AiPD: Autoinhibited Protein Database

Q496J9

Gene name	SV2C (KIAA1054)
Protein name	Synaptic vesicle glycoprotein 2C
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:22987
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-165 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-165 (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

7 structures for Q496J9

Entry ID	Method	Resolution	Chain	Position	Source
4JRA	X-ray	230 A	C/D	456-574	PDB
5JLV	X-ray	200 A	C/D	473-567	PDB
5MOY	X-ray	230 A	B	456-574	PDB
6ES1	X-ray	200 A	B	474-567	PDB
7UIA	X-ray	259 A	C/F	473-568	PDB
7UIB	X-ray	277 A	C/F	473-568	PDB
AF-Q496J9-F1	Predicted				AlphaFoldDB

603 variants for Q496J9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	2	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3310723 rs201283160	3	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs879207125 CA121197703	3	D>G		No	ClinGen Ensembl
rs1055013779 CA121197699	3	D>N		No	ClinGen Ensembl
CA3310724 rs369773755	4	S>C		No	ClinGen ESP ExAC TOPMed
rs1419725445 CA360317631	6	K>Q		No	ClinGen TOPMed
rs896752754 CA121197707	6	K>R		No	ClinGen Ensembl
CA360317706 rs1404107305	12	M>V		No	ClinGen gnomAD
rs990769531 CA121197717	13	K>Q		No	ClinGen TOPMed
rs762793374 CA3310727	13	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA360317737 rs751250938	15	A>S		No	ClinGen ExAC gnomAD
rs751250938 CA3310729	15	A>T		No	ClinGen ExAC gnomAD
rs767074287 CA360317754	17	D>G		No	ClinGen ExAC TOPMed gnomAD
rs767074287 CA3310731	17	D>V		No	ClinGen ExAC TOPMed gnomAD
rs143998842 CA3310732	18	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3310733 rs143998842	18	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1279875404 CA360317762	19	A>T		No	ClinGen gnomAD
rs780229412 CA3310734	20	R>K		No	ClinGen ExAC gnomAD
CA121197764 rs202024052 COSM1544113	21	E>D	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes
rs1227669714 CA360317774	21	E>K		No	ClinGen gnomAD
rs1322979777 CA360317784	22	V>A		No	ClinGen TOPMed gnomAD
rs1003999046 CA121197765	22	V>M		No	ClinGen gnomAD
rs1284820817 CA360317808	25	Q>H		No	ClinGen gnomAD
rs1217756500 CA360317812	26	T>A		No	ClinGen TOPMed
TCGA novel	28	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3310737 rs370939122	28	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA121197776 rs962481499	28	K>R		No	ClinGen TOPMed
rs771997327 CA3310739	30	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3310741 rs745734916	35	D>E		No	ClinGen ExAC gnomAD
CA3310742 rs377133919	36	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs370857452 CA3310743	36	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs762703343 CA3310744	37	A>S		No	ClinGen ExAC gnomAD
rs762703343 CA360317880	37	A>T		No	ClinGen ExAC gnomAD
rs763923894 CA3310745	37	A>V		No	ClinGen ExAC gnomAD
TCGA novel	38	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761553818 CA3310747	39	D>E		No	ClinGen ExAC TOPMed gnomAD
rs200148632 CA121197809	39	D>N		No	ClinGen TOPMed
CA121197811 rs200148632	39	D>Y		No	ClinGen TOPMed
rs766866638 CA3310748	40	E>A		No	ClinGen ExAC gnomAD
CA360317906 rs1381293155	41	Y>S		No	ClinGen gnomAD
CA3310749 rs749966669	42	T>A		No	ClinGen ExAC gnomAD
rs1468570086 CA360317913	42	T>N		No	ClinGen TOPMed gnomAD
rs1307911829 CA360317919	43	Q>L		No	ClinGen gnomAD
rs755641466 CA3310750	44	R>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	46	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3310751 rs766991977	47	S>G		No	ClinGen ExAC gnomAD
rs1276109362 CA360317948	47	S>I		No	ClinGen gnomAD
CA3310753 rs542427646	48	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754439110 CA3310752 COSM1070175	48	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA360317955 rs1336599961	49	F>L		No	ClinGen TOPMed gnomAD
rs1463050910 CA360317967	50	Q>H		No	ClinGen gnomAD
CA3310754 rs779444270	50	Q>P		No	ClinGen ExAC gnomAD
CA3310756 rs748341143	55	D>N		No	ClinGen ExAC gnomAD
CA360318028 rs1160491095	58	Y>C		No	ClinGen gnomAD
rs1440443401 CA360318025	58	Y>H		No	ClinGen gnomAD
CA3310757 rs758651691	60	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs758651691 CA360318043	60	P>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA360318046 rs1176534251	61	A>P		No	ClinGen gnomAD
rs558495648 CA3310760	64	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1580292609 CA360318089	67	G>D		No	ClinGen Ensembl
TCGA novel	67	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3310762 rs749242644	68	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3310763 rs768398181	70	N>H		No	ClinGen ExAC gnomAD
CA360318117 CA3310766 rs559499864	71	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761310792 CA3310765	71	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772811760 CA3310767	72	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3310769 rs766038627	73	E>K		No	ClinGen ExAC gnomAD
CA360318136 rs200962672	74	G>A		No	ClinGen TOPMed gnomAD
CA121197946 rs200962672	74	G>D		No	ClinGen TOPMed gnomAD
CA360318135 rs200962672	74	G>V		No	ClinGen TOPMed gnomAD
TCGA novel	75	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760151944 CA3310771	75	S>L		No	ClinGen ExAC gnomAD
CA360318158 rs1477831931	78	A>T		No	ClinGen gnomAD
CA3310772 rs538101845	81	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs778023865 CA3310775	82	H>N		No	ClinGen ExAC gnomAD
rs370288816 CA3310776	82	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs757275538 CA3310777	83	D>N		No	ClinGen ExAC gnomAD
