AiPD: Autoinhibited Protein Database

Q92538

Gene name	GBF1 (KIAA0248)
Protein name	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1
Names	BFA-resistant GEF 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8729
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

331-412 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

331-412 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q92538

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q92538-F1	Predicted				AlphaFoldDB

1254 variants for Q92538

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001249193 RCV001730753 rs2060050669	982	C>Y	Charcot-Marie-Tooth Disease, axonal, type 2GG [ClinVar]	Yes	ClinVar dbSNP
rs1299997613 CA377870962 RCV001730755 RCV001251623	1137	A>V	Charcot-Marie-Tooth Disease, axonal, type 2GG [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001250272 rs2060161763 RCV001730754	1175	W>*	Charcot-Marie-Tooth Disease, axonal, type 2GG [ClinVar]	Yes	ClinVar dbSNP
TCGA novel RCV001730752 rs2060541274 RCV001249190	1461	R>Q	Charcot-Marie-Tooth Disease, axonal, type 2GG Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinVar NCI-TCGA dbSNP
rs1345217592 CA378164545	2	V>A		No	ClinGen gnomAD
rs776504338 CA5662838	2	V>M		No	ClinGen ExAC gnomAD
CA5662840 rs769773325	6	I>M		No	ClinGen ExAC gnomAD
CA5662839 rs759403309	6	I>V		No	ClinGen ExAC gnomAD
CA5662841 rs775836923	8	I>V		No	ClinGen ExAC gnomAD
rs1290560213 CA378164597	9	I>M		No	ClinGen gnomAD
rs751609984 CA5662844	12	E>G		No	ClinGen ExAC gnomAD
rs762319795 CA5662845	13	I>L		No	ClinGen ExAC gnomAD
CA212312989 rs1000524125	13	I>M		No	ClinGen TOPMed gnomAD
rs762319795 CA378164619	13	I>V		No	ClinGen ExAC gnomAD
rs1183909766 CA378164651	18	G>R		No	ClinGen gnomAD
CA5662847 rs750994047	19	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA378164666 rs1392139898	20	I>S		No	ClinGen TOPMed gnomAD
CA5662848 rs756456202	20	I>V		No	ClinGen ExAC gnomAD
rs780444403 CA5662849	22	R>*		No	ClinGen ExAC TOPMed
COSM3414636 CA5662850 rs752314787	22	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5662851 rs758008478	23	N>S		No	ClinGen ExAC TOPMed gnomAD
rs992388318 CA212313008	24	A>P		No	ClinGen TOPMed
rs865865543 CA212313014	24	A>V		No	ClinGen Ensembl
CA378164690 rs777280189 COSM200232	25	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs777280189 CA5662853	25	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5662854 rs770542755	25	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781264816 CA5662855	27	S>N		No	ClinGen ExAC gnomAD
rs756781161 CA5662856	28	T>S		No	ClinGen ExAC gnomAD
rs370120610 CA5662857	31	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5662872 rs777289121	33	D>G		No	ClinGen ExAC gnomAD
CA378164751 rs1446983281	33	D>H		No	ClinGen gnomAD
CA5662873 rs751286161	35	E>K		No	ClinGen ExAC gnomAD
rs756702754 CA378164772	36	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5662875 rs201533615	36	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs756702754 COSM914148 CA5662874	36	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs756138137 CA5662877	38	P>L		No	ClinGen ExAC gnomAD
CA5662876 rs553027274	38	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779933281 CA5662878	41	H>R		No	ClinGen ExAC gnomAD
CA5662881 rs768560722	44	G>R		No	ClinGen ExAC gnomAD
CA5662880 rs768560722	44	G>S		No	ClinGen ExAC gnomAD
CA212313876 rs868229634	47	K>R		No	ClinGen Ensembl
rs772107449 CA5662883	51	N>D		No	ClinGen ExAC gnomAD
rs773311713 CA5662884	53	I>V		No	ClinGen ExAC gnomAD
CA5662885 rs761113491	54	T>A		No	ClinGen ExAC gnomAD
rs544769042 CA5662886	54	T>K		No	ClinGen 1000Genomes ExAC gnomAD
CA212360998 rs4363527	58	E>G		No	ClinGen Ensembl
CA5662905 rs776984544	59	I>T		No	ClinGen ExAC TOPMed gnomAD
rs974688005 CA212361016	60	E>V		No	ClinGen TOPMed gnomAD
CA212361025 rs935649747	62	N>S		No	ClinGen gnomAD
rs556217623 CA378169441	63	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs556217623 CA5662906	63	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1271533587 CA378169481	66	R>G		No	ClinGen gnomAD
CA5662908 rs145502597	66	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA
rs761495253 CA5662909	67	P>S		No	ClinGen ExAC gnomAD
CA378169548 rs1589711061	71	V>L		No	ClinGen Ensembl
rs1408979933 CA378169571	73	R>C		No	ClinGen gnomAD
CA5662911 rs750164321	73	R>H		No	ClinGen ExAC TOPMed gnomAD
CA212361063 rs750164321	73	R>L		No	ClinGen ExAC TOPMed gnomAD
rs755670253 CA5662912	74	S>F		No	ClinGen ExAC gnomAD
CA378169604 rs1392826840	76	D>Y		No	ClinGen TOPMed
CA5662914 rs753686587	77	T>S		No	ClinGen ExAC gnomAD
rs574338221 CA5662915	78	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778524141 CA5662916	79	G>S		No	ClinGen ExAC gnomAD
CA212361075 rs868379251	80	P>T		No	ClinGen Ensembl
CA5662917 rs541613143	81	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs758256761 CA5662918	85	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1247353190 CA378169799	92	F>L		No	ClinGen gnomAD
CA5662921 rs770968985	94	S>Y		No	ClinGen ExAC gnomAD
CA5662922 rs781367144	95	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA378169841 rs781367144	95	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1389150683 CA378169864	97	L>F		No	ClinGen TOPMed
rs775654598 CA5662925	98	I>M		No	ClinGen ExAC gnomAD
rs1175664177 CA378169883	98	I>T		No	ClinGen gnomAD
CA5662926 rs763409813	99	D>Y		No	ClinGen ExAC gnomAD
rs776213088 CA5662950	100	P>R		No	ClinGen ExAC gnomAD
rs1470698787 CA377830882	100	P>S		No	ClinGen gnomAD
CA377830893 rs1204200530	102	H>N		No	ClinGen TOPMed
CA5662951 rs759072179	104	G>S		No	ClinGen ExAC gnomAD
CA377830921 rs1277879136	105	T>I		No	ClinGen gnomAD
rs1589740844 CA377830914	105	T>P		No	ClinGen Ensembl
rs1364601780 CA377830936	106	A>V		No	ClinGen gnomAD
rs762906316 CA5662954	107	E>V		No	ClinGen ExAC gnomAD
rs893983730 CA212176183	108	G>V		No	ClinGen gnomAD
CA5662955 rs763824062	109	M>V		No	ClinGen ExAC gnomAD
rs1205750776 CA377831001	112	M>T		No	ClinGen gnomAD
rs1241929657 CA377830997	112	M>V		No	ClinGen TOPMed
CA377831036 rs1261371520	115	A>D		No	ClinGen gnomAD
CA5662956 rs751365330	116	V>I		No	ClinGen ExAC gnomAD
rs1243761951 CA377831064	118	H>Y		No	ClinGen gnomAD
CA212176195 rs150423225	119	A>T		No	ClinGen ESP TOPMed gnomAD
rs767779642 CA5662958	120	R>C		No	ClinGen ExAC gnomAD
CA5662959 rs750672828	120	R>H		No	ClinGen ExAC gnomAD
rs1481232157 CA377831159	122	V>L		No	ClinGen gnomAD
CA377831216 rs1173733339	124	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1369211250 CA377831367	129	D>G		No	ClinGen TOPMed
rs756199794 CA5662960	131	V>I		No	ClinGen ExAC gnomAD
rs780324020 CA5662961	133	L>P		No	ClinGen ExAC gnomAD
CA377831600 rs1354920627	138	Q>H		No	ClinGen TOPMed
CA377831582 rs1429118168	138	Q>K		No	ClinGen gnomAD
rs745473479 CA5662985	141	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs778027906 CA5662984	141	R>W		No	ClinGen ExAC gnomAD
CA5662987 rs774911043	143	L>P		No	ClinGen ExAC gnomAD
CA377831886 rs1162086361	145	L>V		No	ClinGen gnomAD
CA377831923 rs1392187748	147	P>A		No	ClinGen gnomAD
rs1414179524 CA377831947	148	V>M		No	ClinGen gnomAD
rs761699302 CA5662991	149	G>S		No	ClinGen ExAC gnomAD
CA5662994 rs760894599	154	N>S		No	ClinGen ExAC gnomAD
CA5662995 rs766713333	155	E>*		No	ClinGen ExAC gnomAD
CA5662996 rs775082668	157	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1565146060 CA377832374	164	C>G		No	ClinGen Ensembl
rs778138554 CA5663001	166	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5663000 rs758848416	166	R>W		No	ClinGen ExAC gnomAD
rs1244348238 CA377832465	167	I>M		No	ClinGen gnomAD
rs1416413397 CA377832452	167	I>V		No	ClinGen gnomAD
CA5663004 rs779671318	169	F>S		No	ClinGen ExAC gnomAD
CA377832627 rs1368268178	174	S>G		No	ClinGen gnomAD
rs754650524 CA5663025	181	A>T		No	ClinGen ExAC TOPMed gnomAD
CA377832852 rs1345202139	182	E>*		No	ClinGen TOPMed gnomAD
rs778430669 CA5663026	185	L>V		No	ClinGen ExAC gnomAD
CA5663027 rs376175528	186	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5663028 rs376175528	186	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1504198 CA377832936 rs1467300528	188	M>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA377832984 rs1252626297	191	L>V		No	ClinGen TOPMed
CA377832994 rs746983792	192	L>F		No	ClinGen ExAC TOPMed gnomAD
CA5663030 rs746983792	192	L>I		No	ClinGen ExAC TOPMed gnomAD
CA377833019 rs1271444186	194	T>A		No	ClinGen TOPMed
CA377833023 rs1565147019	194	T>I		No	ClinGen Ensembl
rs1343552073 CA377833026	195	R>K		No	ClinGen TOPMed
rs186995813 CA212178177	197	P>L		No	ClinGen 1000Genomes
CA5663053 rs769683280	202	E>V		No	ClinGen ExAC gnomAD
rs1479098130 CA377833696	203	P>S		No	ClinGen gnomAD
CA377833711 rs1166359317	204	K>Q		No	ClinGen gnomAD
CA5663054 rs147234372	206	Y>C		No	ClinGen ESP ExAC gnomAD
CA377833775 rs1156847532	208	G>R		No	ClinGen gnomAD
CA5663056 rs371640702	209	T>I		No	ClinGen ESP ExAC gnomAD
CA377833817 rs1347858816	210	N>S		No	ClinGen gnomAD
CA377833839 rs1298341462	211	M>T		No	ClinGen gnomAD
CA377833876 rs1374960256	213	K>M		No	ClinGen gnomAD
CA212178228 rs1015833855	213	K>N		No	ClinGen Ensembl
CA377835237 rs1330121797	216	M>K		No	ClinGen gnomAD
CA377835285 rs755837604	219	G>*		No	ClinGen ExAC TOPMed gnomAD
rs755837604 CA5663073	219	G>R		No	ClinGen ExAC TOPMed gnomAD
rs779933916 CA377835303	220	G>C		No	ClinGen ExAC TOPMed gnomAD
rs779933916 CA5663074	220	G>S		No	ClinGen ExAC TOPMed gnomAD
CA377835312 rs1159523469	220	G>V		No	ClinGen TOPMed
rs749424835 CA5663075	221	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5663076 rs567407243	221	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5663077 rs774349477	222	S>N		No	ClinGen ExAC gnomAD
CA212180630 rs920305351	224	S>A		No	ClinGen TOPMed
rs1309506143 CA377835414	224	S>L		No	ClinGen gnomAD
rs1565153543 CA377835425	225	S>C		No	ClinGen Ensembl
CA5663078 rs748223721	227	W>C		No	ClinGen ExAC gnomAD
rs139353076 CA5663079	228	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1424905783 CA377835545	230	Q>L		No	ClinGen TOPMed
rs1268012968 CA377835571	231	K>N		No	ClinGen TOPMed gnomAD
rs143314790 CA5663081	235	R>Q		No	ClinGen ESP ExAC TOPMed
rs773687708 CA5663080	235	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA377835676 rs1235663494	236	P>L		No	ClinGen gnomAD
CA5663083 rs546158147	238	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5663084 rs762445249	238	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5663085 rs763831156	239	H>R		No	ClinGen ExAC gnomAD
CA377835720 rs1421326416	239	H>Y		No	ClinGen gnomAD
CA212180666 rs369887575	240	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA5663086 rs147520964	240	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143872476 CA5663088	240	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs147520964 CA5663087	240	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA377835779 rs1489820975	241	T>N		No	ClinGen gnomAD
rs753866636 CA5663089	242	K>R		No	ClinGen ExAC TOPMed gnomAD
