AiPD: Autoinhibited Protein Database

Q7Z3J2

Gene name	VPS35L
Protein name	VPS35 endosomal protein-sorting factor-like
Names	Esophageal cancer-associated protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57020
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

11-194 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

11-194 (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

5 structures for Q7Z3J2

Entry ID	Method	Resolution	Chain	Position	Source
8ESE	X-ray	135 A	X	16-38	PDB
8SYM	EM	320 A	A	1-963	PDB
8SYN	EM	294 A	A	1-963	PDB
8SYO	EM	294 A	A	1-963	PDB
AF-Q7Z3J2-F1	Predicted				AlphaFoldDB

692 variants for Q7Z3J2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1972596669 RCV001271087	277	C>missing	Ritscher-Schinzel syndrome 3 [ClinVar]	Yes	ClinVar dbSNP
RCV001271086 VAR_085197 rs747119819 CA394959265	830	A>T	Variant assessed as Somatic; impact. Ritscher-Schinzel syndrome 3 RTSC3; does not interact with VPS29 [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs764633066 CA7935902	2	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7935906 rs367897965	3	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA394959703 TCGA novel rs1211718914	4	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA7935909 rs747073011	5	P>A		No	ClinGen ExAC TOPMed gnomAD
CA394959715 rs1445215097	5	P>L		No	ClinGen TOPMed
rs936227605 CA278795769	6	W>R		No	ClinGen TOPMed
CA394934037 rs1412002740	8	S>P		No	ClinGen gnomAD
CA394934095 rs1171296636	9	R>K		No	ClinGen gnomAD
rs753813652 CA7935930	10	N>K		No	ClinGen ExAC gnomAD
rs1343191778 CA394934128	10	N>S		No	ClinGen TOPMed
CA394934185 rs1360173163	12	N>S		No	ClinGen gnomAD
CA394934315 rs1414819863	15	A>V		No	ClinGen gnomAD
CA394934408 rs1465827134	18	A>V		No	ClinGen gnomAD
CA7935931 rs757124401	21	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778699468 CA7935932	21	R>L		No	ClinGen ExAC TOPMed gnomAD
rs778699468 CA7935933	21	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771763824 CA7935934	25	V>A		No	ClinGen ExAC gnomAD
rs751533830 CA7935937	29	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1018659631 CA278751740	29	F>V		No	ClinGen Ensembl
CA7935939 rs762433487	31	D>E		No	ClinGen ExAC gnomAD
CA7935938 rs775946795	31	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
VAR_037230 CA278751757 rs17854969	32	Y>C		No	ClinGen UniProt Ensembl dbSNP
CA7935940 rs770385859	33	H>P		No	ClinGen ExAC TOPMed gnomAD
CA394934724 rs770385859	33	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA394934769 rs1193014452	34	P>L		No	ClinGen gnomAD
rs1193014452 CA394934765	34	P>R		No	ClinGen gnomAD
CA394934814 rs1278889789	37	P>S		No	ClinGen TOPMed gnomAD
rs773753882 CA7935941	38	I>V		No	ClinGen ExAC TOPMed gnomAD
CA278753580 rs919102879	42	E>G		No	ClinGen TOPMed
CA394936785 rs1597310375	44	K>N		No	ClinGen Ensembl
TCGA novel	44	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7935976 rs747715306	44	K>T		No	ClinGen ExAC gnomAD
rs755678441 CA7935977	46	K>*		No	ClinGen ExAC
rs1423230726 CA394936805	46	K>T		No	ClinGen TOPMed
CA278753589 rs938489146	47	K>T		No	ClinGen TOPMed gnomAD
CA7935980 rs749822818	48	V>L		No	ClinGen ExAC gnomAD
CA7935979 rs749822818	48	V>M		No	ClinGen ExAC gnomAD
CA7935982 rs746186181	50	R>Q		No	ClinGen ExAC gnomAD
CA7935981 rs774809331	50	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1244001861 CA394936935	54	T>A		No	ClinGen TOPMed
CA7935983 rs772383799	55	S>T		No	ClinGen ExAC gnomAD
rs1057422420 CA278753615	56	S>P		No	ClinGen TOPMed gnomAD
CA394936963 rs1336072941	57	T>M		No	ClinGen TOPMed gnomAD
CA394936999 rs1247688041	63	S>N		No	ClinGen gnomAD
CA7935988 rs764172168	64	S>F		No	ClinGen ExAC TOPMed gnomAD
CA394937008 rs766144664	65	V>L		No	ClinGen ExAC gnomAD
CA7935991 rs766144664	65	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA394937017 rs1186641386	66	V>G		No	ClinGen gnomAD
rs1597310571 CA394937021	67	D>A		No	ClinGen Ensembl
CA7935993 rs554713753	68	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1567387198 CA394937032	69	L>V		No	ClinGen Ensembl
rs755766433 CA7935996	70	S>C		No	ClinGen ExAC gnomAD
rs1372283652 CA394937044	71	S>G		No	ClinGen gnomAD
CA7935998 rs748706506	72	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7935999 rs757822505	73	L>V		No	ClinGen ExAC gnomAD
CA7936001 rs746313792	74	D>N		No	ClinGen ExAC TOPMed gnomAD
CA278753653 rs938526744	75	G>R		No	ClinGen gnomAD
TCGA novel	75	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394937070 rs938526744	75	G>W		No	ClinGen gnomAD
rs1398305707 CA394937082	76	T>I		No	ClinGen gnomAD
CA394937089 rs1597310652	77	D>A		No	ClinGen Ensembl
rs1326159434 CA394937097	78	P>S		No	ClinGen gnomAD
CA394937112 rs1209766606	80	S>T		No	ClinGen gnomAD
rs747254310 CA7936004	84	A>V		No	ClinGen ExAC gnomAD
CA7936005 rs768830249	86	A>P		No	ClinGen ExAC gnomAD
rs1428854996 CA394937174	87	D>A		No	ClinGen gnomAD
CA394937176 rs1428854996	87	D>G		No	ClinGen gnomAD
rs1162711637 CA394937182	88	P>S		No	ClinGen TOPMed
rs370569405 CA7936008	89	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1385988072 CA394937192	89	A>V		No	ClinGen TOPMed
rs1452799898 CA394937199	90	A>G		No	ClinGen TOPMed gnomAD
rs1452799898 CA394937200	90	A>V		No	ClinGen TOPMed gnomAD
rs1440644280 CA394938739	96	D>E		No	ClinGen gnomAD
rs1345844148 CA394938732	96	D>G		No	ClinGen TOPMed
CA7936027 rs139739334	97	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs139739334 CA7936028	97	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA394938775 rs1221764557	98	S>F		No	ClinGen TOPMed gnomAD
CA7936029 rs143649089	98	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA394938763 rs143649089	98	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs570834372 CA7936030	102	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7936031 rs534959158	102	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs926517177 CA278755094	106	D>G		No	ClinGen TOPMed gnomAD
rs763894705 CA7936034	109	V>A		No	ClinGen ExAC gnomAD
rs147199562 CA278755095	109	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs147199562 CA7936033	109	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA394938893 rs1407535692	111	G>V		No	ClinGen gnomAD