CA360318209 rs1321016022	85	D>G		No	ClinGen gnomAD
TCGA novel	87	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3310779 rs190071386	89	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3310778 rs781278758	89	Y>H		No	ClinGen ExAC gnomAD
rs768591047 CA3310780	90	E>D		No	ClinGen ExAC TOPMed gnomAD
CA360318241 rs1276291362 COSM225209	90	E>K	NS [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1257937571 CA360318251	91	G>E		No	ClinGen gnomAD
CA3310785 rs760268981	93	Y>C		No	ClinGen ExAC
rs770526798 CA3310786	94	Q>E		No	ClinGen ExAC gnomAD
CA360318280 rs1199810418	95	G>A		No	ClinGen gnomAD
CA360318277 rs776285291	95	G>C		No	ClinGen ExAC TOPMed gnomAD
CA360318278 rs1199810418	95	G>D		No	ClinGen gnomAD
rs776285291 CA3310787	95	G>R		No	ClinGen ExAC TOPMed gnomAD
rs368758509 CA3310788	97	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs368758509 CA360318291	97	P>R		No	ClinGen ESP ExAC gnomAD
rs1476687795 CA360318299	98	S>R		No	ClinGen TOPMed gnomAD
TCGA novel	98	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1580292810 CA360318305	99	M>R		No	ClinGen Ensembl
CA360318320 rs1205862296	101	Q>E		No	ClinGen TOPMed
rs146415005 CA360318330	102	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360318326 rs1424169694	102	A>T		No	ClinGen gnomAD
rs146415005 CA3310790	102	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763042833 CA3310793	104	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA360318346 rs1405496873	105	S>C		No	ClinGen gnomAD
CA3310794 rs78725110	106	I>N		No	ClinGen ExAC TOPMed gnomAD
rs78725110 CA360318357	106	I>T		No	ClinGen ExAC TOPMed gnomAD
rs564825385 CA360318360	107	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3310796 rs564825385	107	V>M		No	ClinGen ExAC TOPMed gnomAD
rs764397749 CA3310799	114	G>D		No	ClinGen ExAC TOPMed gnomAD
rs764397749 CA3310798	114	G>V		No	ClinGen ExAC TOPMed gnomAD
rs746593541 CA3310804	115	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3310801 COSM323672 rs149119749	115	D>H	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3310802 rs149119749	115	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA121198081 rs149119749	115	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360318415 rs1347409889	116	E>K		No	ClinGen TOPMed
CA360318428 rs1294170876	117	Y>F		No	ClinGen gnomAD
rs776492250 COSM1329448 CA3310805	119	D>Y	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs769475653 CA360318447	120	R>P		No	ClinGen ExAC TOPMed gnomAD
rs769475653 CA3310807	120	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs759085527 CA3310806 COSM483053	120	R>W	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs764450772 CA3310810	121	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3310809 rs562854902	121	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1580292984 CA360318456	122	E>G		No	ClinGen Ensembl
CA360318465 rs1176131171	124	E>Q		No	ClinGen gnomAD
rs769828491 CA3310813	124	E>V		No	ClinGen ExAC gnomAD
TCGA novel	127	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360318495 rs1298506677	128	R>K		No	ClinGen gnomAD
COSM1288276 rs756166288 CA360318511	130	D>E	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA121198109 rs1012156005	130	D>N		No	ClinGen TOPMed gnomAD
rs367890274 CA3310816	131	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3310817 rs752641294	132	E>*		No	ClinGen ExAC TOPMed gnomAD
CA360318522 rs1554034966	132	E>A		No	ClinGen Ensembl
CA360318520 rs752641294	132	E>K		No	ClinGen ExAC TOPMed gnomAD
rs758274182 CA3310818	134	L>S		No	ClinGen ExAC
rs777567202 CA3310819	135	A>T		No	ClinGen ExAC gnomAD
CA3310820 rs746787856	137	Q>K		No	ClinGen ExAC gnomAD
CA360318565 rs1239687942	138	Y>C		No	ClinGen gnomAD
rs1383100594 CA360318608	144	E>A		No	ClinGen TOPMed
rs745535885 CA3310824	145	C>*		No	ClinGen ExAC TOPMed gnomAD
CA3310822 rs753875820	145	C>R		No	ClinGen ExAC TOPMed gnomAD
rs371722323 CA3310826	146	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371722323 CA3310825 COSM1070177	146	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1165480823 CA360318623	147	H>D		No	ClinGen TOPMed
rs769027251 CA3310827	149	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3310828 rs200407202	149	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360318654 rs966616481	151	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	152	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA121198167 rs754508238	152	W>R		No	ClinGen TOPMed
CA3310829 rs762138131	152	W>S		No	ClinGen ExAC gnomAD
CA3310830 rs767922332	153	A>S		No	ClinGen ExAC gnomAD
CA3310831 rs773376991	154	L>V		No	ClinGen ExAC gnomAD
rs760921491 CA3310832	155	F>L		No	ClinGen ExAC gnomAD
rs528331991 COSM1438610 CA3310834	157	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs528331991 CA360318688	157	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1307437819 COSM347318 CA360318710	160	M>I	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA360318704 rs1339349159	160	M>V		No	ClinGen TOPMed gnomAD
rs751596173 CA3310837	161	A>T		No	ClinGen ExAC gnomAD
rs959742036 CA121198191	163	M>I		No	ClinGen TOPMed
CA3310838 rs757067429	163	M>L		No	ClinGen ExAC gnomAD
CA360318727 rs1307930062	163	M>T		No	ClinGen TOPMed gnomAD
CA360318725 rs757067429	163	M>V		No	ClinGen ExAC gnomAD
rs781162705 CA3310839	164	A>E		No	ClinGen ExAC gnomAD
TCGA novel	164	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745444157 CA3310840	165	D>G		No	ClinGen ExAC gnomAD
