E>* No ExAC
gnomAD
rs764779364 431 S>N No ExAC
gnomAD
rs761426546 434 I>M No ExAC
TOPMed
gnomAD
rs1811745098 434 I>V No TOPMed
TCGA novel 435 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1418551643 436 L>F No TOPMed
gnomAD
rs1189805051 437 Q>K No gnomAD
rs1465816209 438 S>A No TOPMed
gnomAD
rs776668264 439 S>L No ExAC
TOPMed
gnomAD
rs1312399225 443 V>F No TOPMed
gnomAD
rs1312399225 443 V>I No TOPMed
gnomAD
rs929676085 444 G>E No Ensembl
rs760522054 444 G>R No ExAC
gnomAD
rs771053234 445 D>E No ExAC
gnomAD
rs371585117 445 D>H No ESP
ExAC
TOPMed
gnomAD
TCGA novel 446 D>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1404402880 446 D>G No TOPMed
rs749461076 446 D>N No ExAC
gnomAD
rs1318603914 447 K>* No TOPMed
gnomAD
rs1318603914 447 K>Q No TOPMed
gnomAD
rs368623779 448 C>S No ESP
ExAC
TOPMed
gnomAD
rs1178539640 452 N>T No gnomAD
rs1413077789 453 L>P No gnomAD
TCGA novel 457 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs781643536 458 A>P No ExAC
TOPMed
gnomAD
rs781643536 458 A>S No ExAC
TOPMed
gnomAD
rs755531808 458 A>V No ExAC
gnomAD
rs759191313 459 L>N No ExAC
gnomAD
rs550665832 460 N>S No 1000Genomes
ExAC
gnomAD
COSM486374
COSM486373
461 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1346797390 464 V>L No gnomAD
TCGA novel 466 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1290199822 466 Y>S No TOPMed
gnomAD
rs962940284 469 E>D No gnomAD
rs1474616069 469 E>G No TOPMed
gnomAD
rs776752918 470 H>R No ExAC
TOPMed
gnomAD
rs983008837 472 L>F No TOPMed
rs1471452631 472 L>W No gnomAD
rs1249567604 473 I>T No gnomAD
rs866414739 476 A>T No gnomAD
rs1197090261 478 S>C No TOPMed
gnomAD
rs1197090261 478 S>F No TOPMed
gnomAD
rs951526869 480 D>G No Ensembl
rs1811496199 481 I>T No Ensembl
rs769151121 483 L>P No ExAC
gnomAD
rs780443382 485 G>S No ExAC
TOPMed
gnomAD
rs1306717700 486 M>I No gnomAD
rs758745849 486 M>L No ExAC
TOPMed
gnomAD
rs1334272215 486 M>T No gnomAD
COSM1456536
COSM1456537
rs1811495025
487 G>E Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
gnomAD
rs201186759 487 G>R No Ensembl
rs1811495025 487 G>V No gnomAD
rs746255816 488 I>L No ExAC
gnomAD
rs1370317127 488 I>T No TOPMed
gnomAD
rs746255816 488 I>V No ExAC
gnomAD
TCGA novel 489 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2130067277 489 L>V No Ensembl
rs554993674 490 P>S No ExAC
TOPMed
gnomAD
rs1373630003 491 E>G No TOPMed
gnomAD
rs1811494260 491 E>K No TOPMed
rs370408716 493 C>R No ESP
rs958670025 495 I>T No TOPMed
gnomAD
rs377395370 495 I>V No ESP
ExAC
TOPMed
gnomAD
rs752417793 496 D>N No ExAC
TOPMed
gnomAD
rs752417793 496 D>Y No ExAC
TOPMed
gnomAD
rs778864660 498 T>K No ExAC
TOPMed
gnomAD
rs778864660 498 T>M No ExAC
TOPMed
gnomAD
rs778864660 498 T>R No ExAC
TOPMed
gnomAD
rs561198851 500 E>K No gnomAD
rs1265131840 501 G>D No gnomAD
rs1811492571 502 Q>K No TOPMed
rs373090410 502 Q>L No ESP
ExAC
TOPMed
gnomAD
rs373090410 502 Q>R No ESP
ExAC
TOPMed
gnomAD
rs1811492091 503 V>A No TOPMed
gnomAD
rs1468046176 503 V>F No gnomAD
rs1811491986 504 M>T No TOPMed
rs759346506 505 L>M No ExAC
gnomAD
rs774081586 505 L>P No ExAC
TOPMed
gnomAD
rs774081586 505 L>R No ExAC
TOPMed
gnomAD
rs1348781979 507 P>T No TOPMed
gnomAD
COSM1099014
COSM1099016
508 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1309829409 509 K>R No TOPMed
rs370108872 510 N>S No ESP
ExAC
TOPMed
gnomAD
rs370108872 510 N>T No ESP
ExAC
TOPMed
gnomAD
rs377720146 512 R>T No ESP
ExAC
TOPMed
gnomAD
rs369227969 513 T>I No ESP
ExAC
TOPMed
gnomAD
rs1372580071 515 V>I No TOPMed
gnomAD
rs1372580071 515 V>L No TOPMed
gnomAD
rs1811243169 520 V>A No gnomAD
rs1811243308 520 V>L No Ensembl
rs1586846270 522 S>G No Ensembl
rs1255737364 523 P>T No gnomAD
rs754104012 524 I>V No ExAC
TOPMed
gnomAD
rs1811242630 525 Q>E No Ensembl
rs921440927 525 Q>H No TOPMed
gnomAD
TCGA novel 526 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs764185795 527 H>Y No ExAC
TOPMed
gnomAD
rs1811241581 528 H>R No gnomAD
rs1338102896 528 H>Y No gnomAD
rs772639218 530 D>E No ExAC
gnomAD
rs775376576 530 D>G No ExAC
TOPMed
gnomAD
rs1353146685 530 D>H No TOPMed
gnomAD
COSM1099011
COSM1099013
530 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1353146685 530 D>Y No TOPMed
gnomAD
rs760188606 532 I>L No ExAC
gnomAD
rs1409293375 537 N>S No gnomAD
TCGA novel 538 H>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1174078500 543 N>H No gnomAD
rs1157157989 543 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1455719954 545 P>L No gnomAD
rs752960231 547 K>R No ExAC
TOPMed
gnomAD
rs767552972 548 K>N No ExAC
gnomAD
rs1247750926 548 K>T No gnomAD
COSM1099008
COSM1099010
rs769614957
549 K>N Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs960188435 549 K>R No TOPMed
gnomAD
rs775037511 551 A>E No ExAC
gnomAD
rs771524087
COSM270767
553 R>* large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
COSM750742
COSM750741
553 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763432345 553 R>Q No ExAC
TOPMed
gnomAD
TCGA novel 554 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1251615901 555 D>G No TOPMed
gnomAD
rs1345486265 557 D>E No TOPMed
gnomAD
rs1811172659 558 Q>E No Ensembl
rs1811172540 559 D>Y No TOPMed
gnomAD
rs868554153 560 P>H No TOPMed
gnomAD
rs868554153 560 P>L No TOPMed
gnomAD
rs773388574 560 P>S No ExAC
TOPMed
gnomAD
rs1370242088 561 S>C No gnomAD
rs1586844103 562 M>T No TOPMed
rs1168037660 563 K>M No TOPMed
gnomAD
rs1168037660 563 K>R No TOPMed
gnomAD
rs747376298 564 N>K No ExAC
TOPMed
gnomAD
COSM5005280
rs780881097
COSM5005279
565 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1465883481 566 N>K No gnomAD
rs200170374 567 S>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200170374 567 S>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs536296566 568 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs779992016 569 E>K No ExAC
gnomAD
rs1426311880 572 D>G No gnomAD
rs1175988261 574 D>N No gnomAD
rs370864469 575 G>R No ESP
ExAC
TOPMed
gnomAD
rs1208589568 575 G>V No gnomAD
rs1486581387 576 D>G No gnomAD
rs891802246 577 S>A No Ensembl
rs1811169121 577 S>F No Ensembl
rs1052272064 578 S>A No Ensembl
rs1811168847 578 S>F No TOPMed
rs1811168734 579 S>G No TOPMed
rs1811168598 579 S>I No TOPMed
rs922422712 580 E>G No TOPMed
rs778641038 580 E>K No ExAC
TOPMed
gnomAD
rs1442719645 581 V>L No TOPMed
gnomAD
rs1040905926 583 S>G No TOPMed
gnomAD
rs757062041 584 E>D No ExAC
TOPMed
gnomAD
rs74341557 585 V>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2130001606 585 V>I No Ensembl
rs755138971 586 N>K No ExAC
TOPMed
gnomAD
rs1811166697 590 E>K No TOPMed
COSM294506 592 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1811166111 593 Q>* No TOPMed
rs748631046 593 Q>R No Ensembl
rs574974074 596 V>G No 1000Genomes
rs1280810583 597 T>I No TOPMed
gnomAD
rs762211309 598 M>T No ExAC
gnomAD
rs1429720609 600 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1024856511 600 A>V No TOPMed
rs1811164711 601 L>V No Ensembl
rs1354784855 602 G>D No gnomAD
rs1811164314 603 S>N No TOPMed
rs377611054 603 S>R No ESP
ExAC
TOPMed
gnomAD
rs972978590 604 N>S No TOPMed
gnomAD
COSM1212359
COSM1212358
rs750470565
606 P>L large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs758444220 606 P>S No ExAC
gnomAD
rs1811114955 610 I>M No TOPMed
gnomAD
rs1298125778 610 I>V No TOPMed
gnomAD
rs6986672 614 L>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1387021346 616 Q>E No TOPMed
gnomAD
rs764501247 616 Q>R No ExAC
gnomAD
rs761007310 617 Q>K No ExAC
gnomAD
rs2129991609 618 H>R No Ensembl
rs1811113658 619 E>G No TOPMed
rs1412315553 623 R>* No gnomAD
COSM4695903
rs1416549201
COSM4695902
623 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1811112968 626 L>V No TOPMed
rs1811112837 627 E>D No TOPMed
rs769742692
COSM3899490
COSM3899489
628 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
COSM1099004
rs752388020
COSM1099002
628 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369593806 629 Q>R No ESP
ExAC
gnomAD
rs1334415136 632 M>I No TOPMed
gnomAD
rs1211964013 632 M>T No gnomAD
COSM1099001
COSM1098999
635 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763012855
COSM1456534
COSM1456535
636 E>K Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 638 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1442279282 641 R>Q No TOPMed
gnomAD
COSM1331027
COSM1331026
rs1306830181
641 R>W ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1373896845 642 R>K No gnomAD
TCGA novel 643 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs769757334 643 R>S No ExAC
TOPMed
gnomAD
rs1439571543 644 L>V No gnomAD
rs780450879 645 S>C No ExAC
TOPMed
gnomAD
rs780450879 645 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1451286934 646 P>S No gnomAD
rs565462520 648 K>R No 1000Genomes
ExAC
gnomAD
rs986235822 649 Q>E No Ensembl
rs779119570 649 Q>H No ExAC
gnomAD
rs757272844 651 C>W No ExAC
TOPMed
gnomAD
TCGA novel 652 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs778223174 652 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs754394313 652 R>W No ExAC