rs370715531 CA7936036	112	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7936038 rs749909431	113	D>N		No	ClinGen ExAC gnomAD
CA7936039 rs758948904	115	E>G		No	ClinGen ExAC gnomAD
rs1438330323 CA394938925	116	P>R		No	ClinGen TOPMed gnomAD
rs780519985 CA7936040	117	W>*		No	ClinGen ExAC gnomAD
CA394938936 rs1461416861	118	T>A		No	ClinGen gnomAD
rs751981247 CA7936041	118	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7936042 rs373505689	119	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1297260771 CA394938960	120	K>E		No	ClinGen gnomAD
rs1350510828 CA394938970	120	K>I		No	ClinGen gnomAD
CA394938982 rs748328502	121	R>P		No	ClinGen ExAC TOPMed gnomAD
rs748328502 CA7936044	121	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs140487282 CA7936043	121	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7936045 rs756307949	122	G>E		No	ClinGen ExAC TOPMed gnomAD
rs375466958 CA7936046	125	L>F		No	ClinGen ESP ExAC gnomAD
CA278755138 rs1008986629	127	R>P		No	ClinGen TOPMed gnomAD
CA394939075 rs1008986629	127	R>Q		No	ClinGen TOPMed gnomAD
rs199767367 CA7936048	127	R>W		No	ClinGen ExAC TOPMed gnomAD
rs772184499 CA7936049	128	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA7936050 rs775554738	129	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA394939146 rs1180983930	130	T>A		No	ClinGen TOPMed
rs1184474193 CA394939168	131	T>A		No	ClinGen gnomAD
CA278755154 rs989162977	132	E>D		No	ClinGen gnomAD
CA7936052 rs144556424	132	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs932947259 CA278755159	135	S>P		No	ClinGen Ensembl
CA394940639 rs1453165254	137	N>S		No	ClinGen TOPMed
CA7936073 rs768597941	140	M>L		No	ClinGen ExAC gnomAD
CA7936074 rs776331654	141	G>R		No	ClinGen ExAC gnomAD
rs1484180810 CA394942578	145	G>D		No	ClinGen TOPMed gnomAD
CA7936076 rs769395184	145	G>R		No	ClinGen ExAC gnomAD
rs745436890 CA7936129	146	K>N		No	ClinGen ExAC TOPMed gnomAD
CA278758033 rs756057334	146	K>Q		No	ClinGen TOPMed gnomAD
CA7936130 rs771613779	147	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	148	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7936131 rs774803806	150	A>V		No	ClinGen ExAC gnomAD
CA394942742 rs1384523262	152	L>F		No	ClinGen TOPMed
CA394942758 rs1175425151	153	A>V		No	ClinGen gnomAD
rs1179274720 CA394942780	154	M>I		No	ClinGen gnomAD
CA7936134 rs777185457	154	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	156	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371462894 CA7936135	156	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1388285068 CA394942840	157	K>T		No	ClinGen gnomAD
CA7936136 rs765625438	158	V>L		No	ClinGen ExAC gnomAD
rs763030453 CA7936138	159	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7936137 rs750664367	159	R>W		No	ClinGen ExAC gnomAD
rs766499962 CA7936139	160	T>I		No	ClinGen ExAC TOPMed gnomAD
CA278758104 rs779887361	161	R>Q		No	ClinGen TOPMed gnomAD
rs949404609 CA278758103	161	R>W		No	ClinGen TOPMed
rs1046513680 CA278758105	163	E>G		No	ClinGen TOPMed gnomAD
CA394942985 rs1236724047	164	E>G		No	ClinGen gnomAD
rs1267452445 CA394943028	166	D>G		No	ClinGen gnomAD
rs1162995619 CA394943047	167	D>G		No	ClinGen TOPMed
rs1171783887 CA394943108	170	E>G		No	ClinGen TOPMed gnomAD
rs1171783887 CA394943111	170	E>V		No	ClinGen TOPMed gnomAD
rs1489480931 CA394945023	171	G>S		No	ClinGen TOPMed gnomAD
CA394945072 rs1180063304	172	S>C		No	ClinGen gnomAD
rs1251235578 CA394945137	174	K>R		No	ClinGen gnomAD
CA7936156 rs766477004	176	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA278759234 rs919021936	178	N>S		No	ClinGen gnomAD
rs984894396 CA278759243	183	D>H		No	ClinGen Ensembl
rs375711713 CA394945458	185	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375711713 CA7936159	185	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs7206637 CA278759247 VAR_037231	186	N>I		No	ClinGen UniProt Ensembl dbSNP
rs1351230190 CA394945513	186	N>K		No	ClinGen gnomAD
CA394945525 rs1427481009	187	R>C		No	ClinGen TOPMed gnomAD
rs1306861368 CA394945533	187	R>H		No	ClinGen TOPMed gnomAD
rs757126398 CA7936161	190	E>D		No	ClinGen ExAC gnomAD
CA7936162 rs765037634	191	L>F		No	ClinGen ExAC gnomAD
rs150962264 CA278759255	194	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs150962264 CA7936164	194	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1045344629 CA278759262	196	K>Q		No	ClinGen Ensembl
CA394945920 rs1274006052	201	S>L		No	ClinGen gnomAD
CA394945932 rs754543122	202	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	202	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394946022 rs1236266625	207	A>T		No	ClinGen gnomAD
CA278759274 rs926827762	209	K>I		No	ClinGen Ensembl
rs780796150 CA7936168	211	V>A		No	ClinGen ExAC
rs1370342369 CA394950915	216	K>E		No	ClinGen gnomAD
rs777269765 CA7936218	217	L>P		No	ClinGen ExAC TOPMed gnomAD
rs777269765 CA394950956	217	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1458448545 CA394950959	218	L>F		No	ClinGen gnomAD
CA7936219 rs200709240	221	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA278764396 rs918367966	222	S>I		No	ClinGen gnomAD
rs1252623777 CA394951070	222	S>R		No	ClinGen TOPMed gnomAD
TCGA novel	225	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749701376 CA278764404	229	S>N		No	ClinGen Ensembl
CA7936222 rs746210321	230	K>R		No	ClinGen ExAC gnomAD
CA7936225 rs747168492	235	T>A		No	ClinGen ExAC gnomAD
rs762833607 CA7936228	236	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7936229 rs770873864	237	I>V		No	ClinGen ExAC TOPMed gnomAD
rs774334067 CA7936230	238	L>F		No	ClinGen ExAC gnomAD
CA278764470 rs551468979	238	L>P		No	ClinGen Ensembl
CA7936231 rs759388720	239	D>E		No	ClinGen ExAC gnomAD
CA394951644 rs1294980676	240	T>I		No	ClinGen gnomAD
CA7936232 rs534656271	240	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1297098370 CA394954654	243	K>T		No	ClinGen gnomAD
CA394954693 rs1597348001	244	L>V		No	ClinGen Ensembl
CA394954748 rs774423993	246	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1256541871 CA394954757	247	E>K		No	ClinGen gnomAD
rs745730029 CA7936249	248	R>H		No	ClinGen ExAC gnomAD
CA7936250 rs772004595	251	S>C		No	ClinGen ExAC gnomAD
rs775374876 CA7936251	252	M>T		No	ClinGen ExAC gnomAD