rs779809294 CA3310842	166	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3310843 rs143178564	167	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1580293278 CA360318766	169	V>G		No	ClinGen Ensembl
rs1561229932 CA360318763	169	V>L		No	ClinGen Ensembl
CA360318771 rs1236331828	170	F>S		No	ClinGen gnomAD
rs1580293283 CA360318769	170	F>V		No	ClinGen Ensembl
CA360318777 rs1305514180	171	V>I		No	ClinGen TOPMed
CA3310845 rs774819373	172	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3310846 rs774819373	172	V>L		No	ClinGen ExAC TOPMed gnomAD
CA360318800 rs373545330	175	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3310849 rs373545330 COSM1438611	175	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA360318818 rs1271199442	178	S>C		No	ClinGen gnomAD
rs199759329 CA3310850	178	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1173936476 CA360318824	179	A>T		No	ClinGen TOPMed
CA360318831 rs1479999793	180	E>K		No	ClinGen TOPMed
CA360318854 rs1179151680	183	L>F		No	ClinGen gnomAD
rs1038301155 CA121198227	185	I>T		No	ClinGen Ensembl
CA360318876 rs1201547566	186	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3310854 rs751501785	189	G>E		No	ClinGen ExAC gnomAD
CA3310853 rs765379715	189	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	190	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360318909 rs1375697963	192	W>G		No	ClinGen TOPMed gnomAD
CA360318908 rs1375697963	192	W>R		No	ClinGen TOPMed gnomAD
CA121198241 rs922112268	193	L>Q		No	ClinGen Ensembl
rs1474146254 CA360317262	194	G>A		No	ClinGen gnomAD
TCGA novel	194	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360317268 rs1406572356	195	S>T		No	ClinGen gnomAD
CA3311011 rs764461927	196	I>L		No	ClinGen ExAC
rs561216746 CA3311012	196	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3311013 rs376092207	197	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3311014 rs767529386	198	Y>F		No	ClinGen ExAC gnomAD
rs368961998 CA3311015	199	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3311016 rs756287728	200	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1224240412 CA360317305	201	M>I		No	ClinGen gnomAD
rs1240801745 CA360317312	202	M>T		No	ClinGen gnomAD
TCGA novel	203	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360317317 rs1357090246	203	V>M		No	ClinGen TOPMed
rs200809106 CA3311017	205	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM252854 CA3311018 rs752729244	205	A>V	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA360317338 rs1580345631	206	F>C		No	ClinGen Ensembl
rs1246361483 CA360317352	208	W>*		No	ClinGen TOPMed
CA360317360 rs1384910093	209	G>E		No	ClinGen TOPMed
CA121270869 rs867831187	209	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA360317369 rs544888404	211	L>M		No	ClinGen 1000Genomes TOPMed gnomAD
rs1426247371 CA360317374	212	A>T		No	ClinGen gnomAD
CA360317389 rs1156685814	214	K>E		No	ClinGen gnomAD
rs1561259064 CA360317397	215	V>L		No	ClinGen Ensembl
rs751192851 CA3311023	220	S>A		No	ClinGen ExAC gnomAD
rs756955373 CA3311024	220	S>C		No	ClinGen ExAC gnomAD
rs1290610267 CA360317437	221	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1290610267 CA360317436	221	L>V		No	ClinGen TOPMed gnomAD
CA360317443 rs1446780782	222	L>Q		No	ClinGen TOPMed
COSM1070179 CA3311026 rs373154009	225	M>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA360317462 rs1451317626	225	M>L		No	ClinGen TOPMed gnomAD
CA3311025 rs780963041	225	M>T		No	ClinGen ExAC TOPMed gnomAD
CA360317463 rs1451317626	225	M>V		No	ClinGen TOPMed gnomAD
CA360317470 rs1221768317	226	S>P		No	ClinGen gnomAD
rs780371830 CA360317488 CA3311028	229	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs202144317 CA360317499 COSM129511 CA3311029	230	F>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA360317513 rs1561259150	232	A>V		No	ClinGen Ensembl
COSM483054 rs1268389470 CA360317521	233	F>L	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
CA360317522 rs1270604954	234	L>F		No	ClinGen gnomAD
CA3311030 rs199642813	237	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3311031 rs774708883	238	V>F		No	ClinGen ExAC gnomAD
CA360317557 rs1473891021	239	Q>L		No	ClinGen gnomAD
rs1473891021 CA360317556	239	Q>R		No	ClinGen gnomAD
CA360317577 rs1028310476	242	G>D		No	ClinGen TOPMed
rs1028310476 CA121270932	242	G>V		No	ClinGen TOPMed
CA3311035 rs773527691	245	L>F		No	ClinGen ExAC
CA360317595 rs773527691	245	L>V		No	ClinGen ExAC
rs1281763735 CA360317601	246	F>L		No	ClinGen gnomAD
CA3311037 rs766503936	247	C>Y		No	ClinGen ExAC gnomAD
CA3311038 rs200529235	248	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs200529235 CA360317634	248	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs965720468 CA121270970	253	F>I		No	ClinGen TOPMed
CA360317705 rs1468777352	254	G>R		No	ClinGen gnomAD
rs761648379 CA3311059	255	I>F		No	ClinGen ExAC
rs761648379 CA3311060	255	I>L		No	ClinGen ExAC
rs755802436 CA3311062	255	I>M		No	ClinGen ExAC TOPMed gnomAD
CA3311061 rs749975877	255	I>S		No	ClinGen ExAC TOPMed
rs749975877 CA121280883	255	I>T		No	ClinGen ExAC TOPMed
rs1183864738 CA360316912	257	G>V		No	ClinGen TOPMed
rs754523861 CA3311065	259	I>M		No	ClinGen ExAC TOPMed gnomAD
rs61746767 CA3311064	259	I>T		No	ClinGen ExAC TOPMed gnomAD
rs779370809 CA3311066	260	P>R		No	ClinGen ExAC gnomAD
CA360316938 rs1308285259	262	V>E		No	ClinGen gnomAD
TCGA novel	262	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM593425 rs748677235 CA3311068	264	S>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3311067 rs748677235	264	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1208222312 CA360316957	265	Y>C		No	ClinGen TOPMed