CA377835871 rs1470666937	245	P>L		No	ClinGen gnomAD
CA377835879 rs1336762740	246	G>A		No	ClinGen TOPMed gnomAD
rs997611864 CA212180671	246	G>S		No	ClinGen TOPMed
rs1357905482 CA377835913	247	S>L		No	ClinGen gnomAD
CA377835951 rs1447876849	248	E>V		No	ClinGen gnomAD
rs373187870 CA5663090	252	P>A		No	ClinGen ESP ExAC gnomAD
CA5663091 rs201550961	253	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377836123 rs1324449144	255	T>S		No	ClinGen TOPMed gnomAD
rs966772605 CA212180685	256	T>S		No	ClinGen gnomAD
rs1192175780 CA377836242	259	S>C		No	ClinGen TOPMed
rs1276481846 CA377836253	260	N>D		No	ClinGen gnomAD
CA377836265 rs1441793316	260	N>K		No	ClinGen TOPMed gnomAD
rs1039189545 CA377836537	264	G>D		No	ClinGen TOPMed
CA212180854 rs1039189545	264	G>V		No	ClinGen TOPMed
CA5663109 rs761593227	265	M>I		No	ClinGen ExAC gnomAD
rs774112751 CA5663108	265	M>T		No	ClinGen ExAC gnomAD
rs1490746556 CA377836568	265	M>V		No	ClinGen gnomAD
rs1470184074 CA377836638	266	P>S		No	ClinGen gnomAD
rs200416208 CA5663111	267	F>L		No	ClinGen ExAC gnomAD
CA377836720 rs1418311269	268	I>L		No	ClinGen gnomAD
CA5663112 rs142579610	268	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5663113 rs150542654	270	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1407302055 CA377836840	271	P>A		No	ClinGen TOPMed gnomAD
rs1407302055 CA377836855	271	P>S		No	ClinGen TOPMed gnomAD
rs574205961 CA5663114	272	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5663116 rs541437770	273	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA5663115 rs541437770	273	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA377836943 rs758138730	274	I>F		No	ClinGen gnomAD
rs758138730 CA212180890	274	I>V		No	ClinGen gnomAD
rs777518753 CA5663119	277	A>P		No	ClinGen ExAC TOPMed gnomAD
rs758632275 CA5663120	278	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1565154567 CA377837138	279	S>*		No	ClinGen Ensembl
rs1358128633 CA377837154	280	E>A		No	ClinGen gnomAD
rs1318101067 CA377837194	281	A>T		No	ClinGen gnomAD
CA377837216 rs1288692135	282	A>P		No	ClinGen gnomAD
CA212180896 rs1030448036	283	S>*		No	ClinGen Ensembl
rs777762275 CA5663121	284	A>V		No	ClinGen ExAC gnomAD
CA5663124 rs770971071	285	V>M		No	ClinGen ExAC gnomAD
rs781705779 CA5663125	286	V>F		No	ClinGen ExAC TOPMed gnomAD
CA5663126 rs746399050	289	S>P		No	ClinGen ExAC gnomAD
CA377837395 rs1356871617	290	T>K		No	ClinGen TOPMed
rs770240595 CA5663127	293	G>V		No	ClinGen ExAC gnomAD
CA212180962 rs867006242	297	S>F		No	ClinGen TOPMed
CA5663131 rs771859452	298	S>F		No	ClinGen ExAC gnomAD
CA377837728 rs1376932899	300	T>S		No	ClinGen TOPMed
rs1565154827 CA377837758	301	T>I		No	ClinGen Ensembl
rs1228691119 CA377837898	305	D>G		No	ClinGen gnomAD
rs1438828928 CA377837975	308	D>G		No	ClinGen TOPMed
rs891943686 CA212180980	308	D>Y		No	ClinGen TOPMed
CA5663133 rs760219072	309	L>I		No	ClinGen ExAC gnomAD
CA377838125 rs1315623677	313	G>V		No	ClinGen gnomAD
CA5663135 rs776602416	314	S>F		No	ClinGen ExAC gnomAD
rs1283292014 CA377838207	316	G>E		No	ClinGen TOPMed gnomAD
rs990705544 CA212180988	317	Y>C		No	ClinGen gnomAD
CA212181010 rs1023385466	318	S>G		No	ClinGen gnomAD
rs1210947898 CA377838320	318	S>R		No	ClinGen TOPMed
CA212181015 rs1045813948	319	T>R		No	ClinGen TOPMed
CA377838407 rs1358451350	321	T>A		No	ClinGen gnomAD
CA5663138 rs752490724	323	P>T		No	ClinGen ExAC gnomAD
CA212181022 rs907205958	324	G>R		No	ClinGen TOPMed
rs764360902 CA5663140	329	G>S		No	ClinGen ExAC gnomAD
CA5663141 rs751773741	331	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5663144 rs781159917	332	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5663143 rs781159917	332	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs756704424 CA5663145	336	L>F		No	ClinGen ExAC TOPMed gnomAD
rs756704424 CA5663146	336	L>V		No	ClinGen ExAC TOPMed gnomAD
CA377839125 rs1465696512	339	G>E		No	ClinGen TOPMed
rs1301183284 CA377839114	339	G>R		No	ClinGen TOPMed
rs199808158 CA5663156	341	H>P		No	ClinGen ExAC TOPMed gnomAD
CA5663155 rs765154325	341	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA5663157 rs550303244	343	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA5663158 rs146826888	346	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA377839386 rs1379408971	348	A>S		No	ClinGen gnomAD
rs1565155722 CA377839408	349	S>P		No	ClinGen Ensembl
rs757439503 CA5663160	352	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1054318541 CA212181387	353	I>T		No	ClinGen Ensembl
rs1296006988 CA377839895	355	E>A		No	ClinGen gnomAD
rs750538252 CA5663162	358	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5663163 rs756332359	359	E>V		No	ClinGen ExAC TOPMed gnomAD
rs780696375 CA5663164	361	T>M		No	ClinGen ExAC TOPMed gnomAD
CA212181417 rs867932573	362	S>F		No	ClinGen Ensembl
CA5663166 rs755339601	362	S>F		No	ClinGen ExAC TOPMed gnomAD
CA5663168 rs41293038	365	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5663169 rs770493002	365	D>V		No	ClinGen ExAC gnomAD
CA377840144 rs1488105618	368	D>A		No	ClinGen gnomAD
rs780962921 CA5663170	368	D>E		No	ClinGen ExAC TOPMed gnomAD
rs146663913 CA212181468	369	S>P		No	ClinGen ESP
rs1565155940 CA377840177	370	A>T		No	ClinGen Ensembl
CA212181469 rs1003880241	370	A>V		No	ClinGen Ensembl
CA5663171 rs745369086	373	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1431499385 CA377840283	374	D>N		No	ClinGen gnomAD
rs117330938 CA5663172	375	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377840344 rs1239609120	375	M>V		No	ClinGen TOPMed
rs760868521 CA5663174	378	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5663175 rs768446265	379	N>S		No	ClinGen ExAC gnomAD
rs1356239999 CA377840527	380	P>S		No	ClinGen TOPMed
rs1294908788 CA377840566	381	R>Q		No	ClinGen TOPMed gnomAD
rs140446462 CA5663176	381	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375568604 CA5663178	383	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs548224284 CA212181508	384	R>H		No	ClinGen TOPMed
CA377840731 rs1301241477	385	F>L		No	ClinGen gnomAD
CA377840816 rs1284335918	387	Q>L		No	ClinGen TOPMed gnomAD
CA377840813 rs1284335918	387	Q>R		No	ClinGen TOPMed gnomAD
rs766606771 CA5663182	390	Q>R		No	ClinGen ExAC gnomAD
CA212181951 rs144139921	395	A>P		No	ClinGen ESP TOPMed gnomAD
rs1046955179 CA212181962	396	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5663196 rs201352338	399	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1237458108 CA377841289	400	G>S		No	ClinGen gnomAD
CA377841392 rs1183398403	403	C>S		No	ClinGen gnomAD
CA5663197 rs773537268	403	C>Y		No	ClinGen ExAC gnomAD
CA5663198 rs201251402	405	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1425226026 CA377841448	405	R>H		No	ClinGen TOPMed gnomAD
CA377841466 rs1329959630	406	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA377841505 rs1354442375	407	L>F		No	ClinGen gnomAD
CA5663200 rs547325224	409	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1038173884 CA212181991	409	R>H		No	ClinGen TOPMed gnomAD
CA377841559 rs1038173884	409	R>P		No	ClinGen TOPMed gnomAD
CA377841568 rs1192188503	410	F>L		No	ClinGen TOPMed
rs759726441 CA5663201	414	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1011724834 CA212181997	415	T>I		No	ClinGen TOPMed gnomAD
CA5663202 rs765646818	416	N>S		No	ClinGen ExAC TOPMed gnomAD
CA377841765 rs1216846297	417	P>S		No	ClinGen gnomAD
CA212182012 rs74507748	419	D>A		No	ClinGen gnomAD
CA5663204 rs41303829	419	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA5663205 rs370045381	420	R>C		No	ClinGen ESP ExAC gnomAD
CA212182022 rs868387038	420	R>H		No	ClinGen TOPMed gnomAD
CA5663206 rs750026387	423	S>*		No	ClinGen ExAC gnomAD
rs779474592 CA5663208	425	V>I		No	ClinGen ExAC TOPMed gnomAD
CA212182056 rs867269627	428	H>Y		No	ClinGen Ensembl
rs1425210293 CA377842317	429	M>V		No	ClinGen gnomAD
CA377842398 rs1415557859	431	L>M		No	ClinGen gnomAD
rs1415557859 CA377842399	431	L>V		No	ClinGen gnomAD
rs374098061 CA212182070	437	A>T		No	ClinGen ESP
CA377842637 rs1274722751	437	A>V		No	ClinGen TOPMed
CA5663210 rs754578473	438	L>F		No	ClinGen ExAC gnomAD
rs778697915 CA5663211	439	E>*		No	ClinGen ExAC gnomAD
rs778697915 CA5663212	439	E>K		No	ClinGen ExAC gnomAD
rs367728852 CA212182079	441	A>V		No	ClinGen Ensembl
CA212182098 rs539053933	442	P>R		No	ClinGen 1000Genomes gnomAD
CA377842748 rs771953360	442	P>S		No	ClinGen ExAC TOPMed gnomAD
rs771953360 CA5663213	442	P>T		No	ClinGen ExAC TOPMed gnomAD
rs773164723 CA5663214	443	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1269681290 CA377842873	447	Q>E		No	ClinGen gnomAD
rs771272758 CA5663216	455	D>N		No	ClinGen ExAC TOPMed gnomAD
CA212182127 rs748540233	457	M>L		No	ClinGen Ensembl
CA5663217 rs187230639	459	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377843434 rs1287834180	462	F>L		No	ClinGen TOPMed gnomAD
rs894131912 CA212182832	465	L>F		No	ClinGen TOPMed
rs1565158600 CA377843939	465	L>P		No	ClinGen Ensembl
rs1238034972 CA377844026	467	I>T		No	ClinGen gnomAD
CA377844056 rs1284516849	468	E>G		No	ClinGen gnomAD
CA5663253 rs752258883	469	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5663255 rs143113721	469	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5663254 rs143113721	469	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377844165 rs1271999614	472	L>F		No	ClinGen gnomAD
rs781059015 CA5663258	476	S>F		No	ClinGen ExAC gnomAD
CA5663259 rs375518420	478	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1323019042 CA377844382	479	V>I		No	ClinGen gnomAD
rs770056316 CA5663260	480	C>S		No	ClinGen ExAC gnomAD
CA5663262 rs201781801	486	S>N		No	ClinGen ExAC TOPMed gnomAD
CA377844673 rs1417325464	487	M>I		No	ClinGen gnomAD
CA5663265 rs762342653	488	R>Q	Variant assessed as Somatic; 0.0001849 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772275542 CA5663266	489	E>K		No	ClinGen ExAC gnomAD
CA212182909 rs867227175	491	L>F		No	ClinGen Ensembl
CA377844766 rs1270621266	491	L>H		No	ClinGen TOPMed
rs773640243 CA5663267	492	K>R		No	ClinGen ExAC gnomAD
CA5663268 rs759045875	493	F>L		No	ClinGen ExAC gnomAD
CA377846215 rs1197667682	499	I>V		No	ClinGen gnomAD
CA5663285 rs148115728	504	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1434173825 CA377846339	505	I>M		No	ClinGen TOPMed gnomAD
rs778987610 CA5663286	506	I>F		No	ClinGen ExAC TOPMed gnomAD
rs772639200 CA5663288	506	I>T		No	ClinGen ExAC gnomAD
rs778987610 CA5663287	506	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5663289 rs773660432	507	T>A		No	ClinGen ExAC gnomAD
CA5663290 rs761077116	509	E>D		No	ClinGen ExAC gnomAD
rs1209199886 CA377846422	510	N>D		No	ClinGen gnomAD
rs1488742448 CA377846471	512	K>E		No	ClinGen gnomAD
rs541474742 CA5663292	512	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1259809356 CA377846520	513	M>I		No	ClinGen gnomAD
CA377846530 rs1225680608	514	P>A		No	ClinGen TOPMed
CA5663293 rs762717029	514	P>H		No	ClinGen ExAC gnomAD
CA377846553 rs1298902590	515	Y>H		No	ClinGen TOPMed
rs763636249 CA5663294	518	K>E		No	ClinGen ExAC gnomAD