rs1267318453 CA394954933	252	M>V		No	ClinGen gnomAD
CA7936252 rs760275271	253	C>R		No	ClinGen ExAC gnomAD
CA7936253 rs763770250	257	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7936254 rs776063425	257	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7936255 rs776063425	257	R>L		No	ClinGen ExAC TOPMed gnomAD
CA394955263 rs764662565 CA394955247	258	S>R		No	ClinGen ExAC TOPMed gnomAD
CA7936257 rs551723787	259	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1388455880 CA394955340	261	P>S		No	ClinGen gnomAD
rs751931237 CA7936279	264	F>S		No	ClinGen ExAC gnomAD
rs1006029866 CA278778271	264	F>V		No	ClinGen TOPMed
rs367846668 CA7936280	265	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA278778298 rs1011499880	266	P>A		No	ClinGen TOPMed gnomAD
rs140763117 CA7936281	267	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7936282 rs140763117	267	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7936284 rs778028900	269	A>S		No	ClinGen ExAC gnomAD
CA394957703 rs3208062	270	N>D		No	ClinGen gnomAD
CA394957709 rs1244418168	270	N>S		No	ClinGen gnomAD
CA394957740 rs1490865852	272	T>A		No	ClinGen gnomAD
rs3208064 CA278778353	272	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7936285 rs3208064	272	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA278778364 rs752615438	273	A>T		No	ClinGen Ensembl
CA7936287 rs780037763	274	K>Q		No	ClinGen ExAC gnomAD
CA7936288 rs746856456	275	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1422809750 CA394957829	285	A>T		No	ClinGen gnomAD
CA7936290 rs768511694	289	E>K		No	ClinGen ExAC gnomAD
rs780802972 CA7936291	290	L>V		No	ClinGen ExAC TOPMed gnomAD
CA394957879 rs1306913015	292	P>L		No	ClinGen gnomAD
CA394957888 rs1359698673	294	F>L		No	ClinGen TOPMed
rs1358315783 CA621241160	295	Y>*		No	ClinGen gnomAD
rs1019626842 CA278778853	296	V>M		No	ClinGen TOPMed gnomAD
rs941663813 CA278778861	297	E>A		No	ClinGen TOPMed gnomAD
CA394957927 rs146858083	298	A>S		No	ClinGen ESP ExAC gnomAD
CA7936312 rs146858083	298	A>T		No	ClinGen ESP ExAC gnomAD
rs1443938805 CA394957942	300	I>M		No	ClinGen TOPMed
CA7936314 rs772375233	300	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7936315 rs754833008	303	C>G		No	ClinGen ExAC gnomAD
rs1383379473 CA394957964	304	N>D		No	ClinGen TOPMed
rs747918715 CA7936317	304	N>S		No	ClinGen ExAC TOPMed gnomAD
rs549103764 CA7936319	309	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs140659275 CA7936320	310	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs368538814 CA7936346	314	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs371394198 CA7936347	314	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	314	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1180186592 CA394958492	316	L>R		No	ClinGen Ensembl
rs1178601579 CA394958486	316	L>V		No	ClinGen TOPMed
rs1365036798 CA394958502	317	P>L		No	ClinGen gnomAD
CA394958500 rs1365036798	317	P>R		No	ClinGen gnomAD
rs765357142 CA7936349	317	P>S		No	ClinGen ExAC gnomAD
rs199726251 CA7936351	318	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7936350 rs773402984	318	R>W		No	ClinGen ExAC TOPMed gnomAD
CA278780080 rs905538658	320	T>R		No	ClinGen TOPMed
rs1280560024 CA394958538	321	C>R		No	ClinGen gnomAD
rs1226327402 CA394958576	324	R>G		No	ClinGen gnomAD
CA394958586 rs1301740068	324	R>S		No	ClinGen gnomAD
rs927958511 CA278780088	327	G>R		No	ClinGen gnomAD
CA278780103 rs939381191	328	D>A		No	ClinGen gnomAD
CA394958635 rs1567420502	329	P>T		No	ClinGen Ensembl
CA278780115 rs988165271	330	L>V		No	ClinGen TOPMed gnomAD
rs372253776 CA7936358	332	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs757859268 CA7936360	335	A>V		No	ClinGen ExAC gnomAD
rs375259349 CA7936361	336	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425420300 CA394958736	336	R>H		No	ClinGen gnomAD
rs747551987 CA7936362	337	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	339	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766562519 CA394958821	341	R>G		No	ClinGen ExAC TOPMed gnomAD
CA394958829 rs372342574	341	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372342574 CA7936364	341	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766562519 CA7936363	341	R>W		No	ClinGen ExAC TOPMed gnomAD
rs200642096	347	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1375262931	349	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1342789088	355	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200808620	364	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs749175686	372	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	380	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	380	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	390	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751663302	393	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs928754011 CA278789796	409	A>G		No	ClinGen Ensembl
rs764213344 CA7936485	409	A>T		No	ClinGen ExAC gnomAD
CA7936488 rs779947944	412	T>S		No	ClinGen ExAC TOPMed gnomAD
rs754691203 CA7936490	413	E>K		No	ClinGen ExAC gnomAD
rs934852174 CA278789813	415	M>L		No	ClinGen gnomAD
rs934852174 CA394963020	415	M>V		No	ClinGen gnomAD
CA394963036 rs1279807575	417	R>G		No	ClinGen gnomAD
CA7936491 rs780826333	417	R>K		No	ClinGen ExAC gnomAD
rs780826333 CA394963039	417	R>M		No	ClinGen ExAC gnomAD
rs1597373530 CA394963045	418	C>Y		No	ClinGen Ensembl
rs769314468 CA7936493	419	K>E		No	ClinGen ExAC TOPMed gnomAD
CA394963085 rs1186511914	424	N>D		No	ClinGen TOPMed
TCGA novel	425	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394963115 rs1312317091	426	L>F		No	ClinGen TOPMed
TCGA novel	431	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746441101 CA278790493	432	M>I		No	ClinGen Ensembl
CA7936511 rs143145061	436	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780912488 CA7936510	436	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	438	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567436374 CA394963191	438	E>G		No	ClinGen Ensembl
CA394963187 rs1242561999	438	E>K		No	ClinGen gnomAD
CA278790504 rs775764923	439	F>V		No	ClinGen TOPMed