CA3311069 rs778208037	266	F>C		No	ClinGen ExAC gnomAD
CA360316973 rs1270306934	267	A>V		No	ClinGen TOPMed
rs751358005 CA3311071	272	R>G		No	ClinGen ExAC TOPMed gnomAD
rs13153247 CA360317000	272	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs13153247 CA360316999	272	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3311073 COSM3697312 rs13153247	272	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3311072 rs751358005	272	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1297623079 CA360317001	273	E>K		No	ClinGen TOPMed gnomAD
CA360317002 rs1297623079	273	E>Q		No	ClinGen TOPMed gnomAD
rs13153253 CA121280963	274	K>N		No	ClinGen Ensembl
CA3311075 rs774387223	275	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs139844012 CA3311074	275	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3311077 rs767158602	276	G>D		No	ClinGen ExAC gnomAD
rs761814967 CA3311076	276	G>S		No	ClinGen ExAC TOPMed gnomAD
rs13153261 CA3311078	277	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3311079 rs760456755	280	S>T		No	ClinGen ExAC gnomAD
rs1161009851 CA360317058	281	W>*		No	ClinGen TOPMed
CA360317064 rs766025327	282	L>P		No	ClinGen ExAC gnomAD
rs766025327 CA3311080	282	L>R		No	ClinGen ExAC gnomAD
CA3311081 CA360317080 rs753539447	284	M>I		No	ClinGen ExAC TOPMed gnomAD
CA360317078 rs1230851537	284	M>T		No	ClinGen gnomAD
rs918350813 CA121281066	286	W>C		No	ClinGen Ensembl
CA360317130 rs1222965588	291	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs753140281 CA3311084	293	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1242161988 CA360317151	294	S>F		No	ClinGen gnomAD
CA121281112 rs370314313	296	M>L		No	ClinGen ESP TOPMed gnomAD
CA3311086 rs778203718	296	M>T		No	ClinGen ExAC
CA360317158 rs370314313	296	M>V		No	ClinGen ESP TOPMed gnomAD
rs1181320005 CA360317167	297	A>S		No	ClinGen gnomAD
rs1181320005 CA360317165	297	A>T		No	ClinGen gnomAD
rs890014680 CA360317177	298	W>*		No	ClinGen gnomAD
rs890014680 CA121281117	298	W>C		No	ClinGen gnomAD
CA3311088 rs757609434	300	I>V		No	ClinGen ExAC gnomAD
CA3311089 COSM1070183 rs200015480	302	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs200015480 CA360317201	302	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA360317198 rs1399429728	302	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs377280885 CA360317217	304	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3311092 rs368243303	305	G>R		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA360155512 rs750615952	307	S>R		No	ClinGen ExAC gnomAD
rs1005890179 CA120986398	308	F>Y		No	ClinGen Ensembl
CA360155526 rs1436362416	309	S>R		No	ClinGen gnomAD
rs1181562034 CA360155534	310	M>I		No	ClinGen gnomAD
CA360155539 rs1473856957	311	G>E		No	ClinGen TOPMed gnomAD
CA3311108 rs756391317	311	G>R		No	ClinGen ExAC gnomAD
CA3311109 rs780487852	312	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1414612983 CA360155565	315	Q>R		No	ClinGen Ensembl
CA120986429 rs1050237357	317	H>P		No	ClinGen TOPMed
CA3311113 rs777718396	318	S>R		No	ClinGen ExAC gnomAD
rs375056697 CA3311111	318	S>R		No	ClinGen ESP ExAC gnomAD
rs1394622051 CA360155601	320	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3311114 rs770649936	320	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762537711 CA3311116	321	V>E		No	ClinGen ExAC TOPMed gnomAD
rs776428022 CA3311115	321	V>L		No	ClinGen ExAC gnomAD
CA3311117 rs769435074	322	F>S		No	ClinGen ExAC gnomAD
rs1234781653 CA360155631	325	V>A		No	ClinGen gnomAD
rs762472964 CA3311119	325	V>I		No	ClinGen ExAC TOPMed gnomAD
rs752033928 CA3311121	326	C>R		No	ClinGen ExAC gnomAD
CA360155645 rs1458733969	327	A>V		No	ClinGen TOPMed
rs768196365 CA3311123	330	C>S		No	ClinGen ExAC gnomAD
TCGA novel	331	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149463986 CA3311125	332	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372510291 CA3311129	334	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372510291 CA3311128	334	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1169515832 CA360155686	335	V>M		No	ClinGen TOPMed gnomAD
COSM357015 CA3311131 rs770846000	337	L>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs375882560 CA3311133	340	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	341	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769597563 CA3311134	345	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775165202 CA3311135	345	R>P		No	ClinGen ExAC gnomAD
rs775165202 CA3311136 COSM1438615	345	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3311137 rs768150226	346	F>L		No	ClinGen ExAC gnomAD
rs761958250 CA120986568	347	L>S		No	ClinGen Ensembl
CA360155799 rs1264401030	350	V>A		No	ClinGen TOPMed gnomAD
TCGA novel	352	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	352	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360155831 rs1183266906	355	E>K		No	ClinGen gnomAD
CA120986824 rs371645359	356	A>S		No	ClinGen Ensembl
rs779723580 CA3311153	357	W>*		No	ClinGen ExAC gnomAD
rs750633270 CA120986850	358	M>I		No	ClinGen TOPMed gnomAD
CA3311154 rs749164523	361	K>N		No	ClinGen ExAC gnomAD
TCGA novel	362	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1321959078 CA360155930	367	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA360155927 rs1561298868	367	N>Y		No	ClinGen Ensembl
rs1457768989 CA360155937	368	M>L		No	ClinGen TOPMed
rs921877540 CA120986860	370	A>S		No	ClinGen TOPMed
CA360155976 rs1403316761	370	A>V		No	ClinGen gnomAD