TOPMed
gnomAD
rs1207121901 653 S>I No gnomAD
rs1207121901 653 S>T No gnomAD
rs756503292 654 M>K No ExAC
TOPMed
gnomAD
rs1485051821 654 M>L No gnomAD
rs1811108034 655 D>Y No TOPMed
gnomAD
rs142971472 656 R>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs1460933106 658 S>F No gnomAD
rs767089325 658 S>P No ExAC
TOPMed
gnomAD
rs1811107193 660 H>R No gnomAD
rs751166000 660 H>Y No ExAC
TOPMed
gnomAD
rs200956809 661 S>* No ESP
ExAC
TOPMed
gnomAD
rs200956809 661 S>L No ESP
ExAC
TOPMed
gnomAD
rs374533712 662 P>L No ESP
TOPMed
gnomAD
rs761718096 662 P>S No ExAC
gnomAD
rs2129989972 663 S>C No 1000Genomes
rs768334452 664 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1373710154 665 Q>E No gnomAD
TCGA novel 665 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1811105570 666 Q>E No TOPMed
gnomAD
rs1811105444 666 Q>H No Ensembl
rs1195486165 667 R>C No gnomAD
rs1195486165 667 R>G No gnomAD
rs573311825 667 R>H No 1000Genomes
ExAC
TOPMed
rs1426937926 668 L>V No gnomAD
rs1470472689 670 Q>* No Ensembl
rs1470472689 670 Q>E No Ensembl
rs1015411999 671 W>* No TOPMed
gnomAD
rs2129989578 671 W>R No 1000Genomes
rs1261348356 672 A>D No TOPMed
gnomAD
rs1261348356 672 A>V No TOPMed
gnomAD
rs1811103792 673 E>G No TOPMed
rs1211991763 673 E>K No gnomAD
rs1008738684 676 E>G No TOPMed
gnomAD
rs376936122 677 A>T No ESP
ExAC
TOPMed
gnomAD
rs769858692 677 A>V No ExAC
gnomAD
rs1470737351 678 T>A No TOPMed
gnomAD
rs781525515 678 T>K No ExAC
TOPMed
gnomAD
rs781525515 678 T>M No ExAC
TOPMed
gnomAD
rs1811066918 680 N>D No gnomAD
rs747292009 680 N>S No ExAC
TOPMed
gnomAD
rs1811066520 681 N>D No gnomAD
rs749799843 681 N>I No ExAC
gnomAD
rs749799843 681 N>T No ExAC
gnomAD
rs1811065984 682 S>G No TOPMed
rs1811065568 682 S>N No Ensembl
rs1811065442 683 L>P No TOPMed
rs750099215 684 M>V No ExAC
gnomAD
rs2129982007 685 R>K No Ensembl
rs1224083379 688 E>D No TOPMed
gnomAD
rs1291937669 690 I>F No TOPMed
gnomAD
rs1291937669 690 I>V No TOPMed
gnomAD
rs1352587020 693 A>S No TOPMed
gnomAD
rs1352587020 693 A>T No TOPMed
gnomAD
rs1811064256 693 A>V No gnomAD
rs1811064140 694 N>S No TOPMed
gnomAD
rs1164361783 695 L>Q No TOPMed
rs1277630291 695 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs753856156 697 V>A No ExAC
gnomAD
rs1326637296 697 V>L No TOPMed
gnomAD
rs1811063114 698 R>T No TOPMed
rs1328066135 700 A>S No gnomAD
rs1327348639 703 I>T No TOPMed
gnomAD
rs994825623 703 I>V No TOPMed
gnomAD
rs760541731 704 A>S No ExAC
TOPMed
gnomAD
rs760541731 704 A>T No ExAC
TOPMed
gnomAD
rs2129981270 706 E>* No 1000Genomes
rs373789822 708 D>G No ESP
ExAC
TOPMed
gnomAD
rs763228452 710 R>I No ExAC
gnomAD
rs1396249124 712 E>Q No gnomAD
rs2129981146 712 E>V No Ensembl
rs1811061300 713 Y>C No TOPMed
rs1466767686 716 T>I No gnomAD
rs1586840335 716 T>P No Ensembl
TCGA novel 717 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs188349891 719 I>M No 1000Genomes
TOPMed
gnomAD
rs1357995758 720 P>A No TOPMed
rs1202956051 722 S>F No TOPMed
gnomAD
rs1171545299 723 S>C No gnomAD
rs748192834 725 D>Y No ExAC
TOPMed
gnomAD
rs1811059843 727 N>S No TOPMed
rs777224705 729 K>* No ExAC
gnomAD
rs768990907 729 K>R No ExAC
gnomAD
rs1352269446 730 R>* No gnomAD
rs765456431 730 R>L No ExAC
gnomAD
rs765456431 730 R>Q No ExAC
gnomAD
rs1419620661 731 G>D No gnomAD
rs370214797 732 S>C No ESP
ExAC
TOPMed
gnomAD
rs370214797 732 S>F No ESP
ExAC
TOPMed
gnomAD
rs1162476711 732 S>P No gnomAD
rs1810851081 734 L>I No TOPMed
rs1408546453 734 L>P No gnomAD
rs1810850665 737 P>S No TOPMed
rs764132350 739 I>V No ExAC
TOPMed
gnomAD
rs760781867 741 V>M No ExAC
TOPMed
gnomAD
rs2129942732 744 K>E No Ensembl
rs1183560285 745 G>R No TOPMed
rs1810849415 746 K>R No Ensembl
TCGA novel 747 G>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1444725991 749 Q>R No gnomAD
rs1248445948 750 I>M No TOPMed
rs772658959 752 S>F No ExAC
TOPMed
gnomAD
rs375884523 752 S>P No ESP
TOPMed
gnomAD
rs867925689 753 L>S No Ensembl
rs774791887 755 K>R No ExAC
gnomAD
rs372624834 759 R>G No ESP
ExAC
gnomAD
rs1382470110 759 R>K No TOPMed
rs772898747 759 R>S No ExAC
TOPMed
gnomAD
rs79504420 762 D>G No Ensembl
rs1810846724 764 R>G No TOPMed
COSM3432334
COSM3432333
765 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs769227570 766 L>F No ExAC
TOPMed
gnomAD
rs769227570 766 L>V No ExAC
TOPMed
gnomAD
rs1457159509 768 Q>H No TOPMed
gnomAD
rs544708178 768 Q>R No 1000Genomes
rs1364156216 769 E>* No gnomAD
rs1810845934 771 K>E No TOPMed
rs781126671 772 E>D No ExAC
TOPMed
gnomAD
rs896960113 772 E>V No TOPMed
gnomAD
rs1036829044 773 C>F No TOPMed
gnomAD
rs1810845164 773 C>W No Ensembl
COSM454417
COSM454416
774 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 775 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs779885612 776 D>G No ExAC
gnomAD
rs746809012 776 D>N No ExAC
TOPMed
gnomAD
rs1393656800 777 N>D No TOPMed
gnomAD
rs758192831 777 N>K No ExAC
TOPMed
gnomAD
rs1810844281 778 P>L No Ensembl
rs1810844410 778 P>S No TOPMed
gnomAD
rs1005077444 779 V>A No TOPMed
gnomAD
COSM750751
COSM750752
779 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 780 I>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1326613326 781 R>* No TOPMed
gnomAD
rs1326613326 781 R>G No TOPMed
gnomAD
rs758163466 781 R>P No ExAC
TOPMed
gnomAD
rs758163466 781 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1586832338 782 S>P No TOPMed
rs1339602148 783 Y>C No gnomAD
rs1810773988 784 F>L No Ensembl
rs1810774112 784 F>V No TOPMed
rs1810773861 785 K>R No TOPMed
rs756295667 786 R>C No ExAC
TOPMed
gnomAD
rs367974470 786 R>H No ESP
ExAC
TOPMed
gnomAD
rs1810773386 787 A>V No Ensembl
rs1220345843 789 P>L No TOPMed
gnomAD
rs868353564 789 P>S No TOPMed
rs868353564 789 P>T No TOPMed
rs1465623549 791 Y>C No TOPMed
gnomAD
rs1465623549 791 Y>S No TOPMed
gnomAD
rs752151726 795 E>K No ExAC
TOPMed
gnomAD
rs766868111 796 N>S No ExAC
gnomAD
rs763246326 797 H>D No ExAC
TOPMed
gnomAD
rs1249247433 797 H>Q No TOPMed
gnomAD
rs763246326 797 H>Y No ExAC
TOPMed
gnomAD
rs926239473 799 L>F No TOPMed
gnomAD
rs926239473 799 L>V No TOPMed
gnomAD
rs764798594 800 I>T No ExAC
TOPMed
gnomAD
rs566501978 800 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3648115
COSM3648114
801 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 802 V>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1254724509 802 V>L No gnomAD
rs200010537 804 N>S No ESP
ExAC
TOPMed
gnomAD
rs760142586 807 L>F No ExAC
gnomAD
rs771987927 808 E>G No ExAC
gnomAD
rs1004803364 808 E>K No TOPMed
gnomAD
rs778837454 810 L>F No ExAC
gnomAD
rs371398948 810 L>H No ESP
ExAC
TOPMed
gnomAD
rs778837454 810 L>V No ExAC
gnomAD
rs781532057 811 F>C No ExAC
TOPMed
gnomAD
rs748428969 811 F>I No ExAC
gnomAD
rs781532057 811 F>S No ExAC
TOPMed
gnomAD
rs751607607 812 Y>C No ExAC
TOPMed
gnomAD
rs755139179 812 Y>H No ExAC
gnomAD
rs780435093 814 V>M No ExAC
TOPMed
gnomAD
rs1397404726 818 Y>H No TOPMed
gnomAD
rs762137974 819 A>P No ExAC
TOPMed
gnomAD
rs762137974 819 A>T No ExAC
TOPMed
gnomAD
rs1239457344 820 V>I No TOPMed
gnomAD
rs987371367 821 P>A No TOPMed
rs760195704 822 I>F No ExAC
gnomAD
rs760195704 822 I>V No ExAC
gnomAD
rs1457019458 823 I>V No gnomAD
rs1810766903 824 N>D No Ensembl
rs1234840182 824 N>S No TOPMed
gnomAD
TCGA novel 826 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1563734402 826 K>Q No Ensembl
rs759577444 827 G>E No ExAC
rs1024169681 827 G>R No gnomAD
rs1810766063 828 E>D No TOPMed
gnomAD
COSM3648108
COSM3648109
832 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1810750265 833 L>Q No Ensembl
rs112481059 835 V>L No ESP
TOPMed
gnomAD
rs112481059 835 V>M No ESP
TOPMed
gnomAD
rs1586831592 837 V>G No Ensembl
rs1348577782 838 M>I No gnomAD
rs757698662 838 M>L No ExAC
gnomAD
rs757698662 838 M>V No ExAC
gnomAD
COSM5482958
rs1279400074
COSM5482957
839 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1221058237 839 R>L No TOPMed
gnomAD
rs1221058237 839 R>Q No TOPMed
gnomAD
COSM1098996
COSM1098998
840 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1810748710 840 L>V No gnomAD
rs1255385311 841 S>R No TOPMed
gnomAD
rs749791838 841 S>T No ExAC
gnomAD
rs778170049 842 G>S No ExAC
rs756413071 843 D>N No ExAC
TOPMed
gnomAD
rs1342764895 844 V>A No TOPMed
gnomAD
rs1342764895 844 V>D No TOPMed
gnomAD
rs752432739 844 V>F No ExAC
gnomAD
rs752432739
COSM321226
COSM321227
844 V>I lung [Cosmic] No cosmic curated
ExAC
gnomAD
rs1399905993 847 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1439544762 847 R>S No TOPMed
gnomAD
TCGA novel 848 I>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs754537721 849 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1012214797 851 G>D No gnomAD
rs766419855 852 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1168141885 853 E>D No gnomAD
rs1810745683 853 E>K No Ensembl
rs1810745427 854 V>A No gnomAD
rs1478637697
COSM1456532
COSM1456533
855 A>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA
gnomAD
rs763048072 855 A>V No ExAC
gnomAD
TCGA novel 856 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs931892075 856 E>G No TOPMed
