AiPD: Autoinhibited Protein Database

P46940

Gene name	IQGAP1 (KIAA0051)
Protein name	Ras GTPase-activating-like protein IQGAP1
Names	p195
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8826
EC number
Protein Class	RAS GTPASE-ACTIVATING PROTEIN WITH IQ MOTIF (PTHR14149)

Descriptions

Ras GTPase-activating-like protein IQGAP1 plays a crucial role in regulating the dynamics and assembly of the actin cytoskeleton. IQGAP1 binds directly nucleotide-depleted Cdc42 (Cdc42-ND) and may serve as a negative effector or sequester nucleotide-free Cdc42 to prevent signaling. The regions C1 (956-1274) and C2 (1276-1657) of IQGAP1 can either interact with nucleotide-free Cdc42, or interact together, depending on the phosphorylation state of Ser-1443. When Ser-1443 is not phosphorylated, C1 and C2 interact, which prevents binding of nucleotide-free Cdc42 and promotes binding of GTP-bound Cdc42. The phosphorylation of Ser-1443 prevents interaction between C1 and C2, which opens the structure of the C-terminus and allows binding and sequestration of nucleotide-free Cdc42 on both C1 and C2.

Autoinhibitory domains (AIDs)

Target domain	956-1274 (C1 fragments)
Relief mechanism	PTM
Assay	Mutagenesis experiment, Deletion assay

AID

1276-1657 (C2 fragments)

Target domain

956-1274 (C1 fragments)

Relief mechanism

PTM (Phosphorylation at Ser-1443)

Assay

Mutagenesis experiment, Deletion assay

Accessory elements

No accessory elements

References

Grohmanova K et al. (2004) "Phosphorylation of IQGAP1 modulates its binding to Cdc42, revealing a new type of rho-GTPase regulator", The Journal of biological chemistry, 279, 48495-504

Brandt DT et al. (2007) "Get to grips: steering local actin dynamics with IQGAPs", EMBO reports, 8, 1019-23

Autoinhibited structure

Activated structure

6 structures for P46940

Entry ID	Method	Resolution	Chain	Position	Source
1X0H	NMR	-	A	1559-1657	PDB
2RR8	NMR	-	A	26-210	PDB
3FAY	X-ray	220 A	A	962-1345	PDB
3I6X	X-ray	250 A	A/B/C/D	1-191	PDB
5L0O	X-ray	236 A	A/B/C/D	1-191	PDB
AF-P46940-F1	Predicted				AlphaFoldDB