rs747638061 CA3311157	371	R>Q		No	ClinGen ExAC gnomAD
CA3311156 rs774090995	371	R>W		No	ClinGen ExAC TOPMed gnomAD
rs374223649 CA3311159	372	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3311161 rs561451250	374	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3311160 rs561451250	374	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA120986888 rs537624992	376	K>N		No	ClinGen Ensembl
rs776849848 CA3311162	377	V>I		No	ClinGen ExAC gnomAD
CA120986904 rs547865662	378	F>L		No	ClinGen Ensembl
rs765348729 CA3311164 COSM3393667	379	T>M	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs370282974 CA3311180	380	V>I		No	ClinGen ESP ExAC gnomAD
TCGA novel	381	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1435200955 CA360156141	381	N>K		No	ClinGen TOPMed
rs375669090 CA120989157	383	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	385	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA120989163 rs1033375697	389	I>M		No	ClinGen Ensembl
CA3311183 rs770223470	389	I>T		No	ClinGen ExAC gnomAD
rs1580032497 CA360156261	391	E>D		No	ClinGen Ensembl
CA3311187 rs201424578	393	I>N		No	ClinGen 1000Genomes ExAC gnomAD
CA360156313 rs1176585141	396	E>G		No	ClinGen TOPMed
CA3311188 rs751633523	397	S>N		No	ClinGen ExAC TOPMed gnomAD
rs761992941 CA3311189	400	G>E		No	ClinGen ExAC gnomAD
rs1183484116 CA360156382	402	W>L		No	ClinGen TOPMed
CA360156376 rs1580032593	402	W>R		No	ClinGen Ensembl
rs753834108 CA3311191	403	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA3311190 rs372006804	403	Y>H		No	ClinGen ExAC gnomAD
rs778858401 CA3311194	405	R>K		No	ClinGen ExAC TOPMed gnomAD
CA3311195 rs752339893	408	V>F		No	ClinGen ExAC gnomAD
CA3311197 rs368752277	409	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs758111862 CA3311196	409	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746474527 CA3311198	410	I>V		No	ClinGen ExAC gnomAD
CA3311199 rs770526223	411	R>C		No	ClinGen ExAC TOPMed gnomAD
rs190593094 COSM1496175 CA3311200	411	R>H	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs190593094 COSM1544111 CA3311201	411	R>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs200154327 CA3311203	413	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372122654 CA3311206	416	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA120989500 rs916337625	418	W>C		No	ClinGen TOPMed
CA3311224 rs780578869	418	W>L		No	ClinGen ExAC gnomAD
CA3311223 rs780578869	418	W>S		No	ClinGen ExAC gnomAD
CA3311226 rs769028669	421	F>I		No	ClinGen ExAC TOPMed gnomAD
CA3311227 rs747579198	422	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	425	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs949014228 CA120989507	429	V>I		No	ClinGen Ensembl
rs748408876 CA3311228	430	R>S		No	ClinGen ExAC gnomAD
CA360156832 rs1227782632	434	I>T		No	ClinGen gnomAD
CA360156829 rs1348438904	434	I>V		No	ClinGen gnomAD
rs949161963 CA120989541	437	T>A		No	ClinGen TOPMed gnomAD
rs1046694843 CA120989542	438	I>T		No	ClinGen TOPMed
CA360156870 rs1201341219	440	W>L		No	ClinGen gnomAD
rs773329405 CA3311230	440	W>R		No	ClinGen ExAC gnomAD
TCGA novel	441	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1396206721 CA360156905	445	F>L		No	ClinGen TOPMed
rs938342611 CA120991459	448	Y>C		No	ClinGen Ensembl
CA360156972 rs918400845	449	G>E		No	ClinGen TOPMed
CA120991470 rs918400845	449	G>V		No	ClinGen TOPMed
rs1352239915 CA360156991	451	S>Y		No	ClinGen gnomAD
rs750063338 CA3311256	452	V>I		No	ClinGen ExAC gnomAD
rs755581046 CA3311257	453	W>*		No	ClinGen ExAC TOPMed gnomAD
rs755581046 CA120991478	453	W>L		No	ClinGen ExAC TOPMed gnomAD
rs1561303070 CA360157032	455	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs756018103 CA3311258	456	D>N		No	ClinGen ExAC TOPMed gnomAD
CA360157058 rs1340400675	457	V>A		No	ClinGen TOPMed gnomAD
rs754286272 CA3311259	457	V>I		No	ClinGen ExAC gnomAD
rs1407794486 CA360157071	458	I>M		No	ClinGen TOPMed
rs548280850 CA3311260	460	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779357025 CA3311261	461	L>V		No	ClinGen ExAC gnomAD
CA360157110 rs1329260386	462	Q>H		No	ClinGen TOPMed
rs1223819176 CA360157114	463	S>P		No	ClinGen gnomAD
rs758741930 CA3311263	464	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3311264 rs373338361	465	E>V		No	ClinGen ESP ExAC gnomAD
rs1168984218 CA360157155	466	Y>C		No	ClinGen gnomAD
rs771070597 CA3311266	466	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	467	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1292887300 CA360157183	469	L>P		No	ClinGen gnomAD
rs746007793 CA3311268	473	V>M		No	ClinGen ExAC gnomAD
CA360157238 rs1157522418	474	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	474	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1472534124 CA360157265	476	D>E		No	ClinGen TOPMed
rs558722782 CA3311270	476	D>N		No	ClinGen ExAC gnomAD
CA360157301 rs1228772060	479	A>E		No	ClinGen TOPMed gnomAD
CA360157338 rs2270927	482	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360157340 rs2270927	482	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3311272 rs2270927 VAR_050303	482	T>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3311273 rs772784777	483	I>T		No	ClinGen ExAC gnomAD
TCGA novel	486	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360157395 rs1488813460	487	M>I		No	ClinGen gnomAD
CA120991531 rs1052630480	487	M>T		No	ClinGen TOPMed gnomAD
rs999520698 CA120991526	487	M>V		No	ClinGen TOPMed gnomAD
CA360157402 rs1266295996	488	E>K		No	ClinGen TOPMed