TCGA novel 856 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs987749124 856 E>Q No TOPMed
rs1586831404 857 V>G No Ensembl
rs773265419 857 V>I No ExAC
gnomAD
rs1239170118 861 K>N No TOPMed
gnomAD
TCGA novel
rs1810743847
862 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs373472045 862 E>K No ESP
ExAC
TOPMed
gnomAD
rs1310535250 863 T>I No TOPMed
gnomAD
rs775807277 864 Q>R No ExAC
gnomAD
rs2129922084 865 E>* No Ensembl
rs745969894 866 N>I No ExAC
gnomAD
rs1000402231 868 L>P No TOPMed
gnomAD
rs770986907 871 M>R No ExAC
gnomAD
rs770986907 871 M>T No ExAC
gnomAD
rs1305124823 871 M>V No TOPMed
gnomAD
COSM5071800 873 K>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 875 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1369583776 875 L>P No TOPMed
gnomAD
rs1810463818 877 A>P No TOPMed
gnomAD
TCGA novel 878 T>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1287397147 878 T>S No gnomAD
rs978594772 879 G>A No Ensembl
TCGA novel 881 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3996017
rs1586823542
COSM3996018
882 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1810463204 883 H>D No Ensembl
rs769047547 884 L>V No ExAC
TOPMed
gnomAD
rs2129860800 887 F>L No Ensembl
rs1307965845 887 F>V No gnomAD
rs1386964469 889 F>S No gnomAD
rs2129860739 892 Y>* No Ensembl
rs779818888 893 S>G No ExAC
TOPMed
gnomAD
rs758007504 893 S>N No ExAC
gnomAD
rs749898567 894 F>L No ExAC
gnomAD
rs749898567 894 F>V No ExAC
gnomAD
rs778917526 898 Q>R No ExAC
gnomAD
rs1160387859 900 P>L No TOPMed
gnomAD
rs1810461484 901 V>L No TOPMed
rs1378537317 903 V>A No gnomAD
rs751813268 904 A>T No ExAC
TOPMed
gnomAD
TCGA novel 904 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs766537790 908 D>G No ExAC
gnomAD
rs1037741101 910 S>F No TOPMed
rs1810460281 911 S>A No Ensembl
rs1563729301 913 S>* No Ensembl
rs1810459797 913 S>T No TOPMed
rs368397416
COSM1212368
COSM1212369
914 V>I large_intestine [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1810459163 916 K>R No TOPMed
rs1810458570 918 P>L No TOPMed
rs1810458726 918 P>S No gnomAD
rs747335455 919 H>R No ExAC
TOPMed
gnomAD
rs1418576149 920 C>Y No TOPMed
gnomAD
rs1385957045 921 M>I No gnomAD
rs779868044 922 V>I No ExAC
gnomAD
COSM3834549
rs771787654
COSM3834548
926 H>D breast [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs771787654 926 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs745515201 927 C>G No ExAC
TOPMed
gnomAD
rs745515201 927 C>R No ExAC
TOPMed
gnomAD
rs1810457317 928 N>D No Ensembl
rs1810457197 928 N>S No TOPMed
rs1372952252 929 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1426146299 930 F>L No gnomAD
rs774027573 930 F>S No ExAC
TOPMed
gnomAD
rs774027573 930 F>Y No ExAC
TOPMed
gnomAD
rs1810388117 931 S>F No gnomAD
rs770382593 932 V>F No ExAC
gnomAD
rs1810387596 933 N>K No Ensembl
rs1457894146 933 N>T No TOPMed
gnomAD
rs777583082 934 I>L No ExAC
TOPMed
gnomAD
rs755976005 934 I>M No ExAC
TOPMed
gnomAD
rs777583082 934 I>V No ExAC
TOPMed
gnomAD
rs1810386787 936 E>D No Ensembl
rs781018631 936 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs781018631 936 E>Q No ExAC
TOPMed
gnomAD
COSM1098992
rs1310607769
COSM1098990
940 E>K Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1810386168 941 H>Q No Ensembl
rs765457282 941 H>R No ExAC
gnomAD
rs750650455 941 H>Y No ExAC
gnomAD
rs1333636217 942 L>F No gnomAD
rs757303778 943 S>P No ExAC
gnomAD
rs1810385800 943 S>Y No Ensembl
rs764266402 944 E>* No ExAC
TOPMed
gnomAD
COSM750756
rs764266402
COSM750755
944 E>K lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1810385204 946 A>P No Ensembl
rs1474046979 946 A>V No TOPMed
gnomAD
rs1810384547 948 A>G No gnomAD
rs145324154 948 A>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145324154 948 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1810384547 948 A>V No gnomAD
rs771358165 949 I>V No ExAC
gnomAD
rs1436929424 951 V>A No gnomAD
rs1176377601 951 V>I No gnomAD
rs2129841951 954 H>R No Ensembl
rs772772694 954 H>Y No ExAC
TOPMed
gnomAD
rs769276006 956 I>M No ExAC
gnomAD
rs1810383155 958 D>E No gnomAD
rs993755183 958 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs768469903 960 R>G No ExAC
TOPMed
gnomAD
rs746767801 960 R>Q No ExAC
TOPMed
gnomAD
rs768469903
COSM1098987
COSM1098989
960 R>W endometrium [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1810382397 961 K>E No Ensembl
TCGA novel 962 N>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM3899483
COSM3899484
962 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1810382008 963 P>L No TOPMed
rs757567413 963 P>S No ExAC
gnomAD
rs12549991 964 A>P No ExAC
TOPMed
gnomAD
COSM1098986
COSM184722
rs12549991
964 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
rs1420894873 965 L>V No TOPMed
gnomAD
rs1810381324 967 D>G No TOPMed
TCGA novel 975 T>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs756236026 976 R>C No ExAC
TOPMed
gnomAD
COSM3899481
COSM3899482
rs887441990
976 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs768092145 979 R>Q No ExAC
gnomAD
COSM1489223
rs753292093
COSM1489222
979 R>W Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs2129840889 981 R>I No Ensembl
rs1283011788 982 W>* No gnomAD
rs1563726520 982 W>L No Ensembl
rs577422742 983 S>G No 1000Genomes
ExAC
gnomAD
rs752769205 983 S>N No ExAC
gnomAD
rs2129822358 984 E>K No Ensembl
rs755573729 985 V>A No ExAC
TOPMed
gnomAD
rs766812686 989 L>F No ExAC
TOPMed
gnomAD
rs2129822081 991 F>L No Ensembl
rs1810302015 991 F>S No gnomAD
rs1213569642 992 W>* No TOPMed
rs1267528238 993 V>A No TOPMed
rs1404929614 993 V>I No gnomAD
COSM4485858
COSM4485857
995 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1171074566 996 L>F No gnomAD
rs2129821899 997 E>K No Ensembl
COSM750757
COSM750758
998 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1478682942 1000 E>D No gnomAD
COSM1456528
COSM1456529
1001 N>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs372420177 1001 N>S No ESP
ExAC
TOPMed
gnomAD
rs764819784 1005 C>* No ExAC
TOPMed
gnomAD
rs1473122222 1005 C>S No gnomAD
rs776192212 1007 V>I No ExAC
gnomAD
rs768040042 1008 E>* No ExAC
gnomAD
rs1015645347 1008 E>A No TOPMed
gnomAD
rs971474919 1010 I>V No Ensembl
rs368227895 1012 A>V No ESP
ExAC
TOPMed
gnomAD
rs1810299605 1013 K>R No Ensembl
TCGA novel 1015 V>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1810299222 1016 P>R No TOPMed
gnomAD
rs771936727 1016 P>S No ExAC
gnomAD
rs1380592611 1017 T>A No TOPMed
gnomAD
rs1285399633 1017 T>I No gnomAD
rs1380592611 1017 T>P No TOPMed
gnomAD
rs1810298650 1018 G>R No gnomAD
rs770077106 1020 I>V No ExAC
gnomAD
COSM3648104
COSM3648105
1022 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs754987193 1024 R>Q No ExAC
gnomAD
COSM1456526
rs781387599
COSM1456527
1024 R>W Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1025 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1810154625 1027 Q>R No TOPMed
rs1351491411 1028 S>Y No gnomAD
rs200834673 1029 R>Q No ExAC
TOPMed
gnomAD
rs186826032 1029 R>W No 1000Genomes
ExAC
TOPMed
gnomAD
rs774358524 1031 V>A No ExAC
gnomAD
rs1159382252 1032 Q>K No gnomAD
rs1586815058 1034 E>A No Ensembl
COSM1098984
COSM1098982
1034 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs548563840 1034 E>K No TOPMed
gnomAD
rs548563840 1034 E>Q No TOPMed
gnomAD
COSM4414562
COSM4414563
1038 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1810152634 1038 V>M No Ensembl
rs1810152513 1039 Q>P No TOPMed
gnomAD
rs1489018645 1041 S>T No gnomAD
rs776681784 1044 L>S No ExAC
gnomAD
rs1810151576 1048 E>G No TOPMed
rs1235714674 1049 E>K No Ensembl
COSM4394040
COSM4394039
rs1241710070
1050 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs768808287 1052 L>M No ExAC
gnomAD
rs1433090450 1054 V>I No gnomAD
rs1433090450 1054 V>L No gnomAD
rs1810150517 1056 I>F No TOPMed
rs780623353 1056 I>N No ExAC
TOPMed
gnomAD
rs780623353 1056 I>T No ExAC
TOPMed
gnomAD
TCGA novel 1059 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs758834666 1059 V>I No ExAC
gnomAD
rs1810149694 1060 K>N No TOPMed
rs1231884995 1062 R>T No TOPMed
gnomAD
rs1301109730 1063 P>L No TOPMed
gnomAD
rs1810148569 1066 A>G No TOPMed
rs1810148716 1066 A>T No TOPMed
rs1810148569 1066 A>V No TOPMed
rs1810148431 1067 P>S No TOPMed
rs374281215 1068 R>K No ESP
ExAC
TOPMed
gnomAD
rs763608396 1070 H>R No ExAC
TOPMed
gnomAD
rs905792000 1070 H>Y No Ensembl
TCGA novel 1070 H>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1021427927 1071 E>A No gnomAD
rs755667406 1071 E>D No ExAC
TOPMed
gnomAD
rs2129787243 1072 T>A No 1000Genomes
rs1455588526 1074 H>P No TOPMed
gnomAD
rs1810116158 1075 E>K No Ensembl
rs1810116042 1076 E>K No Ensembl
rs370981148 1080 M>V No ESP
ExAC
TOPMed
gnomAD
rs1810001483 1086 R>* No Ensembl
rs539457354 1086 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs1423609197 1088 L>* No TOPMed
gnomAD
rs1810000946 1089 E>G No TOPMed
rs1303443570 1090 R>T No TOPMed
rs771282128 1092 R>C No ExAC
TOPMed
gnomAD
rs759564273