CA7936514 rs147480246	440	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs147513363 CA394963209	441	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147513363 CA7936516	441	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1402916739 CA394963219	443	R>G		No	ClinGen gnomAD
rs1467857193 CA394963221	443	R>K		No	ClinGen TOPMed gnomAD
CA278790524 rs904500774	444	S>T		No	ClinGen Ensembl
CA278790525 rs1004973880	445	M>V		No	ClinGen TOPMed
rs112450522 CA278790526	447	F>L		No	ClinGen Ensembl
rs747803384 CA7936517	448	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1406407995 CA394963267	450	M>V		No	ClinGen gnomAD
rs1024146632 CA278790529	451	I>M		No	ClinGen TOPMed gnomAD
rs1315680565 CA394963285	452	K>Q		No	ClinGen gnomAD
rs746321817 CA7936518	453	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7936519 rs150801332	454	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7936520 rs775959528	454	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA394963326 rs1321184382	455	D>H		No	ClinGen gnomAD
rs1221873509 CA394963403	461	K>R		No	ClinGen gnomAD
rs1032781974 CA278755108	464	L>R		No	ClinGen Ensembl
TCGA novel	464	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867148990 CA278755109	466	R>*		No	ClinGen TOPMed gnomAD
rs567680668 CA7936541	466	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394939170 rs1419742370	467	S>*		No	ClinGen gnomAD
CA394939165 rs1278197299	467	S>P		No	ClinGen gnomAD
rs200209817 CA278755112	468	L>Q		No	ClinGen TOPMed gnomAD
CA7936543 rs776730635	471	N>D		No	ClinGen ExAC gnomAD
rs376930432 CA7936544	471	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1235757506 CA394939314	476	D>N		No	ClinGen gnomAD
rs773243489 CA7936546	478	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1567437316 CA394939408	481	D>E		No	ClinGen Ensembl
rs774107773 CA278755125	482	R>*		No	ClinGen TOPMed gnomAD
CA7936547 rs79131945	482	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7936548 rs767425093	483	L>P		No	ClinGen ExAC gnomAD
rs752559765 CA7936549	484	Q>*		No	ClinGen ExAC gnomAD
CA7936550 rs760395771	485	I>V		No	ClinGen ExAC gnomAD
CA278755139 rs936975418	487	N>H		No	ClinGen TOPMed gnomAD
CA7936553 rs370460906	487	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs778328384 CA7936554	487	N>K		No	ClinGen ExAC gnomAD
CA7936552 rs370460906	487	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1206685849 CA394939520	488	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA394939529 rs1250566359	489	A>T		No	ClinGen gnomAD
TCGA novel	491	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7936555 rs770547092	492	V>I		No	ClinGen ExAC TOPMed gnomAD
CA394939643 rs1382862075	494	T>P		No	ClinGen gnomAD
CA7936558 rs149884417	498	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1351584165 CA394939770	499	P>L		No	ClinGen gnomAD
TCGA novel	502	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA278755539 rs546049404	503	I>V		No	ClinGen 1000Genomes
rs1333652340 CA394940036	505	C>W		No	ClinGen gnomAD
rs17854970 VAR_037232 CA278755542	506	A>V		No	ClinGen UniProt Ensembl dbSNP
CA394940072 rs1305023091	507	E>D		No	ClinGen TOPMed
rs764971165 CA7936586	507	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7936590 rs752143268	510	V>A		No	ClinGen ExAC gnomAD
CA7936589 rs370497822	510	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370497822 CA7936588	510	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA394940165 rs1567438418	513	T>S		No	ClinGen Ensembl
rs375230902 CA278755558	515	K>E		No	ClinGen ESP TOPMed gnomAD
CA394940210 rs1597376679	515	K>R		No	ClinGen Ensembl
CA7936591 rs755476589	516	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1338140815 CA394940243	517	F>V		No	ClinGen gnomAD
rs912278861 CA278755563	518	T>M		No	ClinGen TOPMed gnomAD
CA394940261 rs1567438449	518	T>S		No	ClinGen Ensembl
CA394941857 rs1211211460	520	R>*		No	ClinGen TOPMed
CA394941861 rs1477791169	520	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA278756915 rs987827600	521	E>G		No	ClinGen TOPMed gnomAD
CA278756930 rs759624038	522	V>G		No	ClinGen Ensembl
CA7936614 rs757440621	525	V>I		No	ClinGen ExAC TOPMed gnomAD
CA394942009 rs1311304668	528	D>G		No	ClinGen TOPMed
rs973431594 CA278756934	530	I>V		No	ClinGen TOPMed
CA7936615 rs779014329	532	H>P		No	ClinGen ExAC TOPMed gnomAD
rs779014329 CA394942072	532	H>R		No	ClinGen ExAC TOPMed gnomAD
rs368554083 CA7936617	533	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs745950100 CA7936616	533	M>V		No	ClinGen ExAC TOPMed gnomAD
CA7936619 rs776127420	534	T>I		No	ClinGen ExAC TOPMed gnomAD
rs776127420 CA7936618	534	T>S		No	ClinGen ExAC TOPMed gnomAD
CA7936620 rs769742683	536	D>E		No	ClinGen ExAC gnomAD
CA394942196 rs1436699678	537	R>C		No	ClinGen TOPMed gnomAD
CA7936621 rs139805019	537	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs770690088 CA7936623	540	E>V		No	ClinGen ExAC gnomAD
CA7936624 rs539221695	541	D>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	542	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759088279 CA7936625	543	Y>N		No	ClinGen ExAC gnomAD
CA7936626 rs143313550	544	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394942330 rs1325675604	544	P>S		No	ClinGen gnomAD
TCGA novel	545	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394942343 rs1182644220	545	Q>R		No	ClinGen TOPMed
rs1453624877 CA394943601	546	L>R		No	ClinGen TOPMed
CA7936650 rs764572301	547	Q>*		No	ClinGen ExAC gnomAD
rs754269775 CA7936651	549	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7936652 rs762170941	551	K>N		No	ClinGen ExAC gnomAD
CA394943725 rs1467459628	556	H>Y		No	ClinGen TOPMed
CA278759100 rs377529296	558	H>R		No	ClinGen ESP
CA394943757 rs1464735109	558	H>Y		No	ClinGen gnomAD
rs765468813 CA7936653	559	D>G		No	ClinGen ExAC gnomAD
rs750686809 CA7936654	561	S>T		No	ClinGen ExAC TOPMed gnomAD
rs758517616 CA7936655	562	V>I		No	ClinGen ExAC gnomAD
rs773427114 CA7936672	569	F>C		No	ClinGen ExAC gnomAD
TCGA novel	569	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7936671 rs374146026	569	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs773427114 CA7936673	569	F>S		No	ClinGen ExAC gnomAD
rs766501575 CA7936674	571	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	572	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1284479285 CA394944308	572	F>V		No	ClinGen gnomAD