CA5663296 rs761294236	519	E>G		No	ClinGen ExAC gnomAD
CA5663295 rs773998573	519	E>Q		No	ClinGen ExAC gnomAD
CA5663297 rs767473218	522	L>M		No	ClinGen ExAC gnomAD
CA5663299 rs755909292	525	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1565159880 CA377846985	527	Q>R		No	ClinGen Ensembl
CA377847014 rs1295951891	528	L>V		No	ClinGen gnomAD
rs1383665775 CA377847073	529	W>C		No	ClinGen gnomAD
CA5663300 rs140964970	530	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377847086 rs1302695631	530	R>H		No	ClinGen TOPMed gnomAD
CA212183490 rs569583197	532	P>L		No	ClinGen ExAC TOPMed gnomAD
rs569583197 CA5663302	532	P>R		No	ClinGen ExAC TOPMed gnomAD
CA212183487 rs868293075	532	P>S		No	ClinGen Ensembl
rs778898074 CA5663303	533	S>N		No	ClinGen ExAC gnomAD
CA377847241 rs1219151168	536	T>A		No	ClinGen gnomAD
CA5663305 rs139027252	537	E>A		No	ClinGen ESP ExAC gnomAD
rs1210534635 CA377847345	538	L>V		No	ClinGen gnomAD
CA377847406 rs1389331338	539	Y>C		No	ClinGen TOPMed
CA377847474 rs1452511985	541	N>D		No	ClinGen gnomAD
CA377847500 rs1192870701	541	N>S		No	ClinGen TOPMed gnomAD
CA5663306 rs778310304	542	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5663307 rs747500588	543	D>E		No	ClinGen ExAC gnomAD
rs771276617 CA5663308	544	C>Y		No	ClinGen ExAC gnomAD
rs1306895248 CA377847612	547	Y>*		No	ClinGen gnomAD
CA377847598 rs1198220603	547	Y>H		No	ClinGen TOPMed
rs777148756 CA5663309	548	C>S		No	ClinGen ExAC gnomAD
CA212183520 rs769229880	548	C>Y		No	ClinGen Ensembl
rs1452314061 CA377847655	549	S>F		No	ClinGen TOPMed
rs748878816 CA5663310	550	N>I		No	ClinGen ExAC gnomAD
CA5663311 rs748878816	550	N>S		No	ClinGen ExAC gnomAD
rs774202697 CA377847679	551	L>F		No	ClinGen ExAC TOPMed gnomAD
rs774202697 CA5663312	551	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1341827024 CA377847701	552	F>V		No	ClinGen TOPMed
CA377847739 rs1275828919	553	E>A		No	ClinGen TOPMed
CA377847759 rs1356886249	554	E>A		No	ClinGen Ensembl
CA377847784 rs1378161287	555	L>V		No	ClinGen gnomAD
CA377847803 rs1305246984	556	T>A		No	ClinGen gnomAD
rs1346307970 CA377847815	556	T>I		No	ClinGen TOPMed
rs1245715969 CA377847868	559	L>P		No	ClinGen gnomAD
rs760556909 CA5663316	561	K>E		No	ClinGen ExAC gnomAD
rs760598831 CA5663335	565	P>A		No	ClinGen ExAC
rs1483451976 CA377848100	566	V>M		No	ClinGen gnomAD
rs776611554 CA5663338	568	G>A		No	ClinGen ExAC gnomAD
rs373158321 CA5663336	568	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs776611554 CA5663337	568	G>V		No	ClinGen ExAC gnomAD
CA5663339 rs746072298	569	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA377848190 rs1425069052	571	Y>C		No	ClinGen gnomAD
CA377848259 rs1322699960	574	H>N		No	ClinGen TOPMed
CA377848298 rs1317705858	575	L>V		No	ClinGen TOPMed
CA5663341 rs763094217	577	S>F		No	ClinGen ExAC TOPMed
CA377848390 rs1315114905	580	A>S		No	ClinGen gnomAD
rs1565161837 CA377848447	584	V>M		No	ClinGen Ensembl
rs1010217845 CA212184177	586	D>H		No	ClinGen TOPMed gnomAD
rs1010217845 CA212184175	586	D>N		No	ClinGen TOPMed gnomAD
rs756509766 CA5663347 CA5663348	589	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5663346 rs751005476	589	E>K		No	ClinGen ExAC gnomAD
CA5663349 rs576060189	591	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777552871 CA5663351	594	A>P		No	ClinGen ExAC gnomAD
CA377848818 rs746490881	597	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746490881 CA5663352	597	L>V		No	ClinGen ExAC gnomAD
rs1474141068 CA377848894	600	L>V		No	ClinGen gnomAD
rs369179789 CA5663354	601	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5663353 rs369179789	601	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1434217403 CA377848985	604	E>V		No	ClinGen gnomAD
rs904421555 CA212184233	607	E>A		No	ClinGen Ensembl
CA212184235 rs770041420	610	R>G		No	ClinGen TOPMed
rs1175920937 CA377849048	611	P>A		No	ClinGen TOPMed gnomAD
rs1175920937 CA377849049	611	P>S		No	ClinGen TOPMed gnomAD
rs775698031 CA212184258	612	S>R		No	ClinGen Ensembl
CA212184262 rs1034184000	613	C>R		No	ClinGen TOPMed gnomAD
rs769517145 CA5663357	613	C>Y		No	ClinGen ExAC gnomAD
CA5663358 rs775149099	614	E>K		No	ClinGen ExAC gnomAD
rs544496280 CA5663359	615	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749302489 CA212184273	616	V>A		No	ClinGen gnomAD
rs768647533 CA212184275	618	G>D		No	ClinGen TOPMed gnomAD
CA212184276 rs766618538	620	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs751856596 CA5663361	620	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1444832841 CA377849113	621	E>D		No	ClinGen TOPMed gnomAD
rs1452871495 CA377849111	621	E>V		No	ClinGen Ensembl
rs761951283 CA5663362	622	A>G		No	ClinGen ExAC gnomAD
rs1214490807 CA377849114	622	A>S		No	ClinGen TOPMed gnomAD
CA5663363 rs767738433	624	N>S		No	ClinGen ExAC gnomAD
rs1447336568 CA377849301	629	A>T		No	ClinGen gnomAD
rs1441106255 CA377849332	631	D>N		No	ClinGen gnomAD
rs1336373725 CA377849387	634	A>V		No	ClinGen gnomAD
rs767648426 CA5663385	635	V>I		No	ClinGen ExAC gnomAD
CA377849401 rs1271942471	636	G>D		No	ClinGen gnomAD
CA5663387 rs373473790	637	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5663386 rs773430635	637	M>V		No	ClinGen ExAC gnomAD
CA377849444 rs1275621944	640	D>G		No	ClinGen gnomAD
rs754421310 CA5663389	641	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1258466260 CA377849468	642	P>Q		No	ClinGen gnomAD
CA212184829 rs993915455	642	P>T		No	ClinGen TOPMed
rs1272379889 CA377849505	645	H>Q		No	ClinGen TOPMed
CA5663392 rs200621054	645	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1204413325 CA377849522	647	P>S		No	ClinGen TOPMed
CA5663394 rs780885558	648	G>D		No	ClinGen ExAC gnomAD
rs745369019 CA5663395	649	G>E		No	ClinGen ExAC TOPMed gnomAD
CA377849563 rs1409131702	650	G>E		No	ClinGen gnomAD
CA5663396 rs755698017	651	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA212184871 rs149619519	651	R>W		No	ClinGen ESP TOPMed
CA5663397 rs779823710	654	P>A		No	ClinGen ExAC gnomAD
rs758922493 CA212184893	654	P>L		No	ClinGen Ensembl
rs749276534 CA5663398	657	G>E		No	ClinGen ExAC TOPMed gnomAD
CA377849666 rs1284172232	658	K>R		No	ClinGen TOPMed
CA5663400 rs774211367	660	G>R		No	ClinGen ExAC gnomAD
CA5663402 rs772420277	661	C>Y		No	ClinGen ExAC gnomAD
CA377849805 rs1486782547	666	E>K		No	ClinGen gnomAD
CA5663405 rs766524397	668	V>G		No	ClinGen ExAC gnomAD
rs760820062 CA5663404	668	V>I		No	ClinGen ExAC gnomAD
rs1349080330 CA377849902	670	S>F		No	ClinGen TOPMed
CA5663406 rs199587971	670	S>P		No	ClinGen ExAC TOPMed gnomAD
CA5663407 rs760100141	671	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1327123598 CA377850896	672	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA377851044 rs1365372786	675	K>T		No	ClinGen TOPMed
CA5663426 rs776025507	678	R>Q		No	ClinGen ExAC gnomAD
rs770317776 CA5663425	678	R>W		No	ClinGen ExAC gnomAD
rs1303078049 CA377851129	679	K>N		No	ClinGen gnomAD
CA212186388 rs757603453	681	P>L		No	ClinGen Ensembl
rs763273379 CA5663427	682	R>*		No	ClinGen ExAC TOPMed gnomAD
CA212186389 rs1038693067	682	R>Q		No	ClinGen TOPMed
rs1214290000 CA377851277	687	L>Q		No	ClinGen gnomAD
CA5663428 rs764472295	688	P>A		No	ClinGen ExAC gnomAD
CA5663431 rs765742651	691	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5663430 rs760390459	691	R>W		No	ClinGen ExAC gnomAD
CA377851362 rs1420520362	692	E>K		No	ClinGen gnomAD
rs778975217 CA5663434	694	I>M		No	ClinGen ExAC gnomAD
rs754505780 CA5663433	694	I>T		No	ClinGen ExAC gnomAD
CA377851509 rs1450787777	698	N>S		No	ClinGen gnomAD
rs1206001014 CA377851526	699	K>E		No	ClinGen TOPMed
CA5663449 rs753483030	705	T>I		No	ClinGen ExAC gnomAD
CA212187820 rs1046438831	711	N>S		No	ClinGen gnomAD
CA377852039 rs1296762658	712	Q>E		No	ClinGen gnomAD
CA377852211 rs1295219942	719	Q>P		No	ClinGen TOPMed gnomAD
CA377852213 rs1295219942	719	Q>R		No	ClinGen TOPMed gnomAD
rs928775731 CA212187831	720	F>I		No	ClinGen Ensembl
CA212187839 rs899347346	722	Q>E		No	ClinGen TOPMed
rs559879280 CA5663453	724	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA212187861 rs1047937164	725	G>A		No	ClinGen gnomAD
rs1047937164 CA377853471	725	G>D		No	ClinGen gnomAD
CA5663455 rs751351600	728	T>I		No	ClinGen ExAC TOPMed gnomAD
CA377853613 rs533175104	729	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs887828833 CA212187867	729	I>V		No	ClinGen TOPMed gnomAD
rs1212562995 CA377853631	730	P>S		No	ClinGen gnomAD
CA5663459 rs746107272	731	M>I		No	ClinGen ExAC TOPMed gnomAD
rs374546968 CA5663458	731	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs780120198 CA5663461	734	T>A		No	ClinGen ExAC gnomAD
rs1430772882 CA377853854	734	T>I		No	ClinGen gnomAD
rs1168785180 CA377853893	735	E>G		No	ClinGen gnomAD
CA212187892 rs560906184	735	E>K		No	ClinGen Ensembl
CA5663462 rs148639461	736	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1315006276 CA377853999	737	A>D		No	ClinGen gnomAD
rs368423984 CA212187893	737	A>S		No	ClinGen ESP TOPMed gnomAD
CA377854034 rs1373756831	738	Q>R		No	ClinGen TOPMed gnomAD
CA377854099 rs1447417446	741	R>*		No	ClinGen gnomAD
CA377854103 rs1289480368	741	R>Q		No	ClinGen gnomAD
CA5663463 rs769149115	742	E>G		No	ClinGen ExAC TOPMed gnomAD
rs532707284 CA212187913	743	N>S		No	ClinGen TOPMed gnomAD
CA5663466 rs772367153	745	R>P		No	ClinGen ExAC TOPMed gnomAD
rs772367153 CA377854193	745	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5663465 rs748525369	745	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA377854243 rs201356370	747	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5663467 rs776310449	747	D>G		No	ClinGen ExAC gnomAD
CA5663470 rs764785682	751	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1286008233 CA377854415	753	E>*		No	ClinGen TOPMed
rs1589793622 CA377854442	754	F>V		No	ClinGen Ensembl
rs987950617 CA212187954	755	V>L		No	ClinGen TOPMed gnomAD
CA5663473 rs764096905	758	R>C		No	ClinGen ExAC gnomAD
rs372320027 CA5663474	758	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA5663475 rs757036735	760	N>T		No	ClinGen ExAC gnomAD
CA377854627 rs1268353372	761	I>F		No	ClinGen TOPMed gnomAD
CA377854638 rs1414051845	761	I>M		No	ClinGen gnomAD
rs141624228 CA5663477	761	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141624228 CA5663476	761	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5663478 rs200567695	762	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1589793720 CA377854724	765	E>Q		No	ClinGen Ensembl
CA377854791 rs1589793729	766	S>T		No	ClinGen Ensembl
CA5663481 rs375948001	768	V>L		No	ClinGen ESP ExAC TOPMed
CA377854935 rs1442861552	769	S>T		No	ClinGen gnomAD
CA377855095 rs1322333302	770	T>N		No	ClinGen TOPMed
rs1359792199 CA377855124	771	F>L		No	ClinGen gnomAD
rs1216081573 CA377855223	777	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778886057 CA5663500	777	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1565168478 CA377855248	779	D>H		No	ClinGen Ensembl
rs1234837264 CA377855301	781	A>G		No	ClinGen gnomAD
CA377855315 rs1468761872	783	R>C		No	ClinGen TOPMed gnomAD