rs760332861 CA3311274	489	N>H		No	ClinGen ExAC TOPMed gnomAD
CA360157411 rs760332861	489	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs1246331697 CA360157442	491	I>M		No	ClinGen gnomAD
rs1189508530 CA360157456	493	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1391731744 CA360157461	493	T>S		No	ClinGen gnomAD
rs759089810 CA3311277	495	M>I		No	ClinGen ExAC TOPMed
rs548001146 CA3311276	495	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs753169887 CA3311279	497	Y>C		No	ClinGen ExAC gnomAD
CA3311278 rs570723672	497	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs893831427 CA360157510	498	D>N		No	ClinGen TOPMed gnomAD
rs893831427 CA120991572	498	D>Y		No	ClinGen TOPMed gnomAD
rs1435341166 CA360157527	499	N>S		No	ClinGen gnomAD
rs1322166268 CA360157538	500	G>C		No	ClinGen gnomAD
CA3311281 rs778008741	500	G>D		No	ClinGen ExAC TOPMed gnomAD
CA3311298 rs753185097	501	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763386697 CA3311299	503	I>L		No	ClinGen ExAC TOPMed gnomAD
CA3311300 rs201019699	503	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	504	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1256351664 CA360157616	504	G>R		No	ClinGen gnomAD
CA360157626 rs1580046475	505	V>D		No	ClinGen Ensembl
rs778645466 CA3311303	505	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3311305 rs750704072	508	K>*		No	ClinGen ExAC TOPMed gnomAD
rs756150629 CA3311306	510	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3311308 rs749442800	511	T>P		No	ClinGen ExAC gnomAD
CA360157669 rs1304590120	512	F>Y		No	ClinGen TOPMed gnomAD
CA360157684 rs1360069562	514	D>H		No	ClinGen gnomAD
CA360157695 rs1365176808	515	S>F		No	ClinGen gnomAD
TCGA novel	517	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758265621 CA3311309	517	F>S		No	ClinGen ExAC gnomAD
rs1350398856 CA360157715	518	K>N		No	ClinGen gnomAD
rs1306653629 CA360157709	518	K>Q		No	ClinGen TOPMed gnomAD
CA3311310 rs777727933	519	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1365644123 CA360157744	523	E>K		No	ClinGen gnomAD
rs368083897 CA3311311	524	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
TCGA novel	525	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1302288043 CA360157769	526	T>N		No	ClinGen gnomAD
CA120993132 rs780522175	529	N>D		No	ClinGen Ensembl
CA3311314 rs745516093	530	T>I		No	ClinGen ExAC gnomAD
rs769292915 CA3311316	531	Y>C		No	ClinGen ExAC
CA360157802 rs1447558892	532	F>L		No	ClinGen TOPMed
CA3311318 rs762560611	536	T>I		No	ClinGen ExAC gnomAD
CA360157853 rs1244420351	538	I>M		No	ClinGen gnomAD
CA3311320 rs775017016	540	T>I		No	ClinGen ExAC gnomAD
TCGA novel	540	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360157868 rs1396520105	541	V>I		No	ClinGen gnomAD
rs767996350 CA3311322	543	D>G		No	ClinGen ExAC gnomAD
VAR_050304 CA3311321 rs31244	543	D>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	544	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762421455 CA3311339	547	F>C		No	ClinGen ExAC gnomAD
CA360157974 rs1282268102	548	E>K		No	ClinGen gnomAD
rs1355550018 CA360157989	549	P>Q		No	ClinGen gnomAD
CA3311340 rs768196341	550	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA360158032 rs1326487559	553	I>F		No	ClinGen gnomAD
CA3311341 rs373236256	554	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA360158115 rs1474844061	560	C>*		No	ClinGen TOPMed
rs1168168980 CA360158112	560	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA120994694 rs766489181	561	S>*		No	ClinGen ExAC TOPMed gnomAD
COSM3828436 CA3311343 rs766489181	561	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3311342 rs761142493	561	S>P		No	ClinGen ExAC TOPMed gnomAD
rs369286225 CA3311346	564	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA
rs188730765 CA3311349 CA3311348	565	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765307481 CA3311347	565	N>S		No	ClinGen ExAC gnomAD
CA360158153 rs1420059706	566	K>M		No	ClinGen gnomAD
rs1165035597 CA360158155 CA360158154	566	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs781226822 CA3311350	567	T>M		No	ClinGen ExAC gnomAD
rs551054716 CA3311353	574	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1580049083 CA360158208	574	D>G		No	ClinGen Ensembl
rs1580049075 CA360158205	574	D>H		No	ClinGen Ensembl
CA360158231 rs1339709923	577	Y>C		No	ClinGen gnomAD
CA360158237 rs1375330284	578	S>C		No	ClinGen TOPMed gnomAD
CA3311355 rs748973204	578	S>I		No	ClinGen ExAC TOPMed gnomAD
CA360158241 rs768222996	578	S>R		No	ClinGen ExAC gnomAD
rs1348020453 CA360158245	579	A>D		No	ClinGen gnomAD
rs1348020453 CA360158247	579	A>V		No	ClinGen gnomAD
rs375494365 CA3311357	580	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA360158256 rs1325217576	581	W>R		No	ClinGen TOPMed
CA3311358 rs747727420	583	Y>H		No	ClinGen ExAC gnomAD
CA360158290 rs1396430005	585	V>A		No	ClinGen TOPMed
CA360158288 rs1441530047	585	V>F		No	ClinGen TOPMed
CA360158304 rs1376199957	587	F>S		No	ClinGen TOPMed gnomAD
TCGA novel	590	T>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1419734326 CA360158323	590	T>R		No	ClinGen TOPMed
rs1393937109 CA360158368	597	N>I		No	ClinGen TOPMed
CA3311362 rs771360261	598	I>T		No	ClinGen ExAC gnomAD
rs759770783 CA3311364	603	L>P		No	ClinGen ExAC gnomAD
rs1455909126 CA360158401	603	L>V		No	ClinGen TOPMed
CA3311365 rs753219889	604	M>I		No	ClinGen ExAC gnomAD
CA3311366 rs201110335	607	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1171062171 CA360158429	607	I>V		No	ClinGen gnomAD