rs1194845080 CA394944347	574	D>Y		No	ClinGen TOPMed gnomAD
CA7936678 rs753859631	575	M>T		No	ClinGen ExAC TOPMed gnomAD
CA394944355 rs1265807053	575	M>V		No	ClinGen gnomAD
CA394944449 rs1317639866	578	K>R		No	ClinGen TOPMed
CA7936681 rs745637106	579	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	579	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394944469 rs1359818642	579	E>V		No	ClinGen gnomAD
rs758137585 CA7936682	580	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1299748628 CA394944518	581	V>A		No	ClinGen gnomAD
rs1232374933 CA394944517	581	V>L		No	ClinGen gnomAD
rs144364706 CA394944533	582	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7936684 rs144364706	582	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7936683 rs779687445	582	R>W	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1235501319 CA394944623	587	K>R		No	ClinGen TOPMed gnomAD
CA7936685 rs768183901	588	C>R		No	ClinGen ExAC gnomAD
rs1353540314 CA394944664	589	I>L		No	ClinGen gnomAD
rs1422384803 CA394944704	591	D>N		No	ClinGen TOPMed
CA394944729 rs1288547923	592	A>T		No	ClinGen gnomAD
TCGA novel	597	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1165141846 CA394946440	598	Q>E		No	ClinGen gnomAD
rs754601372 CA7936703	601	T>I		No	ClinGen ExAC gnomAD
rs151122062 CA7936704	604	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7936707 rs557240840	606	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1403537109 CA394946683	607	L>M		No	ClinGen TOPMed
CA7936708 rs749752363	610	L>F		No	ClinGen ExAC gnomAD
rs749752363 CA394946741	610	L>V		No	ClinGen ExAC gnomAD
rs897570872 CA278761142	612	H>L		No	ClinGen TOPMed
rs897570872 CA394946800	612	H>R		No	ClinGen TOPMed
rs369150913 CA278761148	613	V>I		No	ClinGen ESP
rs867953073 CA278761153	617	M>R		No	ClinGen Ensembl
CA7936710 rs774828821	618	H>Q		No	ClinGen ExAC gnomAD
rs759890256 CA7936711	620	S>F		No	ClinGen ExAC TOPMed gnomAD
CA7936712 rs772414410	621	V>E		No	ClinGen ExAC
rs777294479 CA7936725	622	N>K		No	ClinGen ExAC TOPMed gnomAD
rs150266526 CA7936713	622	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA394947855 rs1453045413	624	L>F		No	ClinGen TOPMed
CA7936727 rs749801300	625	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1311068901 CA394947908	627	E>G		No	ClinGen gnomAD
rs771544834 CA7936728	628	D>A		No	ClinGen ExAC TOPMed gnomAD
CA278762070 rs200092938	629	E>K		No	ClinGen TOPMed gnomAD
CA278762097 rs1052380537	631	R>G		No	ClinGen Ensembl
CA7936731 rs746235591	631	R>I		No	ClinGen ExAC TOPMed gnomAD
CA7936732 rs138743623	632	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1478242830 CA394948047 COSM1609002	633	L>V	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7936733 rs535447833	634	S>*		No	ClinGen 1000Genomes ExAC gnomAD
rs765994578 CA278762109	634	S>T		No	ClinGen Ensembl
CA7936734 rs182792252	636	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1279261421 CA394948111	637	I>L		No	ClinGen TOPMed
CA7936736 rs776748196	639	G>V		No	ClinGen ExAC gnomAD
rs762934765 CA7936737	641	I>M		No	ClinGen ExAC gnomAD
TCGA novel	642	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394948303 rs1232010023	643	M>I		No	ClinGen TOPMed
CA7936760 rs759425490	644	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775335412 CA7936762	645	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7936761 rs767252970	645	S>P		No	ClinGen ExAC gnomAD
CA7936764 rs141537550	647	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373070886 CA7936765	648	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373070886 CA394949282	648	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756841199 CA7936766	648	R>H		No	ClinGen ExAC gnomAD
rs750999584 CA7936768	649	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1405550882 CA394949379	655	S>C		No	ClinGen gnomAD
rs879046021 CA278763706	655	S>N		No	ClinGen Ensembl
CA394949414 rs1390911479	657	Y>F		No	ClinGen TOPMed
CA7936769 rs758944543	659	E>D		No	ClinGen ExAC gnomAD
rs1183042833 CA394949439	659	E>V		No	ClinGen TOPMed
rs1276642373 CA394949453	660	S>F		No	ClinGen TOPMed gnomAD
rs780338929 CA7936770	662	S>L		No	ClinGen ExAC gnomAD
CA394949479 rs1331521733	663	M>V		No	ClinGen TOPMed gnomAD
CA7936772 rs755230447	665	C>R		No	ClinGen ExAC gnomAD
rs147063690 CA7936773	666	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs748317428 CA7936774	666	N>S		No	ClinGen ExAC TOPMed gnomAD
CA394949563 rs769889652	669	P>A		No	ClinGen ExAC TOPMed gnomAD
rs201717952 CA278763740	669	P>L		No	ClinGen TOPMed gnomAD
rs769889652 CA7936775	669	P>S		No	ClinGen ExAC TOPMed gnomAD
CA394949617 rs1198013085	673	Q>H		No	ClinGen gnomAD
CA7936779 rs772036555	676	H>R		No	ClinGen ExAC TOPMed gnomAD
rs745857160 CA7936778	676	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	689	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7936828 rs537660267	704	C>S		No	ClinGen ExAC TOPMed gnomAD
CA394951038 rs764394530	706	A>P		No	ClinGen ExAC TOPMed gnomAD
CA7936829 rs764394530	706	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7936830 rs754125313	706	A>V		No	ClinGen ExAC gnomAD
CA394951077 rs1161001102	707	Y>C		No	ClinGen gnomAD
CA7936831 rs757394375	708	C>S		No	ClinGen ExAC gnomAD
CA394951097 rs1456552992	709	F>V		No	ClinGen TOPMed gnomAD
CA278765409 rs144534439	710	I>V		No	ClinGen ESP TOPMed
rs7184272 CA7936833	712	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7936832 rs765410133	712	I>V		No	ClinGen ExAC gnomAD
CA394951179 rs1567457053	713	P>H		No	ClinGen Ensembl
CA7936834 rs758482660	716	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1393536554 CA394951203	716	A>T		No	ClinGen TOPMed gnomAD
rs758482660 CA7936835	716	A>V		No	ClinGen ExAC TOPMed gnomAD
rs544387448 CA7936837	717	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs544387448 CA394951226	717	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394951283 rs930929987	719	F>L		No	ClinGen TOPMed gnomAD
rs777680155 CA7936838	720	T>A		No	ClinGen ExAC gnomAD
rs200153962 CA7936839	721	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7936840 rs770474820	721	R>H		No	ClinGen ExAC TOPMed gnomAD