rs1181558513 CA377855322	783	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1181558513 CA377855323	783	R>P		No	ClinGen TOPMed gnomAD
rs778399961 CA5663503	784	L>F		No	ClinGen ExAC gnomAD
CA5663504 rs747353743	785	Y>H		No	ClinGen ExAC gnomAD
rs1477015927 CA377855380	787	E>A		No	ClinGen TOPMed
CA5663506 rs779808759	788	A>G		No	ClinGen ExAC gnomAD
CA212188623 rs755249587	788	A>T		No	ClinGen Ensembl
rs1246149215 CA377855439	790	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1408775773 CA377855602	796	P>L		No	ClinGen gnomAD
CA377855760 rs1222415059	802	L>P		No	ClinGen TOPMed
rs773737604 CA5663509	807	E>D		No	ClinGen ExAC gnomAD
CA377855886 rs1589796697	807	E>G		No	ClinGen Ensembl
CA377855873 rs1293434421	807	E>K		No	ClinGen gnomAD
rs761451534 CA5663510	808	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5663511 rs143973197	808	R>H	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA377855903 rs143973197	808	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377855924 rs1198395236	809	W>*		No	ClinGen TOPMed
CA5663530 rs546158529	811	N>I		No	ClinGen 1000Genomes ExAC gnomAD
CA5663531 rs770657956	812	C>F		No	ClinGen ExAC gnomAD
CA5663532 rs776419990	813	N>Y		No	ClinGen ExAC gnomAD
CA377856226 rs1479362058	814	G>V		No	ClinGen gnomAD
CA5663533 rs759446591	815	S>T		No	ClinGen ExAC gnomAD
rs765350960 CA5663534	816	P>L		No	ClinGen ExAC gnomAD
rs752999109 CA5663535	819	N>S		No	ClinGen ExAC gnomAD
rs1348742287 CA377856825	832	M>V		No	ClinGen TOPMed
CA377857034 rs1565169805	838	H>R		No	ClinGen Ensembl
rs757842068 CA377857148	841	N>I		No	ClinGen ExAC TOPMed gnomAD
rs757842068 CA5663539	841	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5663541 rs750740089	842	V>A		No	ClinGen ExAC gnomAD
CA5663540 rs768204839	842	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5663542 rs756551462	843	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778399592 CA5663543	843	R>H		No	ClinGen ExAC gnomAD
rs776595449 CA5663550	855	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5663551 rs377075024	855	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs371002874 CA5663552	859	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5663554 rs763248229	861	V>M		No	ClinGen ExAC gnomAD
CA5663555 rs764201054	865	K>Q		No	ClinGen ExAC gnomAD
CA377858964 rs1565170306	865	K>T		No	ClinGen Ensembl
rs1373612833 CA377859046	867	F>S		No	ClinGen gnomAD
rs567914594 CA5663557	874	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA377859386 rs1328419464	875	M>I		No	ClinGen gnomAD
CA5663559 rs535041761	875	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5663558 rs768116819	875	M>V		No	ClinGen ExAC gnomAD
CA377859393 rs1357908120	876	Y>D		No	ClinGen TOPMed
rs373305391 CA212189436	877	H>R		No	ClinGen ESP TOPMed
CA377859918 rs767737968	889	E>D		No	ClinGen ExAC gnomAD
CA377859989 rs1214573845	892	G>V		No	ClinGen TOPMed
CA5663577 rs773545596	893	L>F		No	ClinGen ExAC TOPMed gnomAD
rs931736030 CA212189635	894	V>I		No	ClinGen TOPMed
rs761259370 CA5663578	895	R>Q		No	ClinGen ExAC gnomAD
CA212189639 rs1050547266	895	R>W		No	ClinGen TOPMed gnomAD
CA377860141 rs1399692639	897	N>I		No	ClinGen Ensembl
rs766589418 CA5663579	898	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs766589418 CA5663580	898	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA377860198 rs1373973440	899	V>M		No	ClinGen gnomAD
CA5663581 rs759956553	902	V>M		No	ClinGen ExAC TOPMed gnomAD
CA212189676 rs149719790	904	L>F		No	ClinGen ESP gnomAD
CA5663582 rs763717750	904	L>R		No	ClinGen ExAC TOPMed
rs751238739 CA5663583	906	R>Q		No	ClinGen ExAC gnomAD
rs756705596 CA5663584	907	G>D		No	ClinGen ExAC gnomAD
rs1304588837 CA377860474	909	T>A		No	ClinGen gnomAD
rs756072497 CA5663587	913	I>M		No	ClinGen ExAC TOPMed gnomAD
CA377860657 rs1227655778	913	I>R		No	ClinGen gnomAD
rs202134437 CA212189693	913	I>V		No	ClinGen 1000Genomes
CA5663588 rs779913700	914	F>L		No	ClinGen ExAC gnomAD
CA212189716 rs868777845	916	R>C		No	ClinGen TOPMed gnomAD
CA5663590 rs768612927	916	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5663591 rs768612927	916	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1212441108 CA377860816	918	P>S		No	ClinGen gnomAD
rs773349824 CA5663594	922	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1167036419 CA377861021	924	L>P		No	ClinGen gnomAD
rs1451700712 CA377861014	924	L>V		No	ClinGen gnomAD
CA377861033 rs1389785457	925	D>N		No	ClinGen TOPMed gnomAD
rs375152700 CA5663595	928	T>S		No	ClinGen ESP ExAC gnomAD
rs1262185394 CA377861290	932	G>V		No	ClinGen TOPMed
CA377861369 rs1273605394	935	I>T		No	ClinGen TOPMed
CA5663599 rs765604208	935	I>V		No	ClinGen ExAC gnomAD
rs368631852 CA212189746	936	A>T		No	ClinGen ESP TOPMed gnomAD
rs751152589 CA5663600	937	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1371308005 CA377861433	937	A>V		No	ClinGen gnomAD
CA5663601 rs761456482	938	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1275942850 CA377861514	939	S>F		No	ClinGen TOPMed gnomAD
CA377861522 rs1311098279	940	Y>D		No	ClinGen gnomAD
CA5663603 rs780969299	940	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA5663605 rs780009452	942	F>I		No	ClinGen ExAC gnomAD
CA5663606 rs562563900	945	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA377861781 rs1247739624	946	L>F		No	ClinGen gnomAD
rs1324624507 CA377861815	947	E>Q		No	ClinGen gnomAD
rs1565171760 CA377861910	950	I>N		No	ClinGen Ensembl
CA212189799 rs142478596	951	I>T		No	ClinGen ESP gnomAD
CA377862394 rs1261673685	961	C>Y		No	ClinGen TOPMed
CA5663632 rs147884416	962	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377862409 rs147884416	962	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147884416 CA5663631	962	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781250160 CA5663635	965	S>C		No	ClinGen ExAC gnomAD
CA377862526 rs768258634	966	A>S		No	ClinGen TOPMed gnomAD
CA212189996 rs768258634	966	A>T		No	ClinGen TOPMed gnomAD
CA377862564 rs1288111859	967	H>R		No	ClinGen gnomAD
rs905235305 CA212190002	968	Y>C		No	ClinGen TOPMed gnomAD
CA377862620 rs1565172350	969	G>R		No	ClinGen Ensembl
rs748802874 CA5663637	970	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1418489614 CA377862696	972	D>N		No	ClinGen TOPMed gnomAD
rs1418489614 CA377862702	972	D>Y		No	ClinGen TOPMed gnomAD
CA377862749 rs1158920355	973	V>A		No	ClinGen TOPMed
CA377862771 rs1473712482	974	F>S		No	ClinGen gnomAD
rs1589803791 CA377862789	975	D>N		No	ClinGen Ensembl
CA5663640 rs768933298	980	S>F		No	ClinGen ExAC gnomAD
rs1415542577 CA377862982	983	K>Q		No	ClinGen TOPMed
CA212190051 rs985889119	986	A>V		No	ClinGen TOPMed gnomAD
rs1475508449 CA377863063	987	L>I		No	ClinGen TOPMed
CA5663642 rs760258826	988	S>G		No	ClinGen ExAC gnomAD
CA377863114 rs1368261616	989	S>C		No	ClinGen gnomAD
CA377863244 rs1416404351	992	I>V		No	ClinGen TOPMed
CA377863325 rs1403683328	996	P>L		No	ClinGen gnomAD
CA5663656 rs747525720	996	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1332755360 CA377863329	997	S>C		No	ClinGen gnomAD
rs1332755360 CA377863334	997	S>G		No	ClinGen gnomAD
CA5663658 rs376364127	998	V>I		No	ClinGen ESP ExAC gnomAD
CA377863382 rs1300220331	999	F>L		No	ClinGen gnomAD
CA377863475 rs1256703508	1002	N>K		No	ClinGen gnomAD
rs748615360 CA5663660	1002	N>S		No	ClinGen ExAC gnomAD
CA5663661 rs770696398	1004	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5663662 rs776474388	1006	H>P		No	ClinGen ExAC gnomAD
rs1277839888 CA377863575	1006	H>Y		No	ClinGen gnomAD
CA5663663 rs759089542	1007	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5663664 rs369082780	1008	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5663665 rs775435513	1009	A>V		No	ClinGen ExAC TOPMed gnomAD
rs762800412 CA5663666	1013	F>L		No	ClinGen ExAC gnomAD
rs1484379045 CA377863878	1016	A>T		No	ClinGen TOPMed
rs1279016956 CA377863897	1017	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1378917670 CA377863919	1018	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1476762556 CA377863924	1018	R>H		No	ClinGen TOPMed gnomAD
rs1171413895 CA377863968	1020	G>D		No	ClinGen gnomAD
CA5663667 rs373004024	1021	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA5663669 rs370706004	1024	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5663668 rs376621882	1024	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA377864158 rs1412891567	1027	W>R		No	ClinGen TOPMed
CA377864281 rs868511571	1031	M>L		No	ClinGen gnomAD
CA212190399 rs868511571	1031	M>V		No	ClinGen gnomAD
CA377864341 rs1302266901	1032	E>Q		No	ClinGen gnomAD
CA377864414 rs1329830701	1034	M>I		No	ClinGen gnomAD
CA377864404 rs1274286029	1034	M>T		No	ClinGen gnomAD
CA377864394 rs1231206259	1034	M>V		No	ClinGen gnomAD
rs1364082114 CA377864557	1039	R>*		No	ClinGen TOPMed gnomAD
CA377864553 rs1364082114	1039	R>G		No	ClinGen TOPMed gnomAD
CA5663671 rs778400699	1039	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5663674 rs184332235	1045	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755437082 CA5663675	1048	I>T		No	ClinGen ExAC TOPMed gnomAD
rs576688207 CA212190647	1050	V>L		No	ClinGen Ensembl
rs1303886223 CA377866895	1053	F>I		No	ClinGen TOPMed
rs753282830 CA5663696	1054	V>E		No	ClinGen ExAC gnomAD
rs763075099 CA5663695	1054	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5663697 rs533700226	1055	D>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1306861247 CA377867005	1055	D>Y		No	ClinGen TOPMed
CA377867091 rs1206655045	1057	N>S		No	ClinGen TOPMed gnomAD
CA5663698 rs778282357	1060	I>F		No	ClinGen ExAC gnomAD
rs755811590 CA5663700	1063	Q>R		No	ClinGen ExAC gnomAD
rs377576744 CA5663702	1064	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5663703 rs377576744	1064	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs779802929 CA5663701	1064	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1007982063 CA212190771	1065	E>K		No	ClinGen gnomAD
rs1480617252 CA377867484	1067	T>I		No	ClinGen TOPMed gnomAD
CA377867647 rs959993762	1071	R>*		No	ClinGen TOPMed gnomAD
CA212190781 rs959993762	1071	R>G		No	ClinGen TOPMed gnomAD
CA5663705 rs141975394	1071	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5663724 rs773172200	1082	W>*		No	ClinGen ExAC gnomAD
rs765439804 CA5663729	1094	R>Q		No	ClinGen ExAC gnomAD
CA5663728 rs374309391	1094	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs367576562 CA5663732	1095	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA212190961 rs548665033	1101	Q>E		No	ClinGen Ensembl
rs1269243770 CA377869121	1104	K>E		No	ClinGen gnomAD
rs150255203 CA5663734	1104	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1565174402 CA377869322	1107	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs767929383 CA5663735	1109	E>Q		No	ClinGen ExAC gnomAD
CA5663736 rs753374434	1110	C>Y		No	ClinGen ExAC gnomAD
CA377869843 rs1467509909	1113	Q>E		No	ClinGen TOPMed
CA377870004 rs1490211067	1117	E>G		No	ClinGen gnomAD
CA5663754 CA377870074 rs750794908	1119	M>I		No	ClinGen ExAC gnomAD