1031 variants for P46940

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs557742415 CA274696226	2	S>F		No	ClinGen 1000Genomes
rs751916563 CA7736045	3	A>T		No	ClinGen ExAC gnomAD
CA7736046 rs757613212	3	A>V		No	ClinGen ExAC TOPMed gnomAD
CA393830078 rs1331613254	4	A>T		No	ClinGen gnomAD
CA7736047 rs781475321	4	A>V		No	ClinGen ExAC TOPMed gnomAD
rs756199960 CA393830087	5	D>E		No	ClinGen ExAC TOPMed gnomAD
rs756199960 CA7736049	5	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1352882278 CA393830082	5	D>Y		No	ClinGen gnomAD
CA274696297 rs748111139	6	E>D		No	ClinGen ExAC TOPMed gnomAD
rs779952729 CA274696285	6	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7736050 rs779952729	6	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA393830097 rs576012710	7	V>A		No	ClinGen 1000Genomes TOPMed gnomAD
rs576012710 CA274696302	7	V>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs1045337679 CA274696303	8	D>N		No	ClinGen TOPMed gnomAD
rs926973054 CA274696317	12	V>L		No	ClinGen TOPMed
rs202011081 CA7736057	13	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7736058 rs555474778 COSM1581054	13	A>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA393830134 rs1459485495	14	R>L		No	ClinGen gnomAD
CA7736059 rs774795827	14	R>W		No	ClinGen ExAC TOPMed gnomAD
rs764685689 CA7736061	15	P>A		No	ClinGen ExAC TOPMed gnomAD
CA7736063 rs757668259	17	Y>C		No	ClinGen ExAC gnomAD
CA7736064 rs767684173	18	G>A		No	ClinGen ExAC
CA7736084 rs201117605	19	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149599856 CA7736085	20	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA393830192 rs1256494120	22	D>G		No	ClinGen TOPMed gnomAD
CA7736087 rs766493603	23	N>K		No	ClinGen ExAC gnomAD
CA393830207 rs1160463198	24	E>G		No	ClinGen TOPMed
CA393830214 rs1391725238	25	R>K		No	ClinGen gnomAD
CA393830231 rs984534849	28	A>S		No	ClinGen TOPMed gnomAD
CA274698712 rs984534849	28	A>T		No	ClinGen TOPMed gnomAD
CA393830253 rs1436721808	31	M>V		No	ClinGen gnomAD
rs1344195532 CA393830276	34	R>G		No	ClinGen TOPMed gnomAD
rs1303492773 CA393830280	34	R>K		No	ClinGen gnomAD
CA393830292 rs1384528019	36	R>C		No	ClinGen TOPMed gnomAD
CA274698719 rs570821440	36	R>H		No	ClinGen Ensembl
rs1380686366 CA393830300	37	Q>*		No	ClinGen gnomAD
CA7736092 rs528066162	38	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA7736093 rs757103088	39	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1350667972 CA393830329	41	Y>F		No	ClinGen gnomAD
rs1301946755 CA393830325	41	Y>H		No	ClinGen gnomAD
rs781054862 CA7736094	49	E>A		No	ClinGen ExAC gnomAD
rs745638782 CA7736095	50	A>V		No	ClinGen ExAC gnomAD
CA274676517 rs144535337	56	A>T		No	ClinGen ESP gnomAD
CA393814627 rs1367623732	57	C>S		No	ClinGen TOPMed
rs554975896 CA7736128	60	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA393814668 rs1350739238	60	E>Q		No	ClinGen gnomAD
CA393814697 rs1434493898	61	D>E		No	ClinGen TOPMed
CA7736129 rs370211066	63	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA393814721 rs1323324255	64	P>T		No	ClinGen gnomAD
CA7736131 rs765432224	65	T>A		No	ClinGen ExAC gnomAD
rs752888383 CA7736132	67	E>D		No	ClinGen ExAC gnomAD
CA393814772 rs1252558787	68	L>V		No	ClinGen gnomAD
CA7736133 rs762909196	70	E>A		No	ClinGen ExAC gnomAD
CA7736136 rs767538173	70	E>D		No	ClinGen ExAC TOPMed gnomAD
rs767538173 CA7736135	70	E>D		No	ClinGen ExAC TOPMed gnomAD
rs984629387 CA274676545	70	E>K		No	ClinGen Ensembl
rs766276995 CA7736137	71	G>A		No	ClinGen ExAC TOPMed gnomAD
CA7736139 rs754739412	76	V>F		No	ClinGen ExAC gnomAD
CA7736140 rs778707305	76	V>G		No	ClinGen ExAC gnomAD
CA7736141 rs747736337	77	Y>C		No	ClinGen ExAC gnomAD
CA393814893 rs1309338123	79	A>S		No	ClinGen gnomAD
CA7736142 rs148447260	80	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA393814911 rs1350522327	80	K>Q		No	ClinGen gnomAD
rs1041698552 CA274676606	80	K>T		No	ClinGen TOPMed
CA393814988 rs1596260641	84	F>I		No	ClinGen Ensembl
CA7736143 rs777290308	84	F>Y		No	ClinGen ExAC gnomAD
rs747502677 CA7736144	85	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1294504399 CA393815031	86	S>C		No	ClinGen TOPMed gnomAD
CA393815030 rs1294504399	86	S>F		No	ClinGen TOPMed gnomAD
rs1596260649 CA393815056	87	P>L		No	ClinGen Ensembl
rs756050717 CA7736145	88	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1275486793 CA393815068	88	K>R		No	ClinGen gnomAD
CA393815092 rs1230374479	89	V>A		No	ClinGen TOPMed
rs1485410916 CA393815147	91	S>F		No	ClinGen gnomAD
rs1188426647 CA393815203	94	K>N		No	ClinGen TOPMed gnomAD
CA7736146 rs777037586	94	K>T		No	ClinGen ExAC gnomAD
CA393815209 rs746226653	95	I>L		No	ClinGen ExAC TOPMed gnomAD
rs746226653 CA7736147	95	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7736148 rs770042259	96	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA393815239 rs1186307637	96	Y>H		No	ClinGen gnomAD
rs777591579 CA7736149	98	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1375348378 CA393815432	101	T>I		No	ClinGen gnomAD
rs1349817721 CA393815460	102	R>T		No	ClinGen TOPMed
rs141742065 CA7736152	104	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs374105363 CA7736151	104	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs768861482 CA7736171	105	A>V		No	ClinGen ExAC TOPMed gnomAD
rs375124901 CA7736173	109	H>Q		No	ClinGen ESP ExAC gnomAD
CA274678985 rs890102860	109	H>Y		No	ClinGen TOPMed
rs1431017174 CA393816644	111	R>G		No	ClinGen TOPMed
rs1239482162 CA393816653	112	H>Y		No	ClinGen TOPMed
rs1457708216 CA393816660	113	T>A		No	ClinGen gnomAD
CA393816709 rs1467544298	119	W>C		No	ClinGen gnomAD
CA393816720 rs1567123482	121	N>Y		No	ClinGen Ensembl
rs766462868 CA7736174	123	M>V		No	ClinGen ExAC gnomAD
CA7736175 rs776690353	124	D>G		No	ClinGen ExAC TOPMed gnomAD
CA7736176 rs776690353	124	D>V		No	ClinGen ExAC TOPMed gnomAD
CA7736177 rs764973369	125	E>A		No	ClinGen ExAC gnomAD
rs762526956 CA7736179	130	K>E		No	ClinGen ExAC TOPMed gnomAD
rs761413481 CA7736201	131	I>T		No	ClinGen ExAC gnomAD
rs1410483989 CA393817568	137	T>A		No	ClinGen TOPMed gnomAD
rs1208492646 CA393817616	139	I>T		No	ClinGen gnomAD
CA7736203 rs540046631	139	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1266848037 CA393817643	140	Y>C		No	ClinGen gnomAD
rs1339327282 CA393817657	141	D>N		No	ClinGen gnomAD
rs780602986 CA393817680	142	R>*		No	ClinGen ExAC gnomAD
CA7736206 rs780602986	142	R>G		No	ClinGen ExAC gnomAD
CA393817745 rs1277354687	144	N>S		No	ClinGen gnomAD
CA274680983 rs749153268	145	M>I		No	ClinGen Ensembl
CA393817833 rs1255123975	149	I>V		No	ClinGen gnomAD
CA393817864 rs1274550504	150	Y>C		No	ClinGen TOPMed
CA7736210 rs772354298	150	Y>H		No	ClinGen ExAC
rs1189430649 CA393817920	152	I>V		No	ClinGen gnomAD
CA393819739 rs1440790587	158	Y>F		No	ClinGen gnomAD
CA393819912 rs1249644856	168	I>S		No	ClinGen gnomAD
CA7736238 rs772831986	169	Q>E		No	ClinGen ExAC gnomAD
CA274684226 rs979369521	177	F>V		No	ClinGen Ensembl
CA7736250 rs781342659	182	I>V		No	ClinGen ExAC gnomAD
rs1289853178 CA393820981	184	N>S		No	ClinGen gnomAD
rs745920816 CA7736251	185	M>V		No	ClinGen ExAC TOPMed gnomAD
CA393821025 rs1323482483	187	T>N		No	ClinGen gnomAD
CA393821067 rs1273776024	191	K>T		No	ClinGen gnomAD
CA7736254 rs747990441	192	Y>C		No	ClinGen ExAC gnomAD
rs1207308684 CA393821093	195	Q>E		No	ClinGen gnomAD
CA7736255 rs771880505	195	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1483044227 CA393821104	196	M>I		No	ClinGen gnomAD
CA274684934 rs886322891	196	M>V		No	ClinGen Ensembl
rs1408798685 CA393821108	197	P>A		No	ClinGen TOPMed
rs772844851 CA7736256	198	A>T		No	ClinGen ExAC gnomAD
CA393821133 rs1424937843	200	S>R		No	ClinGen gnomAD
CA7736257 rs746681918	202	I>L		No	ClinGen ExAC TOPMed gnomAD
CA393821145 rs1567126917	202	I>T		No	ClinGen Ensembl
rs770433909 CA7736258	203	G>R		No	ClinGen ExAC gnomAD
rs770433909 CA274684953	203	G>W		No	ClinGen ExAC gnomAD
CA393821178 rs1427267686	207	A>T		No	ClinGen gnomAD
CA393821187 rs1309313732	207	A>V		No	ClinGen gnomAD
rs532983206 CA7736259	208	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1300906521 CA393821240	212	V>M		No	ClinGen gnomAD
rs1381112985 CA393821283	215	A>D		No	ClinGen TOPMed gnomAD
rs1381112985 CA393821286	215	A>V		No	ClinGen TOPMed gnomAD
CA274684958 rs772573837	216	A>T		No	ClinGen TOPMed gnomAD
rs758267046 CA7736290	218	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs777640749 CA7736291	221	V>F		No	ClinGen ExAC gnomAD
rs1386140484 CA393821511	222	I>F		No	ClinGen gnomAD
CA393821521 rs1403541346	222	I>T		No	ClinGen TOPMed
CA274685609 rs878901306	223	A>S		No	ClinGen Ensembl
rs140613074 CA7736292	223	A>V		No	ClinGen ESP ExAC gnomAD
rs770683752 COSM321033 CA7736293	224	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA393821587 rs1468287144	227	A>T		No	ClinGen TOPMed
CA393821614 rs1330386319	229	D>N		No	ClinGen gnomAD
CA7736294 rs780678310	230	R>C		No	ClinGen ExAC gnomAD
rs372323221 CA7736295	230	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7736296 rs372323221	230	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7736297 rs775072015	231	R>G		No	ClinGen ExAC gnomAD
CA393821697 rs1189382865	235	D>G		No	ClinGen TOPMed
CA7736302 rs774843914	235	D>N		No	ClinGen ExAC gnomAD
CA393821711 rs1442868976	236	T>I		No	ClinGen TOPMed
CA393821717 rs1255385575	237	F>L		No	ClinGen TOPMed
CA274685661 rs865969402	239	A>V		No	ClinGen Ensembl
rs147782101 CA7736305	243	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147782101 CA7736306	243	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1227356160 CA393821848	246	M>T		No	ClinGen TOPMed
COSM1375421 rs753859958 CA7736308	246	M>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1326667907 CA393821862	247	L>F		No	ClinGen TOPMed
rs758389834 CA7736309	247	L>H		No	ClinGen ExAC TOPMed gnomAD
rs758389834 CA274685681	247	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1326667907 CA393821860	247	L>V		No	ClinGen TOPMed
CA7736310 rs139541147	248	V>I		No	ClinGen ESP ExAC gnomAD
CA7736311 rs139541147	248	V>L		No	ClinGen ESP ExAC gnomAD
CA393821897 rs1341504283	250	L>V		No	ClinGen TOPMed
rs374214826 CA7736312	253	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs12324924 VAR_049134 CA7736313	256	S>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1270630978 CA393821993	257	T>A		No	ClinGen gnomAD
CA7736315 rs769512178	260	D>G		No	ClinGen ExAC gnomAD