rs756743267 CA3311368	609	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767305649 CA3311369	609	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3311371 rs756614285	610	L>*		No	ClinGen ExAC gnomAD
rs755796390 CA3311373	610	L>F		No	ClinGen ExAC TOPMed gnomAD
CA360158463 rs1273882390	612	M>I		No	ClinGen gnomAD
CA3311375 rs779909443	612	M>V		No	ClinGen ExAC gnomAD
CA360158471 rs1344681449	614	G>S		No	ClinGen gnomAD
rs772962809 CA3311390	615	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3311391 rs760646227	616	S>C		No	ClinGen ExAC TOPMed gnomAD
rs753654506 CA3311393	617	M>V		No	ClinGen ExAC gnomAD
rs754870042 CA3311394	620	S>A		No	ClinGen ExAC gnomAD
rs1170985439 CA360158547	624	C>S		No	ClinGen TOPMed gnomAD
CA360158546 rs1170985439	624	C>Y		No	ClinGen TOPMed gnomAD
rs757781502 CA3311397	628	W>C		No	ClinGen ExAC TOPMed gnomAD
rs746562147 CA3311399	630	G>S		No	ClinGen ExAC TOPMed gnomAD
CA360158595 rs1162094885	631	T>A		No	ClinGen TOPMed gnomAD
CA120995375 rs1015511360	632	S>N		No	ClinGen TOPMed gnomAD
CA120995383 rs35035322	634	S>C		No	ClinGen Ensembl
TCGA novel	634	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3311400 rs757781864	635	M>V		No	ClinGen ExAC gnomAD
CA3311401 rs781697227	636	M>I		No	ClinGen ExAC TOPMed gnomAD
CA3311402 rs746177790	637	I>T		No	ClinGen ExAC gnomAD
CA3311403 rs770171715	638	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1309779511 CA360158651	639	M>T		No	ClinGen gnomAD
rs775620710 CA3311404	640	L>P		No	ClinGen ExAC TOPMed gnomAD
CA120995415 rs372083701	641	C>*		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs35723561 CA120995408	641	C>G		No	ClinGen Ensembl
rs1580049888 CA360158669	642	L>P		No	ClinGen Ensembl
rs200769447 CA3311406	644	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1186881624 CA360158700	647	T>A		No	ClinGen gnomAD
CA3311409 rs766318136	648	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1197116899 CA360158726	651	W>*		No	ClinGen gnomAD
CA360158735 rs1257867324	652	N>T		No	ClinGen TOPMed gnomAD
CA3311414 rs758058059	656	V>M		No	ClinGen ExAC gnomAD
rs376683111 CA360158765	657	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs376683111 CA3311415	657	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376683111 CA3311416	657	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA360158774 rs1580049995	658	T>I		No	ClinGen Ensembl
CA360158792 rs1364590650	661	L>P		No	ClinGen gnomAD
rs369974472 CA3311417	663	P>L		No	ClinGen ESP ExAC gnomAD
rs372341328 CA3311418	664	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA360158807 rs1235195413	664	T>P		No	ClinGen gnomAD
CA3311421 rs202233851	666	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs756409524 CA3311420	666	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA360159773 rs1231773251	668	A>V		No	ClinGen gnomAD
CA360159777 rs1281699312	669	T>A		No	ClinGen TOPMed
rs1480673953 CA360159808	672	G>D		No	ClinGen gnomAD
CA360159819 rs1178513581	673	F>S		No	ClinGen TOPMed gnomAD
rs762720469 CA3311432	674	L>S		No	ClinGen ExAC gnomAD
TCGA novel	676	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs554653198 CA3311433	676	A>V	Variant assessed as Somatic; 9.277e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3311435 rs761349390	678	C>R		No	ClinGen ExAC gnomAD
CA3311436 rs767038870	678	C>W		No	ClinGen ExAC gnomAD
rs749987470 CA3311437	680	A>V		No	ClinGen ExAC gnomAD
CA3311439 rs780605841	682	A>D		No	ClinGen ExAC gnomAD
TCGA novel	682	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3311443 rs779123910	683	V>F		No	ClinGen ExAC TOPMed gnomAD
rs779123910 CA3311442	683	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3311444 rs772227535	684	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	685	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3311447 rs769847038	691	S>F		No	ClinGen ExAC gnomAD
rs775343906 CA3311448	694	S>G		No	ClinGen ExAC gnomAD
rs775343906 CA3311449	694	S>R		No	ClinGen ExAC gnomAD
CA3311452 rs761435934	698	S>*		No	ClinGen ExAC gnomAD
CA121013924 rs944188986	699	I>V		No	ClinGen TOPMed
rs1157781082 CA360160098	701	I>M		No	ClinGen TOPMed
CA3311455 COSM1620552 rs760236844	703	L>M	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	704	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3311457 rs754305533	706	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	706	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761091930 CA121013969	709	V>A		No	ClinGen Ensembl
CA3311460 rs572553728	709	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	710	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779166705 CA3311461	711	G>R		No	ClinGen ExAC gnomAD
CA360160192 rs1348263784	713	L>I		No	ClinGen gnomAD
CA360160194 rs1440387338	713	L>P		No	ClinGen gnomAD
CA360160201 rs1432614415	714	V>A		No	ClinGen TOPMed gnomAD
rs766432727 CA3311463	714	V>F		No	ClinGen ExAC TOPMed gnomAD
rs766432727 CA3311464	714	V>I		No	ClinGen ExAC TOPMed gnomAD
rs757422554 CA3311466	717	C>*		No	ClinGen ExAC
CA360160253 rs1277156875	720	D>E		No	ClinGen gnomAD
CA360160264 rs1291698537	721	T>I		No	ClinGen TOPMed
TCGA novel	722	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs574806183 CA3311467	722	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1356189939 CA360160272	723	T>S		No	ClinGen TOPMed
rs1287066592 CA360160283	724	Q>*		No	ClinGen TOPMed gnomAD
TCGA novel	724	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1343331706 CA360160293	725	V>I		No	ClinGen TOPMed
CA360160314 rs1317438438	727	M>T		No	ClinGen TOPMed