CA278765441 rs770474820	721	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7936842 rs141806447	723	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1256932037 CA394951377	724	L>F		No	ClinGen gnomAD
CA7936846 rs139837931	727	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7936845 rs139837931	727	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7936847 rs143122530	730	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs906315435 CA278765463	732	A>S		No	ClinGen TOPMed gnomAD
CA394951564 rs906315435	732	A>T		No	ClinGen TOPMed gnomAD
rs1168599151 CA394951681	736	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1354054611 CA394951725	737	C>Y		No	ClinGen gnomAD
rs1462592107 CA394951747	738	L>F		No	ClinGen gnomAD
CA7936851 rs533190713	741	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1362238723 CA394955397	746	K>E		No	ClinGen gnomAD
rs771602358 CA7936864	748	A>S		No	ClinGen ExAC gnomAD
rs771602358 CA7936863	748	A>T		No	ClinGen ExAC gnomAD
CA7936865 rs202109632	749	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs781713958 CA7936866	750	S>G		No	ClinGen ExAC TOPMed gnomAD
rs777122821 CA7936867	750	S>N		No	ClinGen ExAC TOPMed gnomAD
CA7936868 rs374979210	751	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA394955567 rs1241678103	752	V>L		No	ClinGen gnomAD
rs968866368 CA278771623	753	P>A		No	ClinGen TOPMed gnomAD
CA7936869 rs149898838	753	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394955623 rs968866368	753	P>S		No	ClinGen TOPMed gnomAD
CA7936871 rs763233007	755	V>I		No	ClinGen ExAC gnomAD
TCGA novel	757	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA278771707 CA278771701 rs976985723	758	M>I		No	ClinGen TOPMed
rs766615041 CA7936872	759	I>T		No	ClinGen ExAC gnomAD
CA394955809 rs1397450811	760	N>T		No	ClinGen gnomAD
CA394955831 rs1416714232	761	I>T		No	ClinGen TOPMed gnomAD
rs1294655039 CA394955866	763	G>R		No	ClinGen TOPMed
CA394955944 CA278771722 rs772933612	765	M>I		No	ClinGen TOPMed gnomAD
rs760760852 CA7936875	766	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA278771723 rs867130716	766	R>W		No	ClinGen TOPMed gnomAD
CA7936876 rs763941801	768	S>L		No	ClinGen ExAC gnomAD
rs757025573 CA7936878	770	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762761848 CA278771771	772	L>F		No	ClinGen Ensembl
rs750120754 CA7936880	773	L>V		No	ClinGen ExAC
CA278771782 rs908946876	777	C>Y		No	ClinGen Ensembl
CA278771787 rs912534064	779	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs779600815 CA7936882	780	F>S		No	ClinGen ExAC TOPMed gnomAD
CA394956783 rs1218260142	782	T>A		No	ClinGen gnomAD
rs942743188 CA278771788	783	L>V		No	ClinGen TOPMed
rs759507434 CA7936885	785	I>M		No	ClinGen ExAC TOPMed gnomAD
CA394956850 rs748644296	786	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7936886 rs748644296	786	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7936887 rs574948701	787	P>L		No	ClinGen ExAC gnomAD
CA394956867 rs574948701	787	P>R		No	ClinGen ExAC gnomAD
CA394956862 rs1255365249	787	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	790	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7936910 rs368862200	792	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA394958800 rs1440124584	794	V>I		No	ClinGen gnomAD
CA7936911 rs772085256	799	R>G		No	ClinGen ExAC TOPMed gnomAD
rs775621377 CA7936912	799	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7936913 rs761719426	801	L>R		No	ClinGen ExAC gnomAD
CA394958872 rs1371004663	803	N>D		No	ClinGen gnomAD
rs147028064 CA7936914	803	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147028064 CA7936915	803	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7936916 rs373111547	804	V>M		No	ClinGen ESP ExAC gnomAD
rs1421562908 CA394958922	807	D>H		No	ClinGen gnomAD
CA394958949 rs1381033299	808	Y>C		No	ClinGen TOPMed
rs1005091420 CA278779482	809	T>I		No	ClinGen TOPMed
CA7936918 rs751248795	810	W>R		No	ClinGen ExAC gnomAD
CA278779493 rs928520718	811	E>Q		No	ClinGen TOPMed
rs1375799321 CA394959019	813	N>D		No	ClinGen gnomAD
CA278779495 rs963603115	814	S>G		No	ClinGen Ensembl
CA278779496 rs1001442165	814	S>I		No	ClinGen TOPMed
rs142464486 CA7936920	815	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752246902 CA7936921	815	D>V		No	ClinGen ExAC gnomAD
CA7936922 rs370516328	819	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7936923 rs778437325	819	R>H		No	ClinGen ExAC gnomAD
CA278779542 rs150215473	820	I>M		No	ClinGen ESP
rs749765639 CA7936924	820	I>V		No	ClinGen ExAC gnomAD
CA394959146 rs1478047376	821	Y>C		No	ClinGen TOPMed
rs1280276939 CA394959153	822	T>A		No	ClinGen gnomAD
CA394959152 rs1280276939	822	T>P		No	ClinGen gnomAD
rs1448651322 CA394959190	824	V>A		No	ClinGen TOPMed
CA7936926 rs531081300	824	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531081300 CA394959182	824	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs967500400 CA278779584	826	H>R		No	ClinGen Ensembl
CA394959251 rs1193253039	829	S>A		No	ClinGen gnomAD
rs747119819 CA7936930	830	A>P		No	ClinGen ExAC TOPMed gnomAD
rs747119819 CA394959262	830	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7936931 rs768668578	831	M>V		No	ClinGen ExAC TOPMed gnomAD
CA7936932 rs773161859	832	S>N		No	ClinGen ExAC gnomAD
rs1436284769 CA394959315	833	Q>R		No	ClinGen gnomAD
rs192970606 CA7936934	835	T>M		No	ClinGen 1000Genomes ExAC gnomAD
CA7936933 rs762844205	835	T>S		No	ClinGen ExAC gnomAD
rs1597432368 CA394959402	839	H>Y		No	ClinGen Ensembl
CA278779604 rs899999671	840	I>M		No	ClinGen TOPMed
rs1328236312 CA394959425	840	I>T		No	ClinGen TOPMed gnomAD
rs759176989 CA7936936	841	D>E		No	ClinGen ExAC gnomAD
rs1438828008 CA394959434	841	D>G		No	ClinGen gnomAD
TCGA novel	843	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1164270968 CA394960149	843	V>A		No	ClinGen gnomAD
CA394960150 rs1164270968	843	V>G		No	ClinGen gnomAD
CA394959453 rs1349237416	843	V>M		No	ClinGen gnomAD
CA7936957 rs763746697	846	N>H		No	ClinGen ExAC TOPMed gnomAD
CA394960175 rs1597442369	847	D>A		No	ClinGen Ensembl
CA7936958 rs753385870	847	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1396420000 CA394960189	849	L>F		No	ClinGen gnomAD
rs1290665975 CA394960197	850	Y>C		No	ClinGen gnomAD