COSM1489220
COSM1489221
1092 R>H Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1390034917 1094 K>E No gnomAD
rs2129754404 1094 K>N No Ensembl
rs1269338608 1097 N>D No TOPMed
rs1412642018 1100 T>A No TOPMed
gnomAD
rs749799694 1100 T>I No ExAC
gnomAD
rs749799694 1100 T>K No ExAC
gnomAD
rs1809999076 1101 K>E No TOPMed
rs1563721309 1102 R>C No Ensembl
rs778060352
COSM3929533
COSM3929532
1102 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770170380 1103 Q>R No ExAC
TOPMed
gnomAD
rs747792577 1104 E>A No ExAC
gnomAD
rs754553518 1109 Q>R No ExAC
TOPMed
gnomAD
rs1008332168 1110 L>F No Ensembl
rs1437028786 1111 Q>E No TOPMed
gnomAD
rs1437028786 1111 Q>K No TOPMed
gnomAD
COSM1098979
COSM1098981
1112 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs780144243 1114 V>I No ExAC
TOPMed
gnomAD
rs780144243 1114 V>L No ExAC
TOPMed
gnomAD
rs1809996992 1115 S>N No Ensembl
rs747569217 1117 R>C No ExAC
TOPMed
gnomAD
rs947207603
COSM1212362
COSM1212363
1117 R>H large_intestine [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1203582120 1118 D>G No TOPMed
gnomAD
TCGA novel 1118 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs371574802 1119 K>I No ESP
ExAC
TOPMed
gnomAD
COSM4925717
COSM4925718
1122 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1243190732 1123 D>A No TOPMed
rs1344099166 1124 A>G No TOPMed
gnomAD
rs1401204056 1125 D>E No gnomAD
rs745825145 1126 R>C No ExAC
TOPMed
gnomAD
rs745825145 1126 R>G No ExAC
TOPMed
gnomAD
COSM3648103
rs778861935
COSM3648102
1126 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778861935 1126 R>L No ExAC
TOPMed
gnomAD
rs745825145 1126 R>S No ExAC
TOPMed
gnomAD
TCGA novel 1128 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs369600599 1128 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372335072 1129 Q>H No ESP
TOPMed
gnomAD
rs1354529304 1132 E>D No gnomAD
TCGA novel 1132 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs979231279 1133 M>T No TOPMed
gnomAD
rs755254258 1134 R>Q No ExAC
TOPMed
gnomAD
COSM245270
rs186117987
1134 R>W prostate [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1020789846 1137 L>I No gnomAD
rs1020789846 1137 L>V No gnomAD
rs1191142704 1138 T>A No gnomAD
rs766406923
COSM271341
COSM3698714
1143 A>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3899479
rs763045827
COSM3899480
1143 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
TCGA novel 1144 V>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1563720626 1144 V>M No Ensembl
rs1809964509 1145 M>V No gnomAD
rs1215634040 1146 V>F No gnomAD
rs1364729620 1147 P>S No TOPMed
gnomAD
rs1364729620 1147 P>T No TOPMed
gnomAD
rs369903381 1149 A>T No Ensembl
rs1429423049 1151 S>T No gnomAD
rs1809963609 1152 G>R No Ensembl
rs1340647020 1153 I>T No gnomAD
rs1338277873 1154 P>A No TOPMed
gnomAD
rs1467969961 1156 A>S No gnomAD
rs1405046468 1157 P>A No gnomAD
TCGA novel
rs1809962725
1158 A>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1452476271 1159 E>G No TOPMed
gnomAD
rs1370900636 1161 T>I No TOPMed
gnomAD
rs1370900636 1161 T>N No TOPMed
gnomAD
rs1225170775 1161 T>S No gnomAD
TCGA novel 1162 P>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs373318729 1162 P>S No ESP
TOPMed
gnomAD
rs1809924947 1164 P>R No TOPMed
rs775020582 1166 M>V No ExAC
TOPMed
gnomAD
COSM271936 1167 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1160099694 1167 E>D No gnomAD
rs370420261 1167 E>G No ESP
ExAC
TOPMed
gnomAD
rs1809924201 1168 T>R No TOPMed
rs759109548 1169 H>D No ExAC
TOPMed
gnomAD
rs1406213196 1169 H>Q No TOPMed
gnomAD
rs759109548 1169 H>Y No ExAC
TOPMed
gnomAD
rs1433707066 1170 I>V No TOPMed
gnomAD
TCGA novel 1172 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs773971616 1172 V>I No ExAC
gnomAD
rs1481026194 1173 I>T No gnomAD
rs2129738317 1176 D>E No Ensembl
rs770410591 1176 D>N No ExAC
gnomAD
rs761127372 1179 A>D No ExAC
gnomAD
rs975836913 1180 D>G No TOPMed
gnomAD
rs376733489 1180 D>N No ESP
ExAC
TOPMed
gnomAD
rs376733489 1180 D>Y No ESP
ExAC
TOPMed
gnomAD
rs1809732123 1181 D>E No TOPMed
gnomAD
rs2129697783 1181 D>N No Ensembl
rs557959639 1182 F>S No 1000Genomes
rs1284836248 1183 S>T No TOPMed
gnomAD
rs1269754390 1184 S>P No gnomAD
TCGA novel 1190 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1320123538 1190 D>N No gnomAD
rs1408719031 1191 P>L No gnomAD
TCGA novel 1191 P>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs773848274 1191 P>S No ExAC
gnomAD
rs773848274 1191 P>T No ExAC
gnomAD
rs1809730849 1193 A>G No TOPMed
rs1174784751 1193 A>P No TOPMed
gnomAD
rs770463620 1195 G>R No ExAC
TOPMed
gnomAD
rs1426208158 1197 D>H No TOPMed
gnomAD
rs1426208158 1197 D>N No TOPMed
gnomAD
rs1278099723 1197 D>V No TOPMed
gnomAD
COSM1331028
COSM1331029
rs965661459
1198 A>E ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
gnomAD
rs965661459 1198 A>V No gnomAD
rs1563717010 1202 G>E No Ensembl
rs1210728101 1204 E>Q No TOPMed
rs1461376417 1205 E>G No gnomAD
rs1462418137 1205 E>K No gnomAD
rs1809728358 1206 E>* No TOPMed
TCGA novel 1206 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1643779177 1206 E>G No TOPMed
gnomAD
rs1643779177 1206 E>V No TOPMed
gnomAD
rs1809727921 1207 E>D No Ensembl
rs1239330846 1208 F>I No TOPMed
rs1239330846 1208 F>V No TOPMed
rs372213370 1209 F>S No ESP
TOPMed
rs1007784849 1210 E>D No gnomAD
TCGA novel 1210 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1809727178 1212 Q>* No TOPMed
rs768312001 1212 Q>H No ExAC
gnomAD
rs746142189 1213 I>V No ExAC
TOPMed
gnomAD
rs1809726726 1214 V>L No TOPMed
rs1381110404 1215 K>N No TOPMed
rs778961887 1217 H>D No ExAC
rs1809726281 1217 H>P No gnomAD
rs1809726281 1217 H>R No gnomAD
rs753904519 1218 D>A No ExAC
gnomAD
rs753904519 1218 D>G No ExAC
gnomAD
rs1297012294 1219 G>A No gnomAD
rs1441937748 1219 G>R No TOPMed
gnomAD
rs1017827737 1220 E>V No TOPMed
rs907831530 1221 V>A No TOPMed
gnomAD
rs907831530 1221 V>G No TOPMed
gnomAD
rs974232785 1221 V>L No TOPMed
gnomAD
rs758101383 1224 E>* No ExAC
gnomAD
rs750054842 1225 A>S No ExAC
TOPMed
gnomAD
rs750054842 1225 A>T No ExAC
TOPMed
gnomAD
rs764108568 1226 S>F No TOPMed
gnomAD
rs1211347611 1226 S>P No TOPMed
gnomAD
rs1563715424 1227 W>* No Ensembl
rs1809633383 1228 D>V No Ensembl
rs776651773 1230 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs367974170 1230 A>V No ESP
ExAC
TOPMed
gnomAD
rs1273670588 1233 G>S No gnomAD
rs749564397 1236 Q>* No ExAC
TOPMed
gnomAD
COSM3648100
COSM3648101
1236 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1809632056 1237 L>R No TOPMed
rs773532755 1239 R>K No ExAC
gnomAD
rs769943486 1239 R>S No ExAC
gnomAD
rs1223678476 1240 G>V No gnomAD
rs748115588 1241 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1809630818 1242 P>H No Ensembl
rs755501198 1242 P>S No ExAC
gnomAD
rs2129674259 1243 V>A No Ensembl
rs780444269 1243 V>M No ExAC
TOPMed
gnomAD
rs1809630277 1244 D>Y No gnomAD
rs750106779 1245 E>* No ExAC
TOPMed
gnomAD
rs1286631144 1245 E>G No gnomAD
rs750106779 1245 E>K No ExAC
TOPMed
gnomAD
rs756797507 1246 R>Q No ExAC
TOPMed
gnomAD
rs192711591 1246 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1469015622 1247 L>F No TOPMed
rs1336922072 1248 F>L No TOPMed
gnomAD
rs561557672 1251 V>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs1273689981 1252 R>C No TOPMed
gnomAD
rs201358234 1252 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1253 V>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs377066371 1253 V>A No ESP
ExAC
TOPMed
gnomAD
TCGA novel 1253 V>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs753108980 1253 V>L No ExAC
TOPMed
gnomAD
rs753108980 1253 V>M No ExAC
TOPMed
gnomAD
rs1181614847 1254 T>A No TOPMed
gnomAD
rs372464024 1254 T>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372464024 1254 T>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs912575096 1256 Q>H No TOPMed
gnomAD
rs944048949 1256 Q>R No TOPMed
rs762086583 1257 L>F No ExAC
gnomAD
rs1424384992 1258 S>G No gnomAD
rs12678871 1258 S>I No Ensembl
rs1407840797 1259 H>Q No TOPMed
gnomAD
rs768756951
TCGA novel
1263 M>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
ExAC
TOPMed
gnomAD
rs1809625054 1263 M>T No TOPMed
rs768756951 1263 M>V No ExAC
TOPMed
gnomAD
rs747553029 1264 Q>E No ExAC
gnomAD
rs372689337 1264 Q>H No ESP
ExAC
TOPMed
gnomAD
rs375451644 1268 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3899472
COSM3899471
rs374014840
1268 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM275728 1270 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs753509697 1272 C>F No 1000Genomes
ExAC
gnomAD
rs753509697 1272 C>S No 1000Genomes
ExAC
gnomAD
rs36068949 1274 N>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000975184
rs36068949
1274 N>S No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1586800471 1276 H>P No Ensembl
rs375966959 1276 H>Q No ESP
ExAC
TOPMed
gnomAD
rs755648168 1276 H>Y No ExAC
TOPMed
gnomAD
rs371595587 1277 G>R No ESP
ExAC
TOPMed
gnomAD
rs371595587 1277 G>S No ESP
ExAC
TOPMed
gnomAD
rs368694527 1278 R>C No ESP
ExAC