No associated diseases with Q496J9

3 regional properties for Q496J9

Type	Name	Position	InterPro Accession
repeat	Pentapeptide repeat	501 - 566	IPR001646
conserved_site	Sugar transporter, conserved site	250 - 275	IPR005829
domain	Major facilitator superfamily domain	154 - 722	IPR020846

Functions

		Description
EC Number
Subcellular Localization	Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Multi-pass membrane protein	Enriched in small synaptic vesicles and adrenal microsomes, not present in chromaffin granules Associated with both insulin granules and synaptic-like microvesicles in insulin-secreting cells of the pancreas
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
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.
integral component of synaptic vesicle membrane	The component of the synaptic vesicle 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.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
synaptic vesicle	A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
synaptic vesicle membrane	The lipid bilayer surrounding a synaptic vesicle.

1 GO annotations of molecular function

Name	Definition
transmembrane transporter activity	Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.

2 GO annotations of biological process

Name	Definition
chemical synaptic transmission	The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
neurotransmitter transport	The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell.

17 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q17QN9	SLC22A16	Solute carrier family 22 member 16	Bos taurus (Bovine)	PR
Q1JP63	SVOP	Synaptic vesicle 2-related protein	Bos taurus (Bovine)	PR
Q9H015	SLC22A4	Solute carrier family 22 member 4	Homo sapiens (Human)	PR
Q8N4V2	SVOP	Synaptic vesicle 2-related protein	Homo sapiens (Human)	PR
A6NKX4	SLC22A31	Putative solute carrier family 22 member 31	Homo sapiens (Human)	PR
Q7L1I2	SV2B	Synaptic vesicle glycoprotein 2B	Homo sapiens (Human)	PR
Q9Z0E8	Slc22a5	Solute carrier family 22 member 5	Mus musculus (Mouse)	PR
Q9Z306	Slc22a4	Solute carrier family 22 member 4	Mus musculus (Mouse)	PR
Q9D9E0	Slc22a17	Solute carrier family 22 member 17	Mus musculus (Mouse)	PR
Q8BFT9	Svop	Synaptic vesicle 2-related protein	Mus musculus (Mouse)	PR
Q497L8	Slc22a16	Solute carrier family 22 member 16	Mus musculus (Mouse)	PR
Q69ZS6	Sv2c	Synaptic vesicle glycoprotein 2C	Mus musculus (Mouse)	PR
Q70BM6	SLC22A8	Organic anion transporter 3	Sus scrofa (Pig)	PR
Q9Z2I7	Svop	Synaptic vesicle 2-related protein	Rattus norvegicus (Rat)	PR
Q9R141	Slc22a4	Solute carrier family 22 member 4	Rattus norvegicus (Rat)	PR
Q9Z2I6	Sv2c	Synaptic vesicle glycoprotein 2C	Rattus norvegicus (Rat)	PR
Q7Z118	B0361.11	Putative transporter B0361.11	Caenorhabditis elegans	PR

10	20	30	40	50	60
MEDSYKDRTS	LMKGAKDIAR	EVKKQTVKKV	NQAVDRAQDE	YTQRSYSRFQ	DEEDDDDYYP
70	80	90	100	110	120
AGETYNGEAN	DDEGSSEATE	GHDEDDEIYE	GEYQGIPSMN	QAKDSIVSVG	QPKGDEYKDR
130	140	150	160	170	180
RELESERRAD	EEELAQQYEL	IIQECGHGRF	QWALFFVLGM	ALMADGVEVF	VVGFVLPSAE
190	200	210	220	230	240
TDLCIPNSGS	GWLGSIVYLG	MMVGAFFWGG	LADKVGRKQS	LLICMSVNGF	FAFLSSFVQG
250	260	270	280	290	300
YGFFLFCRLL	SGFGIGGAIP	TVFSYFAEVL	AREKRGEHLS	WLCMFWMIGG	IYASAMAWAI
310	320	330	340	350	360
IPHYGWSFSM	GSAYQFHSWR	VFVIVCALPC	VSSVVALTFM	PESPRFLLEV	GKHDEAWMIL
370	380	390	400	410	420
KLIHDTNMRA	RGQPEKVFTV	NKIKTPKQID	ELIEIESDTG	TWYRRCFVRI	RTELYGIWLT
430	440	450	460	470	480
FMRCFNYPVR	DNTIKLTIVW	FTLSFGYYGL	SVWFPDVIKP	LQSDEYALLT	RNVERDKYAN
490	500	510	520	530	540
FTINFTMENQ	IHTGMEYDNG	RFIGVKFKSV	TFKDSVFKSC	TFEDVTSVNT	YFKNCTFIDT
550	560	570	580	590	600
VFDNTDFEPY	KFIDSEFKNC	SFFHNKTGCQ	ITFDDDYSAY	WIYFVNFLGT	LAVLPGNIVS
610	620	630	640	650	660
ALLMDRIGRL	TMLGGSMVLS	GISCFFLWFG	TSESMMIGML	CLYNGLTISA	WNSLDVVTVE
670	680	690	700	710	720
LYPTDRRATG	FGFLNALCKA	AAVLGNLIFG	SLVSITKSIP	ILLASTVLVC	GGLVGLCLPD

TRTQVLM