CA7936961 rs529462508	851	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA394960203 rs1567492656	851	G>V		No	ClinGen Ensembl
CA7936960 rs529462508	851	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7936963 rs138740165	852	G>A		No	ClinGen ESP ExAC TOPMed
CA7936964 rs138740165	852	G>E		No	ClinGen ESP ExAC TOPMed
rs1183404997 CA394960212	853	D>A		No	ClinGen TOPMed
CA394960209 rs1265194684	853	D>N		No	ClinGen gnomAD
CA394960226 rs1567492693	855	K>T		No	ClinGen Ensembl
CA7936966 rs751854721	856	F>L		No	ClinGen ExAC TOPMed gnomAD
rs755174966 CA7936967	857	L>P		No	ClinGen ExAC gnomAD
rs1480957167 CA394960242	858	A>T		No	ClinGen TOPMed gnomAD
rs748229939 CA7936969	858	A>V		No	ClinGen ExAC gnomAD
CA394960256 rs1316077141	860	N>D		No	ClinGen TOPMed
CA7936971 CA394960268 rs373593167	861	N>K		No	ClinGen ESP ExAC gnomAD
CA7936970 rs769807628	861	N>S		No	ClinGen ExAC TOPMed gnomAD
rs767894566	861	N>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1187439430 CA394960269	862	K>Q		No	ClinGen gnomAD
CA278785542 rs1012357738	863	L>M		No	ClinGen Ensembl
CA7936972 rs745751478	863	L>P		No	ClinGen ExAC gnomAD
CA394960286 rs1168510873	864	C>*		No	ClinGen gnomAD
rs368058652 CA7936973	864	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA394960287 rs1372999383	865	E>K		No	ClinGen gnomAD
CA394960296 rs1477642398	866	T>A		No	ClinGen gnomAD
CA7936974 rs141552703	866	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1597442589 CA394960300	867	V>M		No	ClinGen Ensembl
rs982360844 CA278785573	868	M>I		No	ClinGen TOPMed
rs776359572 CA7936978	869	A>S		No	ClinGen ExAC TOPMed gnomAD
CA278785574 rs776359572	869	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs955660825 CA278785588	870	Q>*		No	ClinGen TOPMed
CA278785578 rs955660825	870	Q>E		No	ClinGen TOPMed
rs761426241 CA7936979	870	Q>R		No	ClinGen ExAC gnomAD
rs1463747424 CA394960327	871	I>T		No	ClinGen TOPMed
CA7936980 rs764606900	872	L>V		No	ClinGen ExAC gnomAD
rs750976302 CA7936981	873	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	876	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293233927 CA394960389	880	K>*		No	ClinGen gnomAD
rs766822911 CA7936983	880	K>T		No	ClinGen ExAC
CA394960420 rs1485192699	882	E>D		No	ClinGen gnomAD
CA394960411 rs1278139223	882	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs34342607 CA7937010	883	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7937011 rs754855735	883	A>V		No	ClinGen ExAC gnomAD
rs1323380489 CA394949684	885	K>R		No	ClinGen gnomAD
CA7937012 rs377505002	886	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA278764125 rs866568029	886	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs747856441 CA7937013	888	S>G		No	ClinGen ExAC
rs1263409854 CA394949741	889	S>L		No	ClinGen TOPMed gnomAD
CA7937017 rs770424103	891	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA394949906 rs1271401117	898	I>N		No	ClinGen gnomAD
CA7937020 rs767918312	901	H>L		No	ClinGen ExAC gnomAD
CA394949990 rs1222896247	901	H>N		No	ClinGen gnomAD
rs775819135 CA7937021	902	G>A		No	ClinGen ExAC TOPMed gnomAD
rs150300279 CA7937022	905	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA278764172 rs200464246	905	R>H		No	ClinGen TOPMed
CA394950117 rs200464246	905	R>P		No	ClinGen TOPMed
CA7937024 rs764228537	907	N>K		No	ClinGen ExAC TOPMed gnomAD
rs760572158	907	N>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7937025 rs754037163	908	K>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1325380092 CA394950193	910	N>D		No	ClinGen gnomAD
rs1462455955 CA394950198	910	N>K		No	ClinGen TOPMed
CA394950207 rs1263552142	911	Q>H		No	ClinGen TOPMed
rs1352693861 CA394950211	912	L>H		No	ClinGen gnomAD
CA394950223 rs1230505409	914	V>A		No	ClinGen gnomAD
rs762878146 CA7937029	914	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7937030 rs781195621	915	N>S		No	ClinGen ExAC gnomAD
CA7937031 rs142584344	916	L>V		No	ClinGen ESP TOPMed gnomAD
CA7937033 rs752436522	918	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA7937034 rs755877113	920	A>E		No	ClinGen ExAC gnomAD
rs759623970 CA278764256	920	A>T		No	ClinGen gnomAD
CA394950262 rs1436639686	921	Q>E		No	ClinGen gnomAD
rs1204244409 CA394950265	921	Q>R		No	ClinGen TOPMed gnomAD
CA394950273 rs1484261466	922	R>K		No	ClinGen gnomAD
rs922750409 CA394950287	924	G>D		No	ClinGen TOPMed gnomAD
rs1416733828 CA394950284	924	G>S		No	ClinGen gnomAD
CA278764283 rs922750409	924	G>V		No	ClinGen TOPMed gnomAD
CA394950299 rs1164565579	926	A>S		No	ClinGen gnomAD
CA394950329 rs1451130929	930	T>I		No	ClinGen TOPMed
CA394950335 rs1417277483	931	M>I		No	ClinGen gnomAD
rs367816026 CA278764288	931	M>T		No	ClinGen ESP
CA7937063 rs375668427	934	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7937066 rs762003912	936	E>D		No	ClinGen ExAC
rs777035010 CA7937065	936	E>G		No	ClinGen ExAC gnomAD
CA278764802 rs61738005	937	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7937067 rs139882380	937	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs763144416 CA7937069	938	I>L		No	ClinGen ExAC gnomAD
CA7937070 rs189252663	939	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147961883 CA7937071	940	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760637895 CA7937072	942	S>R		No	ClinGen ExAC gnomAD
rs753663155 CA7937074	943	K>N		No	ClinGen ExAC TOPMed gnomAD
rs763852228 CA7937073	943	K>R		No	ClinGen ExAC gnomAD
CA7937075 rs756980890	947	M>V		No	ClinGen ExAC TOPMed gnomAD
CA7937076 rs764883481	949	H>Y		No	ClinGen ExAC gnomAD
CA7937078 rs757937591	951	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7937081 rs755500932	952	E>G		No	ClinGen ExAC gnomAD
CA7937080 rs747522933	952	E>K		No	ClinGen ExAC gnomAD
CA394951708 rs1269520145	953	L>V		No	ClinGen TOPMed gnomAD
CA394951750 rs1466776388	954	A>V		No	ClinGen gnomAD
rs781482371 CA7937082	959	L>M		No	ClinGen ExAC
rs369761590 CA7937083	960	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs770232382 CA7937084	961	T>K		No	ClinGen ExAC gnomAD
CA7937085 rs140163660	962	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1362267910 CA394952038	963	T>I		No	ClinGen gnomAD
TCGA novel	964	T>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