RCV000884341 CA7736316 rs138352975	261	I>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA7736317 rs748800809	263	Y>H		No	ClinGen ExAC gnomAD
rs1406071025 CA393822102	264	Q>L		No	ClinGen TOPMed
CA393822112 rs1409233313	265	A>P		No	ClinGen gnomAD
CA7736318 rs769243678	268	D>G		No	ClinGen ExAC gnomAD
CA393822201 rs1352486979	271	T>A		No	ClinGen gnomAD
rs1190616300 CA393822210	272	N>H		No	ClinGen gnomAD
CA7736320 rs149182787	272	N>S		No	ClinGen ESP ExAC gnomAD
rs143921317 CA7736321	273	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393822227 rs143921317	273	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1429350517 CA393822252	275	N>D		No	ClinGen TOPMed gnomAD
rs781764581 CA7736347	279	N>D		No	ClinGen ExAC gnomAD
CA7736348 rs781764581	279	N>H		No	ClinGen ExAC gnomAD
CA393823181 rs1440500471	279	N>I		No	ClinGen TOPMed gnomAD
rs1328420091 CA393823264	282	R>G		No	ClinGen TOPMed
CA7736349 rs761713635	282	R>T		No	ClinGen ExAC gnomAD
rs1319295113 CA393823318	283	E>D		No	ClinGen TOPMed
rs767556529 CA7736350	284	R>K		No	ClinGen ExAC gnomAD
rs182710515 CA7736351	285	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7736354 rs142409718	292	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA393823586 rs1160956663	293	Q>E		No	ClinGen TOPMed
CA393823582 rs1160956663	293	Q>K		No	ClinGen TOPMed
rs1210258027 CA393823650	295	E>K		No	ClinGen gnomAD
CA274686897 rs867986601	297	Q>R		No	ClinGen Ensembl
rs1398158420 CA393823777	299	N>S		No	ClinGen gnomAD
rs1373280777 CA393823795	300	I>T		No	ClinGen TOPMed
CA7736358 rs758898382	300	I>V		No	ClinGen ExAC gnomAD
CA7736360 rs371374945	303	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA7736361 rs771309889	304	N>D		No	ClinGen ExAC gnomAD
rs1327706122 CA393823906	304	N>S		No	ClinGen gnomAD
rs146864760 CA7736380	308	A>T		No	ClinGen ESP ExAC gnomAD
rs140748246 CA274692447	308	A>V		No	ClinGen ESP gnomAD
CA393825694 rs1369201160	310	A>V		No	ClinGen TOPMed
CA7736383 rs746238520	312	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7736382 rs201193336	312	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7736384 rs769948746	313	D>N		No	ClinGen ExAC TOPMed gnomAD
CA393825773 rs1346365427	314	L>P		No	ClinGen gnomAD
rs1026584337 CA274692481	317	E>G		No	ClinGen Ensembl
CA7736386 rs749417053	317	E>K		No	ClinGen ExAC gnomAD
CA393825931 rs1259601867	320	D>G		No	ClinGen TOPMed
rs1406190273 CA393825942	321	A>T		No	ClinGen gnomAD
rs1303390042 CA393825958	321	A>V		No	ClinGen TOPMed gnomAD
rs1349420779 CA393825976	322	L>Q		No	ClinGen gnomAD
CA393825994 rs774502043	323	A>D		No	ClinGen ExAC gnomAD
CA274692482 rs774502043	323	A>G		No	ClinGen ExAC gnomAD
CA7736388 rs774502043	323	A>V		No	ClinGen ExAC gnomAD
CA274692486 rs549269141	325	F>L		No	ClinGen 1000Genomes
rs567511476 CA7736390	326	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA393826046 rs1321888523	326	R>K		No	ClinGen gnomAD
rs528501086 CA7736391	326	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs910255492 CA274692510	329	Q>*		No	ClinGen Ensembl
rs752416549 CA7736394	330	S>L		No	ClinGen ExAC gnomAD
rs1179368440 CA393826370	331	P>S		No	ClinGen gnomAD
rs1409133844 CA393826378	332	A>S		No	ClinGen gnomAD
rs763600917 CA7736396	335	L>I		No	ClinGen ExAC TOPMed gnomAD
rs751054433 CA7736397	336	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768035842 CA7736399	337	G>E		No	ClinGen ExAC gnomAD
rs546748838 CA7736398	337	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs546748838 CA393826433	337	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs750799410 CA7736400	338	L>P		No	ClinGen ExAC gnomAD
rs1439536345 CA393826480	340	Q>R		No	ClinGen gnomAD
rs756518888 CA7736401	341	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA7736402 rs780238754	343	S>N		No	ClinGen ExAC gnomAD
CA7736403 rs138254672	344	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1326312016 CA393826589	346	Y>H		No	ClinGen TOPMed
CA274692545 rs144494919	351	L>M		No	ClinGen gnomAD
CA7736405 rs779193983	352	S>N		No	ClinGen ExAC gnomAD
rs140946408 CA7736406	353	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA393826699 rs1233618539	353	D>G		No	ClinGen gnomAD
CA7736407 rs771035699	354	K>I		No	ClinGen ExAC gnomAD
rs1302705727 CA393826752	356	Q>R		No	ClinGen TOPMed
rs1445748216 CA393826793	358	R>I		No	ClinGen TOPMed gnomAD
CA393826807 rs1372698997	359	Q>P		No	ClinGen TOPMed
rs1187760827 CA393826942	360	S>G		No	ClinGen gnomAD
CA7736423 rs779250934	360	S>I		No	ClinGen ExAC TOPMed gnomAD
rs150209503 CA7736424	364	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150209503 CA393827007	364	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393827011 rs777675161	365	P>A		No	ClinGen ExAC gnomAD
rs1290580947 CA393827017	365	P>R		No	ClinGen TOPMed
CA7736426 rs777675161	365	P>T		No	ClinGen ExAC gnomAD
CA7736427 rs745825285	367	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs139093304 CA274693040	371	L>V		No	ClinGen 1000Genomes gnomAD
rs1433059168 CA393827096	372	Q>R		No	ClinGen gnomAD
rs775328841 CA7736429	374	G>A		No	ClinGen ExAC gnomAD
CA393827106 rs1367227891	374	G>R		No	ClinGen gnomAD
rs1039261074 CA274693047	375	V>E		No	ClinGen Ensembl
CA7736431 rs768345330	375	V>M		No	ClinGen ExAC gnomAD
rs774010358 CA7736432	377	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1228753431 CA393827131	377	A>T		No	ClinGen TOPMed
CA393827138 rs774010358	377	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1596272055 CA393827164	380	S>C		No	ClinGen Ensembl
rs1406877589 CA393827170	380	S>R		No	ClinGen TOPMed
CA7736436 rs761306015	384	Q>*		No	ClinGen ExAC gnomAD
CA393828090 rs1567131158	388	R>K		No	ClinGen Ensembl
rs1412898673 CA393828098	389	L>S		No	ClinGen TOPMed gnomAD
rs753055022 CA393828103	390	A>P		No	ClinGen ExAC TOPMed gnomAD
rs753055022 CA7736460	390	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1165532986 CA393828104	390	A>V		No	ClinGen gnomAD
rs540931925 CA7736462	393	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs757305867 CA7736464	397	A>T		No	ClinGen ExAC gnomAD
rs781205005 CA393828150	398	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7736465 rs781205005	398	A>T		No	ClinGen ExAC TOPMed gnomAD
CA393828158 rs1243209896	399	I>T		No	ClinGen gnomAD
CA393828162 rs753776144	400	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs753776144 CA7736466	400	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs754848833 CA7736467	400	Q>R		No	ClinGen ExAC gnomAD
CA393828181 rs1248366803	403	V>I		No	ClinGen TOPMed
CA7736468 rs778736237	406	K>N		No	ClinGen ExAC gnomAD
CA393828217 rs1194232412	408	V>A		No	ClinGen TOPMed
CA393828223 rs1467639198	409	L>S		No	ClinGen TOPMed
rs747894331 CA7736469	413	N>T		No	ClinGen ExAC gnomAD
rs777272899 CA7736471	414	P>H		No	ClinGen ExAC TOPMed gnomAD
rs777272899 CA7736472	414	P>R		No	ClinGen ExAC TOPMed gnomAD
rs771799780 CA7736470	414	P>S		No	ClinGen ExAC TOPMed gnomAD
COSM254744 CA7736474 rs200988874	415	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1385976549 CA393828268	416	A>S		No	ClinGen TOPMed gnomAD
CA393828266 rs1385976549	416	A>T		No	ClinGen TOPMed gnomAD
CA7736475 rs760135487	417	Q>H		No	ClinGen ExAC gnomAD
CA393828288 rs1398823175	419	P>R		No	ClinGen gnomAD
CA393828294 rs1333903783	420	Q>R		No	ClinGen gnomAD
rs763204118 CA7736478	422	Y>S		No	ClinGen ExAC gnomAD
CA274694440 rs868836341	423	P>L		No	ClinGen Ensembl
CA7736479 rs764469490	423	P>T		No	ClinGen ExAC gnomAD
CA7736481 COSM966492 rs545056140	426	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA7736482 rs375355779	427	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA274694447 rs200383967	429	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7736484 rs200383967	429	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393828386 rs1243615636	434	A>G		No	ClinGen TOPMed gnomAD
CA393828387 rs1243615636	434	A>V		No	ClinGen TOPMed gnomAD
CA274694499 rs919910935	435	T>A		No	ClinGen gnomAD
CA393828389 rs919910935	435	T>S		No	ClinGen gnomAD
rs756912806 CA7736490 COSM702131	438	R>Q	lung haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7736492 rs745368808	440	S>R		No	ClinGen ExAC gnomAD
rs775881736 CA393828434	442	E>G		No	ClinGen ExAC gnomAD
rs770471372 CA7736493	442	E>Q		No	ClinGen ExAC gnomAD
rs775881736 CA7736494	442	E>V		No	ClinGen ExAC gnomAD
rs770924340 CA7736521	443	H>R		No	ClinGen ExAC gnomAD
CA393828456 rs1161934227	444	N>H		No	ClinGen TOPMed gnomAD
rs1161934227 CA393828458	444	N>Y		No	ClinGen TOPMed gnomAD
rs200444557 CA274694689	446	T>P		No	ClinGen TOPMed
rs1419845800 CA393828520	449	E>G		No	ClinGen gnomAD
CA393828528 rs1363378654	450	L>V		No	ClinGen gnomAD
rs372025987 CA274694700	453	A>T		No	ClinGen TOPMed gnomAD
rs751442458 CA7736525	454	V>G		No	ClinGen ExAC
rs534844505 CA7736524	454	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs553287794 CA7736526	455	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA7736527 rs374115874	456	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7736528 rs546591604	459	S>L		No	ClinGen ExAC gnomAD
CA393828734 rs1250916445	466	A>T		No	ClinGen gnomAD
rs1179312179 CA393828749	467	L>V		No	ClinGen gnomAD
CA274694777 rs937374202	468	E>A		No	ClinGen TOPMed gnomAD
rs1251938861 CA393828762	468	E>K		No	ClinGen gnomAD
rs755475661 CA7736533	472	V>G		No	ClinGen ExAC gnomAD
CA393828854 rs1165055000	475	V>L		No	ClinGen TOPMed gnomAD
rs1460328151 CA393828952	481	S>R		No	ClinGen gnomAD
CA7736535 rs748607996	482	S>L		No	ClinGen ExAC gnomAD
CA7736536 rs772460394	484	T>I		No	ClinGen ExAC gnomAD
CA393829006 rs1312776033	487	T>I		No	ClinGen gnomAD
rs778049563 CA7736537	488	N>D		No	ClinGen ExAC gnomAD
CA7736538 rs568017868	488	N>S		No	ClinGen ExAC gnomAD
rs564127865 CA7736539	489	I>S		No	ClinGen ExAC gnomAD
CA274694843 rs564127865	489	I>T		No	ClinGen ExAC gnomAD
rs952682642 CA274694833	489	I>V		No	ClinGen gnomAD
CA7736542 rs138917240	494	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA393829056 rs1337102559	495	Q>*		No	ClinGen TOPMed
CA393829157 rs1433071315	499	D>E		No	ClinGen gnomAD
CA7736569 rs759044255	499	D>N		No	ClinGen ExAC gnomAD
rs1282705203 CA393829210	504	L>V		No	ClinGen gnomAD
rs752194177 CA7736571	505	K>N		No	ClinGen ExAC TOPMed gnomAD
CA274695545 rs892447359	508	A>T		No	ClinGen Ensembl
CA393829273 rs1215101328	509	H>Q		No	ClinGen TOPMed
CA7736574 rs751921106	512	N>S		No	ClinGen ExAC gnomAD