CA212191245 rs1037545409	1119	M>L		No	ClinGen TOPMed gnomAD
rs1285464280 CA377870072	1119	M>T		No	ClinGen TOPMed
rs1037545409 CA377870055	1119	M>V		No	ClinGen TOPMed gnomAD
CA377870401 rs1157829945	1128	L>Q		No	ClinGen TOPMed gnomAD
CA377870541 rs1364502343	1132	Q>*		No	ClinGen gnomAD
rs931275137 CA212191328	1132	Q>H		No	ClinGen Ensembl
rs1309272065 CA377870677	1135	M>L		No	ClinGen gnomAD
CA377870685 rs1352919559	1135	M>T		No	ClinGen gnomAD
CA5663777 rs762603335	1137	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1009970786 CA212191520	1138	L>V		No	ClinGen Ensembl
rs751053239 CA5663779	1139	V>L		No	ClinGen ExAC gnomAD
rs1201557102 CA377871072	1141	V>A		No	ClinGen gnomAD
rs377000811 CA5663781	1141	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1330036272 CA377871111	1142	T>I		No	ClinGen TOPMed gnomAD
rs1210799147 CA377871138	1144	D>H		No	ClinGen gnomAD
rs1242275792 CA377871197	1145	E>K		No	ClinGen gnomAD
rs1437099731 CA377871237	1146	E>Q		No	ClinGen TOPMed
CA377871354 rs1387879473	1148	Y>C		No	ClinGen gnomAD
rs1190102228 CA377871325	1148	Y>H		No	ClinGen gnomAD
rs1589809424 CA377871487	1151	E>G		No	ClinGen Ensembl
CA377871541 rs1254528984	1153	A>T		No	ClinGen gnomAD
CA5663782 rs200564979	1153	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780010684 CA5663784	1162	R>G		No	ClinGen ExAC
CA377872048 rs1429234651	1162	R>S		No	ClinGen TOPMed
rs749153628 CA377872073	1163	I>N		No	ClinGen ExAC gnomAD
rs749153628 CA5663785	1163	I>T		No	ClinGen ExAC gnomAD
rs1170663745 CA377872190	1165	L>S		No	ClinGen TOPMed
CA5663789 rs772064854	1166	E>A		No	ClinGen ExAC TOPMed gnomAD
rs374092781 CA5663817	1170	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5663818 rs367953312	1170	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs367953312 CA212191786	1170	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5663816 rs374092781	1170	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA212191792 rs889816880	1171	V>M		No	ClinGen Ensembl
CA5663819 rs552315980	1172	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA377872694 rs1450494383	1175	W>R		No	ClinGen TOPMed
CA5663822 rs372057718	1179	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs191279744 CA5663823	1179	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752904786 CA5663824	1180	D>E		No	ClinGen ExAC gnomAD
rs758532032 CA5663825	1181	H>L		No	ClinGen ExAC TOPMed gnomAD
CA377872906 rs1414894886	1181	H>N		No	ClinGen TOPMed
CA377873066 rs1422857194	1186	C>S		No	ClinGen TOPMed gnomAD
CA377873105 rs1302579114	1187	V>I		No	ClinGen gnomAD
rs1010456959 CA212191912	1189	A>T		No	ClinGen TOPMed gnomAD
rs1304689068 CA377873300	1190	Q>*		No	ClinGen gnomAD
rs572133921 CA212191918	1191	D>V		No	ClinGen gnomAD
CA377873397 rs1473578409	1192	F>S		No	ClinGen TOPMed
CA212191920 rs371003806	1193	C>S		No	ClinGen Ensembl
CA377873467 rs1554981137	1195	L>P		No	ClinGen Ensembl
rs7894865 CA5663828	1196	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1052993330 CA212191921	1197	E>K		No	ClinGen TOPMed gnomAD
CA5663830 rs375763119	1198	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5663829 rs370972697	1198	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5663831 rs373155160	1199	A>P		No	ClinGen ESP ExAC gnomAD
rs1248965836 CA377873711	1201	V>A		No	ClinGen gnomAD
CA5663832 rs199813163	1201	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5663833 rs199813163	1201	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5663834 rs146176839	1205	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377873901 rs146176839	1205	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771601767 CA212191952	1205	R>H		No	ClinGen gnomAD
CA5663836 rs574491350	1208	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5663837 rs760213274	1209	R>W		No	ClinGen ExAC TOPMed gnomAD
CA212191961 rs770594169	1212	R>G		No	ClinGen ExAC gnomAD
rs776641967 CA5663839	1212	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs770594169 CA5663838	1212	R>W		No	ClinGen ExAC gnomAD
CA377874152 rs1589810912	1213	R>K		No	ClinGen Ensembl
CA212191983 rs539661395	1214	E>Q		No	ClinGen gnomAD
CA5663840 rs759556620	1217	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1396417787 CA377874372	1219	Q>L		No	ClinGen gnomAD
CA377877153 rs1433766278	1223	S>C		No	ClinGen TOPMed gnomAD
rs762010839 CA377877154	1224	L>M		No	ClinGen ExAC gnomAD
rs762010839 CA377877156	1224	L>V		No	ClinGen ExAC gnomAD
CA5663866 rs767796730	1225	R>C		No	ClinGen ExAC gnomAD
CA5663867 rs750471826	1225	R>H		No	ClinGen ExAC TOPMed gnomAD
CA377877212 rs767796730	1225	R>S		No	ClinGen ExAC gnomAD
rs373962255 CA5663869	1230	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs754400856 CA5663870	1231	K>R		No	ClinGen ExAC gnomAD
rs376923353 CA377877743	1233	S>G		No	ClinGen ESP ExAC gnomAD
CA5663872 rs376923353	1233	S>R		No	ClinGen ESP ExAC gnomAD
rs1044810761 CA212195844	1233	S>T		No	ClinGen gnomAD
CA5663873 rs748578259	1234	V>A		No	ClinGen ExAC gnomAD
rs1285754319 CA377877773	1234	V>M		No	ClinGen gnomAD
rs781027448 CA5663875	1236	S>F		No	ClinGen ExAC gnomAD
CA5663876 rs745345004	1237	R>*		No	ClinGen ExAC TOPMed gnomAD
CA5663878 rs769380716	1237	R>P		No	ClinGen ExAC gnomAD
CA5663877 rs769380716	1237	R>Q		No	ClinGen ExAC gnomAD
CA5663879 rs749264182	1238	V>I		No	ClinGen ExAC TOPMed gnomAD
CA377877884 rs1488855178	1239	S>R		No	ClinGen TOPMed gnomAD
rs1201637348 CA377878016	1241	Q>H		No	ClinGen gnomAD
rs370231074 CA5663880	1243	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1182683973 CA377878144	1244	Y>F		No	ClinGen gnomAD
rs1160379152 CA377878182	1245	G>W		No	ClinGen TOPMed
rs761638809 CA5663882	1246	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs767704985 CA5663883	1246	L>R		No	ClinGen ExAC gnomAD
rs1403574849 CA377878479	1252	T>A		No	ClinGen TOPMed
CA377878481 rs1403574849	1252	T>S		No	ClinGen TOPMed
CA5663885 rs146219589	1253	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5663887 rs754239943	1254	A>T		No	ClinGen ExAC gnomAD
rs1589824796 CA377878570	1255	A>S		No	ClinGen Ensembl
CA377878632 rs1565181792	1256	N>S		No	ClinGen Ensembl
CA5663888 rs539982671	1257	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377878702 rs1484186120	1258	H>Q		No	ClinGen Ensembl
CA377878688 rs1404844871	1258	H>R		No	ClinGen gnomAD
CA377878682 rs1261221982	1258	H>Y		No	ClinGen TOPMed
rs756757675 CA212195913	1259	S>P		No	ClinGen Ensembl
CA377878815 rs1280574033	1260	G>D		No	ClinGen gnomAD
rs767031530 CA5663890	1262	D>E		No	ClinGen ExAC TOPMed gnomAD
CA377878926 rs1265873461	1264	A>T		No	ClinGen TOPMed
rs1219961911 CA377878970	1264	A>V		No	ClinGen TOPMed
CA377879002 rs1264750397	1265	T>I		No	ClinGen gnomAD
CA377879019 rs1224881800	1266	L>H		No	ClinGen gnomAD
CA212195929 rs373713329	1267	F>L		No	ClinGen ESP TOPMed
rs1490186489 CA377879080	1268	T>R		No	ClinGen gnomAD
rs886689670 CA212195938	1271	E>*		No	ClinGen Ensembl
CA377879235 rs1259391965	1273	I>T		No	ClinGen Ensembl
rs139161408 CA5663896	1273	I>V		No	ClinGen ESP ExAC gnomAD
CA377879322 rs1446057357	1277	V>M		No	ClinGen gnomAD
rs1161171070 CA377879376	1279	P>S		No	ClinGen gnomAD
rs1424648910 CA377879497	1284	Q>K		No	ClinGen gnomAD
rs200015962 CA5663899	1286	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1356718401 CA377879658	1287	A>D		No	ClinGen gnomAD
rs1356718401 CA377879646	1287	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1440497304 CA377879676	1288	R>K		No	ClinGen gnomAD
rs1565182111 CA377879704	1289	A>E		No	ClinGen Ensembl
rs996320175 CA212195965	1291	A>G		No	ClinGen Ensembl
rs977999610 CA212195967	1293	D>E		No	ClinGen TOPMed
CA377879829 rs1279317581	1293	D>H		No	ClinGen gnomAD
rs771884371 CA5663900	1294	A>S		No	ClinGen ExAC TOPMed gnomAD
rs771884371 CA377879855	1294	A>T		No	ClinGen ExAC TOPMed gnomAD
CA377881644 rs1194749900	1295	G>E		No	ClinGen gnomAD
rs371954250 CA5663902	1295	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5663903 rs371954250	1295	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA5663922 rs776765339	1297	Q>K		No	ClinGen ExAC gnomAD
rs1174664728 CA377881879	1303	P>L		No	ClinGen gnomAD
CA377881872 rs1471180401	1303	P>S		No	ClinGen gnomAD
rs1471180401 CA377881865	1303	P>T		No	ClinGen gnomAD
CA377881922 rs1405685542	1304	S>F		No	ClinGen gnomAD
CA5663924 rs770002283	1305	Y>S		No	ClinGen ExAC gnomAD
CA5663925 rs776084524	1306	H>Q		No	ClinGen ExAC
rs1324747824 CA377881975	1306	H>R		No	ClinGen TOPMed gnomAD
CA5663928 rs751922343	1310	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5663929 rs762134491	1311	S>N		No	ClinGen ExAC TOPMed gnomAD
rs892558150 CA212196503	1312	L>P		No	ClinGen gnomAD
rs1229984313 CA377882155	1312	L>V		No	ClinGen TOPMed
rs1206514838 CA377882222	1314	R>*		No	ClinGen gnomAD
CA5663932 rs148702894	1314	R>Q		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs764992279 CA212196508	1317	T>N		No	ClinGen Ensembl
rs1010871695 CA212196513	1319	D>N		No	ClinGen Ensembl
CA5663934 rs752261751	1324	T>N		No	ClinGen ExAC gnomAD
rs769798041 CA212196533	1325	D>Y		No	ClinGen Ensembl
CA5663935 rs758350283	1326	H>R		No	ClinGen ExAC gnomAD
rs1206096812 CA377882717	1328	R>K		No	ClinGen Ensembl
rs777607714 CA5663936	1329	P>L		No	ClinGen ExAC TOPMed gnomAD
rs777607714 CA377882756	1329	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1377417194 CA377882745	1329	P>T		No	ClinGen gnomAD
CA5663938 rs770652231	1330	G>V		No	ClinGen ExAC TOPMed
rs781432534 CA5663939	1332	I>T		No	ClinGen ExAC TOPMed gnomAD
CA377882890 rs1382979382	1332	I>V		No	ClinGen gnomAD
rs746108755 CA377882913	1333	H>P		No	ClinGen ExAC gnomAD
rs746108755 CA5663940	1333	H>R		No	ClinGen ExAC gnomAD
rs1303784054 CA377882912	1333	H>Y		No	ClinGen gnomAD
CA212196604 rs1002150547	1334	R>*		No	ClinGen Ensembl
rs770201711 CA5663941	1334	R>P		No	ClinGen ExAC TOPMed gnomAD
CA377882975 rs770201711	1334	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA377883039 rs1336143950	1337	T>A		No	ClinGen gnomAD
CA377883073 rs1240842932	1339	A>T		No	ClinGen gnomAD
CA5663944 rs769184502	1340	D>N		No	ClinGen ExAC TOPMed gnomAD
rs762199211 CA5663946	1343	N>S		No	ClinGen ExAC gnomAD
rs768464998 CA212196640	1345	G>D		No	ClinGen Ensembl
CA377883364 rs1196780719	1345	G>S		No	ClinGen TOPMed
CA377883430 rs1565183505	1346	W>C		No	ClinGen Ensembl
rs145206051 CA5663947	1348	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1184212557 CA377883656	1351	K>E		No	ClinGen TOPMed
rs1481217925 CA377883679	1352	D>G		No	ClinGen gnomAD
rs1197976805 CA377883686	1353	D>N		No	ClinGen gnomAD
CA5663962 rs141610784	1354	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1184457126 CA377883734	1355	D>G		No	ClinGen gnomAD
rs768651356 CA5663963	1356	N>K		No	ClinGen ExAC gnomAD
rs912158018 CA212196840	1357	S>P		No	ClinGen Ensembl
rs113369150 CA5663965	1359	P>A		No	ClinGen ExAC gnomAD
rs113369150 CA212196858	1359	P>S		No	ClinGen ExAC gnomAD
rs1463436926 CA377883844	1361	P>L		No	ClinGen gnomAD
rs1565183842 CA377883853	1362	S>N		No	ClinGen Ensembl
CA5663967 rs773561102	1363	R>C		No	ClinGen ExAC TOPMed gnomAD