TOPMed
gnomAD
rs766179392 1278 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs761987618 1279 Q>* No ExAC
gnomAD
rs2129671961 1279 Q>L No Ensembl
rs760747840 1280 G>S No ExAC
TOPMed
gnomAD
COSM1098968
COSM1098970
rs775604707
1281 F>L Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2133623066 1282 A>V No Ensembl
rs767563825 1283 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1218895759 1283 Q>H No gnomAD
TCGA novel 1285 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs564745975 1286 L>P No 1000Genomes
ExAC
gnomAD
rs760077366 1286 L>V No ExAC
gnomAD
TCGA novel 1287 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1225259268 1287 K>I No gnomAD
rs1287634008 1288 K>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1348491048 1288 K>R No gnomAD
rs372878950 1289 M>I No ESP
ExAC
TOPMed
gnomAD
rs1809452584 1291 H>L No TOPMed
gnomAD
rs778014893 1292 R>* No gnomAD
rs778014893 1292 R>G No gnomAD
COSM2788916
rs749611889
COSM2788917
1292 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1809451790 1295 I>V No TOPMed
rs1586795835 1296 P>H No Ensembl
rs769633398 1296 P>S No ExAC
gnomAD
rs2133622822 1297 G>D No Ensembl
rs1160221115 1297 G>S No gnomAD
rs747784923 1298 C>F No ExAC
gnomAD
rs1196567562 1301 T>I No TOPMed
gnomAD
rs1196567562 1301 T>N No TOPMed
gnomAD
rs74469345 1303 E>* No Ensembl
rs780894636 1306 S>C No ExAC
gnomAD
rs754504315 1307 N>S No ExAC
TOPMed
gnomAD
rs1270349457 1308 I>T No gnomAD
rs1193388559 1309 P>S No Ensembl
rs1455947049 1310 E>D No TOPMed
gnomAD
rs556198096 1310 E>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs1310260663 1311 D>G No TOPMed
gnomAD
rs1308663256 1311 D>H No gnomAD
rs1254164152 1312 A>V No gnomAD
rs773680900 1313 Q>* No ExAC
gnomAD
rs1009724933 1313 Q>R No TOPMed
gnomAD
rs770257103 1317 E>* No 1000Genomes
ExAC
TOPMed
gnomAD
rs770257103 1317 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs1462550226 1318 R>Q No TOPMed
gnomAD
rs576889281 1318 R>W No 1000Genomes
ExAC
gnomAD
COSM261657
rs553766326
1320 A>S Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs553766326 1320 A>T No 1000Genomes
ExAC
gnomAD
TCGA novel 1323 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1480989185 1324 M>I No TOPMed
gnomAD
rs779860474 1324 M>V No ExAC
TOPMed
gnomAD
rs1301600622 1325 A>P No gnomAD
COSM1496825
COSM1496826
rs1301600622
1325 A>T kidney [Cosmic] No cosmic curated
gnomAD
rs772114436
COSM3899470
COSM3899469
1326 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs745771696 1327 N>S No ExAC
gnomAD
rs933877920 1328 V>A No TOPMed
rs1433029018 1331 P>L No TOPMed
gnomAD
rs1809280669 1332 A>T No TOPMed
rs752941943 1336 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs752941943 1336 S>W No ExAC
TOPMed
gnomAD
rs2133610877 1337 E>G No Ensembl
rs1809280107 1337 E>Q No TOPMed
rs755020170 1338 A>G No ExAC
gnomAD
rs1446225834 1338 A>P No TOPMed
gnomAD
rs1167942266 1339 Y>C No TOPMed
rs1480933525 1340 I>T No gnomAD
TCGA novel 1342 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1098965
COSM1098967
1344 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763561548 1345 R>G No ExAC
TOPMed
gnomAD
rs750926603 1346 S>G No ExAC
TOPMed
gnomAD
rs1365031170 1346 S>N No Ensembl
rs185621129 1346 S>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1311090326 1347 V>A No gnomAD
rs201916564 1347 V>M No ExAC
TOPMed
gnomAD
rs1809277627 1348 L>P No TOPMed
rs1809277463 1349 A>T No Ensembl
rs1395919144 1351 E>Q No gnomAD
rs1809277199 1351 E>V No Ensembl
rs975439251 1352 N>Y No TOPMed
rs1397841348 1353 L>F No gnomAD
rs1427246929 1355 T>S No gnomAD
rs1369476648 1356 L>S No TOPMed
gnomAD
rs1809276282 1357 D>E No TOPMed
rs768287004 1357 D>Y No ExAC
gnomAD
COSM3648099
COSM3648098
rs760240202
1358 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760240202 1358 R>G No ExAC
TOPMed
gnomAD
COSM3899468
COSM3899467
rs775114146
1358 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771451545 1359 L>P No ExAC
TOPMed
gnomAD
rs1253902563 1360 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs745847947
COSM5642422
COSM5642421
1360 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1274061636 1361 Q>P No gnomAD
COSM3432329
COSM3432330
rs754322224
1364 A>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1194722507 1364 A>V No TOPMed
rs1437997799 1365 V>A No TOPMed
gnomAD
rs1437997799 1365 V>G No TOPMed
gnomAD
rs1809253144 1371 G>R No gnomAD
rs764353239 1372 K>E No ExAC
gnomAD
rs1322464349 1373 G>R No gnomAD
rs760415108 1374 K>R No ExAC
gnomAD
rs377382162 1376 S>R No ESP
ExAC
TOPMed
gnomAD
rs1057211649 1378 R>S No TOPMed
gnomAD
rs758987621 1381 S>G No ExAC
gnomAD
rs1809251387 1382 S>F No Ensembl
TCGA novel 1385 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1376037682 1386 N>S No gnomAD
rs1238451502 1388 L>F No gnomAD
rs767009385 1389 S>C No ExAC
gnomAD
rs768083592 1392 R>* No TOPMed
gnomAD
rs759181929 1392 R>Q No ExAC
TOPMed
gnomAD
rs773904580 1393 Q>K No ExAC
TOPMed
gnomAD
rs990730752 1393 Q>R No TOPMed
gnomAD
rs1809183247 1394 D>H No Ensembl
TCGA novel 1394 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs765849334 1395 L>F No ExAC
TOPMed
gnomAD
rs765849334 1395 L>V No ExAC
TOPMed
gnomAD
rs1285758574 1396 I>V No gnomAD
rs1445681991 1397 P>S No gnomAD
rs906860624 1398 S>L No TOPMed
gnomAD
rs1809182169 1398 S>P No TOPMed
rs747841646 1399 Y>* No ExAC
gnomAD
rs1809181698 1399 Y>C No Ensembl
rs769656377 1399 Y>H No ExAC
gnomAD
rs143504824 1400 S>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143504824 1400 S>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1021017753 1402 G>S No TOPMed
gnomAD
rs374297067 1403 S>N No ESP
ExAC
TOPMed
gnomAD
rs1380189517 1404 N>I No TOPMed
gnomAD
rs1380189517 1404 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs368888774 1405 K>N No ESP
ExAC
TOPMed
gnomAD
rs1230098851 1406 G>S No gnomAD
rs749258265 1407 R>L No ExAC
gnomAD
rs749258265 1407 R>Q No ExAC
gnomAD
rs368179606 1407 R>W No ESP
TOPMed
gnomAD
rs1434645692 1412 Q>H No gnomAD
rs1295475018 1412 Q>R No TOPMed
gnomAD
rs1190664692 1413 D>A No gnomAD
rs1190664692 1413 D>V No gnomAD
rs1808679349 1415 S>F No TOPMed
gnomAD
COSM3648096
COSM3648097
1415 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1808679228 1417 T>I No gnomAD
rs1354771377 1418 T>I No gnomAD
rs1415285417 1419 V>I No TOPMed
rs748662647 1421 R>K No ExAC
gnomAD
rs1808678202 1422 G>V No TOPMed
rs1586773737 1423 I>L No Ensembl
rs781572213 1423 I>T No ExAC
TOPMed
gnomAD
rs1586773737 1423 I>V No Ensembl
rs1433256877 1424 A>D No TOPMed
gnomAD
rs1159154849 1424 A>P No TOPMed
gnomAD
rs1159154849 1424 A>S No TOPMed
gnomAD
rs1433256877 1424 A>V No TOPMed
gnomAD
rs1210991036 1425 P>S No TOPMed
gnomAD
rs374575291 1426 A>S No ESP
TOPMed
gnomAD
rs1808676860 1426 A>V No gnomAD
rs201933345 1427 P>S No ESP
ExAC
TOPMed
gnomAD
rs749969830 1428 A>T No ExAC
TOPMed
gnomAD
rs373668415 1430 S>C No ESP
ExAC
gnomAD
rs1018387226 1431 V>L No Ensembl
rs753777836 1433 P>L No ExAC
TOPMed
gnomAD
rs991270539 1433 P>S No TOPMed
gnomAD
rs764002928 1434 Q>H No ExAC
TOPMed
gnomAD
TCGA novel 1435 N>I Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs774718387 1437 H>R No ExAC
TOPMed
gnomAD
rs760487348 1437 H>Y No ExAC
gnomAD
rs1808674453 1438 S>Y No Ensembl
rs771344374 1439 P>L No ExAC
gnomAD
rs771344374 1439 P>R No ExAC
gnomAD
rs1437704475 1441 P>T No gnomAD
rs773440014 1442 G>E No ExAC
TOPMed
gnomAD
rs541841891 1442 G>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs773440014 1442 G>V No ExAC
TOPMed
gnomAD
rs765258742 1443 L>F No ExAC
gnomAD
rs765258742 1443 L>I No ExAC
gnomAD
rs1048830108 1445 N>K No TOPMed
rs1166806892 1446 L>H No TOPMed
rs369865951 1446 L>V No ESP
ExAC
TOPMed
gnomAD
rs1253979482 1447 A>G No gnomAD
rs1808365785 1447 A>S No TOPMed
rs1253979482 1447 A>V No gnomAD
rs929092774 1448 A>S No TOPMed
gnomAD
rs769220820 1448 A>V No ExAC
gnomAD
rs1207504620 1450 Y>S No gnomAD
rs377446510 1453 P>A No ESP
ExAC
TOPMed
gnomAD
rs1808364644 1453 P>L No Ensembl
rs377446510 1453 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs377446510 1453 P>T No ESP
ExAC
TOPMed
gnomAD
rs1246004618 1455 K>R No TOPMed
gnomAD
rs1808363956 1456 S>F No TOPMed
rs1323941990 1456 S>T No gnomAD
rs775884382 1457 F>L No ExAC
gnomAD
TCGA novel 1457 F>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs200599694 1458 V>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200599694 1458 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1563693172 1459 P>L No TOPMed
rs1586764761 1461 M>T No Ensembl
rs1808363044 1462 P>Q No Ensembl
rs756724342 1463 K>E No ExAC
TOPMed
gnomAD
rs748872453 1463 K>M No ExAC
gnomAD
rs1326952267 1464 L>I No TOPMed
gnomAD
rs777406920 1466 K>R No ExAC
TOPMed
gnomAD
TCGA novel 1468 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs752648287 1469 F>L No ExAC
TOPMed
gnomAD
rs1306400645 1470 P>L No Ensembl
rs1472892267 1470 P>S No gnomAD
VAR_055982
rs17526980
1471 V>I No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs776750868 1472 R>C No ExAC
TOPMed
gnomAD