rs757669487 CA7736575	513	N>D		No	ClinGen ExAC gnomAD
CA393829319 rs1270814450	514	E>K		No	ClinGen TOPMed gnomAD
rs781341708 CA7736576	516	I>V		No	ClinGen ExAC gnomAD
rs1405614337 CA393829362	517	T>R		No	ClinGen gnomAD
rs746111782 CA7736577	519	N>T		No	ClinGen ExAC gnomAD
CA274695556 rs927632974	520	D>V		No	ClinGen TOPMed
CA393829408 rs1596274660	521	I>T		No	ClinGen Ensembl
rs142929274 CA393829450	524	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7736580 rs147346534	525	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768410439 CA274695564	527	H>Q		No	ClinGen ExAC gnomAD
rs768410439 CA7736581	527	H>Q		No	ClinGen ExAC gnomAD
CA7736582 rs773302074	531	V>A		No	ClinGen ExAC gnomAD
rs770765432 CA7736584	532	V>L		No	ClinGen ExAC gnomAD
rs759291442 CA7736586	533	Q>H		No	ClinGen ExAC gnomAD
CA7736585 rs776231641	533	Q>R		No	ClinGen ExAC gnomAD
rs143727479 CA7736588	534	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1219821145 CA393829561	537	E>K		No	ClinGen TOPMed gnomAD
CA7736607 rs769488383	538	R>K		No	ClinGen ExAC TOPMed gnomAD
rs769488383 CA393829585	538	R>M		No	ClinGen ExAC TOPMed gnomAD
CA7736608 rs374583771	538	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs768165333 CA7736610	541	A>T		No	ClinGen ExAC
CA7736612 rs762446046	542	I>L		No	ClinGen ExAC TOPMed gnomAD
rs142519469 CA393829653	548	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs142519469 CA7736613	548	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7736614 rs750848093	551	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1450857228 CA393829688	553	D>E		No	ClinGen gnomAD
CA7736616 rs766807347	555	Q>R		No	ClinGen ExAC
CA274696531 rs904218163	557	T>I		No	ClinGen Ensembl
CA7736617 rs754119884	557	T>S		No	ClinGen ExAC gnomAD
rs1340507279 CA393829718	558	L>R		No	ClinGen gnomAD
CA393829715 rs1188619166	558	L>V		No	ClinGen gnomAD
rs368008601 CA274696538	560	A>T		No	ClinGen ESP TOPMed gnomAD
CA7736620 rs752716090	562	Q>R		No	ClinGen ExAC gnomAD
rs1166685205 CA393829755	564	P>L		No	ClinGen gnomAD
CA7736621 rs757263993	564	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1478526272 CA393829762	566	A>T		No	ClinGen TOPMed
CA393829777 rs1429030968	568	L>V		No	ClinGen TOPMed
rs780972743 CA7736622	570	G>E		No	ClinGen ExAC gnomAD
rs1484337186 CA393829807	573	A>T		No	ClinGen TOPMed
rs745759243 CA7736623	574	E>D		No	ClinGen ExAC gnomAD
rs139518192 CA7736624	575	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs779764919 CA7736625	576	A>V		No	ClinGen ExAC gnomAD
rs748994449 CA7736626	577	Q>E		No	ClinGen ExAC gnomAD
CA7736627 rs768185498	580	Q>R		No	ClinGen ExAC gnomAD
CA7736628 rs773948744	582	T>A		No	ClinGen ExAC gnomAD
rs761206607 CA7736629	582	T>M		No	ClinGen ExAC TOPMed gnomAD
rs376691675 CA7736632	584	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7736633 rs761198937	586	A>E		No	ClinGen ExAC gnomAD
rs761198937 CA7736634	586	A>V		No	ClinGen ExAC gnomAD
CA393829957 rs1288320521	589	E>A		No	ClinGen gnomAD
rs1278951644 CA393829992	592	Q>L		No	ClinGen TOPMed
CA274704152 rs1018033398	594	I>T		No	ClinGen Ensembl
rs771486243 CA7736648	596	D>G		No	ClinGen ExAC gnomAD
rs1215929223 CA393830428	597	E>A		No	ClinGen gnomAD
rs143796914 CA7736649	608	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1288215544 CA393830581	610	I>L		No	ClinGen gnomAD
CA7736650 rs747578818	611	W>R		No	ClinGen ExAC gnomAD
rs771560871 CA7736651	614	N>K		No	ClinGen ExAC TOPMed gnomAD
rs777177213 CA7736652	616	D>N		No	ClinGen ExAC gnomAD
CA274704188 rs765343216	617	T>A		No	ClinGen TOPMed gnomAD
CA393830679 rs1210797212	617	T>I		No	ClinGen gnomAD
CA7736653 rs759961601	618	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs765592447 CA7736654	619	E>V		No	ClinGen ExAC gnomAD
CA7736657 rs764134660	620	A>G		No	ClinGen ExAC gnomAD
CA7736656 rs763171893	620	A>T		No	ClinGen ExAC gnomAD
CA274704209 rs79105785	621	Q>K		No	ClinGen Ensembl
rs751631618 CA7736658	621	Q>P		No	ClinGen ExAC gnomAD
CA393830725 rs1347748733	622	K>T		No	ClinGen gnomAD
CA393830785 rs1414039564	624	A>S		No	ClinGen TOPMed
rs1381380976 CA393830788	624	A>V		No	ClinGen gnomAD
rs1472671507 CA393830845	630	I>M		No	ClinGen TOPMed
CA7736679 rs374417216	630	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1236091449 CA393830853	631	N>S		No	ClinGen TOPMed
COSM389167 rs754885195 CA7736681	633	A>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1323419763 CA393830899	635	E>D		No	ClinGen gnomAD
rs755347872 CA7736683	635	E>G		No	ClinGen ExAC gnomAD
rs1567135617 CA393830924	638	D>N		No	ClinGen Ensembl
CA7736684 rs758026869	639	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1413368817 CA393830962	641	K>E		No	ClinGen gnomAD
CA7736685 rs144474548	642	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs551596531 CA7736686	643	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs780784277 COSM966495 CA7736688	647	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs537375082 CA7736689	647	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1027248442 CA274704456	648	S>C		No	ClinGen TOPMed
rs200809897 CA274704483	650	D>G		No	ClinGen TOPMed
CA393831112 rs1469260439	656	V>I		No	ClinGen gnomAD
CA393831123 rs1173813578	657	I>V		No	ClinGen gnomAD
CA274704490 rs888739893	661	G>D		No	ClinGen gnomAD
rs768956893 CA7736693	665	H>R		No	ClinGen ExAC
CA393831246 rs1338692579	667	D>V		No	ClinGen gnomAD
rs774586260 CA7736694	668	L>F		No	ClinGen ExAC gnomAD
rs1007044446 CA274704496	669	A>S		No	ClinGen Ensembl
CA393831290 rs1218002658	672	K>E		No	ClinGen gnomAD
rs761955904 CA7736695	674	K>E		No	ClinGen ExAC gnomAD
rs201622415 CA7736696	675	K>E		No	ClinGen ExAC gnomAD
rs773327453 CA7736697	676	L>R		No	ClinGen ExAC gnomAD
CA7736699 rs765189988	677	A>V		No	ClinGen ExAC gnomAD
rs1211585540 CA393831349	678	V>I		No	ClinGen gnomAD
rs763996805 CA7736722	679	G>V		No	ClinGen ExAC
CA393831520 rs1168965123	681	N>S		No	ClinGen TOPMed
rs751389414 CA7736723	683	S>G		No	ClinGen ExAC gnomAD
CA274705420 rs993839651	683	S>N		No	ClinGen Ensembl
rs1176843929 CA393831549	685	W>L		No	ClinGen gnomAD
CA393831572 rs1404001744	688	H>R		No	ClinGen gnomAD
rs1375105088 CA393831568	688	H>Y		No	ClinGen TOPMed gnomAD
CA393831589 rs1325909392	690	V>A		No	ClinGen gnomAD
rs1442149855 CA393831605	693	G>R		No	ClinGen gnomAD
CA393831625 rs767174403	695	Y>*		No	ClinGen ExAC gnomAD
CA274705434 rs1042073179	696	Y>C		No	ClinGen TOPMed gnomAD
CA393831645 rs1193220665	698	H>P		No	ClinGen TOPMed
rs902140093 CA274705438	701	E>Q		No	ClinGen TOPMed
CA393831684 rs1355177923	704	E>K		No	ClinGen gnomAD
rs1226434989 CA393831695	705	G>E		No	ClinGen gnomAD
CA7736727 rs755677652	709	E>K		No	ClinGen ExAC gnomAD
rs149127134 CA7736729	711	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs755462943 CA7736730	712	N>D		No	ClinGen ExAC TOPMed gnomAD
rs779315536 CA7736731	713	F>C		No	ClinGen ExAC gnomAD
rs748481299 CA7736732	714	V>L		No	ClinGen ExAC TOPMed gnomAD
CA393831760 rs1567136073	715	Q>K		No	ClinGen Ensembl
rs1384892043 CA393831774	717	S>P		No	ClinGen gnomAD
CA7736735 rs747163147	718	M>I		No	ClinGen ExAC TOPMed gnomAD
rs758668892 CA7736734	718	M>L		No	ClinGen ExAC TOPMed gnomAD
CA393831782 rs1165171385	718	M>T		No	ClinGen gnomAD
rs758668892 CA7736733	718	M>V		No	ClinGen ExAC TOPMed gnomAD
CA7736736 rs771049690	720	L>F		No	ClinGen ExAC TOPMed gnomAD
CA393831828 rs1403061892	722	R>L		No	ClinGen gnomAD
rs1330003231 CA393831822	722	R>W		No	ClinGen gnomAD
CA7736737 rs562641683	723	E>K		No	ClinGen ExAC gnomAD
CA7736738 rs372432449	726	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372432449 CA7736739	726	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs771576372 CA274709340	729	I>V		No	ClinGen TOPMed gnomAD
rs572521835 CA7736755	731	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA274709346 rs997846298	733	T>S		No	ClinGen TOPMed gnomAD
CA393832605 rs1265827340	734	A>T		No	ClinGen gnomAD
CA7736756 rs372623251	735	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA393832626 rs1385522193	735	A>V		No	ClinGen TOPMed
rs1464156579 CA393832636	736	Y>C		No	ClinGen TOPMed gnomAD
CA7736757 rs774458821	736	Y>H		No	ClinGen ExAC gnomAD
rs183961458 CA274709359	737	N>I		No	ClinGen 1000Genomes
CA7736758 rs748028504	738	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA274709376 rs377496381	741	L>P		No	ClinGen ESP ExAC gnomAD
CA7736759 rs377496381	741	L>Q		No	ClinGen ESP ExAC gnomAD
rs772867237 CA7736760	743	L>V		No	ClinGen ExAC
rs760441867 CA7736762	744	A>S		No	ClinGen ExAC gnomAD
CA7736761 rs760441867	744	A>T		No	ClinGen ExAC gnomAD
rs1194371596 CA393832739	745	N>S		No	ClinGen TOPMed gnomAD
rs1300573499 CA393832759	746	E>D		No	ClinGen gnomAD
CA393832770 rs1329250155	747	G>D		No	ClinGen gnomAD
rs1596284103 CA393832776	748	L>P		No	ClinGen Ensembl
CA7736764 rs759069551	751	R>M		No	ClinGen ExAC gnomAD
CA7736765 rs764688650	752	L>V		No	ClinGen ExAC TOPMed gnomAD
CA393832848 rs1596284118	754	A>P		No	ClinGen Ensembl
rs1288348944 CA393832857	755	R>C		No	ClinGen gnomAD
rs1288348944 CA393832856	755	R>G		No	ClinGen gnomAD
CA7736767 COSM1285567 rs200740824	755	R>H	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs200740824 CA7736768	755	R>P		No	ClinGen ExAC TOPMed gnomAD
CA393832868 rs1209603764	756	C>S		No	ClinGen gnomAD
CA7736769 rs751869935	757	R>C		No	ClinGen ExAC gnomAD
rs751869935 CA7736770	757	R>G		No	ClinGen ExAC gnomAD
CA7736771 rs564402284	757	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564402284 CA393832877	757	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564402284 CA393832876	757	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393832875 rs751869935	757	R>S		No	ClinGen ExAC gnomAD
CA7736773 rs370030365	758	G>R		No	ClinGen ESP ExAC gnomAD
rs780223589 CA7736774	759	Y>C		No	ClinGen ExAC gnomAD
rs748152974 CA7736775	761	V>G		No	ClinGen ExAC gnomAD
CA393832921 rs1454159884	762	R>*		No	ClinGen gnomAD
CA274709506 rs779831069	762	R>P		No	ClinGen ExAC gnomAD
rs779831069 CA7736777	762	R>Q		No	ClinGen ExAC gnomAD
rs746758650 CA7736778	763	Q>P		No	ClinGen ExAC gnomAD
rs776298463 CA7736780	764	E>K		No	ClinGen ExAC gnomAD
rs1238053276 CA393832960	766	R>*		No	ClinGen gnomAD
rs980602514 CA274709524	766	R>L		No	ClinGen TOPMed gnomAD
CA393832962 COSM966496 rs980602514	766	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs759122905 CA7736781	767	S>F		No	ClinGen ExAC gnomAD