rs202195022 CA377883872	1363	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs202195022 CA5663968	1363	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5663969 rs764844336	1364	P>L		No	ClinGen ExAC gnomAD
CA377883905 rs1380069620	1366	P>L		No	ClinGen TOPMed gnomAD
rs763513442 CA5663972	1368	P>L		No	ClinGen ExAC gnomAD
CA377883912 rs1565183919	1368	P>S		No	ClinGen Ensembl
CA5663973 rs150404068	1369	L>V		No	ClinGen ESP ExAC
rs767607398 CA5663975	1373	Y>*		No	ClinGen ExAC gnomAD
rs1230244235 CA377883946	1373	Y>H		No	ClinGen TOPMed gnomAD
rs1230244235 CA377883944	1373	Y>N		No	ClinGen TOPMed gnomAD
CA377883956 rs1565184042	1374	S>I		No	ClinGen Ensembl
rs1565184058 CA377883966	1376	T>S		No	ClinGen Ensembl
CA5663976 rs201483112	1378	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1460135498 CA377883994	1381	L>M		No	ClinGen TOPMed gnomAD
rs780383557 CA5663978	1383	P>L		No	ClinGen ExAC
rs200567387 CA5663980	1385	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5663981 rs778843479	1386	T>A		No	ClinGen ExAC TOPMed gnomAD
CA212196973 rs1015467773	1386	T>I		No	ClinGen TOPMed gnomAD
CA377884027 rs778843479	1386	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1006084050 CA212196992	1387	K>E		No	ClinGen TOPMed
rs772537366 CA5663983	1389	L>P		No	ClinGen ExAC gnomAD
rs778301038 CA5663984	1393	V>M		No	ClinGen ExAC TOPMed gnomAD
rs149227083 CA5663985	1395	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1340403556 CA377884097	1397	S>A		No	ClinGen gnomAD
rs775054041 CA5663987	1398	F>C		No	ClinGen ExAC gnomAD
rs768424104 CA5663989	1399	I>L		No	ClinGen ExAC TOPMed gnomAD
CA377884121 rs2180707	1399	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA212197034 rs768424104	1399	I>V		No	ClinGen ExAC TOPMed gnomAD
CA377884128 rs1027929243	1400	V>L		No	ClinGen gnomAD
CA212197045 rs1027929243	1400	V>M		No	ClinGen gnomAD
CA5663991 rs761438996	1401	R>C		No	ClinGen ExAC TOPMed gnomAD
rs369057926 CA5663992	1401	R>H		No	ClinGen ExAC TOPMed gnomAD
CA377884187 rs1262413424	1404	A>T		No	ClinGen gnomAD
rs750417995 CA5663993	1404	A>V		No	ClinGen ExAC gnomAD
rs952998756 CA212197074	1408	P>S		No	ClinGen TOPMed
CA5663995 rs766292945	1409	D>N		No	ClinGen ExAC TOPMed gnomAD
rs572515175 CA5663996	1410	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1159386153 CA377884308	1411	F>L		No	ClinGen gnomAD
rs779235147 CA5663998	1415	V>I		No	ClinGen ExAC TOPMed gnomAD
rs376441827 CA5664000	1419	R>Q		No	ClinGen ESP ExAC gnomAD
CA377884502 rs778209114	1423	E>D		No	ClinGen ExAC TOPMed gnomAD
CA377884488 rs1285644118	1423	E>K		No	ClinGen gnomAD
CA377884527 rs1218934452	1425	S>G		No	ClinGen gnomAD
CA5664003 rs771226037	1426	L>P		No	ClinGen ExAC gnomAD
rs1565184580 CA377884559	1427	N>S		No	ClinGen Ensembl
CA212197134 rs12571835 COSM336316	1428	G>A	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA377884582 rs1403666102	1429	G>R		No	ClinGen TOPMed
rs1205012465 CA377884675	1430	C>Y		No	ClinGen gnomAD
rs11558771 CA212197274	1431	K>*		No	ClinGen Ensembl
rs1189950900 CA377884759	1435	K>R		No	ClinGen TOPMed
CA5664025 rs199931440	1436	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456938401 CA377884765	1436	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1456938401 CA377884767	1436	R>L		No	ClinGen TOPMed gnomAD
rs79933482 CA377884839	1441	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA212197294 rs1006550959	1443	D>E		No	ClinGen TOPMed gnomAD
rs1565184994 CA377884869	1443	D>Y		No	ClinGen Ensembl
rs369284898 CA5664028	1446	G>E		No	ClinGen ESP ExAC gnomAD
rs1307830290 CA377884929	1446	G>R		No	ClinGen TOPMed
rs1356628725 CA377884953	1447	N>S		No	ClinGen gnomAD
rs771910587 CA377884971	1448	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5664029 rs771910587	1448	R>G		No	ClinGen ExAC TOPMed gnomAD
CA212197314 rs898360276	1448	R>H		No	ClinGen TOPMed gnomAD
rs898360276 CA377884978	1448	R>L		No	ClinGen TOPMed gnomAD
CA5664032 rs746556731	1450	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA377885000 rs1374837642	1450	K>T		No	ClinGen TOPMed
rs1355642954 CA377885018	1452	K>I		No	ClinGen gnomAD
rs1274963579 CA377885025	1453	S>C		No	ClinGen gnomAD
rs751795997 CA212197337	1456	G>V		No	ClinGen Ensembl
rs137938245 CA5664033	1458	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA377885119 rs1197731902	1459	L>R		No	ClinGen gnomAD
CA5664034 rs776653458	1460	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1462360035 CA377885133	1461	R>G		No	ClinGen TOPMed gnomAD
CA377885135 rs1462360035	1461	R>W		No	ClinGen TOPMed gnomAD
rs759208033 CA5664035	1462	P>A		No	ClinGen ExAC gnomAD
rs765081649 CA377885152	1463	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775513718 CA5664037	1463	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1187619126 CA377885159	1464	T>N		No	ClinGen gnomAD
CA377885155 rs1589829760	1464	T>P		No	ClinGen Ensembl
CA377885168 rs1464413329	1466	S>G		No	ClinGen gnomAD
CA377885191 rs1170383958	1468	H>D		No	ClinGen gnomAD
rs997282828 CA377885194	1468	H>P		No	ClinGen TOPMed gnomAD
CA212197380 rs997282828	1468	H>R		No	ClinGen TOPMed gnomAD
rs757352828 CA5664042	1471	R>P		No	ClinGen ExAC TOPMed gnomAD
rs757352828 CA5664041	1471	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5664040 rs751619253	1471	R>W		No	ClinGen ExAC TOPMed gnomAD
rs750944426 CA5664043	1472	G>D		No	ClinGen ExAC TOPMed gnomAD
CA377885270 rs1263490634	1473	G>E		No	ClinGen gnomAD
CA377885263 rs1217833812	1473	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA212197403 rs966682018	1478	D>E		No	ClinGen Ensembl
rs1198356737 CA377885368	1478	D>V		No	ClinGen gnomAD
rs369379169 CA5664046 CA5664047	1479	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5664045 rs780454122	1479	E>K		No	ClinGen ExAC gnomAD
rs746468697 CA5664049	1481	E>*		No	ClinGen ExAC TOPMed gnomAD
rs746468697 CA212197423	1481	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5664050 rs770505691	1482	G>R		No	ClinGen ExAC gnomAD
CA5664052 rs373502588	1483	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs914175182 CA212197478	1484	P>H		No	ClinGen TOPMed
CA377885406 rs914175182	1484	P>R		No	ClinGen TOPMed
CA377885426 rs1171036930	1487	Y>C		No	ClinGen gnomAD
CA212197490 rs879157791	1489	T>M		No	ClinGen TOPMed gnomAD
CA5664056 rs762788990	1491	S>Y		No	ClinGen ExAC gnomAD
rs1283755537 CA377885463	1493	Q>*		No	ClinGen gnomAD
CA212197521 rs111931713	1494	V>F		No	ClinGen Ensembl
CA212197516 rs111931713	1494	V>L		No	ClinGen Ensembl
CA212197524 rs369030545	1496	Q>E		No	ClinGen ESP TOPMed gnomAD
CA212197536 rs924796094	1496	Q>R		No	ClinGen TOPMed
CA377886808 rs1181118197	1499	L>V		No	ClinGen TOPMed
rs1208474584 CA377886897	1503	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA377886889 rs1489743379	1503	H>Y		No	ClinGen gnomAD
rs1589836953 CA377886904	1504	T>P		No	ClinGen Ensembl
CA377886960 rs1180758541	1507	T>M		No	ClinGen gnomAD
rs749045556 CA5664073	1508	R>G		No	ClinGen ExAC TOPMed gnomAD
rs377665449 CA377886971	1508	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377665449 CA5664075	1508	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs749045556 CA5664074	1508	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762082921 CA5664076	1509	A>P		No	ClinGen ExAC gnomAD
CA212198903 rs918831759	1509	A>V		No	ClinGen Ensembl
rs1048525658 CA212198911	1511	S>C		No	ClinGen Ensembl
CA5664078 rs773313173	1512	I>M		No	ClinGen ExAC TOPMed gnomAD
rs772250967 CA5664077	1512	I>V		No	ClinGen ExAC gnomAD
rs1315283144 CA377887050	1514	S>G		No	ClinGen TOPMed
rs376273035 CA5664080	1515	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1328906273 CA377887081	1516	W>R		No	ClinGen gnomAD
rs756309824 CA5664081	1517	A>V		No	ClinGen ExAC TOPMed gnomAD
CA377887117 rs1316500378	1518	E>G		No	ClinGen gnomAD
CA5664082 rs368469834	1519	E>K		No	ClinGen ESP ExAC gnomAD
rs765706819 CA5664083	1521	R>C		No	ClinGen ExAC TOPMed gnomAD
CA377887164 rs1380564955	1521	R>L		No	ClinGen TOPMed
CA377887178 rs1589837202	1522	H>P		No	ClinGen Ensembl
rs753167428 CA5664084	1524	E>K		No	ClinGen ExAC gnomAD
CA377887250 rs1302846991	1527	G>S		No	ClinGen TOPMed
rs780759768 CA5664086	1528	Q>R		No	ClinGen ExAC gnomAD
rs1457458837 CA377887307	1530	I>M		No	ClinGen gnomAD
CA377887304 rs1256454889	1530	I>S		No	ClinGen gnomAD
CA5664088 rs755614985	1532	A>T		No	ClinGen ExAC gnomAD
rs1449597287 CA377887386	1535	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs779904047 CA5664089	1535	R>H		No	ClinGen ExAC gnomAD
rs779904047 CA377887404	1535	R>L		No	ClinGen ExAC gnomAD
rs779904047 CA377887402	1535	R>P		No	ClinGen ExAC gnomAD
CA377887421 rs1186753011	1536	T>N		No	ClinGen gnomAD
rs1373529093 CA377887463	1538	W>L		No	ClinGen TOPMed gnomAD
CA5664091 rs768642190	1539	A>T		No	ClinGen ExAC gnomAD
CA377887517 rs1168248426	1540	H>P		No	ClinGen gnomAD
CA5664092 rs778679012	1540	H>Q		No	ClinGen ExAC gnomAD
rs772312884 CA5664094	1545	L>S		No	ClinGen ExAC gnomAD
CA5664096 rs760765416	1547	Q>R		No	ClinGen ExAC gnomAD
rs765864424 CA5664106	1548	G>D		No	ClinGen ExAC gnomAD
rs1247641426 CA377887833	1550	A>V		No	ClinGen TOPMed
rs753416843 CA5664108	1554	C>Y		No	ClinGen ExAC gnomAD
CA5664110 rs371706477	1555	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs747926011 CA5664111	1556	A>V		No	ClinGen ExAC TOPMed gnomAD
rs553541471 CA5664114	1557	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs553541471 CA5664113	1557	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5664112 rs200951370	1557	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs771336251 CA5664115	1558	R>C		No	ClinGen ExAC TOPMed gnomAD
CA377888019 rs771336251	1558	R>S		No	ClinGen ExAC TOPMed gnomAD
CA212199028 rs1038415805	1560	V>I		No	ClinGen TOPMed
CA5664116 rs776846075	1561	R>G		No	ClinGen ExAC gnomAD
CA5664118 rs369641842	1561	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776846075 CA5664117	1561	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA377888121 rs1589837840	1562	M>T		No	ClinGen Ensembl
rs763312213 CA5664120	1566	T>N		No	ClinGen ExAC gnomAD
rs1436705094 CA377888219	1567	Y>C		No	ClinGen TOPMed gnomAD
CA5664121 rs764380007	1569	Q>P		No	ClinGen ExAC gnomAD
CA5664122 rs774841891	1570	R>*		No	ClinGen ExAC gnomAD
CA377888324 rs774841891	1570	R>G		No	ClinGen ExAC gnomAD
CA5664123 rs760320312	1571	A>G		No	ClinGen ExAC gnomAD
rs1167257028 CA377888346	1571	A>S		No	ClinGen TOPMed gnomAD
CA5664124 rs766062792	1575	H>R		No	ClinGen ExAC TOPMed gnomAD
rs753326875 CA5664125	1578	Q>R		No	ClinGen ExAC gnomAD
rs754503039 CA5664126	1579	K>E		No	ClinGen ExAC TOPMed gnomAD
CA5664127 rs765179396	1582	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1189327870 CA377888786	1584	E>D		No	ClinGen TOPMed
rs144633658 CA212199140	1585	W>*		No	ClinGen ESP
rs1417244845 CA377888865	1587	S>C		No	ClinGen gnomAD
rs1589837992 CA377888990	1590	N>I		No	ClinGen Ensembl
CA377889004 rs1296920387	1591	K>Q		No	ClinGen TOPMed gnomAD
CA5664147 rs762794493	1595	P>R		No	ClinGen ExAC gnomAD