rs776750868 1472 R>G No ExAC
TOPMed
gnomAD
rs764139083 1472 R>H No ExAC
TOPMed
gnomAD
rs764139083 1472 R>L No ExAC
TOPMed
gnomAD
rs1448046330 1473 D>E No Ensembl
rs772336597 1473 D>G No ExAC
TOPMed
gnomAD
rs201563049 1473 D>N No ExAC
TOPMed
gnomAD
rs1289615085 1474 E>D No gnomAD
rs1330432646 1474 E>K No gnomAD
rs2133549899 1475 K>E No Ensembl
rs1808359390 1476 R>G No TOPMed
rs1226022474 1476 R>S No gnomAD
rs1323769241 1477 G>D No gnomAD
rs746177089 1477 G>S No ExAC
gnomAD
rs915321754 1478 K>E No Ensembl
rs774572916 1479 R>G No ExAC
TOPMed
gnomAD
rs770673480 1479 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs774572916 1479 R>W No ExAC
TOPMed
gnomAD
rs201077981 1480 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs201077981 1480 P>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs201077981 1480 P>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs781130442 1482 P>S No ExAC
TOPMed
gnomAD
rs1230203216 1483 L>P No TOPMed
gnomAD
rs561619897 1484 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1360712029 1485 H>R No Ensembl
rs779703300 1485 H>Y No ExAC
TOPMed
gnomAD
rs1807506092 1487 P>S No TOPMed
gnomAD
rs1807506092 1487 P>T No TOPMed
gnomAD
rs199652125 1488 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1807505367 1489 P>R No gnomAD
rs1225474229 1489 P>S No TOPMed
gnomAD
rs1225474229 1489 P>T No TOPMed
gnomAD
rs201273629 1490 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs767471422
COSM5976814
COSM5976813
1490 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1166527015 1492 M>I No TOPMed
gnomAD
rs1807504637 1493 V>M No Ensembl
rs867385353 1494 Q>* No gnomAD
rs760126656 1494 Q>R No ExAC
gnomAD
rs1277290870 1495 S>P No gnomAD
rs1275302709 1496 A>V No Ensembl
rs1484387808 1497 S>G No TOPMed
gnomAD
rs1256251747 1498 P>A No gnomAD
rs374209248
COSM1456522
COSM1456523
1498 P>L Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs374209248 1498 P>Q No TOPMed
gnomAD
rs374209248 1498 P>R No TOPMed
gnomAD
rs1256251747 1498 P>S No gnomAD
TCGA novel 1499 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs368364212 1500 I>F No ESP
ExAC
TOPMed
gnomAD
rs368364212 1500 I>V No ESP
ExAC
TOPMed
gnomAD
rs867241022 1501 R>G No TOPMed
rs868361626 1501 R>M No Ensembl
rs200434029 1503 T>I No ESP
ExAC
TOPMed
gnomAD
rs200434029 1503 T>N No ESP
ExAC
TOPMed
gnomAD
rs200434029 1503 T>S No ESP
ExAC
TOPMed
gnomAD
rs371444377 1504 R>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1353586484 1505 M>I No gnomAD
rs776257053 1505 M>R No ExAC
TOPMed
gnomAD
TCGA novel 1507 E>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs2133481036 1507 E>D No Ensembl
rs2133469090 1508 A>D No Ensembl
rs772053981 1509 Q>* No ExAC
gnomAD
rs1308638938 1510 P>A No TOPMed
rs770317379 1510 P>L No ExAC
TOPMed
gnomAD
rs770317379 1510 P>R No ExAC
TOPMed
gnomAD
rs774171526 1511 E>A No ExAC
gnomAD
rs202077289 1512 M>R No ESP
ExAC
TOPMed
gnomAD
rs369153052 1513 G>D No ESP
TOPMed
rs1807335384 1514 P>R No TOPMed
rs1586737956 1516 V>A No Ensembl
rs1023818789 1516 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs879120984 1518 V>L No TOPMed
gnomAD
rs879120984 1518 V>M No TOPMed
gnomAD
rs1807333914 1519 Q>K No Ensembl
rs1305971481 1519 Q>R No gnomAD
rs1439152681 1520 T>K No TOPMed
gnomAD
rs1443590999 1521 M>I No gnomAD
rs755086480 1521 M>V No ExAC
gnomAD
rs1807332887 1522 G>A No TOPMed
rs1342886622 1523 A>G No gnomAD
rs1433031821 1523 A>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1455823629 1523 A>S No gnomAD
rs1157734865 1524 P>L No TOPMed
gnomAD
rs1785566813 1524 P>S No TOPMed
rs1033074771 1527 K>N No TOPMed
rs775030095 1528 I>M No ExAC
gnomAD
rs369401468 1528 I>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1807331422 1529 C>Y No TOPMed
rs900113829 1530 D>G No Ensembl
rs750932932 1530 D>H No ExAC
TOPMed
gnomAD
rs750932932 1530 D>N No ExAC
TOPMed
gnomAD
rs750932932 1530 D>Y No ExAC
TOPMed
gnomAD
rs1586737815 1531 K>N No Ensembl
rs757515152 1533 A>D No ExAC
TOPMed
gnomAD
rs1807330626 1533 A>T No Ensembl
rs757515152 1533 A>V No ExAC
TOPMed
gnomAD
rs1484870909 1534 K>E No TOPMed
gnomAD
rs1484870909 1534 K>Q No TOPMed
gnomAD
rs1050903600 1536 P>A No TOPMed
gnomAD
rs753544473 1536 P>R No ExAC
TOPMed
gnomAD
rs1050903600 1536 P>S No TOPMed
gnomAD
rs1050903600 1536 P>T No TOPMed
gnomAD
rs1807329229 1537 S>C No TOPMed
gnomAD
rs1807329229 1537 S>F No TOPMed
gnomAD
rs200102612 1537 S>P No Ensembl
rs117202308 1539 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1232431017 1540 P>S No gnomAD
rs1226131203 1541 V>D No TOPMed
gnomAD
rs766983278 1542 I>R No ExAC
TOPMed
gnomAD
rs766983278 1542 I>T No ExAC
TOPMed
gnomAD
rs1807327978 1543 A>T No TOPMed
rs759500649 1545 T>I No ExAC
TOPMed
gnomAD
rs774220954 1546 A>V No ExAC
TOPMed
gnomAD
rs1360505133 1548 T>S No TOPMed
gnomAD
rs367772924 1549 P>L No ESP
ExAC
TOPMed
gnomAD
rs367772924 1549 P>R No ESP
ExAC
TOPMed
gnomAD
rs941257095 1551 P>L No TOPMed
gnomAD
rs1807325679 1552 E>G No TOPMed
rs1171344593 1553 A>V No gnomAD
rs576137578 1554 Q>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs747214816 1555 D>N No ExAC
TOPMed
gnomAD
rs1426607352 1556 G>R No TOPMed
gnomAD
rs1163407445 1557 P>L No gnomAD
COSM1456521
COSM1456520
rs1428654026
1557 P>S Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1428654026 1557 P>T No TOPMed
gnomAD
rs1807324037 1558 P>S No TOPMed
TCGA novel 1559 S>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1807323657 1559 S>N No TOPMed
gnomAD
rs780325964 1559 S>R No ExAC
TOPMed
gnomAD
rs772239580 1560 P>S No ExAC
TOPMed
gnomAD
rs772239580 1560 P>T No ExAC
TOPMed
gnomAD
TCGA novel 1561 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1275721543 1565 S>F No TOPMed
gnomAD
rs1586737552 1569 F>S No Ensembl
rs75022514 1570 S>P No Ensembl
rs1356761459 1571 H>R No gnomAD
rs1182061064 1571 H>Y No TOPMed
gnomAD
rs1807321277 1573 V>I No TOPMed
rs767032667 1575 T>I No ExAC
gnomAD
rs751500202 1576 A>S No ExAC
TOPMed
gnomAD
rs766290711 1576 A>V No ExAC
gnomAD
rs769605242 1579 S>L No ExAC
TOPMed
gnomAD
rs1807319956 1580 D>N No TOPMed
rs1420025061 1581 A>S No TOPMed
gnomAD
rs1420025061 1581 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1807319468 1582 L>P No Ensembl
rs1464964973 1583 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1807317510 1584 P>H No Ensembl
rs2133467805 1585 G>S No Ensembl
rs916728768 1589 A>G No TOPMed
rs1788013424 1589 A>T No Ensembl
rs1807316112 1591 P>L No TOPMed
rs1807315682 1593 G>E No TOPMed
rs1251132177 1594 S>C No TOPMed
gnomAD
rs1251132177 1594 S>F No TOPMed
gnomAD
rs745879040 1595 M>V No ExAC
TOPMed
rs576809142 1596 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs576809142 1596 P>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1286461756 1597 T>I No Ensembl
rs1286461756 1597 T>N No Ensembl
rs1031287048 1598 A>V No gnomAD
rs1327333684 1599 P>A No TOPMed
gnomAD
rs553708749 1600 E>G No 1000Genomes
gnomAD
rs1227944519 1601 A>T No 1000Genomes
gnomAD
rs1807313813 1601 A>V No TOPMed
rs1807313561 1602 E>K No TOPMed
rs1807313282 1603 P>H No Ensembl
rs1807313425 1603 P>S No Ensembl
rs2133467422 1604 E>K No Ensembl
rs1807312831 1605 A>V No TOPMed
gnomAD
rs1807312538 1606 P>S No gnomAD
rs1807312254 1608 S>C No 1000Genomes
rs974080087 1609 H>P No Ensembl
rs1586737306 1609 H>Y No Ensembl
rs866631138 1610 P>L No Ensembl
rs1807311695 1610 P>S No TOPMed
rs1807311136 1611 P>Q No Ensembl
rs1422979172 1611 P>S No TOPMed
gnomAD
rs1422979172 1611 P>T No TOPMed
gnomAD
rs1807310835 1612 P>L No gnomAD
rs1807310835 1612 P>Q No gnomAD
rs1807310448 1614 T>M No Ensembl
rs1232139228 1615 A>T No gnomAD
rs1807310098 1615 A>V No TOPMed
gnomAD
rs1367478541 1616 V>A No gnomAD
rs1471414893 1616 V>I No TOPMed
rs1586737223 1617 P>R No Ensembl
rs1436454561 1618 A>T No TOPMed
gnomAD
rs1173922237 1619 E>K No TOPMed
gnomAD
rs1350613947 1621 P>A No 1000Genomes
TOPMed
gnomAD
rs1350613947 1621 P>T No 1000Genomes
TOPMed
gnomAD
rs1406724373 1622 P>R No TOPMed
gnomAD
rs1387870263 1623 G>S No TOPMed
gnomAD
rs1807308043 1623 G>V No TOPMed
rs899609149 1624 P>L No TOPMed
gnomAD
rs899609149 1624 P>R No TOPMed
gnomAD
rs1807307920 1624 P>S No TOPMed
rs534256791 1626 Q>H No 1000Genomes
TOPMed
gnomAD
rs1293897813 1627 L>F No TOPMed
gnomAD
rs1462893512 1628 V>M No TOPMed
gnomAD
rs1349245798 1629 S>N No TOPMed
gnomAD
rs1392181197 1629 S>R No gnomAD
rs1349245798 1629 S>T No TOPMed
gnomAD
rs1213577317 1631 G>A No TOPMed
gnomAD
rs1164204209 1631 G>S No gnomAD
rs1474905484 1632 R>Q No TOPMed
gnomAD
rs1249374620 1632 R>W No TOPMed
gnomAD
rs1005368278 1633 E>G No gnomAD
rs1411199048 1634 R>C No TOPMed
rs1807305672 1634 R>H No TOPMed
gnomAD
rs1807305672 1634 R>L No TOPMed
gnomAD
rs1807305534 1635 P>S No Ensembl
rs574810703 1636 D>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs756451345 1636 D>N No ExAC
gnomAD
rs888352370 1637 L>F No TOPMed
gnomAD
rs1210825080 1638 E>K No gnomAD
rs1470156567 1640 P>L No gnomAD
rs1807304007 1640 P>S No TOPMed
rs1213672375 1641 A>T No TOPMed
gnomAD
rs1329181913 1641 A>V No TOPMed
gnomAD