CA274709554 rs938663761	768	R>S		No	ClinGen TOPMed gnomAD
rs377667554 CA7736783	769	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA393833045 rs1343851897	774	K>E		No	ClinGen TOPMed
rs764481935 CA7736785	777	P>L		No	ClinGen ExAC gnomAD
CA393833125 rs1381817208	781	C>Y		No	ClinGen gnomAD
CA393833726 rs1465602207	786	W>L		No	ClinGen gnomAD
CA393833760 rs1301372292	789	Y>C		No	ClinGen gnomAD
rs964339223 CA274710054	790	K>Q		No	ClinGen Ensembl
rs1246844415 CA393833802	793	K>T		No	ClinGen TOPMed
CA393833807 rs1415821463	794	A>T		No	ClinGen gnomAD
CA393833842 rs1277994687	796	Q>R		No	ClinGen TOPMed gnomAD
rs762319697 CA7736805	798	R>G		No	ClinGen ExAC gnomAD
rs773706434 CA7736806	798	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs762319697 CA7736804	798	R>W		No	ClinGen ExAC gnomAD
rs754043460 CA7736809	801	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs765296182 CA7736811	803	R>C		No	ClinGen ExAC TOPMed gnomAD
rs190515009 CA7736812 COSM1210860	803	R>H	liver large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1476679011 CA393833978	806	K>E		No	ClinGen TOPMed gnomAD
rs781034911 CA7736814	806	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1195840524 CA393833986	806	K>R		No	ClinGen gnomAD
CA7736815 rs745636288	809	V>L		No	ClinGen ExAC gnomAD
rs755816222 CA7736816	811	K>R		No	ClinGen ExAC gnomAD
rs779837685 CA7736834	812	I>M		No	ClinGen ExAC gnomAD
CA393834112 rs1434976730	813	Q>E		No	ClinGen gnomAD
rs748949609 CA7736835	814	S>A		No	ClinGen ExAC gnomAD
CA7736840 rs778455877	819	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA274710237 rs747453765	821	A>G		No	ClinGen ExAC gnomAD
CA393834279 rs1200701738	821	A>T		No	ClinGen TOPMed
CA7736841 rs747453765	821	A>V		No	ClinGen ExAC gnomAD
CA393834304 rs1219291896	822	R>G		No	ClinGen gnomAD
rs199859960 CA7736842	822	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA7736843 rs777042927	824	R>C		No	ClinGen ExAC gnomAD
rs569854403 CA7736844	824	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7736845 rs569854403	824	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7736847 rs763047169	825	Y>F		No	ClinGen ExAC gnomAD
CA7736846 rs775484981	825	Y>H		No	ClinGen ExAC gnomAD
rs764089739 CA7736848	826	R>*		No	ClinGen ExAC gnomAD
CA7736849 rs750370291	826	R>Q		No	ClinGen ExAC gnomAD
rs1266443562 CA393834374	827	D>N		No	ClinGen TOPMed
rs760590112 CA7736850	828	R>C		No	ClinGen ExAC gnomAD
rs766151531 CA7736851	828	R>H		No	ClinGen ExAC TOPMed gnomAD
rs766151531 CA393834394	828	R>L		No	ClinGen ExAC TOPMed gnomAD
CA393834416 rs1395826973	830	Q>H		No	ClinGen gnomAD
rs754634507 CA7736853	832	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7736855 rs372386381	833	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7736854 rs530859073	833	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs757987204 CA7736856	835	H>R		No	ClinGen ExAC gnomAD
CA274710392 rs963220039	837	N>D		No	ClinGen TOPMed
CA7736884 rs749575386	839	I>V		No	ClinGen ExAC gnomAD
rs1192212674 CA393834580	841	K>E		No	ClinGen gnomAD
rs1192212674 CA393834578	841	K>Q		No	ClinGen gnomAD
rs768832456 CA7736885	842	I>L		No	ClinGen ExAC gnomAD
CA7736888 rs200986365	846	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1314271863 CA393834653	847	R>Q		No	ClinGen gnomAD
CA393834652 COSM1678685 rs1412422851	847	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1596284901 CA393834666	848	A>V		No	ClinGen Ensembl
CA7736891 rs765182336	849	N>D		No	ClinGen ExAC gnomAD
CA393834700 rs1343875558	851	A>G		No	ClinGen TOPMed
rs1016953832 CA274710417	852	R>Q		No	ClinGen gnomAD
CA7736894 rs763818843	856	K>R		No	ClinGen ExAC TOPMed gnomAD
CA7736915 rs201446255	860	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7736916 rs756660671	862	E>D		No	ClinGen ExAC gnomAD
CA274710681 rs942695274	862	E>G		No	ClinGen TOPMed gnomAD
rs774143236 CA274710667	862	E>K		No	ClinGen gnomAD
CA274710692 rs959006091	865	P>S		No	ClinGen Ensembl
CA7736917 rs766891633	866	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1443253762 CA393834945	870	R>*		No	ClinGen TOPMed gnomAD
rs138856991 CA7736919	870	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7736920 rs779199150	874	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1309342277 CA393835043	878	Q>H		No	ClinGen gnomAD
rs1336793517 CA393835049	879	S>N		No	ClinGen gnomAD
rs1251748183 CA393835045	879	S>R		No	ClinGen TOPMed
rs753012998 CA7736921	880	D>A		No	ClinGen ExAC gnomAD
rs1264241453 CA393835133	886	E>K		No	ClinGen gnomAD
rs758517504 CA7736922	888	D>H		No	ClinGen ExAC TOPMed gnomAD
CA7736923 rs142816966	891	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747044685 CA7736924	892	M>V		No	ClinGen ExAC gnomAD
rs200076350 CA7736925	893	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7736926 rs550231448	893	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200076350 CA274710712	893	R>W		No	ClinGen ExAC TOPMed gnomAD
rs768590370 CA7736928	898	T>I		No	ClinGen ExAC gnomAD
rs1186543332 CA393835270	899	L>F		No	ClinGen gnomAD
COSM108438 rs147812120 CA274710762	901	R>C	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs537204733 CA7736932	901	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs537204733 CA274710775	901	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs760183758 CA7736933	903	N>K		No	ClinGen ExAC gnomAD
CA393835360 rs1218498397	907	E>A		No	ClinGen TOPMed
rs1345604997 CA393835397	910	L>F		No	ClinGen TOPMed
rs556025648 CA7736935	911	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7736936 rs760013998	914	D>Y		No	ClinGen ExAC gnomAD
rs1375466841 CA393835490	919	L>V		No	ClinGen TOPMed
rs1449691651 CA393835498	920	L>V		No	ClinGen TOPMed
CA393836301 rs1196241525	931	V>I		No	ClinGen TOPMed
CA274712143 rs76421102 COSM161763	932	S>F	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
CA393836385 rs1307668035	937	L>H		No	ClinGen gnomAD
CA393836384 rs1392915796	937	L>I		No	ClinGen gnomAD
rs778722659 CA7736967	938	T>I		No	ClinGen ExAC gnomAD
rs778722659 CA393836391	938	T>N		No	ClinGen ExAC gnomAD
rs935936935 CA274712148	939	K>R		No	ClinGen TOPMed
CA7736969 rs748080058	943	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1158454646 CA393836463	948	M>T		No	ClinGen gnomAD
CA7736971 rs777602131	948	M>V		No	ClinGen ExAC TOPMed gnomAD
CA7736972 rs138093554	949	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA393836472 rs1343756264	949	M>T		No	ClinGen gnomAD
rs1255502543 CA393836491	951	I>M		No	ClinGen TOPMed
rs894306941 CA274712165	952	N>K		No	ClinGen Ensembl
rs1054257188 CA274712161	952	N>S		No	ClinGen Ensembl
rs1289896676 CA393836518	955	K>R		No	ClinGen gnomAD
CA393836550 rs1596286379	960	A>S		No	ClinGen Ensembl
rs1319021984 CA393836567	962	S>R		No	ClinGen TOPMed
rs770565886 CA7736973	964	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs776174873 CA7736974	965	K>E		No	ClinGen ExAC gnomAD
rs1300869096 CA393836586	965	K>T		No	ClinGen gnomAD
CA7736976 rs769278409	967	E>D		No	ClinGen ExAC gnomAD
CA7736975 rs745393741	967	E>K		No	ClinGen ExAC gnomAD
rs1285059696 CA393836605	968	K>E		No	ClinGen gnomAD
CA393836650 rs1596286399	974	H>Y		No	ClinGen Ensembl
CA393836657 rs1217943813	975	L>M		No	ClinGen gnomAD
rs1242615773 CA393836667	976	F>C		No	ClinGen gnomAD
CA393836669 rs1488224029	976	F>L		No	ClinGen gnomAD
CA274712189 rs983492228	978	L>V		No	ClinGen TOPMed
rs1210365546 CA393836688	979	L>F		No	ClinGen gnomAD
CA7736978 rs763463865	979	L>S		No	ClinGen ExAC gnomAD
rs1254928289 CA393836693	980	Q>P		No	ClinGen gnomAD
rs1178112533 CA393836733	984	T>I		No	ClinGen gnomAD
rs1463767909 CA393836738	985	Y>C		No	ClinGen TOPMed
rs1167644742 CA393836769	990	I>T		No	ClinGen gnomAD
CA7736990 rs750773364	990	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7736991 rs756987206	1002	M>T		No	ClinGen ExAC gnomAD
CA393836865 rs1327821290	1003	D>H		No	ClinGen gnomAD
rs1352368030 CA393836873	1004	S>P		No	ClinGen gnomAD
CA393836936 rs1231387306	1013	A>T		No	ClinGen gnomAD
CA274712355 rs867613575	1013	A>V		No	ClinGen Ensembl
CA393836961 rs1172701878	1016	Q>H		No	ClinGen gnomAD
rs1335615726 CA393836966	1017	R>Q		No	ClinGen gnomAD
rs1195283809 CA393836979	1019	E>G		No	ClinGen gnomAD
rs1002554111 CA274712384	1024	R>Q		No	ClinGen TOPMed gnomAD
rs1432440552 CA393837008	1024	R>W		No	ClinGen TOPMed
rs77268329 CA274712402	1027	K>*		No	ClinGen Ensembl
rs773592200 CA7737002	1027	K>R		No	ClinGen ExAC TOPMed gnomAD
CA7737001 rs773592200	1027	K>T		No	ClinGen ExAC TOPMed gnomAD
CA393837035 rs1419178854	1028	T>I		No	ClinGen TOPMed gnomAD
rs371671746 CA7737003	1031	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1411316569 CA393837069	1032	E>D		No	ClinGen gnomAD
rs1416705838 CA393837060	1032	E>K		No	ClinGen gnomAD
rs201358762 CA7737024	1036	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs769539902 CA274712781	1039	D>E		No	ClinGen Ensembl
rs866656590 CA274712787	1042	Q>R		No	ClinGen Ensembl
rs1388244542 CA393837462	1050	T>M		No	ClinGen TOPMed
CA7737027 rs778799785	1052	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1195036857 CA393837492	1055	V>I		No	ClinGen gnomAD
rs953551810 CA274712804	1056	V>I		No	ClinGen TOPMed
CA393837505 rs1378055441	1057	S>C		No	ClinGen gnomAD
CA7737028 rs751516634	1057	S>N		No	ClinGen ExAC gnomAD
rs1156788552 CA393837522	1059	N>S		No	ClinGen gnomAD
CA393837528 rs1387008299	1060	R>C		No	ClinGen gnomAD
CA274712805 rs559729068	1063	R>H		No	ClinGen TOPMed
CA7737029 rs761714346	1065	Q>H		No	ClinGen ExAC gnomAD
rs1368802484 CA393837575 COSM1678686	1067	A>V	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
rs767336841 CA7737030	1068	L>P		No	ClinGen ExAC gnomAD
rs1335605112 CA393837587	1070	Q>E		No	ClinGen gnomAD
CA393837597 rs1237307278	1071	I>F		No	ClinGen TOPMed gnomAD
rs1352080841 CA393837609	1073	A>T		No	ClinGen gnomAD
CA7737032 rs370098480	1074	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA393837631 rs1466743729	1076	V>M		No	ClinGen TOPMed gnomAD
CA274712825 rs537604432	1077	K>Q		No	ClinGen 1000Genomes
rs754559464 CA7737035	1078	E>K		No	ClinGen ExAC TOPMed gnomAD
rs778545968 CA7737036	1080	M>I		No	ClinGen ExAC gnomAD
CA393837774 rs1365273979	1088	K>R		No	ClinGen gnomAD
CA393837784 rs957125310	1089	T>N		No	ClinGen Ensembl
rs957125310 CA274712857	1089	T>S		No	ClinGen Ensembl
rs772703868 CA7737039	1091	P>T		No	ClinGen ExAC gnomAD