rs1275992795 CA377890281	1601	L>W		No	ClinGen TOPMed
rs1337118498 CA377890295	1603	N>S		No	ClinGen TOPMed gnomAD
CA5664151 rs762351281	1604	I>L		No	ClinGen ExAC gnomAD
rs1473461882 CA377890339	1609	V>A		No	ClinGen gnomAD
CA212200232 rs980319615	1610	G>D		No	ClinGen TOPMed gnomAD
CA377890340 rs1273923749	1610	G>S		No	ClinGen gnomAD
rs756416628 CA5664153	1612	M>I		No	ClinGen ExAC gnomAD
CA5664155 rs147181246	1616	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5664154 rs145246489	1616	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs778583439 CA212200247	1617	M>I		No	ClinGen gnomAD
rs1407776654 CA377890401	1619	A>S		No	ClinGen TOPMed
CA5664157 rs779499760	1622	L>V		No	ClinGen ExAC gnomAD
rs1279849979 CA377890424	1623	L>F		No	ClinGen gnomAD
CA212200264 rs369050005	1623	L>H		No	ClinGen ESP TOPMed
rs369050005 CA377890426	1623	L>P		No	ClinGen ESP TOPMed
rs1589840312 CA377890550	1626	V>G		No	ClinGen Ensembl
rs1565190263 CA377890604	1630	H>D		No	ClinGen Ensembl
rs775230240 CA5664185	1630	H>Q		No	ClinGen ExAC gnomAD
rs1366182222 CA377890613	1630	H>R		No	ClinGen TOPMed
CA5664188 rs774064019	1636	S>*		No	ClinGen ExAC gnomAD
CA377890705 rs1273809260	1637	L>V		No	ClinGen gnomAD
rs773123613 CA5664191	1638	S>F		No	ClinGen ExAC gnomAD
CA5664190 rs767607313	1638	S>P		No	ClinGen ExAC gnomAD
CA377890765 rs1434720058	1641	A>S		No	ClinGen TOPMed
CA5664192 rs760543842	1641	A>V		No	ClinGen ExAC gnomAD
rs1565190374 CA377890843	1647	I>V		No	ClinGen Ensembl
rs1041802264 CA212200559	1648	L>S		No	ClinGen Ensembl
rs763384350 CA212200564	1651	M>V		No	ClinGen Ensembl
rs1160510947 CA377890981	1655	M>I		No	ClinGen gnomAD
rs1440426459 CA377890966	1655	M>L		No	ClinGen gnomAD
CA5664195 rs754952619	1656	H>N		No	ClinGen ExAC gnomAD
rs568068401 CA5664197	1657	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA377891040 rs1392621017	1658	G>A		No	ClinGen TOPMed gnomAD
CA5664198 rs371117105	1659	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA377891305 rs1463934974	1666	A>V		No	ClinGen Ensembl
CA377891520 rs1201086073	1674	M>I		No	ClinGen TOPMed gnomAD
CA5664216 rs764543711	1676	L>P		No	ClinGen ExAC
rs1339077298 CA377891626	1679	D>G		No	ClinGen Ensembl
rs1302438388 CA377891641	1681	A>T		No	ClinGen Ensembl
CA212200703 rs774611702	1681	A>V		No	ClinGen gnomAD
CA5664219 rs781618369	1682	E>*		No	ClinGen ExAC gnomAD
CA377891769 rs1469993493	1686	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5664220 rs746259597	1688	D>G		No	ClinGen ExAC gnomAD
rs552706182 CA212200731	1689	A>P		No	ClinGen TOPMed gnomAD
rs778734135 CA5664222	1690	R>Q		No	ClinGen ExAC gnomAD
CA5664221 rs754659512	1690	R>W		No	ClinGen ExAC TOPMed gnomAD
rs552483532 CA212200742	1692	G>D		No	ClinGen Ensembl
rs368027402 CA5664224	1692	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5664225 rs11191274 VAR_051926	1693	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5664228 rs776452222	1695	S>A		No	ClinGen ExAC TOPMed gnomAD
CA5664229 rs759374369	1695	S>L		No	ClinGen ExAC TOPMed gnomAD
CA5664231 rs775719059	1697	L>F		No	ClinGen ExAC gnomAD
CA377892019 rs1181423247	1697	L>P		No	ClinGen TOPMed
CA212200774 rs986470147	1702	W>*		No	ClinGen TOPMed
rs1257816652 CA377892133	1702	W>*		No	ClinGen TOPMed gnomAD
CA377892181 rs1482283229	1704	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5664233 rs200174310	1705	I>T		No	ClinGen ExAC gnomAD
rs1279675276 CA377892190	1705	I>V		No	ClinGen TOPMed
rs544550993 CA5664234	1706	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA5664236 rs767958584	1711	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs762350302 CA5664235	1711	H>Y		No	ClinGen ExAC gnomAD
CA377892382 rs372056196	1713	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs756581776 CA5664238	1713	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA377892400 rs1173584508	1714	D>N		No	ClinGen gnomAD
rs1361707601 CA377892434	1715	E>*	Variant assessed as Somatic; 4.634e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs758179538 CA5664241	1719	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1164204329 CA377892545	1720	T>P		No	ClinGen gnomAD
rs770875787 CA377892582	1721	V>A		No	ClinGen ExAC TOPMed gnomAD
rs770875787 CA5664244	1721	V>G		No	ClinGen ExAC TOPMed gnomAD
rs142268101 CA5664243	1721	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA377892612 rs1176382946	1722	I>M		No	ClinGen TOPMed
rs756397347 CA212200835	1723	Q>H		No	ClinGen Ensembl
rs1233599821 CA377892630	1723	Q>R		No	ClinGen gnomAD
CA377892847 rs779795660	1725	P>A		No	ClinGen ExAC
rs1037677292 CA377892854	1725	P>H		No	ClinGen TOPMed gnomAD
CA212201077 rs1037677292	1725	P>L		No	ClinGen TOPMed gnomAD
CA5664268 rs779795660	1725	P>S		No	ClinGen ExAC
CA377892884 rs1476404604	1726	M>I		No	ClinGen Ensembl
rs768875544 CA5664271	1728	M>L		No	ClinGen ExAC gnomAD
rs768875544 CA5664270	1728	M>V		No	ClinGen ExAC gnomAD
rs1565191799 CA377892995	1732	G>C		No	ClinGen Ensembl
CA5664272 rs140691714	1732	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA212201131 rs1047535189	1737	A>S		No	ClinGen TOPMed gnomAD
rs1047535189 CA377893104	1737	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1284979529 CA377893160	1740	H>Y		No	ClinGen TOPMed
rs777109884 CA5664278	1743	S>C		No	ClinGen ExAC gnomAD
rs777109884 CA377893225	1743	S>Y		No	ClinGen ExAC gnomAD
rs551452443 CA5664281	1744	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756732206 CA5664282	1744	A>V		No	ClinGen ExAC gnomAD
CA5664283 rs766921818	1746	G>D		No	ClinGen ExAC gnomAD
CA377893285 rs1278912621	1746	G>R		No	ClinGen gnomAD
CA377893328 rs1333807393	1747	D>E		No	ClinGen gnomAD
rs570713240 CA5664285	1747	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1302527960 CA377893343	1748	T>A		No	ClinGen TOPMed
CA377893346 rs201067456	1748	T>N		No	ClinGen ExAC gnomAD
rs201067456 CA5664286	1748	T>S		No	ClinGen ExAC gnomAD
rs749043366 CA377893363	1749	R>K		No	ClinGen ExAC TOPMed gnomAD
rs749043366 CA5664287	1749	R>T		No	ClinGen ExAC TOPMed gnomAD
rs372369241 CA5664288	1750	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5664290 rs201007711	1755	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377893530 rs201007711	1755	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA212201229 rs538008666	1755	P>S		No	ClinGen 1000Genomes
rs1364894637 CA377893538	1756	P>S		No	ClinGen TOPMed
rs747132927 CA5664293	1757	P>A		No	ClinGen ExAC gnomAD
CA5664294 rs771513740	1757	P>L		No	ClinGen ExAC gnomAD
rs777308112 CA5664295	1760	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs769158248 CA5664296	1765	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5664297 rs765533666	1765	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5664319 rs149068621	1767	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs765862977 CA5664320	1769	E>K		No	ClinGen ExAC gnomAD
rs1275007641 CA377894569	1771	P>R		No	ClinGen gnomAD
rs528679712 CA5664322	1772	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA377894602 rs1260976048	1773	S>N		No	ClinGen TOPMed
rs1041999630 CA212201796	1773	S>R		No	ClinGen TOPMed gnomAD
rs765265269 CA5664323	1775	R>*		No	ClinGen ExAC gnomAD
rs572360401 CA5664324	1775	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5664326 rs778073615	1777	A>T		No	ClinGen ExAC TOPMed gnomAD
rs551877513 CA5664327	1779	S>T		No	ClinGen ExAC TOPMed gnomAD
CA377894685 rs1455675204	1780	S>N		No	ClinGen gnomAD
CA5664328 rs757611125	1780	S>R		No	ClinGen ExAC gnomAD
rs1191793300 CA377894697	1781	S>P		No	ClinGen gnomAD
CA377894702 rs1394477211	1781	S>Y		No	ClinGen gnomAD
CA377894722 rs1420219319	1783	G>R		No	ClinGen gnomAD
CA5664329 rs781415855	1784	S>P		No	ClinGen ExAC gnomAD
rs746010745 CA5664330	1787	A>T		No	ClinGen ExAC TOPMed gnomAD
rs770151533 CA5664332	1790	P>S		No	ClinGen ExAC gnomAD
CA377894895 rs1438135708	1794	S>R		No	ClinGen gnomAD
rs749549726 CA5664334	1794	S>T		No	ClinGen ExAC TOPMed gnomAD
CA212201882 rs950839577	1795	P>S		No	ClinGen Ensembl
CA5664335 rs769024517	1796	T>A		No	ClinGen ExAC gnomAD
CA212201887 rs769024517	1796	T>P		No	ClinGen ExAC gnomAD
rs200375445 CA212201897	1797	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5664336 rs200375445	1797	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377894927 rs1395404370	1797	P>S		No	ClinGen TOPMed gnomAD
rs148213142 CA5664339	1798	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5664338 rs770614924	1798	D>N		No	ClinGen ExAC gnomAD
rs765042342 CA5664341	1799	G>R		No	ClinGen ExAC TOPMed gnomAD
rs752682007 CA5664342	1800	P>L		No	ClinGen ExAC gnomAD
rs963312756 CA212201909	1801	P>L		No	ClinGen Ensembl
rs762778249 CA212201922	1802	P>A		No	ClinGen ExAC TOPMed gnomAD
CA377895002 rs1211965905	1802	P>L		No	ClinGen gnomAD
rs762778249 CA5664343	1802	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1018955269 CA212201938	1803	L>M		No	ClinGen TOPMed
rs1461651426 CA377895087	1808	L>P		No	ClinGen TOPMed
rs1461651426 CA377895089	1808	L>R		No	ClinGen TOPMed
CA5664345 rs751466920	1811	Q>*		No	ClinGen ExAC gnomAD
rs757521165 CA5664346	1812	P>A		No	ClinGen ExAC gnomAD
rs757521165 CA377895138	1812	P>S		No	ClinGen ExAC gnomAD
CA212201965 rs202224054	1813	L>F		No	ClinGen 1000Genomes
rs1163593901 CA377895165	1814	A>T		No	ClinGen gnomAD
CA377895213 rs1459558103	1817	L>P		No	ClinGen gnomAD
rs750430991 CA5664348	1819	V>A		No	ClinGen ExAC gnomAD
rs749785670 CA5664351	1821	V>M		No	ClinGen ExAC gnomAD
rs987309699 CA5664353	1825	T>A		No	ClinGen TOPMed gnomAD
rs1337334443 CA377895290	1827	P>S		No	ClinGen gnomAD
rs376953826 CA212202025	1831	N>H		No	ClinGen ESP TOPMed
rs748556951 CA5664356	1832	P>A		No	ClinGen ExAC gnomAD
CA5664357 rs770517190	1833	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1453819498 CA377895333	1834	L>F		No	ClinGen TOPMed
CA377895336 rs1437161376	1834	L>P		No	ClinGen gnomAD
rs769358166 CA5664360	1835	I>L		No	ClinGen ExAC TOPMed gnomAD
rs377647711 CA5664361	1836	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs377647711 CA377895344	1836	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA377895351 rs1400592323	1837	A>T		No	ClinGen TOPMed
rs764166299 CA5664363	1838	T>I		No	ClinGen ExAC gnomAD
CA5664365 rs761732254	1844	L>V		No	ClinGen ExAC gnomAD
CA5664366 rs767571377	1845	A>P		No	ClinGen ExAC gnomAD
rs143730567 CA5664367	1846	T>I		No	ClinGen ESP ExAC gnomAD
CA377895408 rs1565194073	1847	P>S		No	ClinGen Ensembl
rs773641028 CA5664369	1848	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5664370 rs150665720	1848	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150665720 CA377895415	1848	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA212202136 rs947758472	1849	P>L		No	ClinGen Ensembl
CA377895431 rs1249701323	1851	D>V		No	ClinGen gnomAD
rs573776166 CA5664372	1852	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA377895446 rs1259461337	1853	I>M		No	ClinGen gnomAD
CA5664375 rs758792598	1857	E>A		No	ClinGen ExAC gnomAD
CA5664376 rs780647793	1858	V>D		No	ClinGen ExAC
rs769397523 CA5664378	1859	N>S		No	ClinGen ExAC gnomAD