1 associated diseases with Q7Z3J2

[MIM: 619135]: Ritscher-Schinzel syndrome 3 (RTSC3)

A form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. RTSC3 is an autosomal recessive form. Affected individuals show cranio-cerebello-cardiac anomalies, coloboma, microphthalmia, chondrodysplasia punctata, complicated skeletal malformations, periventricular nodular heterotopia and proteinuria. {ECO:0000269|PubMed:31712251}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

A form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. RTSC3 is an autosomal recessive form. Affected individuals show cranio-cerebello-cardiac anomalies, coloboma, microphthalmia, chondrodysplasia punctata, complicated skeletal malformations, periventricular nodular heterotopia and proteinuria. {ECO:0000269|PubMed:31712251}. Note=The disease may be caused by variants affecting the gene represented in this entry.

No regional properties for Q7Z3J2

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q7Z3J2

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Single-pass membrane protein Endosome	Endosome location is dependent of the association with the CCC and WASH complexes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
endosome	A vacuole to which materials ingested by endocytosis are delivered.
ficolin-1-rich granule membrane	The lipid bilayer surrounding a ficolin-1-rich granule.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

3 GO annotations of biological process

Name	Definition
endocytic recycling	The directed movement of membrane-bounded vesicles from endosomes back to the plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins.
Golgi to plasma membrane transport	The directed movement of substances from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane, where they fuse and release their contents by exocytosis.
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.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BWQ6	Vps35l	VPS35 endosomal protein-sorting factor-like	Mus musculus (Mouse)	PR
Q5XI83	Vps35l	VPS35 endosomal protein-sorting factor-like	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAVFPWHSRN	RNYKAEFASC	RLEAVPLEFG	DYHPLKPITV	TESKTKKVNR	KGSTSSTSSS
70	80	90	100	110	120
SSSSVVDPLS	SVLDGTDPLS	MFAATADPAA	LAAAMDSSRR	KRDRDDNSVV	GSDFEPWTNK
130	140	150	160	170	180
RGEILARYTT	TEKLSINLFM	GSEKGKAGTA	TLAMSEKVRT	RLEELDDFEE	GSQKELLNLT
190	200	210	220	230	240
QQDYVNRIEE	LNQSLKDAWA	SDQKVKALKI	VIQCSKLLSD	TSVIQFYPSK	FVLITDILDT
250	260	270	280	290	300
FGKLVYERIF	SMCVDSRSVL	PDHFSPENAN	DTAKETCLNW	FFKIASIREL	IPRFYVEASI
310	320	330	340	350	360
LKCNKFLSKT	GISECLPRLT	CMIRGIGDPL	VSVYARAYLC	RVGMEVAPHL	KETLNKNFFD
370	380	390	400	410	420
FLLTFKQIHG	DTVQNQLVVQ	GVELPSYLPL	YPPAMDWIFQ	CISYHAPEAL	LTEMMERCKK
430	440	450	460	470	480
LGNNALLLNS	VMSAFRAEFI	ATRSMDFIGM	IKECDESGFP	KHLLFRSLGL	NLALADPPES
490	500	510	520	530	540
DRLQILNEAW	KVITKLKNPQ	DYINCAEVWV	EYTCKHFTKR	EVNTVLADVI	KHMTPDRAFE
550	560	570	580	590	600
DSYPQLQLII	KKVIAHFHDF	SVLFSVEKFL	PFLDMFQKES	VRVEVCKCIM	DAFIKHQQEP
610	620	630	640	650	660
TKDPVILNAL	LHVCKTMHDS	VNALTLEDEK	RMLSYLINGF	IKMVSFGRDF	EQQLSFYVES
670	680	690	700	710	720
RSMFCNLEPV	LVQLIHSVNR	LAMETRKVMK	GNHSRKTAAF	VRACVAYCFI	TIPSLAGIFT
730	740	750	760	770	780
RLNLYLHSGQ	VALANQCLSQ	ADAFFKAAIS	LVPEVPKMIN	IDGKMRPSES	FLLEFLCNFF
790	800	810	820	830	840
STLLIVPDHP	EHGVLFLVRE	LLNVIQDYTW	EDNSDEKIRI	YTCVLHLLSA	MSQETYLYHI
850	860	870	880	890	900
DKVDSNDSLY	GGDSKFLAEN	NKLCETVMAQ	ILEHLKTLAK	DEALKRQSSL	GLSFFNSILA
910	920	930	940	950	960
HGDLRNNKLN	QLSVNLWHLA	QRHGCADTRT	MVKTLEYIKK	QSKQPDMTHL	TELALRLPLQ

TRT