rs778056404 CA274712872	1093	D>A		No	ClinGen ExAC TOPMed gnomAD
rs778056404 CA7737040	1093	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1294391796 CA393837870	1097	S>F		No	ClinGen gnomAD
CA393837923 rs1309637601	1102	M>V		No	ClinGen gnomAD
CA393814452 rs1357945145	1114	Y>C		No	ClinGen gnomAD
rs1234383596 CA393814460	1115	D>V		No	ClinGen gnomAD
CA274676781 rs1053680922	1117	T>N		No	ClinGen TOPMed
rs1395084363 CA393814475	1118	P>A		No	ClinGen gnomAD
rs1395084363 CA393814474	1118	P>T		No	ClinGen gnomAD
rs184277942 CA274676787	1120	Q>*		No	ClinGen 1000Genomes
CA7737058 rs370005205	1121	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs754002822 CA7737061	1122	L>R		No	ClinGen ExAC TOPMed gnomAD
CA393814509 rs1252690237	1123	A>G		No	ClinGen gnomAD
rs749378834 CA274676852	1124	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs775600587 CA7737063	1124	H>R		No	ClinGen ExAC gnomAD
rs199615407 CA7737062	1124	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7737065 rs768582075	1125	E>A		No	ClinGen ExAC gnomAD
rs773226704 CA7737066	1126	E>Q		No	ClinGen ExAC gnomAD
rs759321364 CA7737070	1130	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs188700089 CA7737069	1130	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA7737072 rs752329755	1131	L>R		No	ClinGen ExAC TOPMed gnomAD
CA7737074 rs200718401	1132	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7737073 rs758011719	1132	D>N		No	ClinGen ExAC gnomAD
rs146358845 CA7737076	1133	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs146358845 CA274676954	1133	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs746214406 CA7737078	1134	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1299417312 CA393814568	1134	S>T		No	ClinGen TOPMed gnomAD
rs778800149 CA7737079	1135	I>M		No	ClinGen ExAC gnomAD
CA393814579 rs1412999012	1136	R>G		No	ClinGen TOPMed
rs780290696 CA7737080	1138	M>I		No	ClinGen ExAC gnomAD
CA7737081 rs749465030	1139	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM966502 CA274676997 rs866472312	1139	R>W	oesophagus endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1210820061 CA393814607	1140	A>S		No	ClinGen gnomAD
CA393814612 rs1298997252	1141	V>M		No	ClinGen TOPMed
CA7737082 rs768832711	1146	L>F		No	ClinGen ExAC gnomAD
rs1567140955 CA393814694	1148	A>P		No	ClinGen Ensembl
CA393814706 rs1381915231	1149	I>V		No	ClinGen TOPMed
CA7737083 rs774265252	1151	S>G		No	ClinGen ExAC gnomAD
CA393814762 rs1454004972	1153	V>A		No	ClinGen gnomAD
rs776653965 CA7737086	1154	D>G		No	ClinGen ExAC gnomAD
CA7737087 rs750536112	1157	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1320065953 CA393814896	1160	M>I		No	ClinGen TOPMed
CA393814885 rs1567141012	1160	M>V		No	ClinGen Ensembl
CA7737111 rs766969217	1161	R>C		No	ClinGen ExAC gnomAD
CA393814907 rs1230224414	1161	R>H		No	ClinGen gnomAD
RCV000256413 rs886039901 CA10588954	1165	K>E		No	ClinGen ClinVar Ensembl dbSNP
rs1278869741 CA393814981	1165	K>R		No	ClinGen TOPMed
CA7737116 rs139658864	1170	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7737119 rs758427889	1172	H>R		No	ClinGen ExAC gnomAD
CA7737118 rs752923204	1172	H>Y		No	ClinGen ExAC gnomAD
CA7737120 rs777976848	1173	E>K		No	ClinGen ExAC gnomAD
CA393815268 rs1417751060	1174	K>M		No	ClinGen gnomAD
rs907661174 CA274677260	1176	P>H		No	ClinGen TOPMed gnomAD
rs907661174 CA393815304	1176	P>L		No	ClinGen TOPMed gnomAD
rs371627028 CA7737121	1178	A>P		No	ClinGen ESP ExAC gnomAD
rs940324287 CA274677271	1179	G>D		No	ClinGen Ensembl
rs768991566 CA7737122	1180	E>D		No	ClinGen ExAC TOPMed gnomAD
rs768991566 CA7737123	1180	E>D		No	ClinGen ExAC TOPMed gnomAD
CA7737126 rs773901169	1184	L>P		No	ClinGen ExAC gnomAD
rs1324921791 CA393815867	1187	I>F		No	ClinGen TOPMed
CA393815862 rs1324921791	1187	I>V		No	ClinGen TOPMed
rs754781708 CA7737144	1188	G>V		No	ClinGen ExAC TOPMed gnomAD
CA274678053 rs77416140	1190	L>F		No	ClinGen Ensembl
rs1441402786 CA393816018	1194	R>*		No	ClinGen TOPMed
CA7737146 rs747826843	1196	M>I		No	ClinGen ExAC gnomAD
rs372845312 CA7737145	1196	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1411154678 CA393816188	1200	I>T		No	ClinGen TOPMed
CA393816178 rs1346162404	1200	I>V		No	ClinGen gnomAD
CA7737147 rs771700516	1205	A>G		No	ClinGen ExAC
rs1231935131 CA393816361	1208	I>V		No	ClinGen TOPMed gnomAD
CA274678071 rs535117997 COSM1375431	1211	L>M	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA7737149 rs746529073	1211	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1442534958 CA393816414	1212	S>P		No	ClinGen gnomAD
rs1460096148 CA393816432 COSM1375432	1213	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA393816438 rs1191887340	1214	G>R		No	ClinGen gnomAD
CA393816475 rs1596289968	1216	Q>H		No	ClinGen Ensembl
rs777025460 CA7737151	1220	D>N		No	ClinGen ExAC TOPMed gnomAD
CA393816508 rs777025460	1220	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA393816805 rs1286939039	1222	R>C		No	ClinGen gnomAD
CA393816810 rs1394325109	1223	R>*		No	ClinGen gnomAD
CA7737155 rs763321490	1228	I>V		No	ClinGen ExAC gnomAD
CA7737157 rs117246983	1231	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144407263 CA7737156	1231	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7737158 rs140035684	1232	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1302934447 CA393816904	1237	S>F		No	ClinGen gnomAD
CA7737159 rs767615971	1238	N>S		No	ClinGen ExAC gnomAD
rs1235843012 CA393816926	1240	M>I		No	ClinGen TOPMed gnomAD
rs1195303323 CA393816921	1240	M>V		No	ClinGen TOPMed
rs1282760950 CA393816929	1241	F>V		No	ClinGen TOPMed
CA7737161 rs754943262	1243	G>R		No	ClinGen ExAC gnomAD
CA393816952 rs1234716868	1244	D>V		No	ClinGen TOPMed
CA7737162 rs778634830	1246	A>T		No	ClinGen ExAC gnomAD
CA393816970 rs1346969497	1247	H>Y		No	ClinGen TOPMed
CA274678173 rs867923199	1249	S>N		No	ClinGen Ensembl
CA393817008 rs1465859812	1252	N>S		No	ClinGen gnomAD
rs747951679 CA7737163	1254	Y>H		No	ClinGen ExAC gnomAD
CA393817029 rs1431273262	1255	L>F		No	ClinGen gnomAD
rs758123564 CA7737164	1257	Q>K		No	ClinGen ExAC gnomAD
CA393817066 rs1469563646	1259	Y>*		No	ClinGen gnomAD
CA7737165 rs777436004	1259	Y>H		No	ClinGen ExAC gnomAD
CA393817079 rs1414352486	1260	Q>H		No	ClinGen gnomAD
rs746614826 CA7737166	1260	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7737168 rs533690641	1263	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393817193 rs1187055166	1264	R>Q		No	ClinGen TOPMed gnomAD
rs763205486 COSM197935 CA274678843	1264	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7737200 rs760841094	1267	Q>K		No	ClinGen ExAC
rs766323173 CA393817231	1268	T>I		No	ClinGen ExAC gnomAD
CA7737201 rs766323173	1268	T>N		No	ClinGen ExAC gnomAD
rs112080062 CA274678882	1270	C>W		No	ClinGen Ensembl
CA393817312 rs1428026450	1275	L>P		No	ClinGen gnomAD
rs1170904355 CA393817324	1276	Q>R		No	ClinGen gnomAD
CA7737204 rs200074499	1277	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1374659861 CA393817334	1277	D>H		No	ClinGen gnomAD
CA7737203 rs200074499	1277	D>V		No	ClinGen ExAC TOPMed gnomAD
rs751340887 CA7737205	1286	D>E		No	ClinGen ExAC TOPMed gnomAD
CA274678900 rs375769574	1290	L>V		No	ClinGen ESP
rs767199108 CA7737207	1291	T>A		No	ClinGen ExAC gnomAD
rs1305618640 CA393817600	1291	T>S		No	ClinGen gnomAD
rs1052877800 CA274678926	1293	P>L		No	ClinGen Ensembl
rs138269416 RCV000881585 COSM1581056 CA7737208	1294	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA274678932 rs112244596	1297	I>V		No	ClinGen Ensembl
rs755669357 CA7737209	1298	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1276516884 CA393817770	1299	I>V		No	ClinGen gnomAD
CA393817795 rs1342603153	1300	G>S		No	ClinGen gnomAD
CA274678937 rs768659113	1301	E>K		No	ClinGen Ensembl
CA393817895 rs1185042161	1303	I>T		No	ClinGen TOPMed
rs1011250603 CA274678945	1305	T>A		No	ClinGen gnomAD
rs749880288 CA7737211	1306	H>Y		No	ClinGen ExAC gnomAD
rs1343125643 CA393819099	1308	L>I		No	ClinGen TOPMed
CA393819186 rs1427630136	1312	H>D		No	ClinGen gnomAD
rs754475564 CA393819207	1312	H>Q		No	ClinGen ExAC gnomAD
rs779595263 CA7737230	1314	D>V		No	ClinGen ExAC gnomAD
CA7737231 rs535698281	1316	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA7737232 rs758847813	1318	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747320346 CA7737234	1319	E>K		No	ClinGen ExAC gnomAD
CA7737236 rs141625521	1321	N>S		No	ClinGen ESP ExAC gnomAD
CA393819397 rs1415137704	1322	D>G		No	ClinGen TOPMed
CA393819416 rs1369383129	1323	P>A		No	ClinGen gnomAD
rs553937251 CA7737237	1324	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs760464269 CA7737243	1332	G>S		No	ClinGen ExAC gnomAD
rs918402334 CA274680448	1333	E>K		No	ClinGen TOPMed gnomAD
CA7737244 rs766138727	1334	V>M		No	ClinGen ExAC gnomAD
CA393819586 rs1177186923	1336	T>I		No	ClinGen gnomAD
rs753502137 CA7737245	1337	I>F		No	ClinGen ExAC TOPMed gnomAD
rs753502137 CA393819590	1337	I>V		No	ClinGen ExAC TOPMed gnomAD
rs759140590 CA7737246	1338	E>D		No	ClinGen ExAC gnomAD
rs1314114998 CA393819600	1338	E>K		No	ClinGen TOPMed
CA393819817 rs1167738941	1344	S>N		No	ClinGen gnomAD
rs1368398343 CA393819845	1345	S>F		No	ClinGen gnomAD
rs760582968 CA7737260	1349	N>S		No	ClinGen ExAC gnomAD
rs770800746 CA7737261	1350	D>Y		No	ClinGen ExAC gnomAD
rs924966442 CA393819956	1351	P>S		No	ClinGen gnomAD
rs924966442 CA274681111	1351	P>T		No	ClinGen gnomAD
CA7737262 rs146984888	1352	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393819993 rs1285991873	1353	K>E		No	ClinGen TOPMed gnomAD
rs759233844 CA7737263	1353	K>R		No	ClinGen ExAC
CA7737264 rs367610544	1355	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7737266 rs148060068	1359	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7737269 rs757637270	1361	V>A		No	ClinGen ExAC gnomAD
CA393820152 rs1438338104	1361	V>M		No	ClinGen gnomAD
rs368968167 CA7737271	1369	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs181919733 CA7737273	1371	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201241538 CA7737274	1372	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1444868064 CA393820281	1372	P>S		No	ClinGen gnomAD
rs1388152554 CA393820297	1373	G>E		No	ClinGen TOPMed gnomAD
rs768745053 CA7737275	1374	D>H		No	ClinGen ExAC gnomAD
rs1567142626 CA393820323	1375	E>G		No	ClinGen Ensembl
rs1417720517 CA393820381	1379	M>I		No	ClinGen TOPMed