rs1262007130 1642 P>R No TOPMed
gnomAD
rs1236344519 1643 G>C No gnomAD
rs1236344519 1643 G>S No gnomAD
rs554817518 1644 S>Y No 1000Genomes
ExAC
gnomAD
rs1329860970 1645 P>L No TOPMed
rs1329860970 1645 P>Q No TOPMed
rs1329860970 1645 P>R No TOPMed
rs1442820468 1645 P>S No gnomAD
rs2133466445 1646 F>L No 1000Genomes
rs754617977 1647 R>C No ExAC
TOPMed
gnomAD
rs754617977 1647 R>G No ExAC
TOPMed
gnomAD
rs1807301742 1647 R>H No Ensembl
rs751124305 1648 V>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs13263056 1649 R>L No TOPMed
rs13263056 1649 R>Q No TOPMed
rs1160378572 1649 R>W No TOPMed
gnomAD
rs1807300800 1650 R>M No TOPMed
gnomAD
rs1305565617 1651 V>A No gnomAD
rs1363427123 1651 V>L No gnomAD
rs1363427123 1651 V>M No gnomAD
rs1807299962 1652 R>Q No Ensembl
rs1194575791 1652 R>W No gnomAD
rs1237189431 1653 A>T No TOPMed
gnomAD
rs1455836285 1654 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1455836285 1654 S>W No TOPMed
gnomAD
rs1339511787 1655 E>Q No TOPMed
gnomAD
rs1193515874 1657 R>C No TOPMed
gnomAD
rs1193515874 1657 R>G No TOPMed
gnomAD
rs1448086506 1657 R>H No TOPMed
gnomAD
rs1448086506 1657 R>L No TOPMed
gnomAD
rs1448086506 1657 R>P No TOPMed
gnomAD
rs1273354529 1658 S>C No TOPMed
rs538052005 1659 F>S No 1000Genomes
ExAC
gnomAD
rs538052005 1659 F>Y No 1000Genomes
ExAC
gnomAD
rs1218848641 1660 S>L No TOPMed
gnomAD
rs755491671 1661 R>C No TOPMed
gnomAD
rs1345413811 1661 R>H No gnomAD
rs1345413811 1661 R>L No gnomAD
rs755491671 1661 R>S No TOPMed
gnomAD
rs772358686 1662 M>I No TOPMed
gnomAD
rs1302456071 1662 M>L No TOPMed
gnomAD
rs569394326 1662 M>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1302456071 1662 M>V No TOPMed
gnomAD
rs1328143260 1664 A>S No TOPMed
gnomAD
rs1328143260 1664 A>T No TOPMed
gnomAD
rs1316210351 1664 A>V No TOPMed
gnomAD
rs764968047 1665 G>A No ExAC
TOPMed
gnomAD
TCGA novel 1665 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1386698072 1667 P>A No gnomAD
rs1436848926 1668 G>S No TOPMed
gnomAD
rs917253629 1670 S>F No TOPMed
gnomAD
rs1807295820 1670 S>P No TOPMed
rs917253629 1670 S>Y No TOPMed
gnomAD
rs989640527 1671 P>L No TOPMed
gnomAD
rs989640527 1671 P>R No TOPMed
gnomAD
rs1173415987 1671 P>S No gnomAD
rs1191713559 1672 G>W No gnomAD
rs1257633306 1673 A>D No gnomAD
rs1257633306 1673 A>G No gnomAD
rs761642628 1673 A>S No ExAC
TOPMed
gnomAD
rs761642628 1673 A>T No ExAC
TOPMed
gnomAD
rs775861530 1674 E>D No ExAC
gnomAD
rs978333948 1674 E>K No TOPMed
rs1306976598 1675 G>V No gnomAD
rs992882593 1675 G>W No TOPMed
gnomAD
rs1214927565 1677 A>P No TOPMed
gnomAD
rs1214927565 1677 A>S No TOPMed
gnomAD
rs1214927565 1677 A>T No TOPMed
gnomAD
rs1341296675 1677 A>V No TOPMed
gnomAD
rs748528379 1678 P>A No TOPMed
gnomAD
rs1226630898 1678 P>L No TOPMed
gnomAD
rs748528379 1678 P>S No TOPMed
gnomAD
rs1416791217 1679 A>G No TOPMed
gnomAD
rs1313563583 1679 A>T No gnomAD
rs1416791217 1679 A>V No TOPMed
gnomAD
rs1312569027 1680 P>L No gnomAD
rs1373850491 1680 P>T No gnomAD
rs1807291198 1681 G>C No Ensembl
rs1807290927 1681 G>V No Ensembl
rs1807290602 1682 A>P No TOPMed
rs1807290602 1682 A>T No TOPMed
rs772491346 1682 A>V No ExAC
TOPMed
gnomAD
rs981072011
TCGA novel
1683 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs981072011 1683 G>W No TOPMed
gnomAD
rs1189467589 1684 G>E No gnomAD
rs1417872356 1684 G>R No TOPMed
gnomAD
rs1484438426 1685 Q>K No gnomAD
rs1204828151 1687 L>P No TOPMed
gnomAD
rs1204828151 1687 L>R No TOPMed
gnomAD
rs1320802581 1688 A>V No TOPMed
gnomAD
rs1484197514 1689 S>P No TOPMed
gnomAD
rs771002478 1691 S>C No ExAC
TOPMed
gnomAD
rs1335406484 1692 E>K No TOPMed
gnomAD
rs1022102959 1694 A>D No TOPMed
gnomAD
rs1022102959 1694 A>V No TOPMed
gnomAD
rs749780737 1695 D>E No ExAC
gnomAD
rs1807287690 1696 E>D No Ensembl
rs1355703270 1697 V>A No TOPMed
gnomAD
rs1586736508 1697 V>I No Ensembl
rs1009322807 1698 P>L No gnomAD
rs1009322807 1698 P>R No gnomAD
rs1356605252 1699 E>A No TOPMed
gnomAD
rs566786202 1699 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1700 W>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1205691203 1702 R>* No Ensembl
rs1807286210 1704 G>S No TOPMed
rs1409842586 1704 G>V No gnomAD
TCGA novel 1705 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs367988811 1706 F>L No ESP
ExAC
TOPMed
gnomAD
COSM1456518
COSM1456519
rs1473922547
1707 V>I Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1473922547 1707 V>L No TOPMed
gnomAD
rs375844229 1708 T>I No ESP
ExAC
TOPMed
gnomAD
rs375844229 1708 T>S No ESP
ExAC
TOPMed
gnomAD
rs1230906498 1709 V>L No TOPMed
gnomAD
rs1230906498 1709 V>M No TOPMed
gnomAD
rs757880042 1711 A>P No ExAC
gnomAD
rs757880042 1711 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs941581834 1712 H>Q No TOPMed
gnomAD
rs1039976250 1712 H>R No Ensembl
rs547030704 1714 T>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs547030704 1714 T>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs779345859 1716 V>L No ExAC
TOPMed
gnomAD
COSM1212357
COSM1212356
rs779345859
1716 V>M large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1375820012 1718 R>T No gnomAD
rs1025914110 1719 Y>* No 1000Genomes
TOPMed
gnomAD
rs200418743
RCV000884441
1719 Y>C No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs753746284 1720 V>L No ExAC
TOPMed
gnomAD
rs753746284 1720 V>M No ExAC
TOPMed
gnomAD
rs917366507 1723 A>S No TOPMed
gnomAD
TCGA novel 1723 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs763949498 1723 A>V No ExAC
rs1159213137 1724 D>H No TOPMed
gnomAD
rs1159213137 1724 D>N No TOPMed
gnomAD
rs1401998179 1725 F>L No TOPMed
gnomAD
rs1176305078 1727 E>* No TOPMed
gnomAD
rs1176305078 1727 E>K No TOPMed
gnomAD
TCGA novel
rs1807281343
1728 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs759867597 1728 G>S No ExAC
gnomAD
rs2133464611 1729 T>M No Ensembl
rs1807280914 1730 W>* No TOPMed
rs1246146756 1732 G>S No gnomAD
rs1209996212 1736 D>H No TOPMed
gnomAD
rs1209996212 1736 D>N No TOPMed
gnomAD
rs1807279445 1738 P>L No TOPMed
rs1807279569 1738 P>S No gnomAD
rs1439267809 1739 S>L No gnomAD
rs1041378756 1740 G>D No Ensembl
rs745488043 1743 D>E No ExAC
gnomAD
rs202164524 1744 G>C No ESP
ExAC
TOPMed
gnomAD
rs202164524 1744 G>R No ESP
ExAC
TOPMed
gnomAD
rs202164524 1744 G>S No ESP
ExAC
TOPMed
gnomAD
rs759416176 1746 I>T No TOPMed
gnomAD
rs1807227754 1746 I>V No TOPMed
rs755997303 1747 G>C No ExAC
TOPMed
gnomAD
rs752592040 1747 G>D No ExAC
TOPMed
gnomAD
rs755997303 1747 G>R No ExAC
TOPMed
gnomAD
rs755997303 1747 G>S No ExAC
TOPMed
gnomAD
rs758684417 1748 G>A No ExAC
TOPMed
gnomAD
rs758684417 1748 G>E No ExAC
TOPMed
gnomAD
rs574109297 1748 G>R No 1000Genomes
TOPMed
gnomAD
rs574109297 1748 G>W No 1000Genomes
TOPMed
gnomAD
rs1033955710 1749 K>E No gnomAD
rs1179308343 1750 Q>H No gnomAD
rs1807226190 1750 Q>R No gnomAD
rs1807225932 1751 Y>C No Ensembl
rs1807225656 1752 F>Y No TOPMed
rs1586734741 1753 R>G No Ensembl
rs1260366037 1753 R>S No TOPMed
gnomAD
rs1002125074 1754 C>G No Ensembl
rs1477957078 1755 N>K No TOPMed
gnomAD
rs1586734714 1755 N>T No Ensembl
rs765325902 1756 P>R No ExAC
gnomAD
rs1807224670 1756 P>S No gnomAD
rs965980979 1757 G>D No TOPMed
rs1195346670 1757 G>S No TOPMed
gnomAD
rs965980979 1757 G>V No TOPMed
rs1586734683 1758 Y>C No Ensembl
rs1586734683 1758 Y>F No Ensembl
rs1270764810 1759 G>E No gnomAD
rs1336237194 1759 G>R No TOPMed
gnomAD
rs761826952 1760 L>P No ExAC
gnomAD
rs1017567808 1762 V>A No 1000Genomes
TOPMed
gnomAD
rs1308777903 1762 V>I No gnomAD
rs764652302 1764 P>H No ExAC
gnomAD
rs369595297 1765 S>T No ESP
ExAC
TOPMed
gnomAD
rs1288385028 1766 R>Q No TOPMed
gnomAD
rs537017741 1766 R>W No 1000Genomes
ExAC
TOPMed
gnomAD
rs1402121308 1767 V>G No gnomAD
rs759254377 1768 R>C No ExAC
TOPMed
gnomAD
rs770569664 1768 R>H No ExAC
TOPMed
gnomAD
rs770569664 1768 R>L No ExAC
TOPMed
gnomAD
rs952182226 1769 R>G No TOPMed
gnomAD
rs1807220653 1769 R>K No TOPMed
gnomAD
rs1807220500 1770 A>T No TOPMed
gnomAD
rs1424659283 1771 T>A No gnomAD
rs569156581 1771 T>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs1424659283 1771 T>P No gnomAD
rs781075161 1772 G>C No ExAC
TOPMed
gnomAD
rs1807219522 1772 G>D No TOPMed
rs781075161 1772 G>S No ExAC
TOPMed
gnomAD
rs1028219626 1773 P>A No TOPMed
rs779044932 1775 R>L No ExAC
TOPMed
gnomAD
rs779044932 1775 R>Q No ExAC
TOPMed
gnomAD
rs754683695 1775 R>W No ExAC
TOPMed
gnomAD
rs764060371 1776 R>P No ExAC
TOPMed
gnomAD
rs764060371 1776 R>Q No ExAC
TOPMed
gnomAD
rs757466920 1776 R>W No ExAC
TOPMed
gnomAD
rs552142818 1777 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs753094507 1777 R>H No ExAC
TOPMed
gnomAD
rs753094507 1777 R>L No ExAC
TOPMed
gnomAD
rs1322888415 1778 S>N No gnomAD
rs759912737 1779 T>A No ExAC
TOPMed
gnomAD
rs766188778 1780 G>R No ExAC
TOPMed
gnomAD
rs566940732 1781 L>H No ExAC
TOPMed
gnomAD
rs1418137627 1781 L>I No gnomAD
rs566940732 1781 L>P No ExAC
TOPMed
gnomAD
rs769143965 1782 R>Q No ExAC
TOPMed
gnomAD
rs772886058
COSM1734149
COSM1734148
1782 R>W pancreas [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs966456021 1783 L>P No TOPMed