No associated diseases with Q92538

2 regional properties for Q92538

Type	Name	Position	InterPro Accession
repeat	Leucine-rich repeat	551 - 572	IPR001611
domain	NB-ARC	150 - 388	IPR002182

Functions

		Description
EC Number
Subcellular Localization	Golgi apparatus, cis-Golgi network Endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus, trans-Golgi network Golgi apparatus Cytoplasm Lipid droplet Membrane; Peripheral membrane protein	Cycles rapidly on and off early Golgi membranes (PubMed:15616190) Stabilized on membranes when complexed with ARF1-GDP and is released from both ARF1 and membranes after it catalyzes GDP displacement and ARF1 binds GTP Continuous cycles of recruitment and dissociation of GBF1 to membranes are required for sustained ARF activation and COP I recruitment (PubMed:15813748) In neutrophils is translocated from the Golgi to the leading edge upon GPCR stimulation (PubMed:22573891) Localization to lipid droplets is questionable (PubMed:22185782)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
cell leading edge	The area of a motile cell closest to the direction of movement.
cis-Golgi network	The network of interconnected tubular and cisternal structures located at the convex side of the Golgi apparatus, which abuts the endoplasmic reticulum.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum-Golgi intermediate compartment	A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
lipid droplet	An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
trans-Golgi network	The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

3 GO annotations of molecular function

Name	Definition
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
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.
phosphatidylinositol-3,5-bisphosphate binding	Binding to phosphatidylinositol-3,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' and 5' positions.

22 GO annotations of biological process

Name	Definition
cell activation involved in immune response	A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response.
cellular response to virus	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 stimulus from a virus.
cilium assembly	The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
COPI coating of Golgi vesicle	The addition of COPI proteins and adaptor proteins to Golgi membranes during the formation of transport vesicles, forming a vesicle coat.
endoplasmic reticulum to Golgi vesicle-mediated transport	The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi.
endoplasmic reticulum-Golgi intermediate compartment organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum (ER)-Golgi intermediate compartment.
establishment of monopolar cell polarity	The specification and formation of monopolar intracellular organization or cell growth patterns. Monopolar cell organization is directional organization along an axis.
Golgi disassembly	A cellular process that results in the breakdown of a Golgi apparatus that contributes to Golgi inheritance.
Golgi organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
Golgi to endosome transport	The directed movement of substances from the Golgi to early sorting endosomes. Clathrin vesicles transport substances from the trans-Golgi to endosomes.
neutrophil chemotaxis	The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding.
post-Golgi vesicle-mediated transport	The directed movement of substances from the Golgi to other parts of the cell, including organelles and the plasma membrane, mediated by small transport vesicles.
protein localization to endoplasmic reticulum exit site	A process in which a protein is transported to, or maintained in, a location at an endoplasmic reticulum exit site.
protein localization to endoplasmic reticulum tubular network	A process in which a protein is transported to, or maintained in, a location within an endoplasmic reticulum tubular network.
protein localization to Golgi apparatus	A process in which a protein is transported to, or maintained in, a location within the Golgi apparatus.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
reactive oxygen species biosynthetic process	The chemical reactions and pathways resulting in the formation of reactive oxygen species, any molecules or ions formed by the incomplete one-electron reduction of oxygen.
regulation of ARF protein signal transduction	Any process that modulates the frequency, rate or extent of ARF protein signal transduction.
regulation of mitotic cell cycle	Any process that modulates the rate or extent of progress through the mitotic cell cycle.
regulation of protein localization to cell surface	Any process that modulates the frequency, rate or extent of protein localization to the cell surface.
retrograde transport, endosome to Golgi	The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport.
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	The directed movement of substances from the Golgi back to the endoplasmic reticulum, mediated by vesicles bearing specific protein coats such as COPI or COG.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9Y6D5	ARFGEF2	Brefeldin A-inhibited guanine nucleotide-exchange protein 2	Homo sapiens (Human)	PR
Q9Y6D6	ARFGEF1	Brefeldin A-inhibited guanine nucleotide-exchange protein 1	Homo sapiens (Human)	PR
Q5JU85	IQSEC2	IQ motif and SEC7 domain-containing protein 2	Homo sapiens (Human)	EV
Q9UPP2	IQSEC3	IQ motif and SEC7 domain-containing protein 3	Homo sapiens (Human)	SS
Q6DN90	IQSEC1	IQ motif and SEC7 domain-containing protein 1	Homo sapiens (Human)	EV
Q99418	CYTH2	Cytohesin-2	Homo sapiens (Human)	SS
Q9UIA0	CYTH4	Cytohesin-4	Homo sapiens (Human)	SS
O43739	CYTH3	Cytohesin-3	Homo sapiens (Human)	EV
Q15438	CYTH1	Cytohesin-1	Homo sapiens (Human)	SS

10	20	30	40	50	60
MVDKNIYIIQ	GEINIVVGAI	KRNARWSTHT	PLDEERDPLL	HSFGHLKEVL	NSITELSEIE
70	80	90	100	110	120
PNVFLRPFLE	VIRSEDTTGP	ITGLALTSVN	KFLSYALIDP	THEGTAEGME	NMADAVTHAR
130	140	150	160	170	180
FVGTDPASDE	VVLMKILQVL	RTLLLTPVGA	HLTNESVCEI	MQSCFRICFE	MRLSELLRKS
190	200	210	220	230	240
AEHTLVDMVQ	LLFTRLPQFK	EEPKNYVGTN	MKKLKMRAGG	MSDSSKWKKQ	KRSPRPPRHM
250	260	270	280	290	300
TKVTPGSELP	TPNGTTLSSN	LTGGMPFIDV	PTPISSASSE	AASAVVSPST	DSGLEFSSQT
310	320	330	340	350	360
TSKEDLTDLE	QPGSPGYSTA	TEPGSSELGV	PEQPDLQEGT	HVEKSQSASV	ESIPEVLEEC
370	380	390	400	410	420
TSPADHSDSA	SVHDMDYVNP	RGVRFTQSSQ	KEGTALVPYG	LPCIRELFRF	LISLTNPHDR
430	440	450	460	470	480
HNSEVMIHMG	LHLLTVALES	APVAQCQTLL	GLIKDEMCRH	LFQLLSIERL	NLYAASLRVC
490	500	510	520	530	540
FLLFESMREH	LKFQMEMYIK	KLMEIITVEN	PKMPYEMKEM	ALEAIVQLWR	IPSFVTELYI
550	560	570	580	590	600
NYDCDYYCSN	LFEELTKLLS	KNAFPVSGQL	YTTHLLSLDA	LLTVIDSTEA	HCQAKVLNSL
610	620	630	640	650	660
TQQEKKETAR	PSCEIVDGTR	EASNTERTAS	DGKAVGMASD	IPGLHLPGGG	RLPPEHGKSG
670	680	690	700	710	720
CSDLEEAVDS	GADKKFARKP	PRFSCLLPDP	RELIEIKNKK	KLLITGTEQF	NQKPKKGIQF
730	740	750	760	770	780
LQEKGLLTIP	MDNTEVAQWL	RENPRLDKKM	IGEFVSDRKN	IDLLESFVST	FSFQGLRLDE
790	800	810	820	830	840
ALRLYLEAFR	LPGEAPVIQR	LLEAFTERWM	NCNGSPFANS	DACFSLAYAV	IMLNTDQHNH
850	860	870	880	890	900
NVRKQNAPMT	LEEFRKNLKG	VNGGKDFEQD	ILEDMYHAIK	NEEIVMPEEQ	TGLVRENYVW
910	920	930	940	950	960
NVLLHRGATP	EGIFLRVPTA	SYDLDLFTMT	WGPTIAALSY	VFDKSLEETI	IQKAISGFRK
970	980	990	1000	1010	1020
CAMISAHYGL	SDVFDNLIIS	LCKFTALSSE	SIENLPSVFG	SNPKAHIAAK	TVFHLAHRHG
1030	1040	1050	1060	1070	1080
DILREGWKNI	MEAMLQLFRA	QLLPKAMIEV	EDFVDPNGKI	SLQREETPSN	RGESTVLSFV
1090	1100	1110	1120	1130	1140
SWLTLSGPEQ	SSVRGPSTEN	QEAKRVALEC	IKQCDPEKMI	TESKFLQLES	LQELMKALVS
1150	1160	1170	1180	1190	1200
VTPDEETYDE	EDAAFCLEML	LRIVLENRDR	VGCVWQTVRD	HLYHLCVQAQ	DFCFLVERAV
1210	1220	1230	1240	1250	1260
VGLLRLAIRL	LRREEISAQV	LLSLRILLLM	KPSVLSRVSH	QVAYGLHELL	KTNAANIHSG
1270	1280	1290	1300	1310	1320
DDWATLFTLL	ECIGSGVKPP	AALQATARAD	APDAGAQSDS	ELPSYHQNDV	SLDRGYTSDS
1330	1340	1350	1360	1370	1380
EVYTDHGRPG	KIHRSATDAD	VVNSGWLVVG	KDDVDNSKPG	PSRPGPSPLI	NQYSLTVGLD
1390	1400	1410	1420	1430	1440
LGPHDTKSLL	KCVESLSFIV	RDAAHITPDN	FELCVKTLRI	FVEASLNGGC	KSQEKRGKSH
1450	1460	1470	1480	1490	1500
KYDSKGNRFK	KKSKEGSMLR	RPRTSSQHAS	RGGQSDDDED	EGVPASYHTV	SLQVSQDLLD
1510	1520	1530	1540	1550	1560
LMHTLHTRAA	SIYSSWAEEQ	RHLETGGQKI	EADSRTLWAH	CWCPLLQGIA	CLCCDARRQV
1570	1580	1590	1600	1610	1620
RMQALTYLQR	ALLVHDLQKL	DALEWESCFN	KVLFPLLTKL	LENISPADVG	GMEETRMRAS
1630	1640	1650	1660	1670	1680
TLLSKVFLQH	LSPLLSLSTF	AALWLTILDF	MDKYMHAGSS	DLLSEAIPES	LKNMLLVMDT
1690	1700	1710	1720	1730	1740
AEIFHSADAR	GGGPSALWEI	TWERIDCFLP	HLRDELFKQT	VIQDPMPMEP	QGQKPLASAH
1750	1760	1770	1780	1790	1800
LTSAAGDTRT	PGHPPPPEIP	SELGACDFEK	PESPRAASSS	SPGSPVASSP	SRLSPTPDGP
1810	1820	1830	1840	1850
PPLAQPPLIL	QPLASPLQVG	VPPMTLPIIL	NPALIEATSP	VPLLATPRPT	DPIPTSEVN