rs746922395 CA7737277	1379	M>L		No	ClinGen ExAC gnomAD
rs1428108104 CA393820375	1379	M>R		No	ClinGen TOPMed
rs746922395 CA393820371	1379	M>V		No	ClinGen ExAC gnomAD
CA7737278 rs199566192	1381	A>V		No	ClinGen ExAC gnomAD
CA7737279 rs776564409	1382	R>Q		No	ClinGen ExAC gnomAD
CA7737280 rs770709235	1384	I>V		No	ClinGen ExAC gnomAD
CA7737281 rs769344033	1385	L>S		No	ClinGen ExAC gnomAD
rs775140593 CA7737282	1386	L>M		No	ClinGen ExAC gnomAD
rs150084403 CA7737283	1387	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA393820552 rs1397987422	1388	T>A		No	ClinGen TOPMed
CA393820558 rs1367224116	1388	T>R		No	ClinGen TOPMed
CA7737306 rs200349977	1389	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7737307 rs760969224	1390	R>C		No	ClinGen ExAC gnomAD
CA7737308 rs766747530	1390	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7737311 rs765473120	1395	V>A		No	ClinGen ExAC gnomAD
rs1389075576 CA393820640	1395	V>I		No	ClinGen TOPMed gnomAD
CA393820659 rs1596292195	1396	I>T		No	ClinGen Ensembl
CA274681529 rs1020294029	1396	I>V		No	ClinGen Ensembl
CA7737313 rs758482491	1397	R>Q		No	ClinGen ExAC gnomAD
rs963485476 CA274681531	1397	R>W		No	ClinGen TOPMed
rs781305462 CA7737314	1400	P>A		No	ClinGen ExAC gnomAD
CA7737316 rs181523835	1402	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7737317 rs138399745	1411	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7737318 rs748958180	1412	A>T		No	ClinGen ExAC TOPMed gnomAD
CA274681583 rs957771730	1414	S>G		No	ClinGen Ensembl
rs376580456 CA7737319	1414	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs773928875 CA7737320	1416	Q>E		No	ClinGen ExAC gnomAD
CA7737321 rs186655598	1416	Q>L		No	ClinGen 1000Genomes ExAC
CA393822637 rs1336947378	1417	E>G		No	ClinGen TOPMed gnomAD
CA274684690 rs905939638	1419	E>D		No	ClinGen TOPMed gnomAD
CA274684686 rs926227359	1419	E>G		No	ClinGen TOPMed gnomAD
CA274684679 rs978944968	1419	E>K		No	ClinGen Ensembl
CA393822685 rs1299496166	1420	H>Y		No	ClinGen gnomAD
CA7737346 rs770232143	1422	R>T		No	ClinGen ExAC gnomAD
rs775900282 CA393822753	1423	A>S		No	ClinGen ExAC gnomAD
rs775900282 CA7737347	1423	A>T		No	ClinGen ExAC gnomAD
rs763237097 CA7737348	1424	M>V		No	ClinGen ExAC gnomAD
rs1313617102 CA393822836	1427	R>C		No	ClinGen TOPMed
CA7737349 rs764335788	1427	R>H		No	ClinGen ExAC gnomAD
rs751644319 CA7737350	1429	I>M		No	ClinGen ExAC gnomAD
rs1447565134 CA393822864	1429	I>V		No	ClinGen TOPMed
rs761739950 CA7737351	1430	R>C		No	ClinGen ExAC TOPMed gnomAD
rs766373351 CA7737352	1430	R>H		No	ClinGen ExAC gnomAD
rs1320561546 CA393822900	1431	D>H		No	ClinGen TOPMed
CA393822957 rs1401038439	1433	K>R		No	ClinGen TOPMed
CA7737354 rs754817959	1434	T>A		No	ClinGen ExAC gnomAD
CA393822989 rs1375468567	1436	D>Y		No	ClinGen gnomAD
CA7737356 rs752418699	1438	M>I		No	ClinGen ExAC TOPMed gnomAD
CA393823043 rs752418699	1438	M>I		No	ClinGen ExAC TOPMed gnomAD
CA7737357 rs564134950	1441	S>A		No	ClinGen 1000Genomes ExAC gnomAD
rs777236214 CA7737358	1443	S>C		No	ClinGen ExAC TOPMed gnomAD
rs777236214 CA393823150	1443	S>F		No	ClinGen ExAC TOPMed gnomAD
rs770304915 CA7737360	1445	K>R		No	ClinGen ExAC TOPMed gnomAD
CA7737362 rs151298588	1446	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1299062917 CA393823213	1446	E>K		No	ClinGen gnomAD
CA7737363 rs770318310	1447	D>G		No	ClinGen ExAC gnomAD
rs1216101409 CA393823234	1447	D>H		No	ClinGen TOPMed
rs775992471 CA7737365	1448	S>R		No	ClinGen ExAC gnomAD
CA7737366 rs141544591	1449	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7737367 rs141544591	1449	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7737368 rs761976560	1454	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1567144315 CA393823475	1454	E>D		No	ClinGen Ensembl
rs761976560 CA7737369	1454	E>G		No	ClinGen ExAC TOPMed gnomAD
rs562000995 CA7737370	1459	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA274684829 rs955173729	1459	I>V		No	ClinGen TOPMed
CA393823655 rs1227751735	1460	Q>*		No	ClinGen TOPMed
CA393823684 rs1190032068	1461	T>K		No	ClinGen TOPMed gnomAD
CA7737375 rs758125618	1465	K>Q		No	ClinGen ExAC gnomAD
rs1410507236 CA393823830	1467	T>I		No	ClinGen gnomAD
rs886734325 CA274684865	1468	E>K		No	ClinGen TOPMed gnomAD
rs1462823136 CA393823873	1470	G>R		No	ClinGen TOPMed
CA393823902 rs1291520517	1471	T>I		No	ClinGen gnomAD
CA274684873 rs1005238395	1472	V>G		No	ClinGen Ensembl
CA393823913 rs751120932	1472	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7737377 rs751120932	1472	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7737379 rs780533039	1477	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1321297541 CA393824079	1479	Q>R		No	ClinGen gnomAD
CA7737382 rs780649002	1480	E>Q		No	ClinGen ExAC gnomAD
CA393824122 rs1267537055	1481	L>P		No	ClinGen gnomAD
CA393824162 rs1182071931	1483	N>S		No	ClinGen gnomAD
CA274684921 rs899733747	1484	D>N		No	ClinGen gnomAD
CA7737385 rs146200248	1487	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393824840 rs1446175723	1488	D>G		No	ClinGen gnomAD
CA7737407 rs747125647	1489	I>V		No	ClinGen ExAC gnomAD
CA7737409 rs770946291	1490	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7737408 rs770946291	1490	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA393824866 rs1384053488	1490	R>W		No	ClinGen gnomAD
rs1295805390 CA393824876	1491	N>H		No	ClinGen gnomAD
rs762842234 CA7737410	1492	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA7737412 rs774003430	1493	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768558979 CA7737411	1493	R>W		No	ClinGen ExAC gnomAD
rs767079084 CA7737414	1496	R>*		No	ClinGen ExAC gnomAD
rs1461459430 CA393824976	1496	R>L		No	ClinGen gnomAD
rs1461459430 CA393824972	1496	R>Q		No	ClinGen gnomAD
CA393824997 rs1187702271	1497	Q>R		No	ClinGen gnomAD
CA393825130 rs1476383912	1504	V>L		No	ClinGen gnomAD
rs1296125817 CA393825180	1507	Q>*		No	ClinGen TOPMed gnomAD
CA393825226 rs1402505647	1509	T>A		No	ClinGen TOPMed
rs953910791 CA393825261	1510	Y>*		No	ClinGen TOPMed gnomAD
COSM1210858 rs1434558133 CA393825264	1511	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs986607185 CA274685799	1511	A>V		No	ClinGen Ensembl
CA393825296 rs1428771835	1513	L>V		No	ClinGen TOPMed
rs1318974341 CA393825350	1516	K>Q		No	ClinGen gnomAD
rs1415140991 CA393825358	1516	K>T		No	ClinGen gnomAD
CA7737420 rs142951822	1521	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs974066362 CA274685805	1522	E>K		No	ClinGen TOPMed gnomAD
rs753012596 CA7737421	1529	S>N		No	ClinGen ExAC gnomAD
CA393825700 rs1343436334	1532	K>Q		No	ClinGen TOPMed gnomAD
CA393825875 rs1323829650	1538	L>F		No	ClinGen gnomAD
rs368259212 CA7737425	1539	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7737424 rs368259212	1539	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7737427 rs749302625	1542	G>S		No	ClinGen ExAC gnomAD
CA393826510 rs1470596997	1543	K>N		No	ClinGen gnomAD
rs1163057064 CA393826520	1544	V>L		No	ClinGen gnomAD
rs1221411929 CA393826569	1546	K>R		No	ClinGen TOPMed
CA393826619 rs1275010878	1549	R>T		No	ClinGen TOPMed
rs371367230 CA7737442	1553	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1427183643 CA393826676	1553	G>R		No	ClinGen gnomAD
rs778078166 CA7737443	1554	K>E		No	ClinGen ExAC gnomAD
rs751842091 CA7737444	1554	K>N		No	ClinGen ExAC gnomAD
CA7737446 rs781332980	1557	K>R		No	ClinGen ExAC gnomAD
CA393826769 rs1356996595	1559	I>T		No	ClinGen gnomAD
CA7737447 rs745939450	1559	I>V		No	ClinGen ExAC gnomAD
rs778736905 CA7737449	1561	L>R		No	ClinGen ExAC gnomAD
CA274687275 rs200237638	1562	K>T		No	ClinGen Ensembl
CA7737451 rs772061785	1564	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1252687242 CA393826868	1566	A>V		No	ClinGen gnomAD
CA7737452 rs773127918	1569	H>D		No	ClinGen ExAC gnomAD
CA393826899 rs1183354739	1569	H>R		No	ClinGen TOPMed gnomAD
CA7737453 rs773127918	1569	H>Y		No	ClinGen ExAC gnomAD
rs1404702415 CA393826932	1573	V>D		No	ClinGen TOPMed
rs1383820634 CA393826941	1574	L>F		No	ClinGen gnomAD
rs770716571 CA7737454	1578	E>G		No	ClinGen ExAC gnomAD
CA7737455 rs201369559 COSM220633	1579	D>N	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA393827016 rs1596295722	1580	L>V		No	ClinGen Ensembl
rs758993035 CA7737456	1581	Q>E		No	ClinGen ExAC gnomAD
CA7737457 rs764785208	1581	Q>R		No	ClinGen ExAC gnomAD
CA7737458 rs144358300	1582	V>M		No	ClinGen ESP ExAC TOPMed
CA393827056 rs764496811	1583	N>I		No	ClinGen ExAC TOPMed gnomAD
CA7737460 rs764496811	1583	N>T		No	ClinGen ExAC TOPMed gnomAD
rs764588793 CA393827527	1589	I>L		No	ClinGen ExAC TOPMed gnomAD
CA7737481 rs774798904	1589	I>T		No	ClinGen ExAC TOPMed
rs764588793 CA7737480	1589	I>V		No	ClinGen ExAC TOPMed gnomAD
CA274688836 rs979725237	1597	E>Q		No	ClinGen TOPMed
CA7737484 rs750679093	1602	E>*		No	ClinGen ExAC gnomAD
rs1158039603 CA393827736	1605	A>V		No	ClinGen TOPMed
CA274688847 rs769624094	1607	F>Y		No	ClinGen gnomAD
rs1267965068 CA619560374	1609	G>*		No	ClinGen gnomAD
rs766454169 CA7737486	1610	V>I		No	ClinGen ExAC gnomAD
CA393827814 rs1393007086	1612	M>K		No	ClinGen gnomAD
rs1263087344 CA393827811	1612	M>V		No	ClinGen gnomAD
rs1198088126 CA393827865	1616	M>V		No	ClinGen gnomAD
rs1470790880 CA393827898	1618	H>R		No	ClinGen gnomAD
CA7737487 rs753957161	1618	H>Y		No	ClinGen ExAC gnomAD
CA7737488 rs755073388 COSM1470771	1620	Q>*	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7737525 rs755823422	1621	D>Y		No	ClinGen ExAC gnomAD
CA7737527 rs748916668	1623	L>P		No	ClinGen ExAC TOPMed gnomAD
CA274690402 rs1020859135	1627	Y>F		No	ClinGen TOPMed
CA393828652 rs1596297768	1634	K>R		No	ClinGen Ensembl
CA7737530 rs747600138	1636	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1490644239 CA393828729	1640	K>E		No	ClinGen gnomAD
CA274690409 rs866035708	1640	K>R		No	ClinGen Ensembl
CA393828742 rs1228359095	1641	V>I		No	ClinGen TOPMed
CA7737531 rs772639310	1647	I>V		No	ClinGen ExAC gnomAD
rs1401576090 CA393828902	1652	K>N		No	ClinGen TOPMed
CA7737534 rs771179860	1655	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA393828959 rs1158092420	1656	G>E		No	ClinGen TOPMed
CA393828954 rs1425163837	1656	G>R		No	ClinGen TOPMed gnomAD
rs759837106 CA7737536	1657	K>M		No	ClinGen ExAC gnomAD
rs765461777 CA393828974	1657	K>N		No	ClinGen ExAC TOPMed gnomAD
rs765461777 CA7737537	1657	K>N		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with P46940