gnomAD
rs1447025097 1784 G>A No gnomAD
rs1447025097 1784 G>D No gnomAD
rs1243607028 1785 A>T No TOPMed
gnomAD
rs748141536 1785 A>V No ExAC
gnomAD
rs1353879225 1786 P>L No TOPMed
gnomAD
rs776377730 1786 P>S No ExAC
TOPMed
gnomAD
rs776377730 1786 P>T No ExAC
TOPMed
gnomAD
rs757524983 1787 E>K No ExAC
TOPMed
gnomAD
rs757524983 1787 E>Q No ExAC
TOPMed
gnomAD
rs945270217 1788 A>D No TOPMed
gnomAD
rs749483065 1789 R>C No ExAC
TOPMed
gnomAD
rs201015626 1789 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753252153 1790 R>Q No ExAC
TOPMed
gnomAD
rs377365368 1790 R>W No 1000Genomes
ExAC
TOPMed
gnomAD
rs560613937 1791 S>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs755524267 1791 S>R No ExAC
TOPMed
gnomAD
rs192432763 1792 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1400539555 1793 T>I No TOPMed
gnomAD
rs1400539555 1793 T>N No TOPMed
gnomAD
rs903803757 1793 T>P No Ensembl
rs1400539555 1793 T>S No TOPMed
gnomAD
rs1458595566 1794 L>F No TOPMed
gnomAD
rs1458595566 1794 L>V No TOPMed
gnomAD
rs772693486 1795 S>L No ExAC
gnomAD
rs896969746 1796 G>D No TOPMed
gnomAD
rs1807211197 1796 G>S No Ensembl
rs2133459311 1797 S>F No Ensembl
rs768534631 1798 A>G No ExAC
TOPMed
gnomAD
rs370028815 1798 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768534631 1798 A>V No ExAC
TOPMed
gnomAD
rs1807210233 1799 T>A No Ensembl
rs1300660537 1799 T>N No TOPMed
gnomAD
rs1586734192 1800 N>H No Ensembl
rs1212639331 1800 N>I No gnomAD
rs775305974 1802 A>D No ExAC
gnomAD
rs775305974 1802 A>V No ExAC
gnomAD
COSM3925137
rs773872653
COSM3925136
1803 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773872653 1803 S>W No ExAC
TOPMed
gnomAD
rs777789673 1804 L>P No ExAC
TOPMed
gnomAD
rs1807208727 1805 T>I No gnomAD
rs371612114 1807 A>D No ESP
ExAC
TOPMed
gnomAD
rs371612114 1807 A>G No ESP
ExAC
TOPMed
gnomAD
rs375105823 1807 A>T No ESP
ExAC
TOPMed
gnomAD
rs1807207689 1809 A>D No Ensembl
rs1410935022 1809 A>T No TOPMed
gnomAD
TCGA novel 1809 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs368696178 1810 K>E No ESP
ExAC
TOPMed
gnomAD
rs1417981157 1811 A>T No gnomAD
rs200053841 1812 D>N No ESP
ExAC
TOPMed
gnomAD
rs761512938 1812 D>V No ExAC
TOPMed
gnomAD
rs753341839 1813 R>G No ExAC
TOPMed
gnomAD
rs1807205932 1813 R>K No Ensembl
rs763567000 1814 S>N No ExAC
gnomAD
rs760639554 1815 H>R No ExAC
gnomAD
rs1256051327 1815 H>Y No gnomAD
rs775359435 1816 K>R No ExAC
TOPMed
gnomAD
rs1348849392 1817 N>D No TOPMed
gnomAD
rs1807204908 1817 N>S No TOPMed
rs1273893668 1818 P>A No TOPMed
gnomAD
rs1230181124 1818 P>L No gnomAD
TCGA novel 1819 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1283891781 1820 N>S No gnomAD
rs565579653 1821 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs201770958 1821 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1822 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1807203375 1823 S>Y No TOPMed
rs781160340 1824 W>* No ExAC
TOPMed
gnomAD
rs781160340 1824 W>C No ExAC
TOPMed
gnomAD
rs768805349 1825 A>V No ExAC
gnomAD

No associated diseases with Q9NQT8

5 regional properties for Q9NQT8

Type Name Position InterPro Accession
domain Protein kinase domain 406 - 663 IPR000719
domain Doublecortin domain 52 - 143 IPR003533-1
domain Doublecortin domain 181 - 269 IPR003533-2
active_site Serine/threonine-protein kinase, active site 523 - 535 IPR008271
binding_site Protein kinase, ATP binding site 412 - 439 IPR017441

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton
  • Cell projection, axon
  • accumulates at the distal part of the microtubules in the tips of axons, but not of dendrites
PANTHER Family PTHR47117 STAR-RELATED LIPID TRANSFER PROTEIN 9
PANTHER Subfamily PTHR47117:SF5 SUBFAMILY NOT NAMED
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
kinesin complex Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work.
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.

6 GO annotations of molecular function

Name Definition
14-3-3 protein binding Binding to a 14-3-3 protein. A 14-3-3 protein is any of a large family of approximately 30kDa acidic proteins which exist primarily as homo- and heterodimers within all eukaryotic cells, and have been implicated in the modulation of distinct biological processes by binding to specific phosphorylated sites on diverse target proteins, thereby forcing conformational changes or influencing interactions between their targets and other molecules. Each 14-3-3 protein sequence can be roughly divided into three sections
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction
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.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.

6 GO annotations of biological process

Name Definition
cytoskeleton-dependent intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell.
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.
protein targeting The process of targeting specific proteins to particular regions of the cell, typically membrane-bounded subcellular organelles. Usually requires an organelle specific protein sequence motif.
regulation of axonogenesis Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
T cell activation The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.

13 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P33176 KIF5B Kinesin-1 heavy chain Homo sapiens (Human) EV
O60282 KIF5C Kinesin heavy chain isoform 5C Homo sapiens (Human) EV
Q12840 KIF5A Kinesin heavy chain isoform 5A Homo sapiens (Human) EV
Q2M1P5 KIF7 Kinesin-like protein KIF7 Homo sapiens (Human) EV
Q86VH2 KIF27 Kinesin-like protein KIF27 Homo sapiens (Human) SS
Q7Z4S6 KIF21A Kinesin-like protein KIF21A Homo sapiens (Human) EV
O75037 KIF21B Kinesin-like protein KIF21B Homo sapiens (Human) EV
Q9P2E2 KIF17 Kinesin-like protein KIF17 Homo sapiens (Human) EV
O00139 KIF2A Kinesin-like protein KIF2A Homo sapiens (Human) PR
Q9H1H9 KIF13A Kinesin-like protein KIF13A Homo sapiens (Human) SS
O43896 KIF1C Kinesin-like protein KIF1C Homo sapiens (Human) SS
Q9EQW7 Kif13a Kinesin-like protein KIF13A Mus musculus (Mouse) SS
Q70AM4 Kif13b Kinesin 13B Rattus norvegicus (Rat) EV
10 20 30 40 50 60
MGDSKVKVAV RIRPMNRRET DLHTKCVVDV DANKVILNPV NTNLSKGDAR GQPKVFAYDH
70 80 90 100 110 120
CFWSMDESVK EKYAGQDIVF KCLGENILQN AFDGYNACIF AYGQTGSGKS YTMMGTADQP
130 140 150 160 170 180
GLIPRLCSGL FERTQKEENE EQSFKVEVSY MEIYNEKVRD LLDPKGSRQT LKVREHSVLG
190 200 210 220 230 240
PYVDGLSKLA VTSYKDIESL MSEGNKSRTV AATNMNEESS RSHAVFKITL THTLYDVKSG
250 260 270 280 290 300
TSGEKVGKLS LVDLAGSERA TKTGAAGDRL KEGSNINKSL TTLGLVISAL ADQSAGKNKN
310 320 330 340 350 360
KFVPYRDSVL TWLLKDSLGG NSKTAMVATV SPAADNYDET LSTLRYADRA KHIVNHAVVN
370 380 390 400 410 420
EDPNARIIRD LREEVEKLRE QLTKAEAMKS PELKDRLEES EKLIQEMTVT WEEKLRKTEE
430 440 450 460 470 480
IAQERQKQLE SLGISLQSSG IKVGDDKCFL VNLNADPALN ELLVYYLKEH TLIGSANSQD
490 500 510 520 530 540
IQLCGMGILP EHCIIDITSE GQVMLTPQKN TRTFVNGSSV SSPIQLHHGD RILWGNNHFF
550 560 570 580 590 600
RLNLPKKKKK AEREDEDQDP SMKNENSSEQ LDVDGDSSSE VSSEVNFNYE YAQMEVTMKA
610 620 630 640 650 660
LGSNDPMQSI LNSLEQQHEE EKRSALERQR LMYEHELEQL RRRLSPEKQN CRSMDRFSFH
670 680 690 700 710 720
SPSAQQRLRQ WAEEREATLN NSLMRLREQI VKANLLVREA NYIAEELDKR TEYKVTLQIP
730 740 750 760 770 780
ASSLDANRKR GSLLSEPAIQ VRRKGKGKQI WSLEKLDNRL LDMRDLYQEW KECEEDNPVI
790 800 810 820 830 840
RSYFKRADPF YDEQENHSLI GVANVFLESL FYDVKLQYAV PIINQKGEVA GRLHVEVMRL
850 860 870 880 890 900
SGDVGERIAG GDEVAEVSFE KETQENKLVC MVKILQATGL PQHLSHFVFC KYSFWDQQEP
910 920 930 940 950 960
VIVAPEVDTS SSSVSKEPHC MVVFDHCNEF SVNITEDFIE HLSEGALAIE VYGHKINDPR
970 980 990 1000 1010 1020
KNPALWDLGI IQAKTRSLRD RWSEVTRKLE FWVQILEQNE NGEYCPVEVI SAKDVPTGGI
1030 1040 1050 1060 1070 1080
FQLRQGQSRR VQVEVKSVQE SGTLPLMEEC ILSVGIGCVK VRPLRAPRTH ETFHEEEEDM
1090 1100 1110 1120 1130 1140
DSYQDRDLER LRRKWLNALT KRQEYLDQQL QKLVSKRDKT EDDADREAQL LEMRLTLTEE
1150 1160 1170 1180 1190 1200
RNAVMVPSAG SGIPGAPAEW TPVPGMETHI PVIFLDLNAD DFSSQDNLDD PEAGGWDATL
1210 1220 1230 1240 1250 1260
TGEEEEEFFE LQIVKQHDGE VKAEASWDSA VHGCPQLSRG TPVDERLFLI VRVTVQLSHP
1270 1280 1290 1300 1310 1320
ADMQLVLRKR ICVNVHGRQG FAQSLLKKMS HRSSIPGCGV TFEIVSNIPE DAQGVEEREA
1330 1340 1350 1360 1370 1380
LARMAANVEN PASADSEAYI EKYLRSVLAV ENLLTLDRLR QEVAVKEQLT GKGKLSRRSI
1390 1400 1410 1420 1430 1440
SSPNVNRLSG SRQDLIPSYS LGSNKGRWES QQDVSQTTVS RGIAPAPALS VSPQNNHSPD
1450 1460 1470 1480 1490 1500
PGLSNLAASY LNPVKSFVPQ MPKLLKSLFP VRDEKRGKRP SPLAHQPVPR IMVQSASPDI
1510 1520 1530 1540 1550 1560
RVTRMEEAQP EMGPDVLVQT MGAPALKICD KPAKVPSPPP VIAVTAVTPA PEAQDGPPSP
1570 1580 1590 1600 1610 1620
LSEASSGYFS HSVSTATLSD ALGPGLDAAA PPGSMPTAPE AEPEAPISHP PPPTAVPAEE
1630 1640 1650 1660 1670 1680
PPGPQQLVSP GRERPDLEAP APGSPFRVRR VRASELRSFS RMLAGDPGCS PGAEGNAPAP
1690 1700 1710 1720 1730 1740
GAGGQALASD SEEADEVPEW LREGEFVTVG AHKTGVVRYV GPADFQEGTW VGVELDLPSG
1750 1760 1770 1780 1790 1800
KNDGSIGGKQ YFRCNPGYGL LVRPSRVRRA TGPVRRRSTG LRLGAPEARR SATLSGSATN
1810 1820
LASLTAALAK ADRSHKNPEN RKSWAS