11 regional properties for P46940

Type	Name	Position	InterPro Accession
domain	C2 domain	354 - 474	IPR000008
domain	Protein kinase domain	658 - 917	IPR000719
domain	AGC-kinase, C-terminal	918 - 985	IPR000961
active_site	Serine/threonine-protein kinase, active site	779 - 791	IPR008271
domain	HR1 rho-binding domain	33 - 110	IPR011072-1
domain	HR1 rho-binding domain	121 - 205	IPR011072-2
domain	HR1 rho-binding domain	207 - 287	IPR011072-3
binding_site	Protein kinase, ATP binding site	664 - 687	IPR017441
domain	Protein kinase, C-terminal	938 - 980	IPR017892
domain	Serine/threonine-protein kinase N, first HR1 domain	42 - 107	IPR037313
domain	Serine/threonine-protein kinase N, C2 domain	391 - 474	IPR037784

Functions

		Description
EC Number
Subcellular Localization	Cell membrane Nucleus Cytoplasm Apical cell membrane Basolateral cell membrane	Subcellular distribution is regulated by the cell cycle, nuclear levels increase at G1/S phase (PubMed:20883816)
PANTHER Family	PTHR14149	RAS GTPASE-ACTIVATING PROTEIN WITH IQ MOTIF
PANTHER Subfamily	PTHR14149:SF15	RAS GTPASE-ACTIVATING-LIKE PROTEIN IQGAP1
PANTHER Protein Class	G-protein modulator GTPase-activating protein
PANTHER Pathway Category	No pathway information available

20 GO annotations of cellular component

Name	Definition
actin filament	A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane.
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.
cortical actin cytoskeleton	The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic ribonucleoprotein granule	A ribonucleoprotein granule located in the cytoplasm.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extrinsic component of cytoplasmic side of plasma membrane	The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
growth cone	The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic.
lateral plasma membrane	The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells.
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.
midbody	A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
ribonucleoprotein complex	A macromolecular complex that contains both RNA and protein molecules.
ruffle	Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.
secretory granule membrane	The lipid bilayer surrounding a secretory granule.
slit diaphragm	A specialized cell-cell junction found between the interdigitating foot processes of the glomerular epithelium (the podocytes) in the vertebrate kidney, which is adapted for facilitating glomerular filtration.

15 GO annotations of molecular function

Name	Definition
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
calcium ion binding	Binding to a calcium ion (Ca2+).
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
GTPase inhibitor activity	Stops, prevents or reduces the activity of any enzyme that catalyzes the hydrolysis of GTP to GDP and orthophosphate.
MAP-kinase scaffold activity	The binding activity of a molecule that functions as a physical support for the assembly of a multiprotein mitogen-activated protein kinase (MAPK) complex. Binds multiple kinases of the MAPKKK cascade, and also upstream signaling proteins, permitting those molecules to function in a coordinated way. Bringing together multiple enzymes and their substrates enables the signal to be transduced quickly and efficiently.
molecular adaptor activity	The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.
phosphatidylinositol-3,4,5-trisphosphate binding	Binding to phosphatidylinositol-3,4,5-trisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3', 4' and 5' positions.
protein domain specific binding	Binding to a specific domain of a protein.
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.
protein phosphatase binding	Binding to a protein phosphatase.
protein serine/threonine kinase activator activity	Binds to and increases the activity of a protein serine/threonine kinase.
S100 protein binding	Binding to a S100 protein. S100 is a small calcium and zinc binding protein produced in astrocytes that is implicated in Alzheimer's disease, Down Syndrome and ALS.
small GTPase binding	Binding to a small monomeric GTPase.

18 GO annotations of biological process

Name	Definition
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cellular response to calcium ion	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus.
cellular response to epidermal growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epidermal growth factor stimulus.
cellular response to platelet-derived growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platelet-derived growth factor stimulus.
epidermal growth factor receptor signaling pathway	The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
fibroblast growth factor receptor signaling pathway	The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands.
fibroblast migration	Cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium. A fibroblast is a connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules.
glomerular visceral epithelial cell development	The process whose specific outcome is the progression of a glomerular visceral epithelial cell over time, from its formation to the mature structure. A glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells.
negative regulation of dephosphorylation	Any process the stops, prevents, or reduces the frequency, rate or extent of removal of phosphate groups from a molecule.
neuron projection extension	Long distance growth of a single neuron projection involved in cellular development. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
platelet-derived growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a platelet-derived growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of protein kinase activity	Any process that activates or increases the frequency, rate or extent of protein kinase activity.
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of cytokine production	Any process that modulates the frequency, rate, or extent of production of a cytokine.
regulation of GTPase activity	Any process that modulates the rate of GTP hydrolysis by a GTPase.
regulation of mitotic cell cycle	Any process that modulates the rate or extent of progress through the mitotic cell cycle.
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.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q86VI3	IQGAP3	Ras GTPase-activating-like protein IQGAP3	Homo sapiens (Human)	SS
Q13576	IQGAP2	Ras GTPase-activating-like protein IQGAP2	Homo sapiens (Human)	SS
Q3UQ44	Iqgap2	Ras GTPase-activating-like protein IQGAP2	Mus musculus (Mouse)	SS
Q9JKF1	Iqgap1	Ras GTPase-activating-like protein IQGAP1	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MSAADEVDGL	GVARPHYGSV	LDNERLTAEE	MDERRRQNVA	YEYLCHLEEA	KRWMEACLGE
70	80	90	100	110	120
DLPPTTELEE	GLRNGVYLAK	LGNFFSPKVV	SLKKIYDREQ	TRYKATGLHF	RHTDNVIQWL
130	140	150	160	170	180
NAMDEIGLPK	IFYPETTDIY	DRKNMPRCIY	CIHALSLYLF	KLGLAPQIQD	LYGKVDFTEE
190	200	210	220	230	240
EINNMKTELE	KYGIQMPAFS	KIGGILANEL	SVDEAALHAA	VIAINEAIDR	RIPADTFAAL
250	260	270	280	290	300
KNPNAMLVNL	EEPLASTYQD	ILYQAKQDKM	TNAKNRTENS	ERERDVYEEL	LTQAEIQGNI
310	320	330	340	350	360
NKVNTFSALA	NIDLALEQGD	ALALFRALQS	PALGLRGLQQ	QNSDWYLKQL	LSDKQQKRQS
370	380	390	400	410	420
GQTDPLQKEE	LQSGVDAANS	AAQQYQRRLA	AVALINAAIQ	KGVAEKTVLE	LMNPEAQLPQ
430	440	450	460	470	480
VYPFAADLYQ	KELATLQRQS	PEHNLTHPEL	SVAVEMLSSV	ALINRALESG	DVNTVWKQLS
490	500	510	520	530	540
SSVTGLTNIE	EENCQRYLDE	LMKLKAQAHA	ENNEFITWND	IQACVDHVNL	VVQEEHERIL
550	560	570	580	590	600
AIGLINEALD	EGDAQKTLQA	LQIPAAKLEG	VLAEVAQHYQ	DTLIRAKREK	AQEIQDESAV
610	620	630	640	650	660
LWLDEIQGGI	WQSNKDTQEA	QKFALGIFAI	NEAVESGDVG	KTLSALRSPD	VGLYGVIPEC
670	680	690	700	710	720
GETYHSDLAE	AKKKKLAVGD	NNSKWVKHWV	KGGYYYYHNL	ETQEGGWDEP	PNFVQNSMQL
730	740	750	760	770	780
SREEIQSSIS	GVTAAYNREQ	LWLANEGLIT	RLQARCRGYL	VRQEFRSRMN	FLKKQIPAIT
790	800	810	820	830	840
CIQSQWRGYK	QKKAYQDRLA	YLRSHKDEVV	KIQSLARMHQ	ARKRYRDRLQ	YFRDHINDII
850	860	870	880	890	900
KIQAFIRANK	ARDDYKTLIN	AEDPPMVVVR	KFVHLLDQSD	QDFQEELDLM	KMREEVITLI
910	920	930	940	950	960
RSNQQLENDL	NLMDIKIGLL	VKNKITLQDV	VSHSKKLTKK	NKEQLSDMMM	INKQKGGLKA
970	980	990	1000	1010	1020
LSKEKREKLE	AYQHLFYLLQ	TNPTYLAKLI	FQMPQNKSTK	FMDSVIFTLY	NYASNQREEY
1030	1040	1050	1060	1070	1080
LLLRLFKTAL	QEEIKSKVDQ	IQEIVTGNPT	VIKMVVSFNR	GARGQNALRQ	ILAPVVKEIM
1090	1100	1110	1120	1130	1140
DDKSLNIKTD	PVDIYKSWVN	QMESQTGEAS	KLPYDVTPEQ	ALAHEEVKTR	LDSSIRNMRA
1150	1160	1170	1180	1190	1200
VTDKFLSAIV	SSVDKIPYGM	RFIAKVLKDS	LHEKFPDAGE	DELLKIIGNL	LYYRYMNPAI
1210	1220	1230	1240	1250	1260
VAPDAFDIID	LSAGGQLTTD	QRRNLGSIAK	MLQHAASNKM	FLGDNAHLSI	INEYLSQSYQ
1270	1280	1290	1300	1310	1320
KFRRFFQTAC	DVPELQDKFN	VDEYSDLVTL	TKPVIYISIG	EIINTHTLLL	DHQDAIAPEH
1330	1340	1350	1360	1370	1380
NDPIHELLDD	LGEVPTIESL	IGESSGNLND	PNKEALAKTE	VSLTLTNKFD	VPGDENAEMD
1390	1400	1410	1420	1430	1440
ARTILLNTKR	LIVDVIRFQP	GETLTEILET	PATSEQEAEH	QRAMQRRAIR	DAKTPDKMKK
1450	1460	1470	1480	1490	1500
SKSVKEDSNL	TLQEKKEKIQ	TGLKKLTELG	TVDPKNKYQE	LINDIARDIR	NQRRYRQRRK
1510	1520	1530	1540	1550	1560
AELVKLQQTY	AALNSKATFY	GEQVDYYKSY	IKTCLDNLAS	KGKVSKKPRE	MKGKKSKKIS
1570	1580	1590	1600	1610	1620
LKYTAARLHE	KGVLLEIEDL	QVNQFKNVIF	EISPTEEVGD	FEVKAKFMGV	QMETFMLHYQ
1630	1640	1650
DLLQLQYEGV	AVMKLFDRAK	VNVNLLIFLL	NKKFYGK